Vascular aspects of the Ehlers-Danlos Syndromes

Malfait, Fransiska

doi:10.1016/j.matbio.2018.04.013

Cited by 113Connective tissue disorders researchDermatological and Skeletal DisordersCerebrovascular and genetic disorders

Vascular aspects of the Ehlers-Danlos Syndromes

Malfait, Fransiska·2018·Matrix Biology

DOI 10.1016/j.matbio.2018.04.013

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Abstract

The Ehlers-Danlos Syndromes comprise a heterogeneous group of rare monogenic conditions that are characterized by joint hypermobility, skin and vascular fragility and generalized connective tissue friability. The latest classification recognizes 13 clinical subtypes, with mutations identified in 19 different genes. Besides defects in fibrillar collagens (collagen types I, III and V), their modifying enzymes (ADAMTS-2, lysylhydroxylase 1 (LH1)), and molecules involved in collagen folding (FKBP22), defects have recently been identified in other constituents of the extracellular matrix (e.g. Tenascin-X, collagen type XII), enzymes involved in glycosaminoglycan biosynthesis (β4GalT7 and β3GalT6), dermatan 4-O-sulfotransferase-1 (D4ST1), dermatan sulfate epimerase (DSE)), (putative) transcription factors (ZNF469, PRDM5), components of the complement pathway (C1r, C1s) and an intracellular Zinc transporter (ZIP13). Easy bruising is, to a variable degree, present in all subtypes of EDS. A variable bleeding tendency, manifesting e.g. as gum bleeding, menometrorraghia, postnatal or peri-operative hemorrhage is observed in many EDS-patients of varying EDS subtypes. Life-threatening arterial aneurysms, dissections and ruptures of medium-sized and large arteries are a hallmark of the vascular subtype of EDS, caused by a molecular defect in collagen type III, an important constituent of blood vessel walls and hollow organs. They may however also occur in other EDS subtypes, especially in classical EDS, caused by defects in type V collagen or, rarely, type I collagen, and in kyphoscoliotic EDS, caused by defects in LH1 or FKBP22. These manifestations of vascular fragility and bleeding are usually attributed to fragility of the blood vessel walls and the perivascular connective tissues, but the molecular pathomechanisms underlying these complications are poorly studied. This review summarizes current knowledge on manifestations of vascular fragility in the different EDS subtypes.

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Col3a1 deficient mice show a reduced lifespan mainly due to arterial ruptures and abnormalities of collagen fibril organization in several collagen-rich organs.
“Col3a1 deficient mice show a reduced lifespan mainly due to arterial ruptures and abnormalities of collagen fibril organization in several collagen-rich organs, i.e., aorta, skin, lung, and bowel [10].”
From Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes (2019) · cites this paper as [10]

The 2017 international classification of the Ehlers–Danlos syndromes
Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., et al. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31552 · Cited by 1,936 · see citing works
Self-citation
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type
Pepin, M., Schwarze, U., Superti-Furga, A., & Byers, P. H. (2000) · New England Journal of Medicine · doi:10.1056/nejm200003093421001 · Cited by 1,344 · see citing works
Collagens at a glance
Kadler, K., Baldock, C., Bella, J., & Boot-Handford, R. (2007) · Journal of Cell Science · doi:10.1242/jcs.03453 · Cited by 903 · see citing works
Procollagen trafficking, processing and fibrillogenesis
Canty, E. G., & Kadler, K. (2005) · Journal of Cell Science · doi:10.1242/jcs.01731 · Cited by 759 · see citing works
Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development
Liu, X., Wu, H., Byrne, M., Krane, S., & Jaenisch, R. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.5.1852 · Cited by 614 · see citing works
Collagens
Gordon, M. K., & Hahn, R. A. (2009) · Cell and Tissue Research · doi:10.1007/s00441-009-0844-4 · Cited by 548 · see citing works
Type V collagen controls the initiation of collagen fibril assembly
Wenstrup, R. J., Florer, J. B., Brunskill, E. W., Bell, S. M., Chervoneva, I., & Birk, D. E. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m409622200 · Cited by 545 · see citing works
The Family of the Small Leucine-Rich Proteoglycans: Key Regulators of Matrix Assembly and Cellular Growth
Iozzo, R. V. (1997) · Critical Reviews in Biochemistry and Molecular Biology · doi:10.3109/10409239709108551 · Cited by 501 · see citing works
The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: A 30-year experience
Oderich, G. S., Panneton, J. M., Bower, T. C., Lindor, N. M., Cherry, K. J., Noel, A. A., Kalra, M., Sullivan, T. M., & Gloviczki, P. (2005) · Journal of Vascular Surgery · doi:10.1016/j.jvs.2005.03.053 · Cited by 430 · see citing works
Type V collagen: heterotypic type I/V collagen interactions in the regulation of fibril assembly
Birk, D. E. (2001) · Micron · doi:10.1016/s0968-4328(00)00043-3 · Cited by 429 · see citing works
A Heritable Disorder of Connective Tissue: Hydroxylysine-Deficient Collagen Disease
Pinnell, S. R., Krane, S. M., Kenzora, J. E., & Glimcher, M. J. (1972) · New England Journal of Medicine · doi:10.1056/nejm197205112861901 · Cited by 414 · see citing works
Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial
Ong, K.-T., Perdu, J., Backer, J. F. A. D., Bozec, E., Collignon, P., Emmerich, J., Fauret‐Amsellem, A., Fiessinger, J., Germain, D. P., Georgesco, G., et al. (2010) · The Lancet · doi:10.1016/s0140-6736(10)60960-9 · Cited by 402 · see citing works
A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency
Schalkwijk, J., Zweers, M. C., Steijlen, P. M., Dean, W. B., Taylor, G., van Vlijmen, I. M., van Haren, B., Miller, W. L., & Bristow, J. (2001) · New England Journal of Medicine · doi:10.1056/nejmoa002939 · Cited by 391 · see citing works
Collagen type I and type V are present in the same fibril in the avian corneal stroma.
Birk, D. E., Fitch, J. M., Babiarz, J. P., & Linsenmayer, T. F. (1988) · The Journal of Cell Biology · doi:10.1083/jcb.106.3.999 · Cited by 391 · see citing works
Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome
Byers, P. H., Belmont, J., Black, J., De Backer, J., Frank, M., Jeunemaitre, X., Johnson, D., Pepin, M., Robert, L., Sanders, L., et al. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31553 · Cited by 381 · see citing works
Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene
Colige, A., Sieron, A. L., Li, S.-W., Schwarze, U., Petty, E., Wertelecki, W., Wilcox, W., Krakow, D., Cohn, D. H., Reardon, W., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302504 · Cited by 370 · see citing works
Tenascin-X deficiency is associated with Ehlers-Danlos syndrome
Burch, G. H., Gong, Y., Liu, W., Dettman, R. W., Curry, C. J., Smith, L., Miller, W. L., & Bristow, J. (1997) · Nature Genetics · doi:10.1038/ng0997-104 · Cited by 366 · see citing works
Peptidylprolyl Cis / Trans Isomerases (Immunophilins): Biological Diversity - Targets - Functions
Galat, A. (2003) · Current Topics in Medicinal Chemistry · doi:10.2174/1568026033451862 · Cited by 360 · see citing works
Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)
Pepin, M. G., Schwarze, U., Rice, K. M., Liu, M., Leistritz, & Byers, P. H. (2014) · Genetics in Medicine · doi:10.1038/gim.2014.72 · Cited by 313 · see citing works
Platelet adhesion signalling and the regulation of thrombus formation
Gibbins, J. M. (2004) · Journal of Cell Science · doi:10.1242/jcs.01325 · Cited by 296 · see citing works
Mammalian BMP-1/Tolloid-Related Metalloproteinases, Including Novel Family Member Mammalian Tolloid-Like 2, Have Differential Enzymatic Activities and Distributions of Expression Relevant to Patterning and Skeletogenesis
Scott, I. C., Blitz, I. L., Pappano, W. N., Imamura, Y., Clark, T. G., Steiglitz, B. M., Thomas‐Virnig, C. L., Maas, S. A., Takahara, K., Cho, K. W. Y., et al. (1999) · Developmental Biology · doi:10.1006/dbio.1999.9383 · Cited by 278 · see citing works
Type III collagen can be present on banded collagen fibrils regardless of fibril diameter.
Keene, D. R., Sakai, L. Y., Bächinger, H. P., & Burgeson, R. E. (1987) · The Journal of Cell Biology · doi:10.1083/jcb.105.5.2393 · Cited by 272 · see citing works
The Ehlers–Danlos syndromes, rare types
Brady, A. F., Demirdas, S., Fournel‐Gigleux, S., Ghali, N., Giunta, C., Kapferer‐Seebacher, I., Kosho, T., Mendoza‐Londono, R., Pope, M. F., Rohrbach, M., et al. (2017) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31550 · Cited by 249 · see citing works
Self-citation
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome
Frank, M., Albuisson, J., Ranque, B., Golmard, L., Mazzella, J.-M., Bal-Theoleyre, L., Fauret, A.-L., Mirault, T., Denarié, N., Mousseaux, E., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.32 · Cited by 248 · see citing works
Decorin interacting network: A comprehensive analysis of decorin-binding partners and their versatile functions
Gubbiotti, M. A., Vallet, S. D., Ricard‐Blum, S., & Iozzo, R. V. (2016) · Matrix Biology · doi:10.1016/j.matbio.2016.09.009 · Cited by 230 · see citing works
Another look at collagen V and XI molecules
Fichard, A., Kleman, J.-P., & Ruggiero, F. (1995) · Matrix Biology · doi:10.1016/s0945-053x(05)80001-0 · Cited by 218 · see citing works
Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.
Pihlajaniemi, T. A., Dickson, L. A., Pope, F. M., KORHONEN, V. R., Nicholls, A. C., Prockop, D. J., & Myers, J. C. (1984) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)90635-6 · Cited by 209 · see citing works
Ehlers-Danlos syndrome, classical type
Bowen, J. M., Sobey, G. J., Burrows, N. P., Colombi, M., Lavallee, M. E., Malfait, F., & Francomano, C. A. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31548 · Cited by 184 · see citing works
Self-citation
Pregnancy-related deaths and complications in women with vascular Ehlers–Danlos syndrome
Murray, M. L., Pepin, M. G., Peterson, S., & Byers, P. H. (2014) · Genetics in Medicine · doi:10.1038/gim.2014.53 · Cited by 183 · see citing works
A molecular ensemble in the rER for procollagen maturation
Ishikawa, Y., & Bächinger, H. P. (2013) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2013.04.008 · Cited by 176 · see citing works
Murine Model of the Ehlers-Danlos Syndrome
WENSTRUP, R. J., Florer, J. B., Davidson, J. M., Phillips, C. L., Pfeiffer, B. J., Menezes, D. W., Chervoneva, I., & Birk, D. E. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m511528200 · Cited by 173 · see citing works
cDNA cloning and expression of bovine procollagen I N-proteinase: A new member of the superfamily of zinc-metalloproteinases with binding sites for cells and other matrix components
Colige, A., Li, S., Sieroń, A. L., Nusgens, B., Prockop, D. J., & Lapiere, C. M. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.6.2374 · Cited by 171 · see citing works
Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen
Nuytinck, L., Freund, M., Lagae, L., Pierard, G. E., Hermanns-Le, T., & De Paepe, A. (2000) · The American Journal of Human Genetics · doi:10.1086/302859 · Cited by 169 · see citing works
Neuromuscular involvement in various types of Ehlers–Danlos syndrome
Voermans, N. C., van Alfen, N., Pillen, S., Lammens, M. M. Y., Schalkwijk, J., Zwarts, M. J., van Rooij, I. A. L. M., Hamel, B. C. J., & van Engelen, B. G. M. (2009) · Annals of Neurology · doi:10.1002/ana.21643 · Cited by 168 · see citing works
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood
Malfait, F., Symoens, S., De Backer, J., Hermanns-Lê, T., Sakalihasan, N., Lapière, C. M., Coucke, P., & De Paepe, A. (2007) · Human Mutation · doi:10.1002/humu.20455 · Cited by 167 · see citing works
Self-citation
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria
Symoens, S., Syx, D., Malfait, F., Callewaert, B., De Backer, J., Vanakker, O., Coucke, P., & De Paepe, A. (2012) · Human Mutation · doi:10.1002/humu.22137 · Cited by 165 · see citing works
Self-citation
The procollagen N-proteinases ADAMTS2, 3 and 14 in pathophysiology
Bekhouche, M., & Colige, A. (2015) · Matrix Biology · doi:10.1016/j.matbio.2015.04.001 · Cited by 163 · see citing works
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
Baumann, M., Giunta, C., Krabichler, B., Rüschendorf, F., Zoppi, N., Colombi, M., Bittner, R. E., Quijano-Roy, S., Muntoni, F., Cirak, S., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.12.004 · Cited by 162 · see citing works
Bone morphogenetic protein-1 and a mammalian tolloid homologue (mTld) are encoded by alternatively spliced transcripts which are differentially expressed in some tissues.
Takahara, K., Lyons, G. E., & Greenspan, D. S. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)31672-7 · Cited by 159 · see citing works
Lysyl-Protocollagen Hydroxylase Deficiency in Fibroblasts from Siblings with Hydroxylysine-Deficient Collagen
Krane, S. M., Pinnell, S. R., & Erbe, R. W. (1972) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.69.10.2899 · Cited by 157 · see citing works
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome
Miyake, N., Kosho, T., Mizumoto, S., Furuichi, T., Hatamochi, A., Nagashima, Y., Arai, E., Takahashi, K., Kawamura, R., Wakui, K., et al. (2010) · Human Mutation · doi:10.1002/humu.21300 · Cited by 156 · see citing works
Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I?IV as a means of diagnostics and classification
Haußer, I., & Anton‐Lamprecht, I. (1994) · Human Genetics · doi:10.1007/bf00201664 · Cited by 146 · see citing works
Prevalence of aortic root dilation in the Ehlers-Danlos syndrome
WENSTRUP, R. J., Meyer, R. A., Lyle, J. S., Hoechstetter, L., Rose, P. S., Levy, H. P., & Francomano, C. A. (2002) · Genetics in Medicine · doi:10.1097/00125817-200205000-00003 · Cited by 144 · see citing works
Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder
Malfait, F., Kariminejad, A., Van Damme, T., Gauche, C., Syx, D., Merhi-Soussi, F., Gulberti, S., Symoens, S., Vanhauwaert, S., Willaert, A., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.04.016 · Cited by 142 · see citing works
Self-citation
Null Alleles of the COL5A1 Gene of Type V Collagen Are a Cause of the Classical Forms of Ehlers-Danlos Syndrome (Types I and II)
Schwarze, U., Atkinson, M., Hoffman, G. G., Greenspan, D. S., & Byers, P. H. (2000) · The American Journal of Human Genetics · doi:10.1086/302933 · Cited by 136 · see citing works
Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: Identification of 18 COL5A1 and 2 COL5A2 novel mutations
Ritelli, M., Dordoni, C., Venturini, M., Chiarelli, N., Quinzani, S., Traversa, M., Zoppi, N., Vascellaro, A., Wischmeijer, A., Manfredini, E., et al. (2013) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-8-58 · Cited by 134 · see citing works
Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes
Shalhub, S., Black, J. H., Cecchi, A. C., Zhi, X., Griswold, B. F., Safi, H. J., Milewicz, D. M., & McDonnell, N. B. (2014) · Journal of Vascular Surgery · doi:10.1016/j.jvs.2014.01.070 · Cited by 131 · see citing works
Copolymerization of pNcollagen III and collagen I. pNcollagen III decreases the rate of incorporation of collagen I into fibrils, the amount of collagen I incorporated, and the diameter of the fibrils formed
Romanic, A. M., Adachi, E., Kadler, K. E., Hojima, Y., & Prockop, D. J. (1991) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)98956-8 · Cited by 130 · see citing works
COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS
WENSTRUP, R. J., Florer, J. B., Willing, M. C., Giunta, C., Steinmann, B. U., Young, F., Susic, M., & Cole, W. G. (2000) · The American Journal of Human Genetics · doi:10.1086/302930 · Cited by 128 · see citing works
Domains and Maturation Processes That Regulate the Activity of ADAMTS-2, a Metalloproteinase Cleaving the Aminopropeptide of Fibrillar Procollagens Types I–III and V
Colige, A., Ruggiero, F., Vandenberghe, I. H. M., Dubail, J., Kesteloot, F., BEEUMEN, J. V., Beschin, A., Brys, L., Lapiere, C. M., & Nusgens, B. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m506458200 · Cited by 125 · see citing works
Ehlers-Danlos syndrome type VI: Clinical manifestations of collagen lysyl hydroxylase deficiency
Wenstrup, R. J., Murad, S., & Pinnell, S. R. (1989) · The Journal of Pediatrics · doi:10.1016/s0022-3476(89)80839-x · Cited by 124 · see citing works
Characterization of the interactions of type XII collagen with two small proteoglycans from fetal bovine tendon, decorin and fibromodulin
Font, B., Eichenberger, D., Rosenberg, L. M., & REST, M. V. D. (1996) · Matrix Biology · doi:10.1016/s0945-053x(96)90137-7 · Cited by 123 · see citing works
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement
Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.08.019 · Cited by 123 · see citing works
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene
Malfait, F., Syx, D., Vlummens, P., Symoens, S., Nampoothiri, S., Hermanns-Lê, T., Van Laer, L., & De Paepe, A. (2010) · Human Mutation · doi:10.1002/humu.21355 · Cited by 122 · see citing works
Self-citation
The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta.
Nicholls, A. C., Osse, G., Schloon, H., Lenard, H. G., Deak, S. B., Myers, J. C., Prockop, D. J., Weigel, W. R., Fryer, P. R., & Pope, F. M. (1984) · Journal of Medical Genetics · doi:10.1136/jmg.21.4.257 · Cited by 121 · see citing works
Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI.
Steinmann, B., Eyre, D. R., & Shao, P. (1995) · PubMed · Cited by 113 · see citing works
A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers–Danlos syndrome type VI
Hyland, J. C., Ala‐Kokko, L., Royce, P., Steinmann, B. U., Kivirikko, K. I., & Myllylä, R. (1992) · Nature Genetics · doi:10.1038/ng1192-228 · Cited by 110 · see citing works
Transforming Growth Factor-β Induces Secretion of Activated ADAMTS-2
Wang, W.-M., Lee, S., Steiglitz, B. M., Scott, I. C., Lebares, C. C., Allen, M. L., Brenner, M. C., Takahara, K., & Greenspan, D. S. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m300767200 · Cited by 109 · see citing works
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
Rohrbach, M., Vandersteen, A., Yiş, U., Serdaroglu, G., Ataman, E., Chopra, M., Garcia, S., Jones, K., Kariminejad, A., Kraenzlin, M., et al. (2011) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-6-46 · Cited by 106 · see citing works
Collagen XII Interacts with Avian Tenascin-X through Its NC3 Domain*
Veit, G., Hansen, U., Keene, D., Bruckner, P., Chiquet-Ehrismann, R., Chiquet, M., & Koch, M. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m603147200 · Cited by 104 · see citing works
Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers–Danlos syndrome
Müller, T., Mizumoto, S., Suresh, I., Komatsu, Y., Vodopiutz, J., Dündar, M., Straub, V. W., Lingenhel, A., Melmer, A., Lechner, S., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt227 · Cited by 103 · see citing works
Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis
Smith, L. T., Schwarze, U., Goldstein, J., & Byers, P. H. (1997) · Journal of Investigative Dermatology · doi:10.1111/1523-1747.ep12286441 · Cited by 99 · see citing works
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome
Malfait, F., Symoens, S., Goemans, N., Gyftodimou, Y., Holmberg, E., López‐González, V., Mortier, G. R., Nampoothiri, S., Petersen, M. B., & Paepe, A. D. (2013) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-8-78 · Cited by 98 · see citing works
Self-citation
Bleeding in the heritable connective tissue disorders: Mechanisms, diagnosis and treatment
Malfait, F., & Paepe, A. D. (2009) · Blood Reviews · doi:10.1016/j.blre.2009.06.001 · Cited by 94 · see citing works
Self-citation
Echocardiographic findings in classical and hypermobile Ehlers–Danlos syndromes
McDonnell, N. B., Gorman, B. L., Mandel, K. W., Schurman, S. H., Assanah‐Carroll, A., Mayer, S. A., Najjar, S. S., & Francomano, C. A. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31035 · Cited by 92 · see citing works
Tissue-specific Changes in the Hydroxylysine Content and Cross-links of Collagens and Alterations in Fibril Morphology in Lysyl Hydroxylase 1 Knock-out Mice
Takaluoma, K., Hyry, M., Lantto, J., Sormunen, R. T., Bank, R. A., Kivirikko, K. I., Myllyharju, J., & Soininen, R. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m608830200 · Cited by 91 · see citing works
A new Ehlers–Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility‐related manifestations
Kosho, T., Miyake, N., Hatamochi, A., Takahashi, J., Kato, H., Miyahara, T., Igawa, Y., Yasui, H., Ishida, T., Ono, K., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33498 · Cited by 88 · see citing works
Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the alpha 1(I) chain of type I collagen
Mayer, S. A., Rubin, B. S., Starman, B. J., & Byers, P. H. (1996) · Neurology · doi:10.1212/wnl.47.2.552 · Cited by 86 · see citing works
Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis
Syx, D., Van Damme, T., Symoens, S., Maiburg, M. C., van de Laar, I., Morton, J., Suri, M., Del Campo, M., Hausser, I., Hermanns-Lê, T., et al. (2015) · Human Mutation · doi:10.1002/humu.22774 · Cited by 84 · see citing works
Self-citation
Cross-Sectional and Longitudinal Assessment of Aortic Root Dilation and Valvular Anomalies in Hypermobile and Classic Ehlers-Danlos Syndrome
Atzinger, C. L., Meyer, R. A., Khoury, P. R., Gao, Z., & Tinkle, B. T. (2011) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2010.11.023 · Cited by 83 · see citing works
Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndrome
Smith, L. B., Hadoke, P. W. F., Dyer, E., Denvir, M. A., Brownstein, D., Miller, E., Nelson, N., Wells, S., Cheeseman, M., & Greenfield, A. (2011) · Cardiovascular Research · doi:10.1093/cvr/cvq356 · Cited by 81 · see citing works
Untitled work
(1977) · PubMed · Cited by 79 · see citing works
Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model
D'hondt, S., Guillemyn, B., Syx, D., Symoens, S., De Rycke, R., Vanhoutte, L., Toussaint, W., Lambrecht, B. N., De Paepe, A., Keene, D. R., et al. (2018) · Matrix Biology · doi:10.1016/j.matbio.2018.03.008 · Cited by 79 · see citing works
Self-citation
Mutation analysis of the PLOD1 gene: An efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA)
Giunta, C., Randolph, A. E., & Steinmann, B. U. (2005) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2005.04.014 · Cited by 78 · see citing works
Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type
Chiarelli, N., Carini, G., Zoppi, N., Dordoni, C., Ritelli, M., Venturini, M., Castori, M., & Colombi, M. (2016) · PLOS ONE · doi:10.1371/journal.pone.0161347 · Cited by 78 · see citing works
Serious ophthalmological complications in the Ehlers-Danlos syndrome.
Beighton, P. (1970) · British Journal of Ophthalmology · doi:10.1136/bjo.54.4.263 · Cited by 75 · see citing works
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers–Danlos syndrome (EDS VIA)
Giunta, C., Randolph, A. E., Al‐Gazali, L. I., Brunner, H. G., KRAENZLIN, M. E., & Steinmann, B. U. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30529 · Cited by 70 · see citing works
Ehlers–Danlos syndrome: A showcase of conditions that lead to understanding matrix biology
Byers, P. H., & Murray, M. L. (2014) · Matrix Biology · doi:10.1016/j.matbio.2013.07.005 · Cited by 68 · see citing works
Tenascin‐X deficiency in autosomal recessive Ehlers–Danlos syndrome
Lindor, N. M., & Bristow, J. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30671 · Cited by 67 · see citing works
Y-position cysteine substitution in type I collagen (α1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype
Cabral, W. A., Makareeva, E., Letocha, A. D., Scribanu, N., Fertala, A., Steplewski, A., Keene, D. R., Persikov, A. V., Leikin, S., & Marini, J. C. (2007) · Human Mutation · doi:10.1002/humu.20456 · Cited by 67 · see citing works
Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein
States, J. C., McDuffie, E. R., Myrand, S., McDowell, M., & Cleaver, J. E. (1998) · Human Mutation · doi:10.1002/(sici)1098-1004(1998)12:2 · Cited by 66 · see citing works
The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations
Janecke, A. R., Li, B., Boehm, M., Krabichler, B., Rohrbach, M., Müller, T., Fuchs, I., Golas, G., Katagiri, Y., Ziegler, S. G., et al. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37383 · Cited by 66 · see citing works
Interactions of human tenascin-X domains with dermal extracellular matrix molecules
Egging, D. F., van den Berkmortel, F., Taylor, G. D., Bristow, J., & Schalkwijk, J. (2006) · Archives of Dermatological Research · doi:10.1007/s00403-006-0706-9 · Cited by 66 · see citing works
Diversity in the processing events at the N‐terminus of type‐V collagen
Moradi‐Améli, M., Rousseau, J., Kleman, J.-P., Champliaud, M.-F., Boutillon, M., Bernillon, J., Wallach, J., & REST, M. V. D. (1994) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1994.tb18815.x · Cited by 64 · see citing works
Familial Ehlers‐Danlos syndrome with lethal arterial events caused by a mutation in COL5A1
Monroe, G. R., Harakaľová, M., van der Crabben, S. N., Majoor‐Krakauer, D. F., Bertoli‐Avella, A. M., Moll, F. L., Oranen, B. I., Dooijes, D., Vink, A., Knoers, N. V. A. M., et al. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36997 · Cited by 61 · see citing works
Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients
Demirdas, S., Dulfer, E., Robert, L., Kempers, M., van Beek, D., Micha, D., van Engelen, B. G., Hamel, B., Schalkwijk, J., Loeys, B., et al. (2017) · Clinical Genetics · doi:10.1111/cge.12853 · Cited by 60 · see citing works
Arterial rupture in classic Ehlers–Danlos syndrome with COL5A1 mutation
Borck, G., Beighton, P., Wilhelm, C., Kohlhase, J., & Kubisch, C. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33541 · Cited by 59 · see citing works
A substrate preference for the rough endoplasmic reticulum resident protein FKBP22 during collagen biosynthesis
Ishikawa, Y., & Bächinger, H. P. (2014) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.561944 · Cited by 52 · see citing works
Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome
Plancke, A., Holder‐Espinasse, M., Rigau, V., Manouvrier‐Hanu, S., Claustres, M., & Kien, P. K. V. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.76 · Cited by 51 · see citing works
Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome
Morissette, R., Schoenhoff, F., Xu, Z., Shilane, D. A., Griswold, B. F., Chen, W., Yang, J., Zhu, J., Fert-Bober, J., Sloper, L., et al. (2014) · Circulation: Cardiovascular Genetics · doi:10.1161/circgenetics.113.000280 · Cited by 51 · see citing works
The Haploinsufficient Col3a1 Mouse as a Model for Vascular Ehlers-Danlos Syndrome
Cooper, T. K., Zhong, Q., Krawczyk, M., Tae, H.-J., Müller, G. A., Schubert, R., Myers, L. A., Dietz, H. C., Talan, M. I., & Briest, W. (2010) · Veterinary Pathology · doi:10.1177/0300985810374842 · Cited by 51 · see citing works
Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type
Van Damme, T., Colige, A., Syx, D., Giunta, C., Lindert, U., Rohrbach, M., Aryani, O., Alanay, Y., Simsek-Kiper, P. Ö., Kroes, H. Y., et al. (2016) · Genetics in Medicine · doi:10.1038/gim.2015.188 · Cited by 51 · see citing works
Self-citation
Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts
Vandervore, L. V., Stouffs, K., Tanyalçin, I., Vanderhasselt, T., Roelens, F., Holder‐Espinasse, M., Jørgensen, A., Pepin, M. G., Petit, F., Kien, P. K. V., et al. (2017) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-104421 · Cited by 47 · see citing works
Vascular Ehlers–Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family
Jørgensen, A., Fagerheim, T., Rand‐Hendriksen, S., Lunde, P. I., Vorren, T., Pepin, M. G., Leistritz, D. F., & Byers, P. H. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.181 · Cited by 46 · see citing works
A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history
Giunta, C., Baumann, M., Fauth, C., Lindert, U., Abdalla, E. M., Brady, A. F., Collins, J. J., Dastgir, J., Donkervoort, S. C., Ghali, N., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.70 · Cited by 44 · see citing works
Superior mesenteric artery aneurysm in a 9‐year‐old boy with classical Ehlers–Danlos syndrome
de Leeuw, K., Goorhuis, J. F., Tielliu, I. F. J., Symoens, S., Malfait, F., Paepe, A. D., van Tintelen, J. P., & Hulscher, J. B. F. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34420 · Cited by 42 · see citing works
Self-citation
Deficits in Col5a2 Expression Result in Novel Skin and Adipose Abnormalities and Predisposition to Aortic Aneurysms and Dissections
Park, A. C., Phan, N., Massoudi, D., Liu, Z., Kernien, J. F., Adams, S. M., Davidson, J. M., Birk, D. E., Liu, B., & Greenspan, D. S. (2017) · The American Journal of Pathology · doi:10.1016/j.ajpath.2017.06.006 · Cited by 40 · see citing works
Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about
Karaa, A., & Stoler, J. M. (2013) · Case Reports in Pediatrics · doi:10.1155/2013/764659 · Cited by 39 · see citing works
Angiotensin II Promotes Thoracic Aortic Dissections and Ruptures in Col3a1 Haploinsufficient Mice
Faugeroux, J., Nematalla, H., Li, W., Clément, M., Robidel, E., Frank, M., Curis, E., Ait‐Oufella, H., Caligiuri, G., Nicoletti, A., et al. (2013) · Hypertension · doi:10.1161/hypertensionaha.111.00974 · Cited by 37 · see citing works
Common Iliac Artery Aneurysm and Spontaneous Dissection with Contralateral Iatrogenic Common Iliac Artery Dissection in Classic Ehlers-Danlos Syndrome
Mehta, S., Dhar, S. U., & Birnbaum, Y. (2012) · International Journal of Angiology · doi:10.1055/s-0032-1325118 · Cited by 36 · see citing works
3? polymorphisms of ETS1 are associated with different clinical phenotypes in SLE
Sullivan, K. E., Piliero, L. M., Dharia, T., GOLDMAN, D. W., & Petri, M. (2000) · Human Mutation · doi:10.1002/1098-1004(200007)16:1 · Cited by 36 · see citing works
Spontaneous Ruptured Dissection of the Right Common Iliac Artery in a Patient with Classic Ehlers–Danlos Syndrome Phenotype
Gaines, R., Tinkle, B. T., Halandras, P. M., Al-Nouri, O., Crisostomo, P., & Cho, J. S. (2015) · Annals of Vascular Surgery · doi:10.1016/j.avsg.2014.10.036 · Cited by 34 · see citing works
A role for adhesion and degranulation‐promoting adapter protein in collagen‐induced platelet activation mediated via integrin α2β1
Jarvis, G. E., Bihan, D. G., Hamaia, S. W., Pugh, N., Ghevaert, C., Pearce, A. C., Hughes, C. E., Watson, S. P., Ware, J. L., Rudd, C. E., et al. (2011) · Journal of Thrombosis and Haemostasis · doi:10.1111/j.1538-7836.2011.04567.x · Cited by 33 · see citing works
The chaperone protein HSP47: a platelet collagen binding protein that contributes to thrombosis and hemostasis
Sasikumar, P., AlOuda, K. S., Kaiser, W. J., Holbrook, L., Kriek, N., Unsworth, A. J., Bye, A. P., Sage, T., Ushioda, R., Nagata, K., et al. (2018) · Journal of Thrombosis and Haemostasis · doi:10.1111/jth.13998 · Cited by 33 · see citing works
Allele‐specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers‐Danlos syndrome in human fibroblasts
Müller, G. A., Hansen, U. J., Zhi, X., Griswold, B. F., Talan, M. I., McDonnell, N. B., & Briest, W. (2011) · The FASEB Journal · doi:10.1096/fj.11-182162 · Cited by 32 · see citing works
Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI.
Dembure, P. P., Priest, J. H., Snoddy, S. C., & Elsas, L. J. (1984) · Europe PMC (PubMed Central) · Cited by 30 · see citing works
Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome–Related Phenotype
Park, A. C., Phillips, C. L., Pfeiffer, F. M., Roenneburg, D. A., Kernien, J. F., Adams, S. M., Davidson, J. M., Birk, D. E., & Greenspan, D. S. (2015) · American Journal Of Pathology · doi:10.1016/j.ajpath.2015.03.022 · Cited by 29 · see citing works
A novel arginine‐to‐cysteine substitution in the triple helical region of the α1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers–Danlos phenotype
Lund, A. M., Joensen, F., Christensen, E., Dunø, M., Skovby, F., & Schwartz, M. (2007) · Clinical Genetics · doi:10.1111/j.1399-0004.2007.00926.x · Cited by 29 · see citing works
Chronic Treatment with a Broad-Spectrum Metalloproteinase Inhibitor, Doxycycline, Prevents the Development of Spontaneous Aortic Lesions in a Mouse Model of Vascular Ehlers-Danlos Syndrome
Tae, H., Marshall, S. A., Zhang, J., Wang, M., Briest, W., & Talan, M. I. (2012) · Journal of Pharmacology and Experimental Therapeutics · doi:10.1124/jpet.112.197020 · Cited by 29 · see citing works
Well-defined clinical presentation of Ehlers–Danlos syndrome in patients with tenascin-X deficiency: a report of four cases
Hendriks, A. G. M., Voermans, N., Schalkwijk, J., Hamel, B., & van Rossum, M. V. (2012) · Clinical Dysmorphology · doi:10.1097/mcd.0b013e32834c4bb7 · Cited by 29 · see citing works
Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities
Horn, D., Siebert, E., Seidel, U., Rost, I., Mayer, K., Jamra, R. A., Mitter, D., & Kornak, U. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38345 · Cited by 29 · see citing works
FKBP14 ‐related Ehlers‐Danlos syndrome: Expansion of the phenotype to include vascular complications
Murray, M. L., Yang, M., Fauth, C., & Byers, P. H. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36492 · Cited by 24 · see citing works
A Case of Ehlers-Danlos Syndrome Type VIA With a Novel PLOD1 Gene Mutation
Tosun, A. F., Kurtgöz, S., Dursun, Ş., & Bozkurt, G. (2014) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2014.06.020 · Cited by 24 · see citing works
Doxycycline Ameliorates the Susceptibility to Aortic Lesions in a Mouse Model for the Vascular Type of Ehlers-Danlos Syndrome
Briest, W., Cooper, T. K., Tae, H.-J., Krawczyk, M., McDonnell, N. B., & Talan, M. I. (2011) · Journal of Pharmacology and Experimental Therapeutics · doi:10.1124/jpet.110.177782 · Cited by 23 · see citing works
Successful Endovascular Treatment of a Ruptured Superior Mesenteric Artery in a Patient with Ehlers‒Danlos Syndrome
Yasuda, S., Imoto, K., Uchida, K., Machida, D., Yanagi, H., Sugiura, T., Kurosawa, K., & Masuda, M. (2013) · Annals of Vascular Surgery · doi:10.1016/j.avsg.2013.01.004 · Cited by 22 · see citing works
Further delineation of FKBP14‐related Ehlers–Danlos syndrome: A patient with early vascular complications and non‐progressive kyphoscoliosis, and literature review
Dordoni, C., Ciaccio, C., Venturini, M., Calzavara‐Pinton, P., Ritelli, M., & Colombi, M. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37728 · Cited by 20 · see citing works
Evidence that the collagen in the culture medium of Chinese hamster lung cells contains components related at the primary structural level to the α1(V) collagen chain
Haralson, M. A., Mitchell, W. M., Rhodes, R. K., & Miller, E. J. (1984) · Archives of Biochemistry and Biophysics · doi:10.1016/0003-9861(84)90182-6 · Cited by 19 · see citing works
Spontaneous Brachial Pseudo-aneurysm in a 12-year-old with Kyphoscoliosis-type Ehlers–Danlos Syndrome
Gök, E., Göksel, O., Alpagut, U., & Dayıoğlu, E. (2012) · European Journal of Vascular and Endovascular Surgery · doi:10.1016/j.ejvs.2012.08.004 · Cited by 17 · see citing works
A Common Duplication in the Lysyl Hydroxylase Gene of Patients with Ehlers Danlos Syndrome Type VI Results in Preferential Stimulation of Lysyl Hydroxylase Activity and mRNA by Hydralazine
Yeowell, H. N., Walker, L. C., Murad, S., & Pinnell, S. R. (1997) · Archives of Biochemistry and Biophysics · doi:10.1006/abbi.1997.0319 · Cited by 13 · see citing works
Critical care of kyphoscoliotic type Ehlers-Danlos syndrome with recurrent vascular emergencies
Busch, A., Suellner, J., Anger, F., Meir, M., Kickuth, R., Lorenz, U., & Wildenauer, R. (2014) · VASA · doi:10.1024/0301-1526/a000352 · Cited by 11 · see citing works
Ultrastructural scoring of skin biopsies for diagnosis of vascular Ehlers–Danlos syndrome
Ong, K.-T., Plauchu, H., Peyrol, S., Roux, É., Errazuriz-Cerda, E., Kien, P. K. V., Arbeille, B., Gaulier, A., Georgescou, G., Collignon, P., et al. (2012) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s00428-012-1233-z · Cited by 11 · see citing works
Biochemical investigation of cells from keratoconus and normal cornea
Ihme, A., Krieg, T., Müller, R. K., & Wollensak, J. (1983) · Experimental Eye Research · doi:10.1016/0014-4835(83)90100-8 · Cited by 10 · see citing works
A case of Ehlers Danlos syndrome type VI.
Salavoura, K., Valari, M., Kolialexi, A., Mavrou, A., & Kitsiou, S. (2006) · PubMed · Cited by 8 · see citing works
Treatment of Aneurysmal Aberrant Right Subclavian Artery with Triple-Barrel Stent Graft
Schwein, A., Georg, Y., Ohana, M., Delay, C., Lejay, A., Thaveau, F., & Chakfé, N. (2015) · Annals of Vascular Surgery · doi:10.1016/j.avsg.2014.10.035 · Cited by 8 · see citing works
A Hotspot Splicing Mutation in LEPREI Affects Prolyl 3-hydroxylation and Causes Recessive Osteogenesis Imperfecta
Willaert, A., Symoens, S., Malfait, F., Gevaert, K., Coucke, P. J., & Paepe, A. D. (2008) · Ghent University Academic Bibliography (Ghent University) · Cited by 1 · see citing works
Self-citation
A hotspot splicing mutation in LEPREI affects prolyl 3-hydroxylation and causes recessive osteogenesis imperfecta
Malfait, F., Willaert, A., Symoens, S., Coucke, P. J., & Paepe, A. D. (2008) · Ghent University Academic Bibliography (Ghent University) · Cited by 1 · see citing works
Self-citation
Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997
Beighton, P., Paepe, A. D., Steinmann, B., Tsipouras, P., & Wenstrup, R. J. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980428)77:1

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Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases
Kuivaniemi, H., & Tromp, G. C. (2019) · Gene · doi:10.1016/j.gene.2019.05.003 · Cited by 431 · see citing works
Intracranial Aneurysms: Pathology, Genetics, and Molecular Mechanisms
Xu, Z., Rui, Y., Hagan, J. P., & Kim, D. (2019) · NeuroMolecular Medicine · doi:10.1007/s12017-019-08537-7 · Cited by 155 · see citing works
Extracellular matrix dynamics in vascular remodeling
Ma, Z., Mao, C., Jia, Y., Fu, Y., & Kong, W. (2020) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00147.2020 · Cited by 129 · see citing works
Type III collagen is a key regulator of the collagen fibrillar structure and biomechanics of articular cartilage and meniscus
Wang, C., Brisson, B. K., Terajima, M., Li, Q., Hoxha, K., Han, B., Goldberg, A., Liu, X. S., Marcolongo, M. S., Enomoto‐Iwamoto, M., et al. (2019) · Matrix Biology · doi:10.1016/j.matbio.2019.10.001 · Cited by 123 · see citing works
The Mechanism and Role of ADAMTS Protein Family in Osteoarthritis
Li, T., Peng, J., Li, Q., Shu, Y., Zhu, P., & Hao, L. (2022) · Biomolecules · doi:10.3390/biom12070959 · Cited by 109 · see citing works
Biology and Biomechanics of the Heart Valve Extracellular Matrix
Kodigepalli, K. M., Thatcher, K., West, T. M., Howsmon, D. P., Schöen, F. J., Sacks, M. S., Breuer, C. K., & Lincoln, J. (2020) · Journal of Cardiovascular Development and Disease · doi:10.3390/jcdd7040057 · Cited by 87 · see citing works
Dual function of perivascular fibroblasts in vascular stabilization in zebrafish
Rajan, A. M., Ma, R. C., Kocha, K. M., Zhang, D. J., & Huang, P. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1008800 · Cited by 86 · see citing works
Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes
Chiarelli, N., Ritelli, M., Zoppi, N., & Colombi, M. (2019) · Genes · doi:10.3390/genes10080609 · Cited by 82 · see citing works
Genetic basis of hereditary thoracic aortic aneurysms and dissections
Takeda, N., & Komuro, I. (2019) · Journal of Cardiology · doi:10.1016/j.jjcc.2019.03.014 · Cited by 76 · see citing works
Aggrecan in Cardiovascular Development and Disease
Koch, C. D., Lee, C. M., & Apte, S. (2020) · Journal of Histochemistry & Cytochemistry · doi:10.1369/0022155420952902 · Cited by 72 · see citing works
Vascular smooth muscle cell‐specific progerin expression in a mouse model of Hutchinson–Gilford progeria syndrome promotes arterial stiffness: Therapeutic effect of dietary nitrite
del Campo, L., Sánchez‐López, A., Salaíces, M., von Kleeck, R. A., Expósito, E., González‐Gómez, C., Cussó, L., Guzmán, G., Ruı́z-Cabello, J., Desco, M., et al. (2019) · Aging Cell · doi:10.1111/acel.12936 · Cited by 66 · see citing works
Ehlers-Danlos syndromes
Ghali, N., Sobey, G. J., & Burrows, N. (2019) · BMJ · doi:10.1136/bmj.l4966 · Cited by 60 · see citing works
A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia
Richer, J., Hill, H. L., Wang, Y., Yang, M., Hunker, K. L., Lane, J., Blackburn, S. A., Coleman, D. M., Eliason, J. L., Sillon, G., et al. (2020) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.119.313885 · Cited by 51 · see citing works
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives
Ritelli, M., Venturini, M., Cinquina, V., Chiarelli, N., & Colombi, M. (2020) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-020-01470-0 · Cited by 47 · see citing works
High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations
Scimone, C., Donato, L., Alafaci, C., Granata, F., Rinaldi, C., Longo, M., D’Angelo, R., & Sidoti, A. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.00146 · Cited by 45 · see citing works
Ehlers-Danlos syndromes: state of the art on clinical practice guidelines
Sulli, A., Talarico, R., Scirè, C. A., Avcin, T., Castori, M., Ferraris, A., Frank, C., Grunert, J., Paolino, S., Bombardieri, S., et al. (2018) · RMD Open · doi:10.1136/rmdopen-2018-000790 · Cited by 44 · see citing works
“It has become clear that various molecular pathways are involved in the aetiology of these disorders, as many EDS variants are caused by mutations in genes involved in collagen biogenesis and in that of other molecules of the extracellular matrix, such as tenascin-X.(1) 4 Many patients with EDS, however, still remain…”
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Collagen COL22A1 maintains vascular stability and mutations in COL22A1 are potentially associated with intracranial aneurysms
Ton, Q. V., Leino, D., Mowery, S., Bredemeier, N. O., Lafontant, P. J., Lubert, A., Gurung, S., Farlow, J., Foroud, T., Broderick, J., et al. (2018) · Disease Models & Mechanisms · doi:10.1242/dmm.033654 · Cited by 16 · see citing works
Four decades in the making: Collagen III and mechanisms of vascular Ehlers Danlos Syndrome
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Comparative analysis of thoracic and abdominal aortic aneurysms across the segment and species at the single-cell level
Wu, H., Xie, C., Wang, R., Cheng, J., Xu, Q., & Zhao, H. (2023) · Frontiers in Pharmacology · doi:10.3389/fphar.2022.1095757 · Cited by 34 · see citing works
Prospective clinical investigations of children with periodontal Ehlers–Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature
Kapferer‐Seebacher, I., Oakley-Hannibal, E., Lepperdinger, U., Johnson, D. S., Ghali, N., Brady, A. F., Sobey, G. J., Zschocke, J., & van Dijk, F. S. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-00985-y · Cited by 34 · see citing works
Inhibition of TGF ‐β Increases Bone Volume and Strength in a Mouse Model of Osteogenesis Imperfecta
Greene, B., Russo, R. J., Dwyer, S. C., Malley, K., Roberts, E., Serrielo, J., Piepenhagen, P. A., Cummings, S., Ryan, S., Zarazinski, C., et al. (2021) · JBMR Plus · doi:10.1002/jbm4.10530 · Cited by 31 · see citing works
Placing joint hypermobility in context: traits, disorders and syndromes
Morlino, S., & Castori, M. (2023) · British Medical Bulletin · doi:10.1093/bmb/ldad013 · Cited by 31 · see citing works
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility
Ghali, N., Baker, D., Brady, A. F., Burrows, N., Cervi, E., Cilliers, D. D., Frank, M., Germain, D. P., HULMES, D. J. S., Jacquemont, M., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0470-9 · Cited by 28 · see citing works
Type I and type V procollagen triple helix uses different subsets of the molecular ensemble for lysine posttranslational modifications in the rER
Ishikawa, Y., Taga, Y., Zientek, K. D., Mizuno, N., Salo, A. M., Semenova, O., Tufa, S. F., Keene, D. R., Holden, P. K., Mizuno, K., et al. (2021) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2021.100453 · Cited by 27 · see citing works
Electron microscopy in the diagnosis of Ehlers–Danlos syndromes: correlation with clinical and genetic investigations
Angwin, C., Ghali, N., Baker, D., Brady, A. F., Pope, F. M., Vandersteen, A., Wagner, B. E., Ferguson, D. J. P., & van Dijk, F. S. (2019) · British Journal of Dermatology · doi:10.1111/bjd.18165 · Cited by 29 · see citing works
Structure and Function of the Skin
McGrath, J. A., & Uitto, J. (2024) · Wiley eBooks · doi:10.1002/9781119709268.rook002 · Cited by 28 · see citing works
Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility
Green, C. E., Ghali, N., Akilapa, R., Angwin, C., Baker, D., Bartlett, M., Bowen, J. M., Brady, A. F., Brock, J., Chamberlain, E. D., et al. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-0850-1 · Cited by 26 · see citing works
Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome
Delbaere, S., Damme, T. V., Syx, D., Symoens, S., Coucke, P. J., Willaert, A., & Malfait, F. (2019) · Matrix Biology · doi:10.1016/j.matbio.2019.12.002 · Cited by 25 · see citing works
Self-citation
Current management of the vascular subtype of Ehlers–Danlos syndrome
Benrashid, E., & Ohman, J. W. (2020) · Current Opinion in Cardiology · doi:10.1097/hco.0000000000000797 · Cited by 22 · see citing works
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome
Ayoub, S., Ghali, N., Angwin, C., Baker, D., Baffini, S., Brady, A. F., Uzielli, M. L. G., Giunta, C., Johnson, D. S., Kosho, T., et al. (2020) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61523 · Cited by 21 · see citing works
Animal Models of Ehlers–Danlos Syndromes: Phenotype, Pathogenesis, and Translational Potential
Vroman, R., Malfait, A., Miller, R. E., Malfait, F., & Syx, D. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.726474 · Cited by 20 · see citing works
Self-citation
Vascular aneurysms in Ehlers‐Danlos syndrome subtypes: A systematic review
Shabani, M., Abdollahi, A., Brar, B. K., MacCarrick, G. L., Ambale‐Venkatesh, B., Lima, J. A. C., & Bodurtha, J. N. (2022) · Clinical Genetics · doi:10.1111/cge.14245 · Cited by 19 · see citing works
Bioengineered vascular grafts with a pathogenic TGFBR1 variant model aneurysm formation in vivo and reveal underlying collagen defects
Yang, Y., Feng, H., Tang, Y., Wang, Z., Qiu, P., Huang, X., Chang, L., Zhang, J., Chen, Y. E., Mizrak, D., et al. (2024) · Science Translational Medicine · doi:10.1126/scitranslmed.adg6298 · Cited by 19 · see citing works
A collagen Vα1-derived fragment inhibits FGF-2 induced-angiogenesis by modulating endothelial cells plasticity through its heparin-binding site
Jia, T., Vaganay, E., Carpentier, G., Coudert, P., Gonzalez, V. G., Manuel, R., Eymin, B., Coll, J., & Ruggiero, F. (2020) · Matrix Biology · doi:10.1016/j.matbio.2020.07.001 · Cited by 19 · see citing works
Histological mapping of porcine carotid arteries — An animal model for the assessment of artificial conduits suitable for coronary bypass grafting in humans
Tomášek, P., Tonar, Z., Grajciarová, M., Kural, T., Turek, D., Horáková, J., Pálek, R., Eberlová, L., Králíčková, M., & Liška, V. (2019) · Annals of Anatomy - Anatomischer Anzeiger · doi:10.1016/j.aanat.2019.151434 · Cited by 17 · see citing works
A novel mutation in COL3A1 associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement
Ruscitti, F., Trevisan, L., Rosti, G., Gotta, F., Cianflone, A., Geroldi, A., Origone, P., Pichiecchio, A., Viglio, S., Iascone, M. R., et al. (2021) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1753 · Cited by 14 · see citing works
A modified microchip-based flow chamber system for evaluating thrombogenicity in patients with thrombocytopenia
Atari, B., Ito, T., Nagasato, T., Ohnishi, T., Hosokawa, K., Yasuda, T., Maruyama, I., & Kakihana, Y. (2020) · Thrombosis Journal · doi:10.1186/s12959-020-00244-9 · Cited by 15 · see citing works
Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobility Spectrum Disorders
Micale, L., Fusco, C., & Castori, M. (2021) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-80614-9_9 · Cited by 16 · see citing works
Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients
Angwin, C., Brady, A. F., Colombi, M., Ferguson, D. J. P., Pollitt, R. C., Pope, F. M., Ritelli, M., Symoens, S., Ghali, N., & van Dijk, F. S. (2019) · Genes · doi:10.3390/genes10100762 · Cited by 15 · see citing works
Pregnancy and Fetal Outcomes in Patients With Ehlers-Danlos Syndrome: A Nationally Representative Analysis
Alrifai, N., Alhuneafat, L., Jabri, A., Khalid, M. U., Tieliwaerdi, X., Sukhon, F., Hammad, N., Al‐Abdouh, A., Mhanna, M., Siraj, A., et al. (2023) · Current Problems in Cardiology · doi:10.1016/j.cpcardiol.2023.101634 · Cited by 14 · see citing works
TNX deficiency results in bone loss due to an increase in multinucleated osteoclasts
Kajitani, N., Yamada, T., Kawakami, K., & Matsumoto, K. (2019) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2019.03.134 · Cited by 14 · see citing works
Problems in the orofacial region associated with Ehlers-Danlos and Marfan syndromes: a case series
Camp, N. V., Aerden, T., & Politis, C. (2019) · British Journal of Oral and Maxillofacial Surgery · doi:10.1016/j.bjoms.2019.11.018 · Cited by 13 · see citing works
Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review
Doolan, B. J., Lavallee, M. E., Haußer, I., Pope, F. M., Seneviratne, S. L., Winship, I., & Burrows, N. (2023) · Journal of the American Academy of Dermatology · doi:10.1016/j.jaad.2023.01.034 · Cited by 12 · see citing works
Oral characteristics in adult individuals with periodontal Ehlers‐Danlos syndrome
Lepperdinger, U., Angwin, C., Milnes, D., Sobey, G. J., Ghali, N., Johnson, D. S., Brady, A. F., Kammin, T., Bowen, J. M., Gröbner, R., et al. (2022) · Journal Of Clinical Periodontology · doi:10.1111/jcpe.13698 · Cited by 13 · see citing works
Ehlers-Danlos syndromes: importance of defining the type
van Dijk, F. S., Ghali, N., & Chandratheva, A. (2023) · Practical Neurology · doi:10.1136/pn-2023-003703 · Cited by 11 · see citing works
Whole‐exome sequencing facilitates the differential diagnosis of Ehlers–Danlos syndrome ( EDS )
Yang, F. Y., Yang, R., Li, Q., Zhang, J., Meng, Y., Liu, X., & Yao, Y. (2022) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1885 · Cited by 11 · see citing works
Periodontal (formerly type VIII ) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype
Chehadeh, S. E., Legrand, A., Stoetzel, C., Geoffroy, V., Billon, C., Adham, S., Jeunemaı̂tre, X., Jaussaud, R., Muller, J., Schaefer, É., et al. (2021) · Clinical Genetics · doi:10.1111/cge.13972 · Cited by 11 · see citing works
Arterial complications in classical Ehlers-Danlos syndrome: a case series
Angwin, C., Brady, A. F., Pope, F. M., Vandersteen, A., Baker, D., Cheema, H., Sobey, G. J., Johnson, D. S., von Klemperer, K., Kazkaz, H., et al. (2020) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2019-106689 · Cited by 10 · see citing works
A severe case of PLOD1 ‐related kyphoscoliotic Ehlers–Danlos syndrome associated with several arterial and venous complications: A case report
Foy, M., Métay, C., Frank, M., Denarié, N., Adham, S., Billon, C., Legrand, A., Jeunemaı̂tre, X., Gillas, F., Gaudon, K., et al. (2023) · Clinical Case Reports · doi:10.1002/ccr3.6760 · Cited by 8 · see citing works
Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome
Angwin, C., Zschocke, J., Kammin, T., Björck, E., Bowen, J., Brady, A. F., Burns, H., Cummings, C. A., Gardner, R., Ghali, N., et al. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1136339 · Cited by 8 · see citing works
Prevalence of vascular complications in Ehlers-Danlos syndrome: a systematic review and meta-analysis
Awad, A. A., Yappalparvi, A., Khatib, M. N., Roopashree, R., Kaur, M., Srivastava, M., Barwal, A., Prasad, G. V. S., Rajput, P., Syed, R., et al. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03854-6 · Cited by 10 · see citing works
Cardiac manifestations of human ACTA2 variants recapitulated in a zebrafish model
Sebastian, W. A., Inoue, M., Shimizu, N., Sato, R., Oguri, S., Itonaga, T., Kishimoto, S., Shiraishi, H., Hanada, T., & Ihara, K. (2024) · Journal of Human Genetics · doi:10.1038/s10038-024-01221-0 · Cited by 7 · see citing works
Bowel Perforation in Vascular Ehlers–Danlos Syndrome: Case Report and Comprehensive Review
Menni, A.-E., Tzikos, G., Sarafis, A., Ververi, A., Chatziantoniou, G., Rafailidis, V. D., Panidis, S., Goulas, P., Karlafti, E., Apostolidis, S., et al. (2023) · Journal of Personalized Medicine · doi:10.3390/jpm13081247 · Cited by 7 · see citing works
Orthopaedic Conditions Associated with Aneurysms
Marrache, M., Byers, P. H., & Sponseller, P. D. (2020) · JBJS Reviews · doi:10.2106/jbjs.rvw.19.00122 · Cited by 7 · see citing works
The Role of Cutaneous Manifestations in the Diagnosis of the Ehlers-Danlos Syndromes
Stembridge, N. S., Doolan, B. J., Lavallee, M. E., Haußer, I., Pope, F. M., Seneviratne, S. L., Winship, I., & Burrows, N. (2022) · Skin Health and Disease · doi:10.1002/ski2.140 · Cited by 6 · see citing works
The BS variant of C4 protects against age-related loss of white matter microstructural integrity
Traylor, M., Malik, R., Gesierich, B. G., & Dichgans, M. (2021) · Brain · doi:10.1093/brain/awab261 · Cited by 6 · see citing works
Case report: Multiple gastrointestinal perforations in a rare musculocontractural Ehlers–Danlos syndrome with multiple organ dysfunction
Qian, H., Zhou, T., Zheng, N., Lu, Q., & Han, Y. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.846529 · Cited by 6 · see citing works
Disruption of Osteoprotegerin has complex effects on medial destruction and adventitial fibrosis during mouse abdominal aortic aneurysm formation
Batmunkh, B., Otani, M., Karasaki, K., Sakai, C., Ishida, M., Kokubo, H., & Yoshizumi, M. (2020) · PLoS ONE · doi:10.1371/journal.pone.0235553 · Cited by 6 · see citing works
The use of artificial intelligence in the prevention and management of bleeding disorders: a systematic review
Mohamed, F. R. R., Aldabbagh, Z., Kalou, W., Hamsho, K., Aldabagh, A., Kalou, A., & Sajid, M. R. (2025) · Frontiers in Medicine · doi:10.3389/fmed.2025.1606788 · Cited by 5 · see citing works
Identification of two novel COL3A1 variants in patients with vascular Ehlers‐Danlos syndrome
Heo, W. Y., Jang, S. Y., Park, T. K., Ki, C., Kim, J., Kim, D., & Jang, J. (2022) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2240 · Cited by 4 · see citing works
Outcomes of Total Knee Arthroplasty in Patients Who Have Ehlers-Danlos Syndrome: A Matched Cohort Study
Fuqua, A. A., Worden, J. A., Bonsu, J. M., Ross, B. J., & Premkumar, A. (2024) · The Journal of Arthroplasty · doi:10.1016/j.arth.2024.05.069 · Cited by 5 · see citing works
Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures
Sølyst, S., Oksjoki, R. K., Farholt, S., Nielsen, D. G., Christensen, A. H., Fagerberg, C. R., Risom, L., Gregersen, P. A., Christensen, M. B., Rasmussen, T. B., et al. (2022) · Clinical Genetics · doi:10.1111/cge.14176 · Cited by 4 · see citing works
Percutaneous Embolization of an Inferior Mesenteric Artery Aneurysm in a Patient With Type IV Ehlers-Danlos Syndrome
Rahman, Q., Naidu, S., Chong, B. W., & Stone, W. M. (2019) · Vascular and Endovascular Surgery · doi:10.1177/1538574418824185 · Cited by 5 · see citing works
Increased augmentation index in patients with Ehlers-Danlos syndrome
Roeder, M., Thiel, S., Baumann, F., Sievi, N. A., Rohrbach, M., Kohler, M., & Gaisl, T. (2020) · BMC Cardiovascular Disorders · doi:10.1186/s12872-020-01684-x · Cited by 4 · see citing works
Proteomic pipeline to identify age-related compositional and structural changes of the human dentin extracellular matrixPreprint
dos Reis, M. C., Lee, F., Bedran‐Russo, A. K., & Naba, A. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.05.27.116624 · Cited by 5 · see citing works
New genetic mutations in a Chinese child with Ehlers-Danlos syndrome-like spondyloepimetaphyseal dysplasia: A case report
Han, S., Xu, X., Wen, J., Wang, J., Xiao, S., Pan, L., & Wang, J. (2022) · Frontiers in Pediatrics · doi:10.3389/fped.2022.1073748 · Cited by 4 · see citing works
Case report and discussion: Pre-implantation genetic diagnosis with surrogacy in vascular Ehlers–Danlos syndrome
Angwin, C., Ghali, N., & van Dijk, F. S. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1147607 · Cited by 4 · see citing works
The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series
Angwin, C., Byers, P. H., Dulfer, E., Ghali, N., Harris, J. M., Haußer, I., McElroy, A. W., Sobey, G. J., & van Dijk, F. S. (2024) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63957 · Cited by 4 · see citing works
Impact of vascular Ehlers-Danlos Syndrome-associated Gly substitutions on structure, function, and mechanics using bacterial collagen
Gahlawat, S., Siess, J., Losada, N., Timm, J., Nanda, V., & Shreiber, D. I. (2024) · Matrix Biology · doi:10.1016/j.matbio.2024.12.002 · Cited by 4 · see citing works
Absence of lingual frenulum in children with Ehlers-Danlos Syndrome: a retrospective study of forty cases and literature review of a twenty years long debate
Savasta, S., Bassanese, F., Hruby, C., Foiadelli, T., Siri, B., Viviana, G. O. R. I., Votto, M., Tinelli, C., & Marseglia, G. L. (2021) · Minerva Pediatrics · doi:10.23736/s2724-5276.19.05530-0 · Cited by 4 · see citing works
Double trouble: A case report of concurrent superior mesenteric artery syndrome and nutcracker syndrome in a previously healthy young adult
Boroomand-Saboor, M., & Moradi, H. (2025) · International Journal of Surgery Case Reports · doi:10.1016/j.ijscr.2025.110968 · Cited by 3 · see citing works
Acute Respiratory Failure Secondary to Persistent Lobar Atelectasis in Ehlers-Danlos Syndrome Patient and the Role of Connective Tissue Disease in Altering the Mechanical Properties of the Lungs
Sharman, T. (2019) · American Journal of Medical Case Reports · doi:10.12691/ajmcr-7-11-6 · Cited by 3 · see citing works
A rare case report of Horner syndrome revealing an internal carotid artery dissection in a patient with Ehlers-Danlos syndrome
Grosse, J.-P., Mondot, L., Saade, S., Baillif, S., & Martel, A. (2020) · Journal Français d Ophtalmologie · doi:10.1016/j.jfo.2020.01.013 · Cited by 3 · see citing works
Two closely spaced missense COL3A1 variants in cis cause vascular Ehlers‐Danlos syndrome in one large Chinese family
Liang, M., Chen, C., Dai, Y., Chang, Y., & Gao, Y. (2021) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.17063 · Cited by 2 · see citing works
Spontaneous celiac artery aneurysms in 13-year-old and 10-year-old brothers with PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome
Bhandari, A., Siu, V. M., & Duncan, A. A. (2024) · Journal of Vascular Surgery Cases and Innovative Techniques · doi:10.1016/j.jvscit.2024.101465 · Cited by 2 · see citing works
Building evidence for diagnosis of lipedema: using a classification and regression tree (CART) algorithm to differentiate lipedema from lymphedema patients
Forner‐Cordero, I., Muñoz-Langa, J., & Morilla-Bellido, L. (2025) · International Angiology · doi:10.23736/s0392-9590.25.05207-1 · Cited by 2 · see citing works
Vascular Changes and Surgical Risk in Cervical vs. Endometrial Cancer After Radiotherapy: A Retrospective Cohort Study
Marinescu, D., Barbu, L. A., Cojan, T. Ș. Ț., Mărgăritescu, N.-D., Vasile, L., Marinescu, R. A., Râmboiu, D. S., Şurlin, V., & Ciurea, A.-M. (2026) · Life · doi:10.3390/life16010071 · Cited by 2 · see citing works
Hyperdynamic Valve: A Rare Case of Ehlers-Danlos Syndrome
Pires, S. X., Pereira, G. S., Paiva, D., Cordeiro, F., Fernandes, M., & Cotter, J. (2021) · Journal of Medical Cases · doi:10.14740/jmc3692 · Cited by 2 · see citing works
Anesthetic management of Ehlers-Danlos syndrome patient with Takayasu arteritis for capsulorrhaphy of the temporomandibular joint
Singh, S., Gupta, N., Sreenivasulu, P., & Sood, M. (2021) · Journal of Anaesthesiology Clinical Pharmacology · doi:10.4103/joacp.joacp_301_19 · Cited by 2 · see citing works
Leukocytoclastic vasculitis with Koebner phenomenon associated with Ehlers Danlos syndrome
Haddock, E. S., & Marsch, A. F. (2019) · JAAD Case Reports · doi:10.1016/j.jdcr.2019.05.028 · Cited by 2 · see citing works
Bleeding Associated with Connective Tissue Disorders
Kaur, D., & Kerlin, B. A. (2021) · Springer eBooks · doi:10.1007/978-3-030-56338-7_20 · Cited by 2 · see citing works
No prominent role for complement C1-esterase inhibitor in Marfan syndrome mice
Hibender, S., Li, S., Postma, A. V., Hoogeland, M. E., Klaver, D., Pouw, R. B., Niessen, H. W. M., Driessen, A. H. G., Koolbergen, D. R., de Vries, C. J. M., et al. (2022) · Vascular Biology · doi:10.1530/vb-22-0016 · Cited by 2 · see citing works
Diagnosis of vascular Ehlers Danlos syndrome and management of vascular complications: a vascular surgeons perspective
Schönherr, L., Wipper, S. H., & Kodolitsch, Y. V. (2024) · Medizinische Genetik · doi:10.1515/medgen-2024-2053 · Cited by 1 · see citing works
Aortic Tissue Proteome Alterations in Vascular Ehlers–Danlos Syndrome
Miolo, G., Canil, G., Machin, P., Puppa, L. D., & Corona, G. (2025) · Journal of Proteome Research · doi:10.1021/acs.jproteome.5c00628 · Cited by 1 · see citing works
Secretion-based production of prolyl-hydroxylated human type III collagen in scalable Physcomitrella photobioreactors
Bohlender, L. L., Parsons, J., Mitgau, A., Hoernstein, S. N. W., Grigolon, G., Henes, B., Decker, E. L., & Ralf Reski, A. (2026) · Plant Cell Reports · doi:10.1007/s00299-026-03727-7 · Cited by 1 · see citing works
Spontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series
Ghali, N., Angwin, C., Liebert, S., Deaner, A., von Klemperer, K., Wheeldon, N. M., Johnson, D. S., Sobey, G. J., Samani, N. J., Webb, T. R., et al. (2026) · European Journal of Human Genetics · doi:10.1038/s41431-026-02074-1 · Cited by 1 · see citing works
Successful Conservative Management of a Rare Surgical Complication of Vascular Ehlers-Danlos Syndrome: A Case Report
Mangiameli, G., Zreibi, C. A., Ammar, A., Arame, A., & Pimpec‐Barthes, F. L. (2021) · The Permanente Journal · doi:10.7812/tpp/21.021 · Cited by 1 · see citing works
Case report: Complex arterial findings in vascular ehlers-danlos syndrome with a novel COL3A1 variant and death at young age
Taurino, J., Micaglio, E., Raucci, A. R., Zanussi, M., Chessa, M., Udugampolage, N. S., Carrera, P., Pappone, C., & Pini, A. (2023) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2023.1110392 · Cited by 1 · see citing works
Introduction: An overview of the Ehlers-Danlos syndromes and hypermobility spectrum disorders
Francomano, C. A., Hakim, A. J., Henderson, L. G. S., & Henderson, F. C. (2024) · Elsevier eBooks · doi:10.1016/b978-0-323-95082-4.00061-x · Cited by 1 · see citing works
Commentary: Danger of fluoroquinolones in Marfan syndrome
Si, M. (2020) · Journal of Thoracic and Cardiovascular Surgery · doi:10.1016/j.jtcvs.2020.10.057 · Cited by 1 · see citing works
Skin and Lacrimal Drainage System
Yanoff, M., & Sassani, J. W. (2024) · Elsevier eBooks · doi:10.1016/b978-0-323-87822-7.00006-7 · Cited by 1 · see citing works
Spontaneous rupture of a left subclavian artery pseudoaneurysm in a child
Hede, S. V. (2019) · Journal of Pediatrics & Neonatal Care · doi:10.15406/jpnc.2019.09.00379
Generation and characterization of a new conditional mouse model of Hutchinson-Gilford Progeria Syndrome to assess disease progression upon progerin suppression and lamin A restoration
Sánchez‐López, A. (2020) · doi:10.4321/repisalud.9034
Immunohistochemistry and Immunoblotting
(2020) · Elsevier eBooks · doi:10.1016/b978-0-7020-7471-4.00006-9
Two Novel Variants of COL3A1 in Patients with Vascular Ehlers-Danlos Syndrome: Importance of RNA Sequencing and Consideration of Testing StrategyPreprint
Heo, W. Y., Jang, S. Y., Park, T. K., Ki, C., Kim, J., Kim, D., & Jang, J. (2022) · SSRN Electronic Journal · doi:10.2139/ssrn.4149501
Dermatosparaxis type of Ehlers-Danlos syndrome: case report
Balatska, N., Stroi, O. А., Grynevych, I., Husynin, P. V., Medvedieva, O. P., & Kyrylchuk, K. (2023) · PAIN JOINTS SPINE · doi:10.22141/pjs.13.3.2023.385
Severe abdominal pain and a cold leg
Hakim, A. J., & Francomano, C. A. (2024) · Elsevier eBooks · doi:10.1016/b978-0-323-95082-4.00072-4
Ehlers-Danlos syndrome: From bedside to bench
(2024) · Frontiers research topics · doi:10.3389/978-2-8325-4557-7
Collagenopathies – The Ehlers-Danlos syndromes
Malfait, F. (2024) · Elsevier eBooks · doi:10.1016/b978-0-12-822951-4.00011-4
Self-citation
Management of Pelvic Floor Dysfunction in Connective Tissue Disorders Including Ehlers-Danlos Syndrome
Thia, I., & Jeewa, F. (2024) · IntechOpen eBooks · doi:10.5772/intechopen.114013

Authors: Malfait, F.
Affiliations: Ghent University Hospital (BE)
Corresponding author: Malfait, Fransiska
ORCID: Malfait, Fransiska
Venue: Matrix Biology
Publisher: Elsevier BV
Published: 2018-10
Volume: 71-72
Pages: 380-395
ISSN: 0945-053X (ISSN-L)
DOI: 10.1016/j.matbio.2018.04.013
OpenAlex: W2800944293
Cited by: 113
References: 128
Citations by year: 2026: 8 · 2025: 11 · 2024: 15 · 2023: 12 · 2022: 10 · 2021: 14 · 2020: 22 · 2019: 19 · 2018: 2
FWCI: 2.00
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Matrix Biology (publishedVersion)
PubMed (publishedVersion)
Ghent University Academic Bibliography (Ghent University) (submittedVersion)
Funders: Vlaamse regering
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
Health Sciences › Medicine › Neurology › Cerebrovascular and genetic disorders
Keywords: Ehlers-Danlos syndrome, vascular fragility, arterial aneurysm, arterial dissection, arterial rupture, bleeding tendency, easy bruising, type III collagen, type V collagen, connective tissue diseases, glycosaminoglycan synthesis
MeSH terms: Collagen, Ehlers-Danlos Syndrome, Extracellular Matrix, Humans, Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase, Mutation, Vascular Diseases, Genetic Predisposition to Disease, Tacrolimus Binding Proteins

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Vascular aspects of the Ehlers-Danlos Syndromes

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