Bi-allelic alterations in AEBP1 lead to defective collagen assembly and connective tissue structure resulting in a variant of Ehlers-Danlos syndrome

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587 · see citing works

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 · cited 1× · see citing works

Extracellular Matrix Assembly: A Multiscale Deconstruction

Mouw, J. K., Ou, G., & Weaver, V. M. (2014) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3902 · Cited by 1,534 · see citing works

Overview of the Matrisome--An Inventory of Extracellular Matrix Constituents and Functions

Hynes, R. O., & Naba, A. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a004903 · Cited by 1,349 · see citing works

Altered regulation of IL-6 production with normal aging. Possible linkage to the age-associated decline in dehydroepiandrosterone and its sulfated derivative

Daynes, R. A., Araneo, B. A., Ershler, W. B., Maloney, C., Li, G. Z., & Ryu, S. Y. (1993) · The Journal of Immunology · doi:10.4049/jimmunol.150.12.5219 · Cited by 1,264 · 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

Extracellular Matrix Composition and Remodeling in Human Abdominal Aortic Aneurysms: A Proteomics Approach

Didangelos, A., Yin, X., Mandal, K., Saje, A., Smith, A., Xu, Q., Jahangiri, M., & Mayr, M. (2011) · Molecular & Cellular Proteomics · doi:10.1074/mcp.m111.008128 · Cited by 285 · see citing works

Discoidin Domain Receptors: Unique Receptor Tyrosine Kinases in Collagen-mediated Signaling

Fu, H.-L., Valiathan, R. R., Arkwright, R. T., Sohail, A., Mihai, C., Kumarasiri, M., Mahasenan, K. V., Mobashery, S., Huang, P. H., Agarwal, G., et al. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.r112.444158 · Cited by 248 · see citing works

Functional Implications of the Spectrum of Mutations Found in 234 Cases With X-linked Juvenile Retinoschisis (XLRS)

Dunnen, J. T. D., Kraayenbrink, T., van Schooneveld, M. J., Vosse, E. V. D., de Jong, P. T. V. M., ten Brink, J. B., Schuurman, E., Tijmes, N., Ommen, G. J. B. V., Bergen, A. A. B., et al. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.7.1185 · Cited by 224 · see citing works

Molecular Analysis of Collagen Binding by the Human Discoidin Domain Receptors, DDR1 and DDR2

Leitinger, B. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m301370200 · Cited by 219 · see citing works

Collagen binding specificity of the discoidin domain receptors: Binding sites on collagens II and III and molecular determinants for collagen IV recognition by DDR1

Xu, H., Raynal, N., Stathopoulos, S., Myllyharju, J., Farndale, R. W., & Leitinger, B. (2010) · Matrix Biology · doi:10.1016/j.matbio.2010.10.004 · Cited by 203 · see citing works

Carboxypeptidases from A to Z: implications in embryonic development and Wnt binding

Reznik, S. E., & Fricker, L. D. (2001) · Cellular and Molecular Life Sciences · doi:10.1007/pl00000819 · Cited by 167 · see citing works

Crystallographic Insight into Collagen Recognition by Discoidin Domain Receptor 2

Carafoli, F., Bihan, D. G., Stathopoulos, S., Konitsiotis, A. D., Kvansakul, M., Farndale, R. W., Leitinger, B., & Hohenester, E. (2009) · Structure · doi:10.1016/j.str.2009.10.012 · Cited by 144 · see citing works

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

Alazami, A. M., Al-Qattan, S. M., Faqeih, E., Alhashem, A., Alshammari, M., Alzahrani, F., Al-Dosari, M. S., Patel, N., Alsagheir, A., Binabbas, B., et al. (2016) · Human Genetics · doi:10.1007/s00439-016-1660-z · Cited by 110 · see citing works

Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications

Bargal, R., Cormier‐Daire, V., Ben‐Neriah, Z., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.12.004 · Cited by 110 · see citing works

Impaired Abdominal Wall Development and Deficient Wound Healing in Mice Lacking Aortic Carboxypeptidase-Like Protein

Layne, M. D., Yet, S., Maemura, K., et al. (2001) · Molecular and Cellular Biology · doi:10.1128/mcb.21.15.5256-5261.2001 · Cited by 107 · see citing works

Structure of the Discoidin Domain Receptor 1 Extracellular Region Bound to an Inhibitory Fab Fragment Reveals Features Important for Signaling

Carafoli, F., Mayer, M. C., Shiraishi, K., Pecheva, M. A., Chan, L. Y., Nan, R., Leitinger, B., & Hohenester, E. (2012) · Structure · doi:10.1016/j.str.2012.02.011 · Cited by 105 · see citing works

Kinetic Analysis of Collagen Fibrillogenesis: I. Use of Turbidity-Time Data

Silver, F. H., & Birk, D. E. (1983) · Collagen and Related Research · doi:10.1016/s0174-173x(83)80020-x · Cited by 99 · see citing works

Structural similarities and functional diversity of eukaryotic discoidin-like domains

Kiedzierska, A., Śmietana, K., Czepczynska, H., & Otlewski, J. (2007) · Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics · doi:10.1016/j.bbapap.2007.07.007 · Cited by 95 · see citing works

Aortic Carboxypeptidase-like Protein, a Novel Protein with Discoidin and Carboxypeptidase-like Domains, Is Up-regulated during Vascular Smooth Muscle Cell Differentiation

Layne, M. D., Endege, W. O., Jain, M. K., Yet, S., Hsieh, C.-M., Chin, M. T., Perrella, M. A., Blanar, M. A., Haber, E., & Lee, M.-E. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.25.15654 · Cited by 93 · see citing works

Mapping of Epitopes in Discoidin Domain Receptor 1 Critical for Collagen Binding

Curat, C. A., Eck, M., Dervillez, X., & Vogel, W. F. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m104360200 · Cited by 90 · see citing works

Exploring the Collagen-binding Site of the DDR1 Tyrosine Kinase Receptor

Abdulhussein, R., McFadden, C. D., Fuentes‐Prior, P., & Vogel, W. F. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m400651200 · Cited by 78 · see citing works

Hereditary disorders of connective tissue: A guide to the emerging differential diagnosis

Murphy‐Ryan, M., Psychogios, A., & Lindor, N. M. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181e074f0 · Cited by 76 · see citing works

Characterization of the Mouse Aortic Carboxypeptidase-Like Protein Promoter Reveals Activity in Differentiated and Dedifferentiated Vascular Smooth Muscle Cells

Layne, M. D., Yet, S., Maemura, K., et al. (2002) · Circulation Research · doi:10.1161/01.res.0000013289.97650.c8 · Cited by 71 · see citing works

Aortic Carboxypeptidase-like Protein (ACLP) Enhances Lung Myofibroblast Differentiation through Transforming Growth Factor β Receptor-dependent and -independent Pathways

Tumelty, K. E., Smith, B. D., Nugent, M. A., & Layne, M. D. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.m113.502617 · Cited by 69 · see citing works

The Genetics of Soft Connective Tissue Disorders

Vanakker, O. M., Callewaert, B. L., Malfait, F., & Coucke, P. J. (2015) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090314-050039 · Cited by 66 · see citing works

P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye

Zou, Y., Donkervoort, S. C., Salo, A. M., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx110 · Cited by 60 · see citing works

Heritable Collagen Disorders: The Paradigm of the Ehlers—Danlos Syndrome

Byers, P. H., & Murray, M. L. (2012) · Journal of Investigative Dermatology · doi:10.1038/skinbio.2012.3 · Cited by 57 · see citing works

Aortic Carboxypeptidase-Like Protein Is Expressed in Fibrotic Human Lung and its Absence Protects against Bleomycin-Induced Lung Fibrosis

Schissel, S. L., Dunsmore, S. E., Liu, X., Shine, R. W., Perrella, M. A., & Layne, M. D. (2009) · American Journal Of Pathology · doi:10.2353/ajpath.2009.080856 · Cited by 52 · see citing works

Aortic carboxypeptidase-like protein is expressed in collagen-rich tissues during mouse embryonic development

Ith, B., Wei, J., Yet, S., Perrella, M. A., & Layne, M. D. (2004) · Gene Expression Patterns · doi:10.1016/j.modgep.2004.11.002 · Cited by 39 · see citing works

A cDNA Cloning of Human AEBP1 from Primary Cultured Osteoblasts and Its Expression in a Differentiating Osteoblastic Cell Line

Ohno, I., Hashimoto, J., Shimizu, K., et al. (1996) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1996.1675 · Cited by 34 · see citing works

Collagen Extracts Derived From Young and Aged Mice Demonstrate Different Structural Properties and Cellular Effects in Three-Dimensional Gels

Damodarasamy, M., Vernon, R. B., Karres, N., Chang, C. H., Bianchi-Frias, D., Nelson, P. S., & Reed, M. J. (2010) · The Journals of Gerontology Series A · doi:10.1093/gerona/glp202 · Cited by 28 · see citing works

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

The Ehlers–Danlos syndromes

Malfait, F., Castori, M., Francomano, C. A., Giunta, C., Kosho, T., & Byers, P. H. (2020) · Nature Reviews Disease Primers · doi:10.1038/s41572-020-0194-9 · Cited by 328 · see citing works

Resolving the intertwining of inflammation and fibrosis in human heart failure at single-cell level

Rao, M., Wang, X., Guo, G., Wang, L., Chen, S., Yin, P., Chen, K., Chen, L., Zhang, Z., Chen, X., et al. (2021) · Basic Research in Cardiology · doi:10.1007/s00395-021-00897-1 · Cited by 214 · see citing works

Hypermobile Ehlers‐Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes

Gensemer, C., Burks, R., Kautz, S. A., Judge, D. P., Lavallee, M. E., & Norris, R. A. (2020) · Developmental Dynamics · doi:10.1002/dvdy.220 · Cited by 151 · see citing works

AEBP1 expression increases with severity of fibrosis in NASH and is regulated by glucose, palmitate, and miR-372-3p

Gerhard, G. S., Hanson, A., Wilhelmsen, D., Piras, I. S., Still, C. D., Chu, X., Petrick, A. T., & DiStefano, J. K. (2019) · PLoS ONE · doi:10.1371/journal.pone.0219764 · Cited by 68 · 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

Impact of integrated translational research on clinical exome sequencing

Klee, E. W., Cousin, M. A., Vairo, F. P. E., Morales‐Rosado, J. A., Macke, E. L., Jenkinson, W. G., Ferrer, A., Schultz‐Rogers, L. E., Olson, R. J., Oliver, G. R., et al. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-01005-9 · Cited by 57 · see citing works

Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders

Ritelli, M., & Colombi, M. (2020) · Genes · doi:10.3390/genes11050547 · Cited by 70 · see citing works

Premature aging disorders: A clinical and genetic compendium

Schnabel, F., Kornak, U., & Wollnik, B. (2020) · Clinical Genetics · doi:10.1111/cge.13837 · Cited by 57 · see citing works

COL1 ‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap

Morlino, S., Micale, L., Ritelli, M., Rohrbach, M., Zoppi, N., Vandersteen, A., MacKay, S. B., Agolini, E., Cocciadiferro, D., Sasaki, E., et al. (2019) · Clinical Genetics · doi:10.1111/cge.13683 · Cited by 55 · see citing works

Severity classes in adults with hypermobile Ehlers–Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients

Copetti, M., Morlino, S., Colombi, M., Grammatico, P., Fontana, A., & Castori, M. (2019) · Rheumatology · doi:10.1093/rheumatology/kez029 · Cited by 55 · 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

Bi-allelic AEBP1 mutations in two patients with Ehlers–Danlos syndrome

Syx, D., De Wandele, I., Symoens, S., De Rycke, R., Hougrand, O., Voermans, N., De Paepe, A., & Malfait, F. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz024 · Cited by 51 · see citing works

Urogenital and pelvic complications in the Ehlers‐Danlos syndromes and associated hypermobility spectrum disorders: A scoping review

Gilliam, E. A., Hoffman, J. D., & Yeh, G. Y. (2019) · Clinical Genetics · doi:10.1111/cge.13624 · Cited by 53 · see citing works

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

Li, J., Ritelli, M., Ma, C. S., Rao, G., Habib, T., Corvilain, E., Bougarn, S., Cypowyj, S., Grodecká, L., Lévy, R., et al. (2019) · Science Immunology · doi:10.1126/sciimmunol.aax7965 · Cited by 52 · see citing works

A single cell transcriptional atlas of early synovial joint development

Bian, Q., Cheng, Y., Wilson, J. P., Su, E. Y., Kim, D. W., Wang, H., Yoo, S., Blackshaw, S., & Cahan, P. (2020) · Development · doi:10.1242/dev.185777 · Cited by 46 · 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

Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes

Ritelli, M., Cinquina, V., Giacopuzzi, E., Venturini, M., Chiarelli, N., & Colombi, M. (2019) · Genes · doi:10.3390/genes10090631 · Cited by 42 · see citing works

Single-nuclear transcriptome profiling identifies persistent fibroblast activation in hypertrophic and failing human hearts of patients with longstanding disease

Kattih, B., Boeckling, F., Shumliakivska, M., Tombor, L. S., Rasper, T., Schmitz, K., Hoffmann, J., Nicin, L., Abplanalp, W. T., Carstens, D. C., et al. (2023) · Cardiovascular Research · doi:10.1093/cvr/cvad140 · Cited by 40 · see citing works

High overlap in patients diagnosed with hypermobile Ehlers-Danlos syndrome or hypermobile spectrum disorders with fibromyalgia and 40 self-reported symptoms and comorbidities

Fairweather, D., Bruno, K. A., Darakjian, A. A., Bruce, B. K., Gehin, J. M., Kotha, A., Jain, A., Peng, Z., Hodge, D. O., Rozen, T. D., et al. (2023) · Frontiers in Medicine · doi:10.3389/fmed.2023.1096180 · Cited by 37 · see citing works

Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome

Ritelli, M., Cinquina, V., Venturini, M., Pezzaioli, L., Formenti, A. M., Chiarelli, N., & Colombi, M. (2019) · Genes · doi:10.3390/genes10020135 · Cited by 33 · 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

Cardiac valvular Ehlers‐Danlos syndrome is a well‐defined condition due to recessive null variants in COL1A2

Guarnieri, V., Morlino, S., Stolfo, G. D., et al. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61100 · Cited by 31 · see citing works

The Many Facets of Hypermobile Ehlers-Danlos Syndrome

Riley, B. A. (2020) · Journal of Osteopathic Medicine · doi:10.7556/jaoa.2020.012 · Cited by 32 · see citing works

Single-cell and bulk RNA sequencing reveal cancer-associated fibroblast heterogeneity and a prognostic signature in prostate cancer

Liu, W., Wang, M., Wang, M., & Liu, M. B. (2023) · Medicine · doi:10.1097/md.0000000000034611 · Cited by 33 · see citing works

Extracutaneous features and complications of the Ehlers-Danlos syndromes: A systematic review

Doolan, B. J., Lavallee, M. E., Haußer, I., Schubart, J. R., Pope, F. M., Seneviratne, S. L., Winship, I., & Burrows, N. (2023) · Frontiers in Medicine · doi:10.3389/fmed.2023.1053466 · Cited by 32 · see citing works

Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization

Bascom, R., Schubart, J. R., Mills, S. E., Smith, T., Zukley, L. M., Francomano, C. A., & McDonnell, N. B. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61054 · Cited by 29 · see citing works

Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome

Colman, M., Syx, D., Wandele, I. D., Dhooge, T., Symoens, S., & Malfait, F. (2021) · Human Mutation · doi:10.1002/humu.24258 · Cited by 28 · 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

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

Mechanisms of aortic carboxypeptidase-like protein secretion and identification of an intracellularly retained variant associated with Ehlers–Danlos syndrome

Vishwanath, N., Monis, W. J., Hoffmann, G. A., Ramachandran, B., DiGiacomo, V., Wong, J. Y., Smith, M. L., & Layne, M. D. (2020) · Journal of Biological Chemistry · doi:10.1074/jbc.ra120.013902 · Cited by 24 · see citing works

The Ehlers-Danlos Syndromes

Colman, M., Paepe, A. D., & Malfait, F. (2023) · Springer eBooks · doi:10.1007/978-3-031-23488-0_47 · Cited by 24 · see citing works

Establishing an Ehlers-Danlos Syndrome Clinic: Lessons Learned

Knight, D. R. T., Confiado, S. M., Bruno, K. A., Fairweather, D., Seymour-Sonnier, A. M., Jain, A., Gehin, J. M., Whelan, E. R., Culberson, J., Munipalli, B., et al. (2022) · SN Comprehensive Clinical Medicine · doi:10.1007/s42399-022-01218-w · Cited by 21 · 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

Phenotypic Clusters and Multimorbidity in Hypermobile Ehlers-Danlos Syndrome

Petrucci, T., Barclay, S. J., Gensemer, C., Morningstar, J. E., Daylor, V., Byerly, K., Bistran, E., Griggs, M., Elliott, J. M., Kelechi, T. J., et al. (2024) · Mayo Clinic Proceedings Innovations Quality & Outcomes · doi:10.1016/j.mayocpiqo.2024.04.001 · Cited by 23 · see citing works

ACLP Activates Cancer-Associated Fibroblasts and Inhibits CD8+ T-Cell Infiltration in Oral Squamous Cell Carcinoma

Sekiguchi, S., Yorozu, A., Okazaki, F., Niinuma, T., Takasawa, A., Yamamoto, E., Kitajima, H., Kubo, T., Hatanaka, Y., Nishiyama, K., et al. (2023) · Cancers · doi:10.3390/cancers15174303 · Cited by 22 · 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

AEBP1 Contributes to Breast Cancer Progression by Facilitating Cell Proliferation, Migration, Invasion, and Blocking Apoptosis

Li, J., Ruan, Y., Zheng, C., et al. (2023) · Discovery Medicine · doi:10.24976/discov.med.202335174.6 · Cited by 21 · see citing works

Defining the Chronic Complexities of hEDS and HSD: A Global Survey of Diagnostic Challenges, Life-Long Comorbidities, and Unmet Needs

Daylor, V., Griggs, M., Weintraub, A., Byrd, R. L., Petrucci, T., Huff, M. L., Byerly, K., Fenner, R., Severance, S., Griggs, C., et al. (2025) · Journal of Clinical Medicine · doi:10.3390/jcm14165636 · Cited by 29 · see citing works

On Force and Form: Mechano-Biochemical Regulation of Extracellular Matrix

Hoffmann, G. A., Wong, J. Y., & Smith, M. L. (2019) · Biochemistry · doi:10.1021/acs.biochem.9b00219 · Cited by 19 · see citing works

Mass Spectrometry-Based Redox and Protein Profiling of Failing Human Hearts

Tomin, T., Schittmayer, M., Sedej, S., Bugger, H., Gollmer, J., Honeder, S. E., Darnhofer, B., Liesinger, L., Zuckermann, A. O., Rainer, P. P., et al. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22041787 · Cited by 18 · see citing works

The Role of Cell Adhesion and Cytoskeleton Dynamics in the Pathogenesis of the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders

Malek, S., & Köster, D. V. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.649082 · Cited by 19 · see citing works

Mechanobiology in the Comorbidities of Ehlers Danlos Syndrome

Royer, S. P., & Han, S. J. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.874840 · Cited by 18 · see citing works

A biallelic truncating <i>AEBP1</i> variant causes connective tissue disorder in two siblings

Hebebrand, M., Vasileiou, G., Krumbiegel, M., Kraus, C., Uebe, S., Ekici, A. B., Thiel, C. T., Reis, A., & Popp, B. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.60679 · Cited by 18 · see citing works

The infantile neuroaxonal dystrophy rating scale (INAD-RS)

Atwal, P. S., Midei, M. G., Adams, D. J., et al. (2020) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-020-01479-5 · Cited by 17 · see citing works

Mutant Presenilin 1 Dysregulates Exosomal Proteome Cargo Produced by Human-Induced Pluripotent Stem Cell Neurons

Podvin, S., Jones, A. C., Liu, Q., Aulston, B. D., Mosier, C., Ames, J., Winston, C. N., Lietz, C. B., Jiang, Z., O’Donoghue, A. J., et al. (2021) · ACS Omega · doi:10.1021/acsomega.1c00660 · Cited by 16 · see citing works

Actuating Extracellular Matrices Decouple the Mechanical and Biochemical Effects of Muscle Contraction on Motor Neurons

Bu, A., Afghah, F., Castro, N., Bawa, M., Kohli, S., Shah, K., Rios, B., Butty, V. L., & Raman, R. (2024) · Advanced Healthcare Materials · doi:10.1002/adhm.202403712 · Cited by 17 · see citing works

Heterozygous THBS2 pathogenic variant causes Ehlers–Danlos syndrome with prominent vascular features in humans and mice

Hadar, N., Porgador, O., Cohen, I., Levi, H., Dolgin, V., Yogev, Y., Sued-Hendrickson, S., Shelef, I., Didkovsky, E., Eskin‐Schwartz, M., et al. (2024) · European Journal of Human Genetics · doi:10.1038/s41431-024-01559-1 · Cited by 18 · see citing works

Aortic carboxypeptidase-like protein regulates vascular adventitial progenitor and fibroblast differentiation through myocardin related transcription factor A

Wang, D., Rabhi, N., Yet, S., Farmer, S. R., & Layne, M. D. (2021) · Scientific Reports · doi:10.1038/s41598-021-82941-7 · Cited by 16 · see citing works

A Cellular Atlas of the Developing Meninges Reveals Meningeal Fibroblast Diversity and FunctionPreprint

DeSisto, J. A., O’Rourke, R., Bonney, S. K., Jones, H. E., Guimiot, F., Jones, K. L., & Siegenthaler, J. A. (2019) · SSRN Electronic Journal · doi:10.1101/648642 · Cited by 14 · see citing works

Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients

Dehnavi, A. Z., Bemanalizadeh, M., Kahani, S. M., et al. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02780-9 · Cited by 15 · see citing works

Childbearing with Hypermobile Ehlers–Danlos Syndrome and Hypermobility Spectrum Disorders: A Large International Survey of Outcomes and Complications

Pearce, G., Bell, L., Pezaro, S., & Reinhold, E. J. (2023) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph20206957 · Cited by 17 · see citing works

Pathogenic mechanisms in genetically defined Ehlers–Danlos syndromes

Syx, D., & Malfait, F. (2024) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2024.06.001 · Cited by 14 · see citing works

Fibroblast‐specific adipocyte enhancer binding protein 1 is a potential pathological trigger and prognostic marker for liver fibrosis independent of etiology

Zhang, W., Li, Y. J., Zhang, N., Chen, S. Y., Tong, X. F., Wang, B. Q., Huang, T., You, H., & Chen, W. (2023) · Journal of Digestive Diseases · doi:10.1111/1751-2980.13230 · Cited by 12 · see citing works

Silencing of adipocyte enhancer-binding protein 1 (AEBP1) alleviates renal fibrosis in vivo and in vitro via inhibition of the β-catenin signaling pathway

Liu, N., Liu, D., Cao, S., & Lei, J. (2023) · Human Cell · doi:10.1007/s13577-023-00859-w · Cited by 16 · 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

Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants

Angwin, C., Ghali, N., & van Dijk, F. S. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1148224 · Cited by 12 · see citing works

Case report: further delineation of AEBP1-related Ehlers–Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature

Yamaguchi, T., Hayashi, S., Nagai, S., et al. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1102101 · Cited by 12 · see citing works

The Ehlers–Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism

Damme, T. V., Colman, M., Syx, D., & Malfait, F. (2022) · Genes · doi:10.3390/genes13020265 · Cited by 13 · see citing works

Management of childbearing with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: A scoping review and expert co-creation of evidence-based clinical guidelines

Pezaro, S., Brock, I., Buckley, M., Callaway, S., Demirdas, S., Hakim, A. J., Harris, C. L., Gross, C. H., Karanfil, M., Ray, I. L., et al. (2024) · PLoS ONE · doi:10.1371/journal.pone.0302401 · Cited by 12 · 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

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

Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome

Stock, F., Hanisch, M. R., Lechner, S., Biskup, S., Bohring, A., Zschocke, J., & Kapferer‐Seebacher, I. (2021) · Biomolecules · doi:10.3390/biom11020149 · Cited by 11 · see citing works

Barriers to the Diagnosis, Care, and Management of Pediatric Patients With Ehlers-Danlos Syndrome in the United States: A Qualitative Analysis

Black, W. R., Black, L. L., & Jones, J. T. (2023) · Global Pediatric Health · doi:10.1177/2333794x231212081 · Cited by 10 · 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

Joint hypermobility in children: a neglected sign needing more attention

Castori, M. (2020) · Minerva Pediatrics · doi:10.23736/s0026-4946.20.05766-7 · Cited by 10 · see citing works

Cardiovascular Symptoms, Dysautonomia, and Quality of Life in Adult and Pediatric Patients with Hypermobile Ehlers-Danlos Syndrome: A Brief Review

Hertel, A., Black, W. R., Malloy-Walton, L. E., Martin, J. R., & Jones, J. T. (2024) · Current Cardiology Reviews · doi:10.2174/011573403x271096231203164216 · Cited by 11 · see citing works

Independent COL5A1 Variants in Cats with Ehlers-Danlos Syndrome

Kiener, S., Apostolopoulos, N., Schissler, J. R., et al. (2022) · Genes · doi:10.3390/genes13050797 · Cited by 10 · see citing works

Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers–Danlos Syndrome Classical-like Type 2?

Giosaffatte, N. D., Ferraris, A., Gaudioso, F., Lodato, V., Savino, E., Celletti, C., Camerota, F., Bargiacchi, S., Laino, L., Majore, S., et al. (2022) · Genes · doi:10.3390/genes13122358 · Cited by 9 · see citing works

TWIST1 drives endothelial-to-mesenchymal-transition to stabilize atherosclerotic plaques

Ayllón, B. T., Diagbouga, M. R., Das, A., Tian, S., Edsfeldt, A., Kalucka, J. M., Serbanovic‐Canic, J., Chambers, E. V., Sun, J., Gialeli, C., et al. (2026) · Nature Communications · doi:10.1038/s41467-026-69808-z · Cited by 10 · see citing works

Autism in the context of joint hypermobility, hypermobility spectrum disorders, and Ehlers–Danlos syndromes: A systematic review and prevalence meta-analyses

Baeza-Velasco, C., Vergne, J., Poli, M., Kalisch, L., & Calati, R. (2025) · Autism · doi:10.1177/13623613251328059 · Cited by 10 · see citing works

Longitudinal analysis of symptoms in the Ehlers‐Danlos syndromes

Schubart, J. R., Mills, S. E., Schaefer, É., Bascom, R., & Francomano, C. A. (2022) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62640 · Cited by 9 · see citing works

Circadian rhythms and the light‐dark cycle interact to regulate amyloid‐beta plaque accumulation and tau phosphorylation in 5xFAD mice

King, M. W., Jacob, S. M., Sharma, A., Lawrence, J. H., & Musiek, E. S. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70885 · Cited by 13 · see citing works

AEBP1 or ACLP, which is the key factor in inflammation and fibrosis?

Runtian, Z., Wenqiang, H., Zimeng, S., Tianyu, W., & Jingquan, Z. (2025) · International Journal of Biological Macromolecules · doi:10.1016/j.ijbiomac.2025.143554 · Cited by 9 · see citing works

Proteomic profiling of human plasma and intervertebral disc tissue reveals matrisomal, but not plasma, biomarkers of disc degeneration

Dube, C. T., Gilbert, H. T. J., Rabbitte, N., et al. (2025) · Arthritis Research & Therapy · doi:10.1186/s13075-025-03489-9 · Cited by 9 · see citing works

Fetal akinesia: The application of clinical exome sequencing in cases with decreased fetal movement

Cao, Q., Yang, Y., Pan, M., et al. (2021) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2021.03.019 · Cited by 9 · see citing works

Spontaneous uterine rupture revealing vascular Ehlers-Danlos syndrome

Slaoui, A., Mahtate, M., Lazhar, H., Lakhdar, A., Baydada, A., & Kharbach, A. (2022) · International Journal of Surgery Case Reports · doi:10.1016/j.ijscr.2022.106840 · Cited by 8 · see citing works

Community-based network analyses reveal emerging connectivity patterns of protein-protein interactions in murine melanoma secretome

Francisquini, R., Berton, R., Soares, S. G., Gonçalves, D. S. P. O., Camacho, M. F., Andrade-Silva, D., Barcick, U., Serrano, S. M. T., Chammas, R. J., Nascimento, M. C. V., et al. (2020) · Journal of Proteomics · doi:10.1016/j.jprot.2020.104063 · Cited by 8 · see citing works

Adipocyte enhancer binding protein 1 knockdown alleviates osteoarthritis through inhibiting NF‐κB signaling pathway‐mediated inflammation and extracellular matrix degradation

Cao, L., Gao, W., Yang, H., Zeng, R., & Yin, Z. (2024) · Journal of Cell Communication and Signaling · doi:10.1002/ccs3.12022 · Cited by 8 · see citing works

A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder

Foy, M., de Mazancourt, P., Métay, C., Carlier, R., Allamand, V., Gartioux, C., Gillas, F., Miri, N., Jobic, V., Mekki, A., et al. (2021) · Clinical Case Reports · doi:10.1002/ccr3.4128 · Cited by 8 · see citing works

AEBP1 is a negative regulator of skeletal muscle cell differentiation in oral squamous cell carcinoma

Okazaki, F., Yorozu, A., Sekiguchi, S., et al. (2024) · Scientific Reports · doi:10.1038/s41598-024-79061-3 · Cited by 7 · see citing works

Identification of disease-related genes and construction of a gene co-expression database in non-alcoholic fatty liver disease

Ye, H., Sun, M., Su, M., Chen, D., Liu, H., Ma, Y., Luo, W., Li, H., & Xu, F. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1070605 · Cited by 8 · see citing works

Growth failure in aggrecan deficiency is due to decreased extracellular matrix and impaired growth plate chondrocyte hypertrophy

Bendre, A., Ottosson, L., Baroncelli, M., et al. (2025) · Bone · doi:10.1016/j.bone.2025.117594 · Cited by 7 · see citing works

Gastrointestinal medication burden among persons with the Ehlers‐Danlos syndromes

Dhingra, R., Bascom, R., Thompson, E., Francomano, C. A., & Schubart, J. R. (2021) · Neurogastroenterology &amp; Motility · doi:10.1111/nmo.14077 · Cited by 7 · see citing works

Clinical and Molecular Characterization of a Novel Homozygous Frameshift Variant in AEBP1-Related Classical-like Ehlers Danlos Syndrome Type 2 with Comparison to Previously Reported Rare Cases

Ha, Z. Y., Chijiwa, C., & Lewis, M. E. S. (2024) · Genes · doi:10.3390/genes15040461 · Cited by 6 · see citing works

Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome

Micale, L., Foiadelli, T., Russo, F., Cinque, L., Bassanese, F., Granatiero, M., Fusco, C., Savasta, S., & Castori, M. (2021) · Genes · doi:10.3390/genes12121928 · Cited by 6 · see citing works

Aortic carboxypeptidase‐like protein, a putative myokine, stimulates the differentiation and survival of bone‐forming osteoblasts

Kim, H., Kim, M. J., Moon, S. A., Cho, H. J., Lee, Y., Park, S. J., Kim, Y., Baek, I., Kim, B., Lee, S. H., et al. (2023) · The FASEB Journal · doi:10.1096/fj.202300140r · Cited by 6 · see citing works

Ventral body wall closure: Mechanistic insights from mouse models and translation to human pathology

Formstone, C. J., Aldeiri, B., Davenport, M., & Francis‐West, P. H. (2024) · Developmental Dynamics · doi:10.1002/dvdy.735 · Cited by 7 · see citing works

The detailed obstetric course of the first Japanese patient with AEBP1 ‐related Ehlers–Danlos syndrome (classical‐like EDS , type 2)

Sanai, H., Nakamura, Y., Koike, Y., et al. (2023) · Journal of obstetrics and gynaecology research · doi:10.1111/jog.15541 · Cited by 6 · see citing works

Unraveling the matrisome signatures of quiescent and activated muscle stem cells

Guillon, E., Bacar, H., Gilquin, L., Sasaki, T., Mourikis, P., & Ruggiero, F. (2025) · Stem Cell Reports · doi:10.1016/j.stemcr.2025.102635 · Cited by 6 · see citing works

Features of heritable disorders of connective tissue in children with acute rheumatic fever and rheumatic heart disease

Boyarchuk, O. R. (2020) · Reumatologia/Rheumatology · doi:10.5114/reum.2020.93509 · Cited by 5 · see citing works

Cux1+ proliferative basal cells promote epidermal hyperplasia in chronic dry skin disease identified by single-cell RNA transcriptomics

Huang, M., Hua, N., Zhuang, S., Fang, Q., Shang, J., Wang, Z., Tao, X., Niu, J., Li, X., Yu, P., et al. (2023) · Journal of Pharmaceutical Analysis · doi:10.1016/j.jpha.2023.04.004 · Cited by 5 · see citing works

More Genes for Thoracic Aortic Aneurysms and Dissections

Caspar, S. M., Dubacher, N., & Mátyás, G. (2019) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2018.09.094 · Cited by 5 · see citing works

ECM-Focused Proteomic Analysis of Ear Punch Regeneration in Acomys CahirinusPreprint

McCabe, M. C., Okamura, D. M., Erickson, C. B., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.10.11.561940 · Cited by 5 · see citing works

A single cell transcriptional atlas of early synovial joint developmentPreprint

Bian, Q., Cheng, Y., Wilson, J. P., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2019.12.23.887208 · Cited by 5 · see citing works

Haploinsufficiency of Col5a1 causes intrinsic lung and respiratory changes in a mouse model of classical Ehlers‐Danlos syndrome

Fett, J., Dimori, M., Carroll, J. L., & Morello, R. (2022) · Physiological Reports · doi:10.14814/phy2.15275 · Cited by 5 · see citing works

A clinical update on hypermobile Ehlers-Danlos syndrome during pregnancy, birth and beyond

Pezaro, S., Pearce, G., & Reinhold, E. J. (2021) · British Journal of Midwifery · doi:10.12968/bjom.2021.29.9.492 · Cited by 5 · see citing works

Ocular manifestations in Ehlers-Danlos syndrome

Kim, S., Shaia, J. K., Kaelber, D. C., Singh, R. P., & Talcott, K. E. (2025) · Eye · doi:10.1038/s41433-025-03787-1 · Cited by 6 · see citing works

Left ventricular myocardial molecular profile of human diabetic ischaemic cardiomyopathy

Hunter, B., Zhang, Y., Harney, D., McEwen, H. P., Koay, Y. C., Pan, M., Malecki, C., Khor, J. X. Y., Hume, R. D., Guglielmi, G., et al. (2025) · EMBO Molecular Medicine · doi:10.1038/s44321-025-00281-9 · Cited by 5 · see citing works

Inactive metallopeptidase homologs: the secret lives of pseudopeptidases

Lyons, P. J. (2024) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2024.1436917 · Cited by 5 · 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

Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history

Tinkle, B., Castori, M., Berglund, B., Cohen, H., Grahame, R., Kazkaz, H., & Levy, H. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31538 · Cited by 499 · see citing works

The Wrinkly Skin Syndrome: A new heritable disorder of connective tissue

Gazit, E., Goodman, R. M., Bat‐Miriam, M., Katznelson, & Rotem, Y. (1973) · Clinical Genetics · doi:10.1111/j.1399-0004.1973.tb01141.x · Cited by 37 · see citing works

Novel mutation in theCHST14gene causing musculocontractural type of Ehlers-Danlos syndrome

Sandal, S., Kaur, A., & Panigrahi, I. (2018) · BMJ Case Reports · doi:10.1136/bcr-2018-226165 · Cited by 10 · see citing works

Safe ECT in a Patient With the Ehlers–Danlos Syndrome

Sienaert, P. A., Binder, M. D., Houben, M., Bouckaert, F., Wyckaert, S., Hagon, B., Hagon, A., & Peuskens, J. (2003) · Journal of Ect · doi:10.1097/00124509-200312000-00010 · Cited by 9 · see citing works

Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency

Lorenz, D., Kreß, W., Zaum, A., Speer, C. P., & Hebestreit, H. U. (2021) · BMC Pediatrics · doi:10.1186/s12887-021-02767-0 · Cited by 3 · see citing works