The DOI matches its Crossref record; 36 of the 36 references it cites were found in a registry or an index.
A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency
Open accessAbstract
BACKGROUND: The Ehlers-Danlos syndrome is a heritable connective-tissue disorder caused by defects in fibrillar-collagen metabolism. Mutations in the type V collagen genes account for up to 50 percent of cases of classic Ehlers-Danlos syndrome, but many other cases are unexplained. We investigated whether the deficiency of the tenascins, extracellular-matrix proteins that are highly expressed in connective tissues, was associated with the Ehlers-Danlos syndrome. METHODS: We screened serum samples from 151 patients with the classic, hypermobility, or vascular types of the Ehlers-Danlos syndrome; 75 patients with psoriasis; 93 patients with rheumatoid arthritis; and 21 healthy persons for the presence of tenascin-X and tenascin-C by enzyme-linked immunosorbent assay. We examined the expression of tenascins and type V collagen in skin by immunohistochemical methods and sequenced the tenascin-X gene. RESULTS: Tenascin-X was present in serum from all normal subjects, all patients with psoriasis, all patients with rheumatoid arthritis, and 146 of 151 patients with the Ehlers-Danlos syndrome. Tenascin-X was absent from the serum of the 5 remaining patients with Ehlers-Danlos syndrome, who were unrelated. Tenascin-X deficiency was confirmed in these patients by analysis of skin fibroblasts and by immunostaining of skin. The expression of tenascin-C and type V collagen was normal in these patients. All five of these patients had hypermobile joints, hyperelastic skin, and easy bruising, without atrophic scarring. Tenascin-X mutations were identified in all tenascin-X-deficient patients; one patient had a homozygous tenascin-X gene deletion, one was heterozygous for the deletion, and three others had homozygous truncating point mutations, confirming a causative role for tenascin-X and a recessive pattern of inheritance. CONCLUSIONS: Tenascin-X deficiency causes a clinically distinct, recessive form of the Ehlers-Danlos syndrome. This finding indicates that factors other than the collagens or collagen-processing enzymes can cause the syndrome and suggests a central role for tenascin-X in maintaining the integrity of collagenous matrix.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“The absence of TNX throughout the body leads to a phenotype resembling the classical type of EDS.”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Schalkwijk et al., 2001
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Tenascin-X deficiency causes a clinically distinct, more severe form of EDS, either with or without associated 21-hydroxylase deficiency (405).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [405]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Complete tenascinX de fi ciency has been reported to cause classic EDS (Online Mendelian Inheritance in Man number 130000) in an autosomal recessive manner, 9 whereas the most prevalent type of hypermobile EDS is associated with defects in tenascin-X in an autosomal dominant manner. 10,12,13”
From High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. (2019) · cites this paper as [9]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“The serum tenascin-X test based on enzyme-linked immunosorbent assay has been used to identify complete de fi ciency, but it is not accurate in identifying heterozygous forms and is not commercially available for general practice. 9,10”
From High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. (2019) · cites this paper as [9]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Hypermobility-type EDS, the most common type of EDS, has been associated with TNXB defects, but the etiology is mostly unknown. 9”
From High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. (2019) · cites this paper as [9]
Experimental — accuracy not yet measured
The cited source says what the claim attributes to it.
In the citing paper
“Patients with clEDS are completely depleted of the TNX protein in serum.”
From The 2017 international classification of the Ehlers–Danlos syndromes (2017) · cites this paper as Schalkwijk et al., 2001
The cited source says what the claim attributes to it.
In the citing paper
“The authors concluded that the TNX-deficient type is very similar to the classical type of EDS with two major differences: (1) No atrophic scarring was apparent, and (2) the inheritance pattern was autosomal recessive.”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Schalkwijk et al. [2001]
The cited source says what the claim attributes to it.
In the citing paper
“They detected a complete TNX deficiency in five EDS patients and three affected siblings (one of which with the contiguous gene syndrome).”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Schalkwijk et al. [2001]
In the citing paper
“Despite the significant advances in molecular genetic techniques, attempts to disclose the genetic cause(s) of hEDS have been so far inconclusive.”
From Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes (2019) · cites this paper as [112]
In the citing paper
“Several studies struggled to define its genetic etiology but without compelling evidence, corroborating the hypothesis of a high genetic heterogeneity of the condition [112,113,114,115].”
From Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes (2019) · cites this paper as [112]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
The molecular elasticity of the extracellular matrix protein tenascin
Oberhauser, A. F., Marszałek, P. E., Erickson, H., & Fernández, J. M. (1998) · Nature · doi:10.1038/30270 · Cited by 841
International nosology of heritable disorders of connective tissue, Berlin, 1986
Beighton, P., de Paepe, A., Danks, D., Finidori, G., Gedde‐Dahl, T., Goodman, R., Hall, J. G., Hollister, D. W., Horton, W., McKusick, V. A., et al. (1988) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320290316 · Cited by 732
Tenascin-C, tenascin-R and tenascin-X: a family of talented proteins in search of functions
Erickson, H. (1993) · Current Opinion in Cell Biology · doi:10.1016/0955-0674(93)90037-q · Cited by 399
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
Self-citationTenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B
Bristow, J., Tee, M., Gitelman, S., Mellon, S., & Miller, W. (1993) · The Journal of cell biology · doi:10.1083/jcb.122.1.265 · Cited by 302
Self-citationThe Ehlers-Danlos syndrome: on beyond collagens
Mao, J.-R., & Bristow, J. (2001) · Journal of Clinical Investigation · doi:10.1172/jci12881 · Cited by 233
Self-citationThe distribution of tenascin-X is distinct and often reciprocal to that of tenascin-C.
Matsumoto, K., Saga, Y., Ikemura, T., Sakakura, T., & Chiquet‐Ehrismann, R. (1994) · The Journal of Cell Biology · doi:10.1083/jcb.125.2.483 · Cited by 174
Smith, F. J. D., Corden, L. D., Rugg, E. L., Ratnavel, R. C., Leigh, I. M., Moss, C., Tidman, M. J., Hohl, D., Huber, M., Kunkeler, L., et al. (1997) · Journal of Investigative Dermatology · doi:10.1111/1523-1747.ep12335315 · Cited by 166
Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.
Paepe, A. D., Nuytinck, L., Haußer, I., Anton‐Lamprecht, I., & Naeyaert, J. M. (1997) · Europe PMC (PubMed Central) · Cited by 165
Morel, Y., Bristow, J., Gitelman, S. E., & Miller, W. L. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.17.6582 · Cited by 158
Self-citation
Research works printed but not linked: 5
- Vogel A, 1979, Lab Invest, 40, 201
- Smith LT, 1992, Am J Hum Genet, 51, 235
- De Paepe A, 1997, Am J Hum Genet, 60, 547
- Schalkwijk J, 1991, Am J Pathol, 139, 1143
- Mackie EJ, 1996, J Anat, 188, 157
Cited by
Sorted by citations
Items 201–300 of 391
Resequencing of candidate genes for Keratoconus reveals a role for Ehlers–Danlos Syndrome genes
Fransén, E., Valgaeren, H., Janssens, K., Sommen, M., Ridder, R. D., Vandeweyer, G., Bisceglia, L., Soler, V. J., Hoischen, A., Mortier, G. R., et al. (2021) · European Journal of Human Genetics · doi:10.1038/s41431-021-00849-2 · Cited by 22
Biomarkers for Ehlers-Danlos Syndromes: There Is a Role?
Caliogna, L., Guerrieri, V., Annunziata, S., Bina, V., Brancato, A. M., Castelli, A., Jannelli, E., Ivone, A., Grassi, F. A., Mosconi, M., et al. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms221810149 · Cited by 21
Morissette, R., Merke, D. P., & McDonnell, N. B. (2014) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2013.12.004 · Cited by 21
Matrix Molecules and Their Ligands
Olsen, B. R. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-398358-9.00010-0 · Cited by 21
Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome
Marino, R. M., Moresco, A., Garrido, N. P., Ramírez, P., & Belgorosky, A. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.803226 · Cited by 22
Wang, K., Zhao, S., Zhang, Q., Yuan, J., Liu, J., Ding, X., Song, X., Lin, J., Du, R., Zhou, Y., et al. (2018) · Journal of Human Genetics · doi:10.1038/s10038-018-0496-x · Cited by 20
Zweers, M., Peeters, A. C., Graafsma, S., Kranendonk, S., van der Vliet, J. A., den Heijer, M., & Schalkwijk, J. (2006) · Circulation · doi:10.1161/circulationaha.104.513820 · Cited by 21
Self-citationTenascin-X as a causal gene for classical-like Ehlers-Danlos syndrome
Okuda‐Ashitaka, E., & Matsumoto, K. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1107787 · Cited by 21
Secretome Identifies Tenascin-X as a Potent Marker of Ovarian Cancer
Kramer, M. C., Pierredon, S., Ribaux, P., Tille, J., Petignat, P., & Cohen, M. (2015) · BioMed Research International · doi:10.1155/2015/208017 · Cited by 19
Uitto, J., Pulkkinen, L., & Ringpfeil, F. (2002) · Journal of Investigative Dermatology Symposium Proceedings · doi:10.1046/j.1523-1747.2002.19637.x · Cited by 19
Koppens, P. F. J., Smeets, H. J. M., de Wijs, I. J., & Degenhart, H. J. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.5.e53 · Cited by 19
Neuromuscular properties of the thigh muscles in patients with ehlers–danlos syndrome
Gerrits, K. H. L., Voermans, N. C., de Haan, A., & van Engelen, B. G. (2013) · Muscle & Nerve · doi:10.1002/mus.23482 · Cited by 18
Castori, M. (2013) · PubMed · Cited by 18
Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome
Micale, L., Guarnieri, V., Augello, B., Palumbo, O., Agolini, E., Sofia, V. M., Mazza, T., Novelli, A., Carella, M., & Castori, M. (2019) · Genes · doi:10.3390/genes10120967 · Cited by 19
Tenascin-X Induces Cell Detachment through p38 Mitogen-Activated Protein Kinase Activation
Fujie, S., Maita, H., Ariga, H., & Matsumoto, K. (2009) · Biological and Pharmaceutical Bulletin · doi:10.1248/bpb.32.1795 · Cited by 18
Disorders of Connective Tissue
Burrows, N., & Lovell, C. R. (2010) · Wiley eBooks · doi:10.1002/9781444317633.ch45 · Cited by 18
Patient-derived extracellular matrix demonstrates role of COL3A1 in blood vessel mechanics
Doherty, E. L., Aw, W. Y., Warren, E. C., Hockenberry, M. A., Whitworth, C. P., Krohn, G., Howell, S., Diekman, B. O., Legant, W. R., Nia, H. T., et al. (2023) · Acta Biomaterialia · doi:10.1016/j.actbio.2023.05.015 · Cited by 19
Mechanical allodynia in mice with tenascin-X deficiency associated with Ehlers-Danlos syndrome
Okuda‐Ashitaka, E., Kakuchi, Y., Kakumoto, H., Yamanishi, S., Kamada, H., Yoshidu, T., Matsukawa, S., Ogura, N., Uto, S., Minami, T., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-63499-2 · Cited by 17
Paladin, L., Tosatto, S. C. E., & Minervini, G. (2015) · FEBS Letters · doi:10.1016/j.febslet.2015.11.022 · Cited by 17
Diversity of the CYP21P -Like Gene in CYP21 Deficiency
Lee, H.-H. (2005) · DNA and Cell Biology · doi:10.1089/dna.2005.24.1 · Cited by 17
Disordered Electron Transfer: New Forms of Defective Steroidogenesis and Mitochondriopathy
Miller, W. L., Pandey, A. V., & Flück, C. E. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae815 · Cited by 17
Self-citationA method for quantification of serum tenascin-X by nano-LC/MS/MS
Yamada, K., Watanabe, A., Takeshita, H., & Matsumoto, K. (2016) · Clinica Chimica Acta · doi:10.1016/j.cca.2016.05.022 · Cited by 16
Lao, Q., Mallappa, A., Faucz, F. R., Joyal, E., Veeraraghavan, P., Chen, W., & Merke, D. P. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1556 · Cited by 16
Identification and characterization of multiple species of tenascin‐X in human serum
Egging, D. F., Peeters, A. C. T. M., Grebenchtchikov, N. I., Geurts-Moespot, A. J., Sweep, F. C. G. J., den Heijer, M., & Schalkwijk, J. (2007) · FEBS Journal · doi:10.1111/j.1742-4658.2007.05671.x · Cited by 16
Self-citationBell, P. A., Wagener, R., Zaucke, F., Koch, M., Selley, J., Warwood, S., Knight, D., Boot-Handford, R., Thornton, D., & Briggs, M. (2013) · Biology Open · doi:10.1242/bio.20135280 · Cited by 13
Understanding the basis of Ehlers–Danlos syndrome in the era of the next-generation sequencing
Cortini, F., Villa, C., Marinelli, B., Combi, R., Pesatori, A. C., & Bassotti, A. (2019) · Archives of Dermatological Research · doi:10.1007/s00403-019-01894-0 · Cited by 15
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 17
Abnormal oral mucosal light reflectance: a new clinical sign of Ehlers-Danlos syndrome.
Parrini, S., Bellosi, A., Barducci, A., Bianciardi, G., Latini, G., & Felice, C. D. (2004) · Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics · doi:10.1016/j.tripleo.2003.10.017 · Cited by 15
The Adrenal Cortex and Its Disorders
Miller, W. L., Flück, C. E., Breault, D. T., & Feldman, B. J. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-62520-3.00014-2 · Cited by 14
Self-citationCAH-X Syndrome: Genetic and Clinical Profile
Concolino, P., & Falhammar, H. (2022) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-022-00588-0 · Cited by 14
Minamitani, T., Ariga, H., & Matsumoto, K. (2002) · Biological and Pharmaceutical Bulletin · doi:10.1248/bpb.25.1472 · Cited by 14
Tenascin XB Is a Novel Diagnostic Marker for Malignant Mesothelioma
NAKAYAMA, K., Seike, M., Noro, R., Takeuchi, S., Matsuda, K., Kunugi, S., Kubota, K., & Gemma, A. (2019) · Anticancer Research · doi:10.21873/anticanres.13156 · Cited by 14
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 16
WENSTRUP, R. J., & Hoechstetter, L. (2005) · Wiley eBooks · doi:10.1002/0471695998.mgs019 · Cited by 14
Paragliola, R. M., Perrucci, A., Foca, L., Urbani, A., & Concolino, P. (2022) · Journal of Clinical Medicine · doi:10.3390/jcm11133818 · Cited by 15
Trachea Rupture in Tenascin-X-deficient Type Ehlers–Danlos Syndrome
Besselink-Lobanova, A., Maandag, N. J. G., Voermans, N. C., van der Heijden, E. H. F. M., van der Hoeven, J. G., & Heunks, L. M. A. (2010) · Anesthesiology · doi:10.1097/aln.0b013e3181e19c0f · Cited by 13
Matricellular proteins: Potential biomarkers and mechanistic factors in aortic aneurysms
Li, Z., Cong, X., & Kong, W. (2022) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2022.05.001 · Cited by 13
Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome.
Bauer, A., Lucia, M. D., Leuthard, F., Jagannathan, V., & Leeb, T. (2019) · Animal Genetics · doi:10.1111/age.12830 · Cited by 13
Le syndrome d’Ehlers-Danlos : l’architecture matricielle en question
Fichard, A., Chanut-Delalande, H., & Ruggiero, F. (2003) · médecine/sciences · doi:10.1051/medsci/2003194443 · Cited by 13
PCR-based Detection of CYP21 Deletions
Koppens, P. F. J., & DEGENHART, H. J. (2003) · Clinical Chemistry · doi:10.1373/49.9.1555 · Cited by 13
Concolino, P., & Falhammar, H. (2025) · Journal of the Endocrine Society · doi:10.1210/jendso/bvaf018 · Cited by 12
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 15
Tsai, L., Cheng, C., Hsieh, J.-P., Teng, M., & Lee, H.-H. (2009) · Clinica Chimica Acta · doi:10.1016/j.cca.2009.09.020 · Cited by 12
A potential contribution of tenascin-X to blood vessel formation in peripheral nerves
Sakai, H., Yokota, S., Kajitani, N., Yoneyama, T., Kawakami, K., Yasui, Y., & Matsumoto, K. (2017) · Neuroscience Research · doi:10.1016/j.neures.2017.06.003 · Cited by 12
Variants of the CYP21A2 and CYP21A1P genes in congenital adrenal hyperplasia
Lee, H.-H. (2013) · Clinica Chimica Acta · doi:10.1016/j.cca.2012.12.030 · Cited by 12
Characterization of Mouse Serum Tenascin-X
Matsumoto, K., Kinoshita, T., Hirose, T., & Ariga, H. (2006) · DNA and Cell Biology · doi:10.1089/dna.2006.25.448 · Cited by 12
Localization and Analysis of the Principal Promoter for Human Tenascin-X
Wijesuriya, S. D., Bristow, J. D., & Miller, W. L. (2002) · Genomics · doi:10.1006/geno.2002.6852 · Cited by 12
Self-citationByers, P. H. (2001) · New England Journal of Medicine · doi:10.1056/nejm200110183451611 · Cited by 12
Folate-dependent hypermobility syndrome: A proposed mechanism and diagnosis
Courseault, J., Kingry, C., Morrison, V. E., Edstrom, C., Morrell, K., Jaubert, L., Elia, V., & Bix, G. J. (2023) · Heliyon · doi:10.1016/j.heliyon.2023.e15387 · Cited by 11
Bohora, S. (2010) · PubMed Central · Cited by 12
Zweers, M., Schalkwijk, J., van Kuppevelt, T., van Vlijmen-Willems, I., Bergers, M., Lethias, C., & Lamme, E. (2005) · Cell and Tissue Research · doi:10.1007/s00441-004-1011-6 · Cited by 13
Self-citationLee, H.-H., Tsai, F., Lee, Y.-J., & Yang, Y. (2006) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2006.03.013 · Cited by 11
Hamel, B. C. J. (2004) · PubMed · Cited by 11
Burrows, N. (2019) · Wiley eBooks · doi:10.1002/9781119142812.ch93 · Cited by 11
Kamada, H., Emura, K., Yamamoto, R., Kawahara, K., Uto, S., Minami, T., Ito, S., Matsumoto, K., & Okuda‐Ashitaka, E. (2023) · Scientific Reports · doi:10.1038/s41598-023-45638-7 · Cited by 10
Zhang, R., Cui, D., Song, C., Ma, X., Cai, N., Zhang, Y., Feng, M., Cao, Y., Chen, L., & Qiang, R. (2024) · Clinica Chimica Acta · doi:10.1016/j.cca.2024.117820 · Cited by 10
Tenascins and osteopontin in biological response in cornea
Sumioka, T., Matsumoto, K., Reinach, P. S., & Saika, S. (2023) · The Ocular Surface · doi:10.1016/j.jtos.2023.05.005 · Cited by 10
Macronodular adrenocortical hyperplasia in a postmenopausal woman.
Mijnhout, G. S., Danner, S. A., van de Goot, F. R. W., & van Dam, E. W. C. M. (2004) · PubMed · Cited by 10
Suppression of hepatic dysfunction in tenascin-X-deficient mice fed a high-fat diet
Yamaguchi, S., Kawakami, K., Satoh, K., Fukunaga, N., Akama, K., & Matsumoto, K.-I. (2017) · Molecular Medicine Reports · doi:10.3892/mmr.2017.7052 · Cited by 8
Tuna, F., Doğanlar, Z. B., Özdemir, H., Kabayel, D. D., & Doğanlar, O. (2019) · Connective Tissue Research · doi:10.1080/03008207.2019.1675648 · Cited by 10
Lee, H.-H., Lee, Y., & Chao, M. (2009) · Analytical Biochemistry · doi:10.1016/j.ab.2009.11.037 · Cited by 9
Ehlers–Danlos syndrome: A cause of epilepsy and periventricular heterotopia
Verrotti, A., Monacelli, D., Castagnino, M., Villa, M. P., & Parisi, P. (2014) · Seizure · doi:10.1016/j.seizure.2014.07.014 · Cited by 9
Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive
Pinto, R. J. A. D. O., dos Santos, A. A., Azevedo, M. D. C., & Meira, S. S. (2015) · Anais Brasileiros de Dermatologia · doi:10.1590/abd1806-4841.20153824 · Cited by 9
Ehlers-Danlos syndrome-molecular genetics beyond the collagens.
Uitto, J., & Ringpfeil, F. (2004) · Journal of Investigative Dermatology · doi:10.1111/j.0022-202x.2004.22435.x · Cited by 10
Rapid, accurate long- and short-read mapping to large pangenome graphs with vg GiraffePreprint
Chang, X. H., Novak, A. M., Eizenga, J. M., Sirén, J., Monlong, J., Negi, S., Andreace, F., Nag, S., Kyriakidis, K., Hickey, G., et al. (2025) · Research Square · doi:10.1101/2025.09.29.678807 · Cited by 11
Fukuda, Y., Higuchi, Y., Shinozaki, K., Tanigawa, Y., Abe, T., Hanaoka, N., Matsubayashi, S., Yamaguchi, T., Kosho, T., & Nakamichi, K. (2017) · Internal Medicine · doi:10.2169/internalmedicine.8758-16 · Cited by 8
Yamaguchi, T., Yamada, K., Nagai, S., Nishikubo, T., Koitabashi, N., Minami‐Hori, M., Matsushima, M., Shibata, Y., Ishiguro, H., Sanai, H., et al. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1234804 · Cited by 8
Germain, D. P. (2017) · Annales de Dermatologie et de Vénéréologie · doi:10.1016/j.annder.2017.06.017 · Cited by 8
Kolli, V., Kim, H., Rao, H., Lao, Q., Gaynor, A., Milner, J. D., & Merke, D. P. (2019) · BMC Research Notes · doi:10.1186/s13104-019-4753-7 · Cited by 8
Brisset, M., Métay, C., Carlier, R., Badosa, C., Marques, C., Schalkwijk, J., vanVlijmen-Willems, I., Jimenez-Mallebrera, C., Keren, B., Jobic, V., et al. (2020) · Neuromuscular Disorders · doi:10.1016/j.nmd.2020.09.002 · Cited by 8
Self-citationMatsumoto, K., Sato, T., Oka, S., Orba, Y., Sawa, H., Kabayama, K., Inokuchi, J., & Ariga, H. (2004) · Genes to Cells · doi:10.1111/j.1356-9597.2004.00755.x · Cited by 8
Tinkle, B. T. (2020) · Wiley eBooks · doi:10.1002/9781119432692.ch25 · Cited by 8
Measurement of Serum Tenascin-X in Joint Hypermobility Syndrome Patients
Yamada, K., Watanabe, A., Takeshita, H., Fujita, A., Miyake, N., Matsumoto, N., & Matsumoto, K. (2019) · Biological and Pharmaceutical Bulletin · doi:10.1248/bpb.b19-00168 · Cited by 7
Cardenas, S. M. C., El-Kaissi, S., Jarad, O., Liaqat, M., Korbonits, M., & Hamrahian, A. H. (2020) · Journal of the Endocrine Society · doi:10.1210/jendso/bvaa077 · Cited by 7
Matsumoto, K., Kawakami, K., Yamada, K., & Takeshita, H. (2022) · Molecular Medicine Reports · doi:10.3892/mmr.2022.12846 · Cited by 8
Joint Hypermobility Syndrome and Membrane Proteins: A Comprehensive Review
Pliego-Arreaga, R., Cervantes‐Montelongo, J. A., Silva-Martínez, G. A., Tristán-Flores, F. E., Pantoja-Hernández, M. Á., & Maldonado-Coronado, J. R. (2024) · Biomolecules · doi:10.3390/biom14040472 · Cited by 8
Wound Repair Capability in EDS Fibroblasts can be Retrieved by Exogenous Type V Collagen
Viglio, S., Zoppi, N., Sangalli, A., Gallanti, A., Barlati, S., Mottes, M., Colombi, M., & Valli, M. (2008) · The Scientific World JOURNAL · doi:10.1100/tsw.2008.131 · Cited by 5
Primary Disorders of Connective Tissue
Cole, W. G., & Mäkitie, O. (2015) · Elsevier eBooks · doi:10.1016/b978-0-323-24145-8.00054-5 · Cited by 6
Increased expression of tenascin-x in thoracic and abdominal aortic aneurysm tissues.
Satoh, K., Tsukamoto, M., Shindoh, M., Totsuka, Y., Oda, T., & Matsumoto, K.-I. (2010) · Biological and Pharmaceutical Bulletin · doi:10.1248/bpb.33.1898 · Cited by 5
Ajayi, O. O., Adefenwa, M. A., Agaviezor, B. O., Ikeobi, C. O. N., Wheto, M., Okpeku, M., Amusan, S. A., Yakubu, A., Donato, M. D., PETERS, S. O., et al. (2013) · Biochemical Genetics · doi:10.1007/s10528-013-9622-9 · Cited by 6
Byers, P. H. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00161-0 · Cited by 7
The Spectrum of Pediatric Osteoporosis
Bianchi, M. L., & Glorieux, F. H. (2011) · Elsevier eBooks · doi:10.1016/b978-0-12-382040-2.10018-8 · Cited by 6
Hermanns‐Lê, T., Pierard, G., Piérard-Franchimont, C., & Delvenne, P. (2014) · Gynecology · doi:10.7243/2052-6210-2-1 · Cited by 6
Lee, Y., Tsai, L., Niu, D., Shu, S., Chao, M., & Lee, H.-H. (2009) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2009.01.001 · Cited by 5
Mechanical Strain and Growth Factors Regulate Expression of Tenascin-C by OS Cells Additively
Wang, Y., Man, Y., Ding, Y., Ma, B., Qiu, X., Fan, Q., & Zheng, L. (2012) · Oncology Research Featuring Preclinical and Clinical Cancer Therapeutics · doi:10.3727/096504013x13728687793317 · Cited by 5
An old drug for a rare disease: The example of celiprolol for vascular Ehlers-Danlos syndrome
Boutouyrie, P. (2020) · Therapies · doi:10.1016/j.therap.2020.02.009 · Cited by 5
Collagens in the Physiopathology of the Ehlers–Danlos Syndromes
Malfait, F., Vroman, R., Colman, M., & Syx, D. (2021) · Biology of extracellular matrix · doi:10.1007/978-3-030-67592-9_3 · Cited by 4
Open angle glaucoma in a case of Type IV Ehler Danlos syndrome: A rarely reported association
Mitra, A., Ramakrishnan, R., & Kader, M. (2014) · Indian Journal of Ophthalmology · doi:10.4103/0301-4738.141060 · Cited by 5
Bodner‐Adler, B., Bodner, K., Kimberger, O., Halpern, K., Schneidinger, C., Haslinger, P., Schneeberger, C., Horvat, R., & Umek, W. H. (2018) · International Urogynecology Journal · doi:10.1007/s00192-018-3820-2 · Cited by 5
Jaatinen, T., Chung, E. K., Ruuskanen, O., & Lokki, M. (2002) · Human Immunology · doi:10.1016/s0198-8859(02)00416-0 · Cited by 5
The Principles, Enzymes, and Pathways of Human Steroidogenesis
Auchus, R. J., & Miller, W. L. (2010) · Elsevier eBooks · doi:10.1016/b978-1-4160-5583-9.00096-4 · Cited by 6
Self-citationTinkle, B. T., & Atzinger, C. (2010) · Wiley eBooks · doi:10.1002/9780470893159.ch24 · Cited by 5
Burrows, N., Sidhu‐Malik, N., & Yeowell, H. N. (2011) · Wiley eBooks · doi:10.1002/9781444345384.ch142 · Cited by 5
Genetics of the Ehlers–Danlos syndrome: More than collagen disorders
Van Damme, T., Syx, D., Coucke, P., Symoens, S., De Paepe, A., & Malfait, F. (2015) · Expert Opinion on Orphan Drugs · doi:10.1517/21678707.2015.1022528 · Cited by 4
Fanis, P., Skordis, N., Phylactou, L. A., & Neocleous, V. (2023) · HORMONES · doi:10.1007/s42000-022-00410-w · Cited by 4
“More specifically, our case has normal skin when compared to certain patients with biallelic CAH-X genotype and who typically demonstrate skin laxity and abnormal wound healing [45, 46].”
ResultRitelli, M., Cinquina, V., Venturini, M., & Colombi, M. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1422 · Cited by 4
Genetic variants in patients with multiple arterial aneurysms
Körfer, D., Grond‐Ginsbach, C., Peters, A. S., Burkart, S., Hempel, M., Schaaf, C. P., Böckler, D., & Erhart, P. (2024) · Langenbeck s Archives of Surgery · doi:10.1007/s00423-024-03488-5 · Cited by 4
Congenital Adrenal Hyperplasia, Ovarian Failure and Ehlers-Danlos Syndrome due to a 6p Deletion
Moysés‐Oliveira, M., Mancini, T. I., Takeno, S. S., Rodrigues, A. D. S., Bachega, T. A. S. S., Bertola, D. R., & Melaragno, M. I. (2014) · Sexual Development · doi:10.1159/000363779 · Cited by 4
Santoreneos, R., Vakulin, C., Ellul, M., Rawlings, L. H., Hardy, T., & Poplawski, N. K. (2022) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62674 · Cited by 3
Skin Ultrastructural Clues on the Impact of Ehlers-Danlos Syndrome in Women
Hermanns‐Lê, T. (2016) · Journal of Dermatological Research · doi:10.17554/j.issn.2413-8223.2016.01.9 · Cited by 4
Metadata
- Authors
- 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.
- Affiliations
- University of California, San Francisco (US)
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2001-10-18
- Volume
- 345
- Issue
- 16
- Pages
- 1167-1175
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2046338893
- Semantic Scholar
- fb524f34abb89b504a157e8b181849e317576e8b
- Cited by
- 391
- References
- 36
- Citations by year
- 2026: 7 · 2025: 11 · 2024: 9 · 2023: 8 · 2022: 16 · 2021: 15 · 2020: 20 · 2019: 22 · 2018: 11 · 2017: 11 · 2016: 13 · 2015: 20 · 2014: 17 · 2013: 21 · 2012: 17
- FWCI
- 9.28
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- Funders
- National Institutes of Health (5k08hl002695-02, 5r01dk042154-09)
- National Heart, Lung, and Blood Institute (HL 02695)
- National Institute of Diabetes and Digestive and Kidney Diseases (DK-37922, DK 42154, R01DK037922)
- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Skin and Cellular Biology Research
- Keywords
- Ehlers-Danlos syndrome, recessive inheritance, connective tissue diseases, tenascin-C, type V collagen, extracellular matrix proteins, joint hypermobility, dermal fibroblasts, gene deletion
- MeSH terms
- Arthritis, Rheumatoid, DNA Mutational Analysis, Ehlers-Danlos Syndrome, Female, Genes, Recessive, Humans, Male, Pedigree, Psoriasis, Reference Values, Skin, Gene Deletion, Point Mutation, Tenascin
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
