A Recessive Form of the Ehlers–Danlos Syndrome Caused by Tenascin-X Deficiency
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- 18 October 2001
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 345 (16) , 1167-1175
- https://doi.org/10.1056/nejmoa002939
Abstract
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.Keywords
This publication has 29 references indexed in Scilit:
- 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)American Journal of Human Genetics, 2000
- COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDSAmerican Journal of Human Genetics, 2000
- Tenascin-C is not a Useful Marker for Disease Activity in PsoriasisActa Dermato-Venereologica, 1998
- A tenascin knockout with a phenotypeNature Genetics, 1997
- Missense Mutations in Keratin 17 Cause Either Pachyonychia Congenita Type 2 or a Phenotype Resembling Steatocystoma MultiplexJournal of Investigative Dermatology, 1997
- A translocation interrupts the COL5A1 gene in a patient with Ehlers–Danlos syndrome and hypomelanosis of ItoNature Genetics, 1996
- Flexilin: A new extracellular maxtrix glycoprotein localized on collagen fibrilsMatrix Biology, 1996
- Sequences Promoting the Transcription of the Human XA Gene Overlapping P450c21A Correctly Predict the Presence of a Novel, Adrenal-Specific, Truncated Form of Tenascin-XGenomics, 1995
- The distribution of tenascin-X is distinct and often reciprocal to that of tenascin-C.The Journal of cell biology, 1994
- Tenascin expression in basal cell carcinomaBritish Journal of Dermatology, 1992