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DOI:10.1001/ARCHDERM.1993.01680310086015 - Corpus ID: 37435741
@article{Lapire1993EhlersDanlosTV, title={Ehlers-Danlos type VII-C, or human dermatosparaxis. The offspring of a union between basic and clinical research.}, author={Ch. M. Lapi{\`e}re and Betty V. Nusgens}, journal={Archives of dermatology}, year={1993}, volume={129 10}, pages={ 1316-9 }, url={https://api.semanticscholar.org/CorpusID:37435741}}
- C. Lapière, B. Nusgens
- Published in Archives of Dermatology 1 October 1993
- Medicine
Nine types of Ehlers-Danlos syndrome can be defined at the present time, with a disease characterized by extreme joint laxity that Haas and Haas had already suggested in 1958 should be considered a clinical entity called arthrochalasis multiplex congenita .
23 Citations
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23 Citations
- R. SimonS. Kiener G. Lühken
- 2023
Medicine
G3
The identified ADAMTS2 variant is identified as pathogenic and most likely causative variant for the observed Ehlers–Danlos syndrome.
- J. JaffeyG. Bullock G. Johnson
- 2022
Medicine
Genes
The spectrum of clinical features of the canine dermatosparactic subtype of EDS is expanded and the potential utility of subclassifying canine EDS by the identity of gene harboring the causal variant is illustrated.
- C. I. CartyAlison M. Lee J. Cassidy
- 2016
Medicine
Irish Veterinary Journal
This is the first report of dermatosparaxis in the Limousin breed and the presentation of the dermatosParaxis phenotype has some noteworthy features thus further genetic testing is required to pinpoint the causative mutation or other genetic defect.
- 5
- PDF
- E. FeistG. Burmester
- 2010
Medicine
The Journal of Rheumatology
It again became evident that RA is not uniform, and new efforts have been made to identify markers for stratification of disease, also allowing prediction of response, and biomarkers to predict response are available.
- 1
- PDF
- H. MoritaT. Hasegawa A. Yoshimura
- 2002
Medicine
Virchows Archiv
The clinical course and renal pathology of this case were in accordance with collagenofibrotic glomerulopathy except for the widespread expression of collagen type V, which is a fibrillar collagen capable of forming banding fibrils.
- 20
- Carine Le GoffV. Cormier-Daire
- 2011
Medicine
Human molecular genetics
The aim of this review was to emphasize the role of this family in the extracellular matrix based on human phenotypes so far identified in relation with ADAMTS(L) mutations.
- 102
- PDF
- R. WenstrupG. LanglandM. WillingV. D'SouzaW. Cole
- 1996
Medicine, Biology
It is reported that genomic polymorphisms at the pro alpha 1(V) gene (COL5A1) locus cosegregated with the gravis form of Ehlers-Danlos syndrome (EDS) (type I) in a three generation family and linkage studies in other EDS I families indicate the disorder is heterogeneous.
- 92
- PDF
- R. WenstrupG. LanglandM. WillingV. D'SouzaW. Cole
- 1996
Biology, Medicine
Human molecular genetics
- 39
- Carine Le GoffR. Somerville S. Apte
- 2006
Biology, Medicine
Development
The data show how evolutionarily related proteases with similar substrate preferences may have distinct biological roles owing to tissue-specific gene expression, and provide insights into collagen biosynthesis and the pathobiology of dermatosparaxis.
- 112
- Highly Influenced
- PDF
- Russell J. FernandesS. Hirohata S. Apte
- 2001
Biology, Medicine
The Journal of Biological Chemistry
It is found that procollagen II is processed normally in dermatosparactic nasal cartilage, suggesting the existence of another N-propeptidase(s) and proposed that ADAMTS-3 is physiologically more relevant, given its preferred expression in cartilage.
- 227
- PDF
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37 References
- G. PiérardT. Hermanns‐LêJ. Arrese-EstradaC. Piérard‐franchimontC. Lapière
- 1993
Medicine
The American Journal of dermatopathology
The many morphological changes seen in Ehlers—Danlos syndrome, type VIIc, underscore the complexity of cell—matrix interactions in establishing a normal dermis.
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- S. JohnsonH. Falls
- 1949
Medicine
Archives of dermatology and syphilology
The PAUCITY of the literature on the Ehlers-Danlos syndrome in all fields except pediatrics and dermatology would make one believe that the condition has been arrogated by members of these two…
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- B. NusgensC. Dumoulin C. Lapière
- 1992
Medicine, Biology
Nature Genetics
Evidence for the existence of Ehlers–Danlos syndrome type VII C in humans is presented, characterized by skin fragility, altered polymers seen as hieroglyphic pictures with electron microscopy, accumulation of p–N–α1 and p– N–α2 collagen type I in the dermis and absence of processing of the p-N–I polypeptides in fibroblast cultures.
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- Lynne T. SmithWladimir Wertelecki Byerst
- 1992
Medicine
American journal of human genetics
These findings distinguish dermatosparaxis from Ehlers-Danlos syndrome type VII, which results from substrate mutations that prevent proteolytic processing of type I procollagen molecules.
- 95
- PDF
- Elizabeth M. PettyM. SeashoreI. BravermanSydney Z. SpieselLynne T. SmithL. Milstone
- 1993
Medicine
Archives of dermatology
The newly recognized phenotype of Ehlers-Danlos VII-C is a distinct connective tissue disorder characterized by marked skin fragility and laxity, blue sclerae, increased bruisability, micrognathia, umbilical hernia, and growth retardation.
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- B. SteinmannL. TudermanL. PeltonenG. MartinV. McKusickD. Prockop
- 1980
Medicine
The Journal of biological chemistry
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- Marina D'AlessioFrancesco Ramirez David W. Hollister
- 1991
Biology, Medicine
American journal of human genetics
A child affected by the type VII form of Ehlers-Danlos syndrome was shown to have a heterozygous structural defect in the amino-terminus of pro-alpha 1(I) collagen, which results in transcripts lacking exon 6 sequences and normally spliced transcripts.
- 41
- J. LichtensteinG. MartinL. KohnP. ByersV. McKusick
- 1973
Medicine
Science
Three patients with a form of the Ehlers-Danlos syndrome, a generalized disorder of connective tissue, have detectable amounts of procollagen in extracts of their skin and tendon, and Cultures of skin fibroblasts from these patients have an increased rate of synthesis of collagenous protein (collagen and Procollagen), possibly related to the inability of these cells to convertprocollagen to collagen.
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- D. F. CountsP. ByersK. HolbrookG. Hegreberg
- 1980
Biology, Medicine
The Journal of investigative dermatology
A Himalayan cat is identified which has deficient amino terminal procollagen peptidase activity and the disorder in this animal is milder than that in sheep and cattle which is reflected in the longer survival and relatively smaller proportion of pNalpha chains in skin.
- 62
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- J. Ramshaw
- 1984
Biology, Medicine
Collagen and related research
- 8
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