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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate α2β1 integrin, and recruit αvβ3 instead of α5β1 integrin
N Zoppi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Type V collagen controls the initiation of collagen fibril assembly
RJ Wenstrup et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Development of a functional skin matrix requires deposition of collagen V heterotrimers
H Chanut-Delalande et al.
MOLECULAR AND CELLULAR BIOLOGY (2004)
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): Report on 23 patients and review of the literature
H Al-Hussain et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Reduced type I collagen utilization: A pathogenic mechanism in COL5A1 halpo-insuffecient Ehlers-Danlos syndrome
RJ Wenstrup et al.
JOURNAL OF CELLULAR BIOCHEMISTRY (2004)
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway
U Schwarze et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Collagens -: structure, function, and biosynthesis
K Gelse et al.
ADVANCED DRUG DELIVERY REVIEWS (2003)
Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome
MC Zweers et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13
N Rahman et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
PCOLCE2 encodes a functional procollagen C-proteinase enhancer (PCPE2) that is a collagen-binding protein differing in distribution of expression and post-translational modification from the previously described PCPE1
BM Steiglitz et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Cloning and characterization of ADAMTS-14, a novel ADAMTS displaying high homology with ADAMTS-2 and ADAMTS-3
A Colige et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV
U Schwarze et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.
J Schalkwijk et al.
NEW ENGLAND JOURNAL OF MEDICINE (2001)
Procollagen II amino propeptide processing by ADAMTS-3 - Insights on dermatosparaxis
RJ Fernandes et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Impaired abdominal wall development and deficient wound healing in mice lacking aortic carboxypeptidase-like protein
MD Layne et al.
MOLECULAR AND CELLULAR BIOLOGY (2001)
Type V collagen: heterotypic type I/V collagen interactions in the regulation of fibril assembly
DE Birk
MICRON (2001)
Structural biology of C1: dissection of a complex molecular machinery
GJ Arlaud et al.
IMMUNOLOGICAL REVIEWS (2001)
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS
RJ Wenstrup et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
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)
U Schwarze et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
The pro-α3(V) collagen chain -: Complete primary structure, expression domains in adult and developing tissues, and comparison to the structures and expression domains of the other types V and XI procollagen chains
Y Imamura et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen
L Nuytinck et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI
HN Yeowell et al.
MOLECULAR GENETICS AND METABOLISM (2000)