1997
DOI: 10.1002/(sici)1098-1004(1997)9:4<300::aid-humu2>3.0.co;2-9
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Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

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Cited by 322 publications
(134 citation statements)
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“…There is, however, locus heterogeneity with some families having mutations in the COL11A1 (1p21) or COL11A2 (6p21) genes (see Human Gene Mutation Database http://www.uwcm.ac.uk/uwcm/mg/hgmd0.html). Mutations in COL2A1 causing Stickler syndrome are usually nucleotide substitutions, small deletions or insertions, all resulting in premature translation termination (Kuivaniemi et al, 1997). Our analysis of a three-generation family with Stickler syndrome reveals a novel type of mutation, shedding light on the molecular aetiology of the syndrome.…”
Section: Introductionmentioning
confidence: 76%
“…There is, however, locus heterogeneity with some families having mutations in the COL11A1 (1p21) or COL11A2 (6p21) genes (see Human Gene Mutation Database http://www.uwcm.ac.uk/uwcm/mg/hgmd0.html). Mutations in COL2A1 causing Stickler syndrome are usually nucleotide substitutions, small deletions or insertions, all resulting in premature translation termination (Kuivaniemi et al, 1997). Our analysis of a three-generation family with Stickler syndrome reveals a novel type of mutation, shedding light on the molecular aetiology of the syndrome.…”
Section: Introductionmentioning
confidence: 76%
“…In addition, other skeletal abnormalities, such as pseudoachondrodysplasia (PSACH) or multiple epiphyseal dysplasia (MED) are caused by mutations in cartilage ECM proteins like collagens II, IX, X, and XI, or aggrecan, COMP, and matrilin-3. (26)(27)(28)(29)34,(37)(38)(39)(40)(41)(42)(43) ER stress is thought to constitute the underlying common disease mechanism due to retention of abnormal, improperly folded proteins within the ER. The cells can be rescued after the ER stress-induced unfolded protein response, which arrests the cell cycle, reduces the general protein synthesis, and enhances the production of new chaperones facilitating additional folding processes.…”
Section: Discussionmentioning
confidence: 99%
“…very old person to whom we did not perform genetic analysis. Pepin et al, 2014), there is variability between different affected members within the same family (Kuivaniemi et al, 1997). Reducing penetrance of vEDS has been observed in families with haploinsufficiency mutations, but it is rather uncommon in families with missense mutations (http://www.ncbi.nlm.nih.gov/books/ NBK1494/).…”
Section: Discussionmentioning
confidence: 99%
“…The diagnosis is confirmed by the detection of abnormal type III procollagen or of a mutation in the COL3A1 gene, and is based on the presence of at least two out of four major diagnostic criteria (Beighton et al, 1998) (thin translucent skin with visible veins, extensive-easy bruising, characteristic facial appearance, arterial, intestinal or uterine fragility or rupture). Of note, CeAD has been odserved in 2% of patients with genetically described vEDS (North et al, 1995, Pepin et al, 2000, and vEDS was found in less than 2% among large CeAD series (Debette and Markus, 2009). Although vEDS appears to be genetically homogeneous, there is remarkable allelic heterogeneity, which results in varied natural history with gender and type of mutation of a COL3A1 (Pepin et al, 2014).…”
Section: Introductionmentioning
confidence: 99%