Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen
about
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypesAutosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathiaVariation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helixClinical and Molecular genetics of Stickler syndromeStickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologistTargeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED)Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2.Characterization of an abundant COL9A1 transcript in the cochlea with a novel 3' UTR: Expression studies and detection of miRNA target sequence.The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.The expression patterns of minor fibrillar collagens during development in zebrafish.Collagens and collagen-related diseases.Relating diseases by integrating gene associations and information flow through protein interaction networkCOL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromesLessons from genetic forms of osteoarthritis for the pathogenesis of the diseaseMinor fibrillar collagens, variable regions alternative splicing, intrinsic disorder, and tyrosine sulfationHearing impairment in Stickler syndrome: a systematic review.Detecting Positive Selection of Korean Native Goat Populations Using Next-Generation SequencingThe collagenopathies: review of clinical phenotypes and molecular correlations.Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.[EXPRESS] Single Nucleotide Polymorphism in the COL11A2 Gene Associated with Heat Pain Sensitivity in Knee OsteoarthritisA novel retinoic acid-response element requires an enhancer element mediator for transcriptional activation.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2Genetic analysis of COL11A2 in Korean patients with autosomal dominant non-syndromic hearing lossThe mechanical impact of loss on joints; mutant zebrafish show changes to joint development and function, which leads to early-onset osteoarthritisPhenotypic characterization of patients with early-onset high myopia due to mutations in or : Why not Stickler syndrome?
P2860
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P2860
Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen
description
1998 nî lūn-bûn
@nan
1998 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Stickler syndrome without eye ...... (XI) chain of type XI collagen
@ast
Stickler syndrome without eye ...... (XI) chain of type XI collagen
@en
Stickler syndrome without eye ...... (XI) chain of type XI collagen
@nl
type
label
Stickler syndrome without eye ...... (XI) chain of type XI collagen
@ast
Stickler syndrome without eye ...... (XI) chain of type XI collagen
@en
Stickler syndrome without eye ...... (XI) chain of type XI collagen
@nl
prefLabel
Stickler syndrome without eye ...... (XI) chain of type XI collagen
@ast
Stickler syndrome without eye ...... (XI) chain of type XI collagen
@en
Stickler syndrome without eye ...... (XI) chain of type XI collagen
@nl
P2093
P1476
Stickler syndrome without eye ...... (XI) chain of type XI collagen
@en
P2093
D A Sirko-Osadsa
M A Lavery
M A Murray
M L Warman
P304
P356
10.1016/S0022-3476(98)70466-4
P407
P577
1998-02-01T00:00:00Z