COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS
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COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome IIOrder of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type IRegulation of collagen fibril nucleation and initial fibril assembly involves coordinate interactions with collagens V and XI in developing tendonDevelopment of a functional skin matrix requires deposition of collagen V heterotrimersALK1 signalling analysis identifies angiogenesis related genes and reveals disparity between TGF-beta and constitutively active receptor induced gene expressionRare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.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.Heritable collagen disorders: from genotype to phenotype.Collagens and collagen-related diseases.The Ehlers-Danlos syndrome: on beyond collagensHemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiencyTreatment of periodontal disease in a patient with Ehlers-Danlos syndrome. A case report and literature review.Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).Novel insights into the function and dynamics of extracellular matrix in liver fibrosis.Collagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model.Minor fibrillar collagens, variable regions alternative splicing, intrinsic disorder, and tyrosine sulfationExtracellular matrix remodeling: the common denominator in connective tissue diseases. Possibilities for evaluation and current understanding of the matrix as more than a passive architecture, but a key player in tissue failure.Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutationsAltered dermal fibroblast behavior in a collagen V haploinsufficient murine model of classic Ehlers-Danlos syndrome.Combinatorial interaction between CCM pathway genes precipitates hemorrhagic stroke.Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.Molecular and developmental mechanisms of congenital heart valve disease.The Ehlers-Danlos syndrome, a disorder with many faces.Ehlers-Danlos syndrome, classical type.Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations.Human COL5A1 polymorphisms and quadriceps muscle-tendon mechanical stiffness in vivo.
P2860
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P2860
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS
description
2000 nî lūn-bûn
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2000 թվականի ապրիլին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年论文
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name
COL5A1 haploinsufficiency is a ...... ying the classical form of EDS
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COL5A1 haploinsufficiency is a ...... ying the classical form of EDS
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COL5A1 haploinsufficiency is a ...... ying the classical form of EDS
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COL5A1 haploinsufficiency is a ...... ying the classical form of EDS
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COL5A1 haploinsufficiency is a ...... ying the classical form of EDS
@ast
COL5A1 haploinsufficiency is a ...... ying the classical form of EDS
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COL5A1 haploinsufficiency is a ...... ying the classical form of EDS
@en-gb
COL5A1 haploinsufficiency is a ...... ying the classical form of EDS
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prefLabel
COL5A1 haploinsufficiency is a ...... ying the classical form of EDS
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COL5A1 haploinsufficiency is a ...... ying the classical form of EDS
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COL5A1 haploinsufficiency is a ...... ying the classical form of EDS
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COL5A1 haploinsufficiency is a ...... ying the classical form of EDS
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P2093
P2860
P356
P1476
COL5A1 haploinsufficiency is a ...... ying the classical form of EDS
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P2093
Steinmann B
Wenstrup RJ
Willing MC
P2860
P304
P356
10.1086/302930
P407
P577
2000-04-24T00:00:00Z