Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome.
about
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDSOrder 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 IMice that lack thrombospondin 2 display connective tissue abnormalities that are associated with disordered collagen fibrillogenesis, an increased vascular density, and a bleeding diathesisRegulation of collagen fibril nucleation and initial fibril assembly involves coordinate interactions with collagens V and XI in developing tendonRare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossNull alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiencyPhenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineationCollagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model.Changes in collagen fibril morphology in experimental aneurysms and arteriovenous fistulae in sheep.Marfan syndrome: abnormal alpha 2 chain in type I collagen.Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13A validated software application to measure fiber organization in soft tissue.Effect of targeted mutation in collagen V alpha 2 gene on development of cutaneous hyperplasia in tight skin mice.Using transmission electron microscopy and 3View to determine collagen fibril size and three-dimensional organization.The liver in siblings of patients with Indian childhood cirrhosis: a light and electron microscopic study.COL5A1 gene variants previously associated with reduced soft tissue injury risk are associated with elite athlete status in rugby.Molecular abnormalities of collagen: a review.Identification of a de novo case of -related Ehlers-Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care
P2860
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P2860
Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome.
description
1979 nî lūn-bûn
@nan
1979年の論文
@ja
1979年論文
@yue
1979年論文
@zh-hant
1979年論文
@zh-hk
1979年論文
@zh-mo
1979年論文
@zh-tw
1979年论文
@wuu
1979年论文
@zh
1979年论文
@zh-cn
name
Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome.
@en
type
label
Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome.
@en
prefLabel
Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome.
@en
P2093
P1476
Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome.
@en
P2093
Gitzelmann R
Holbrook KA
Steinmann B
P304
P577
1979-02-01T00:00:00Z