Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome (Q24337270)

Collagen type V alpha 1 chain

GOA release 2020-03-11

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collagen biosynthetic process

GOA release 2020-03-11

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GOA release 2020-03-11

author name string

Richard J Wenstrup

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Jane B Florer

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William G Cole

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Marcia C Willing

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David E Birk

Journal of Cellular Biochemistry

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language of work or name

English

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publication date

1 May 2004

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published in

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volume

92

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issue

1

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page(s)

113-24

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cites work

Collagen fibril formation

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Collagen types I, III, and V in human embryonic and fetal skin

21 January 2018

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7 January 2021

Collagen fibrillogenesis in situ: fibril segments become long fibrils as the developing tendon matures

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7 January 2021

Complete structural organization of the human alpha 1 (V) collagen gene (COL5A1): divergence from the conserved organization of other characterized fibrillar collagen genes.

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7 January 2021

Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family

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7 January 2021

Determination of 3- and 4-hydroxyproline

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7 January 2021

Structural analysis of the extension peptides on matrix forms of type V collagen in fetal calf bone and skin

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7 January 2021

The evolution of fibrillar collagens: a sea-pen collagen shares common features with vertebrate type V collagen

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7 January 2021

Tracing the evolution of vertebrate fibrillar collagens from an ancestral alpha chain

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7 January 2021

Another look at collagen V and XI molecules.

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7 January 2021

Isolation and characterization of a distinct type of collagen from bovine fetal membranes and other tissues

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7 January 2021

Use of a mixture of proteinase-free collagenases for the specific assay of radioactive collagen in the presence of other proteins

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7 January 2021

A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.

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7 January 2021

Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition

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7 January 2021

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency

1 reference

7 January 2021

Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen

1 reference

7 January 2021

Fibromodulin-null mice have abnormal collagen fibrils, tissue organization, and altered lumican deposition in tendon

1 reference

7 January 2021

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 II

1 reference

7 January 2021

A syndrome of joint laxity and impaired tendon integrity in lumican- and fibromodulin-deficient mice

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7 January 2021

Collagen type I and type V are present in the same fibril in the avian corneal stroma

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7 January 2021

Type V collagen: molecular structure and fibrillar organization of the chicken alpha 1(V) NH2-terminal domain, a putative regulator of corneal fibrillogenesis

1 reference

7 January 2021

Reduction of type V collagen using a dominant-negative strategy alters the regulation of fibrillogenesis and results in the loss of corneal-specific fibril morphology

1 reference

7 January 2021

Targeted disruption of decorin leads to abnormal collagen fibril morphology and skin fragility

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7 January 2021

Lumican regulates collagen fibril assembly: skin fragility and corneal opacity in the absence of lumican

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7 January 2021

Extracellular compartments in matrix morphogenesis: collagen fibril, bundle, and lamellar formation by corneal fibroblasts

1 reference

7 January 2021

COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS

1 reference

7 January 2021

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).

1 reference

7 January 2021

Mice deficient in small leucine-rich proteoglycans: novel in vivo models for osteoporosis, osteoarthritis, Ehlers-Danlos syndrome, muscular dystrophy, and corneal diseases

1 reference

7 January 2021

A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I)

1 reference

7 January 2021

Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I

1 reference

7 January 2021

Segregation analysis of the structural genes of the major fibrillar collagens provides further evidence of molecular heterogeneity in type II Ehlers-Danlos syndrome

1 reference

7 January 2021

Abnormal collagen fibrils in tendons of biglycan/fibromodulin-deficient mice lead to gait impairment, ectopic ossification, and osteoarthritis

1 reference

7 January 2021

Collagen type distribution and macromolecular organization of connective tissue in different layers of human skin

1 reference

7 January 2021

The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II

1 reference

7 January 2021

Genetic linkage to the collagen alpha 1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypes

1 reference

7 January 2021

Structural characteristics of cross-linking sites in type V collagen of bone. Chain specificities and heterotypic links to type I collagen

1 reference

7 January 2021

Diversity in the processing events at the N-terminus of type-V collagen

1 reference

7 January 2021

An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome

1 reference

7 January 2021

A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II

1 reference

7 January 2021

Diminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta

1 reference

7 January 2021

Phenotypic effects of biglycan deficiency are linked to collagen fibril abnormalities, are synergized by decorin deficiency, and mimic Ehlers-Danlos-like changes in bone and other connective tissues.

1 reference

7 January 2021

In vitro formation of hybrid fibrils of type V collagen and type I collagen. Limited growth of type I collagen into thick fibrils by type V collagen

1 reference

7 January 2021