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 (Q24291045)

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English	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	scientific article

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scholarly article

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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 II (English)

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haploinsufficiency

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Ehlers-Danlos syndrome

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Collagen type V alpha 1 chain

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GOA release 2020-03-11

collagen biosynthetic process

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GOA release 2020-03-11

author name string

P Bouma

1

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W A Cabral

2

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W G Cole

3

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J C Marini

4

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language of work or name

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publication date

20 April 2001

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Journal of Biological Chemistry

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276

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16

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13356-64

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Identification of two new collagen alpha-chains in extracts of lathyritic chick embryo tendons

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

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

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Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly

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

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

1 reference

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A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families

1 reference

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

1 reference

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

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

1 reference

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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

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Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

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DNA sequencing with chain-terminating inhibitors

1 reference

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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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Construction of a recombinant bacterial plasmid containing a chick pro-alpha2 collagen gene sequence

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Deadenylation of the unstable mRNA encoded by the yeast MFA2 gene leads to decapping followed by 5'-->3' digestion of the transcript

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Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA.

1 reference

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International nosology of heritable disorders of connective tissue, Berlin, 1986

1 reference

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Bone type V collagen: chain composition and location of a trypsin cleavage site

1 reference

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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

https://api.crossref.org/works/10.1074%2FJBC.M011742200

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Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability

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Physicochemical characterization and molecular organization of the collagen A and B chains

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Formation of interchain disulfide bonds and helical structure during biosynthesis of procollagen by embryonic tendon cells

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Three new α-chains of collagen from a non-basement membrane source

1 reference

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mRNA destabilization triggered by premature translational termination depends on at least three cis-acting sequence elements and one trans-acting factor

1 reference

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21 January 2018

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10.1074/JBC.M011742200

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