Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-α1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I

Kazuhiko Takahara; Ulrike Schwarze; Yasutada Imamura; Guy G. Hoffman; Helga Toriello; Lynne T. Smith; Peter H. Byers; Daniel S. Greenspan

doi:10.1086/342099

Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-α1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I

The American Journal of Human Genetics ◽

10.1086/342099 ◽

2002 ◽

Vol 71 (3) ◽

pp. 451-465 ◽

Cited By ~ 58

Author(s):

Kazuhiko Takahara ◽

Ulrike Schwarze ◽

Yasutada Imamura ◽

Guy G. Hoffman ◽

Helga Toriello ◽

...

Keyword(s):

Acceptor Site ◽

Type I ◽

Syndrome Type ◽

Site Mutation ◽

Ehlers Danlos Syndrome ◽

Exon Skip ◽

Intron Removal ◽

Danlos Syndrome

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Ehlers Danlos syndrome type VIIB. Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that are near circular in cross-section.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(19)50393-3 ◽

1992 ◽

Vol 267 (13) ◽

pp. 9093-9100

Author(s):

R.B. Watson ◽

G.A. Wallis ◽

D.F. Holmes ◽

D Viljoen ◽

P.H. Byers ◽

...

Keyword(s):

Cross Section ◽

Type I ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Type I Procollagen ◽

Danlos Syndrome ◽

Incomplete Cleavage

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

Human Molecular Genetics ◽

10.1093/hmg/7.2.249 ◽

1998 ◽

Vol 7 (2) ◽

pp. 249-255 ◽

Cited By ~ 86

Author(s):

K Michalickova

Keyword(s):

Type I ◽

Syndrome Type ◽

Matrix Assembly ◽

Ehlers Danlos Syndrome ◽

Type V Collagen ◽

Type V ◽

Danlos Syndrome

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The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.

Journal of Medical Genetics ◽

10.1136/jmg.31.4.306 ◽

1994 ◽

Vol 31 (4) ◽

pp. 306-311 ◽

Cited By ~ 22

Author(s):

A J Carr ◽

A A Chiodo ◽

J M Hilton ◽

C W Chow ◽

A Hockey ◽

...

Keyword(s):

Clinical Features ◽

Splice Acceptor Site ◽

Base Substitution ◽

Acceptor Site ◽

Syndrome Type ◽

Splice Acceptor ◽

Ehlers Danlos Syndrome ◽

Col1a2 Gene ◽

Danlos Syndrome

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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)

Human Molecular Genetics ◽

10.1093/hmg/5.11.1733 ◽

1996 ◽

Vol 5 (11) ◽

pp. 1733-1736 ◽

Cited By ~ 76

Author(s):

R. Wenstrup

Keyword(s):

Splice Junction ◽

Type I ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Danlos Syndrome

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Ehlers-Danlos syndrome type VIIB. Morphology of type I collagen fibrils formed in vivo and in vitro is determined by the conformation of the retained N-propeptide

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)82320-1 ◽

1993 ◽

Vol 268 (21) ◽

pp. 15758-15765

Author(s):

D.F. Holmes ◽

R.B. Watson ◽

B. Steinmann ◽

K.E. Kadler

Keyword(s):

Type I Collagen ◽

Collagen Fibrils ◽

Type I ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Danlos Syndrome

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The Gene Encoding Collagen α1(V) (COL5A1) Is Linked to Mixed Ehlers-Danlos Syndrome Type I/II

Journal of Investigative Dermatology ◽

10.1111/1523-1747.ep12348978 ◽

1996 ◽

Vol 106 (6) ◽

pp. 1273-1276 ◽

Cited By ~ 44

Author(s):

Nigel P. Burrows ◽

Alan C. Nicholls ◽

John R.W. Yates ◽

Graham Gatward ◽

Padmini Sarathachandra ◽

...

Keyword(s):

Type I ◽

Syndrome Type ◽

Gene Encoding ◽

Ehlers Danlos Syndrome ◽

Danlos Syndrome

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Morphometric Study of Cauliflower Collagen Fibrils in Ehlers-Danlos Syndrome Type I

Collagen and Related Research ◽

10.1016/s0174-173x(88)80019-0 ◽

1988 ◽

Vol 8 (5) ◽

pp. 453-457 ◽

Cited By ~ 18

Author(s):

Gérald E. Piérard ◽

Trinh L ◽

Claudine Piérard-Franchimont ◽

Charles M. Lapiére

Keyword(s):

Collagen Fibrils ◽

Morphometric Study ◽

Type I ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Danlos Syndrome

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Ehlers-Danlos syndrome type I: a clinical and ultrastructural study of a family with reduced amounts of collagen type III

British Journal of Dermatology ◽

10.1111/j.1365-2133.1987.tb04096.x ◽

1987 ◽

Vol 117 (1) ◽

pp. 89-97 ◽

Cited By ~ 19

Author(s):

A. PAEPE ◽

A. NICHOLLS ◽

P. NARCISI ◽

F.DE KEYSER ◽

J. QUATACKER ◽

...

Keyword(s):

Ultrastructural Study ◽

Collagen Type ◽

Type I ◽

Syndrome Type ◽

Collagen Type Iii ◽

Ehlers Danlos Syndrome ◽

Type Iii ◽

Danlos Syndrome

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Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen ?2(I) chain

Human Genetics ◽

10.1007/bf00204180 ◽

1991 ◽

Vol 87 (2) ◽

pp. 193-198 ◽

Cited By ~ 29

Author(s):

A. C. Nicholls ◽

J. Oliver ◽

D. V. Renouf ◽

J. McPheat ◽

A. Palan ◽

...

Keyword(s):

Type I Collagen ◽

Exon Skipping ◽

Base Change ◽

Type I ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Single Base ◽

Single Base Change ◽

Danlos Syndrome

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A Splice-Site Mutation that Induces Exon Skipping and Reduction in Lysyl Hydroxylase mRNA Levels but Does Not Create a Nonsense Codon in Ehlers-Danlos Syndrome Type VI

DNA and Cell Biology ◽

10.1089/dna.1998.17.117 ◽

1998 ◽

Vol 17 (2) ◽

pp. 117-123 ◽

Cited By ~ 13

Author(s):

L. PAJUNEN ◽

M. SUOKAS ◽

T. HAUTALA ◽

S. KELLOKUMPU ◽

B. TEBBE ◽

...

Keyword(s):

Splice Site ◽

Exon Skipping ◽

Splice Site Mutation ◽

Mrna Levels ◽

Syndrome Type ◽

Site Mutation ◽

Ehlers Danlos Syndrome ◽

Lysyl Hydroxylase ◽

Nonsense Codon ◽

Danlos Syndrome

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