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 ◽

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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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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Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen

American Journal of Medical Genetics ◽

10.1002/(sici)1096-8628(19971003)72:1<94::aid-ajmg20>3.0.co;2-o ◽

1997 ◽

Vol 72 (1) ◽

pp. 94-105 ◽

Author(s):

Peter H. Byers ◽

Madeleine Duvic ◽

Mary Atkinson ◽

Meinhard Robinow ◽

Lynne T. Smith ◽

...

Keyword(s):

Type I Collagen ◽

Splice Junction ◽

Type I ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Genomic Deletions ◽

Danlos Syndrome

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Ehlers-Danlos Syndrome Type IV: A Single Base Substitution of the Last Nucleotide of Exon 34 in COL3A1 Leads to Exon Skipping

Journal of Investigative Dermatology ◽

10.1111/1523-1747.ep12320704 ◽

1995 ◽

Vol 105 (3) ◽

pp. 352-356 ◽

Author(s):

Helena Kuivaniemi ◽

Gerard Tromp ◽

Wilma F. Bergfeld ◽

Marsha Kay ◽

Thomas N. Helm

Keyword(s):

Exon Skipping ◽

Single Base Substitution ◽

Base Substitution ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Single Base ◽

Type Iv ◽

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 ◽

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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A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation

Human Genetics ◽

10.1007/bf00194313 ◽

1992 ◽

Vol 89 (4) ◽

Author(s):

A.J. Richards ◽

P.N. Ward ◽

P. Narcisi ◽

A.C. Nicholls ◽

J.C. Lloyd ◽

...

Keyword(s):

Glutamic Acid ◽

Family Member ◽

Type Iii Collagen ◽

Syndrome Type ◽

Unaffected Family Member ◽

Ehlers Danlos Syndrome ◽

Single Base ◽

Type Iii ◽

Type Iv ◽

Danlos Syndrome

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Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV

American Journal of Medical Genetics ◽

10.1002/ajmg.1320460308 ◽

1993 ◽

Vol 46 (3) ◽

pp. 278-283 ◽

Author(s):

Paolo Narcisi ◽

Yuli Wu ◽

Gerard Tromp ◽

James J Earley ◽

Allan J. Richards ◽

...

Keyword(s):

Glutamic Acid ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Single Base ◽

Type Iv ◽

Col3a1 Gene ◽

Danlos Syndrome

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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 ◽

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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Transcriptional Activation of Type I Collagen Genes by Ascorbic Acid 2-Phosphate in Human Skin Fibroblasts and Its Failure in Cells from a Patient with α2(I)-Chain-Defective Ehlers-Danlos Syndrome

Experimental Cell Research ◽

10.1006/excr.1993.1121 ◽

1993 ◽

Vol 206 (1) ◽

pp. 63-71 ◽

Author(s):

Shun-Ichi Kurata ◽

Haruki Senoo ◽

Ryu-Ichiro Hata

Keyword(s):

Ascorbic Acid ◽

Transcriptional Activation ◽

Type I Collagen ◽

Skin Fibroblasts ◽

Type I ◽

Human Skin Fibroblasts ◽

Ehlers Danlos Syndrome ◽

Collagen Genes ◽

Danlos Syndrome

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

Journal of Medical Genetics ◽

10.1136/jmg.35.10.846 ◽

1998 ◽

Vol 35 (10) ◽

pp. 846-848 ◽

Author(s):

A J Richards ◽

S Martin ◽

A C Nicholls ◽

J B Harrison ◽

F M Pope ◽

...

Keyword(s):

Syndrome Type ◽

Type Ii ◽

Ehlers Danlos Syndrome ◽

Single Base ◽

Danlos Syndrome

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