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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
Download Full-text
Related Documents
Cited By
References
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
Download Full-text
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
Download Full-text
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
Download Full-text
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
Download Full-text
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
Download Full-text
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
Download Full-text
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
Download Full-text
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
Download Full-text
Further evidence that the failure to cleave the aminopropeptide of type I procollagen is the cause of Ehlers-Danlos syndrome type VII
Human Mutation
◽
10.1002/humu.1380030406
◽
1994
◽
Vol 3
(4)
◽
pp. 358-364
◽
Cited By ~ 14
Author(s):
Ken K. Y. Ho
◽
Richard Y. C. Kong
◽
Tamara Kuffner
◽
Louis H. S. Hsu
◽
Lily Ma
◽
...
Keyword(s):
Type I
◽
Syndrome Type
◽
Ehlers Danlos Syndrome
◽
Type I Procollagen
◽
Danlos Syndrome
Download Full-text
Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII.
Journal of Biological Chemistry
◽
10.1016/s0021-9258(19)57243-x
◽
1986
◽
Vol 261
(12)
◽
pp. 5496-5503
Author(s):
W G Cole
◽
D Chan
◽
G W Chambers
◽
I D Walker
◽
J F Bateman
Keyword(s):
Amino Acids
◽
Type I
◽
Syndrome Type
◽
Ehlers Danlos Syndrome
◽
Type I Procollagen
◽
Danlos Syndrome
Download Full-text
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