A Single Base Mutation That Substitutes Serine for Glycine 790 of the α 1 (III) Chain of Type III Procollagen Exposes an Arginine and Causes Ehlers-Danlos Syndrome IV

G Tromp; H Kuivaniemi; H Shikata; D J Prockop

doi:10.1016/s0021-9258(18)94192-x

A Single Base Mutation That Substitutes Serine for Glycine 790 of the α 1 (III) Chain of Type III Procollagen Exposes an Arginine and Causes Ehlers-Danlos Syndrome IV

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)94192-x ◽

1989 ◽

Vol 264 (3) ◽

pp. 1349-1352

Author(s):

G Tromp ◽

H Kuivaniemi ◽

H Shikata ◽

D J Prockop

Keyword(s):

Ehlers Danlos Syndrome ◽

Single Base ◽

Type Iii ◽

Type Iii Procollagen ◽

Danlos Syndrome

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Three Single Base Mutations in Type III Procollagen Gene That Prevent Correct RNA Splicing in Variants of Ehlers-Danlos Syndrome IV

Annals of the New York Academy of Sciences ◽

10.1111/j.1749-6632.1990.tb17989.x ◽

1990 ◽

Vol 580 (1 Structure, Mo) ◽

pp. 554-555

Author(s):

MIJIN ZHAO ◽

SIRPA KONTUSAARI ◽

HELENA KUIVANIEMI ◽

GERARD TROMP ◽

CAROLYN SABOL ◽

...

Keyword(s):

Rna Splicing ◽

Ehlers Danlos Syndrome ◽

Single Base ◽

Type Iii ◽

Type Iii Procollagen ◽

Danlos Syndrome

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Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV

Journal of Biological Chemistry ◽

10.1016/s0021-9258(19)47303-1 ◽

1989 ◽

Vol 264 (32) ◽

pp. 19313-19317

Author(s):

G Tromp ◽

H Kuivaniemi ◽

C Stolle ◽

F M Pope ◽

D J Prockop

Keyword(s):

Ehlers Danlos Syndrome ◽

Single Base ◽

Type Iii ◽

Type Iii Procollagen ◽

Danlos Syndrome

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Single Base Mutation in the Type III Procollagen Gene That Converts the Codon for Glycine 883 to Aspartate in a Proband with Mild Symptoms of Ehlers-Danlos Syndrome IV

Annals of the New York Academy of Sciences ◽

10.1111/j.1749-6632.1990.tb17991.x ◽

1990 ◽

Vol 580 (1 Structure, Mo) ◽

pp. 558-559 ◽

Cited By ~ 1

Author(s):

GERARD TROMP ◽

HELENA KUIVANIEMI ◽

CATHERINE STOLLE ◽

F. MICHAEL POPE ◽

DARWIN J. PROCKOP

Keyword(s):

Ehlers Danlos Syndrome ◽

Single Base ◽

Type Iii ◽

Type Iii Procollagen ◽

Danlos Syndrome

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Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not others.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(19)38508-4 ◽

1990 ◽

Vol 265 (20) ◽

pp. 12067-12074 ◽

Cited By ~ 3

Author(s):

H Kuivaniemi ◽

S Kontusaari ◽

G Tromp ◽

M J Zhao ◽

C Sabol ◽

...

Keyword(s):

Rna Splicing ◽

Exon Skipping ◽

Ehlers Danlos Syndrome ◽

Type Iii ◽

Type Iii Procollagen ◽

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) ◽

Cited By ~ 22

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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Phenotypic Overlap between Familial Aneurysms and Ehlers-Danlos Syndrome Type IV Resulting from a Type III Procollagen Gene Mutation

Annals of the New York Academy of Sciences ◽

10.1111/j.1749-6632.1996.tb33336.x ◽

1996 ◽

Vol 800 (1 The Abdominal) ◽

pp. 294-298 ◽

Cited By ~ 1

Author(s):

DAVID W. ANDERSON ◽

SMITA THAKKER-VARIA ◽

CATHERINE A. STOLLE

Keyword(s):

Gene Mutation ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Type Iii ◽

Type Iv ◽

Type Iii Procollagen ◽

Danlos Syndrome ◽

Familial Aneurysms

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A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV

Human Mutation ◽

10.1002/(sici)1098-1004(1997)9:1<62::aid-humu11>3.0.co;2-n ◽

1997 ◽

Vol 9 (1) ◽

pp. 62-63 ◽

Cited By ~ 7

Author(s):

David W. Anderson ◽

Smita Thakker-Varia ◽

Gerard Tromp ◽

Helena Kuivaniemi ◽

Catherine A. Stolle

Keyword(s):

Thermal Stability ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Type Iii ◽

Type Iv ◽

Type Iii Procollagen ◽

Danlos Syndrome ◽

Thermal Stability Of

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Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: Correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the molecule

Biochemical and Biophysical Research Communications ◽

10.1016/0006-291x(88)90497-4 ◽

1988 ◽

Vol 150 (1) ◽

pp. 140-147 ◽

Cited By ~ 31

Author(s):

Andrea Superti-Furga ◽

Beat Steinmann

Keyword(s):

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Type Iii ◽

Type Iv ◽

Type Iii Procollagen ◽

Danlos Syndrome ◽

Reduced Temperature ◽

Helical Region

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Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV

Human Mutation ◽

10.1002/humu.1380050213 ◽

1995 ◽

Vol 5 (2) ◽

pp. 179-181 ◽

Cited By ~ 3

Author(s):

Gerard Tromp ◽

Anne De Paepe ◽

Lieve Nuytinck ◽

Swarna Madhatheri ◽

Helena Kuivaniemi

Keyword(s):

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Type Iii ◽

Type Iv ◽

Type Iii Procollagen ◽

Danlos Syndrome

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Inheritance of an RNA splicing mutation (G + 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV

Journal of Vascular Surgery ◽

10.1016/0741-5214(91)90398-e ◽

1991 ◽

Vol 13 (5) ◽

pp. 774

Author(s):

Joseph R. Durham

Keyword(s):

Rna Splicing ◽

Aortic Aneurysms ◽

Syndrome Type ◽

Splicing Mutation ◽

Ehlers Danlos Syndrome ◽

Type Iii ◽

Type Iv ◽

Type Iii Procollagen ◽

Arterial Aneurysms ◽

Danlos Syndrome

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