G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV.

B Lee; E Vitale; A Superti-Furga; B Steinmann; F Ramirez

doi:10.1016/s0021-9258(19)67780-x

G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(19)67780-x ◽

1991 ◽

Vol 266 (8) ◽

pp. 5256-5259 ◽

Cited By ~ 2

Author(s):

B Lee ◽

E Vitale ◽

A Superti-Furga ◽

B Steinmann ◽

F Ramirez

Keyword(s):

Donor Site ◽

Splice Donor Site ◽

Syndrome Type ◽

Splice Donor ◽

Ehlers Danlos Syndrome ◽

Type Iii ◽

Type Iv ◽

Type Iii Procollagen ◽

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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Ehlers-Danlos syndrome type IV: A subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen

American Journal of Medical Genetics ◽

10.1002/ajmg.1320340113 ◽

1989 ◽

Vol 34 (1) ◽

pp. 68-71 ◽

Cited By ~ 17

Author(s):

Beat Steinmann ◽

Andrea Superti-Furga ◽

Helen I. Joller-Jemelka ◽

Giuseppe Cetta ◽

Peter H. Byers

Keyword(s):

Serum Levels ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Type Iii ◽

Amino Terminal ◽

Type Iv ◽

Type Iii Procollagen ◽

Danlos Syndrome ◽

Low Serum

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Temperature sensitivity of aberrant RNA splicing with a mutation in theG+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV

Human Mutation ◽

10.1002/humu.1380020106 ◽

1993 ◽

Vol 2 (1) ◽

pp. 28-36 ◽

Cited By ~ 9

Author(s):

Yuli Wu ◽

Helena Kuivaniemi ◽

Gerard Tromp ◽

Deike Strobel ◽

Anne M. Romanic ◽

...

Keyword(s):

Temperature Sensitivity ◽

Rna Splicing ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Type Iii ◽

Type Iv ◽

Type Iii Procollagen ◽

Aberrant Rna ◽

Danlos Syndrome

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Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)68776-9 ◽

1988 ◽

Vol 263 (13) ◽

pp. 6226-6232

Author(s):

A Superti-Furga ◽

E Gugler ◽

R Gitzelmann ◽

B Steinmann

Keyword(s):

Structure Stability ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Type Iii ◽

Type Iv ◽

Type Iii Procollagen ◽

Danlos Syndrome ◽

Exon Deletion

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Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers–Danlos syndrome type IV

Human Molecular Genetics ◽

10.1093/hmg/3.3.511 ◽

1994 ◽

Vol 3 (3) ◽

pp. 511-512 ◽

Cited By ~ 2

Author(s):

Swama L. Madhatheri ◽

Gerard Tromp ◽

Karl-Henrik Gustavson ◽

Helena Kulvanlemi

Keyword(s):

Glutamic Acid ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Type Iii ◽

Helical Domain ◽

Type Iv ◽

Type Iii Procollagen ◽

Variable Phenotype ◽

Triple Helical Domain ◽

Danlos Syndrome

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Ehlers-Danlos Syndrome Type IV and a Novel Mutation of the Type III Procollagen Gene as a Cause of Abdominal Apoplexy

Mayo Clinic Proceedings ◽

10.4065/77.8.861 ◽

2002 ◽

Vol 77 (8) ◽

pp. 861-863 ◽

Cited By ~ 11

Author(s):

Imran Hassan ◽

Todd E. Rasmussen ◽

Ulrike Schwarze ◽

Peter S. Rose ◽

David A.H. Whiteman ◽

...

Keyword(s):

Novel Mutation ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Type Iii ◽

Type Iv ◽

Type Iii Procollagen ◽

Danlos Syndrome

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