Literature DB >> 1055406

Patients with Ehlers-Danlos syndrome type IV lack type III collagen.

F M Pope, G R Martin, J R Lichtenstein, R Penttinen, B Gerson, D W Rowe, V A McKusick.   

Abstract

One of the genetically distinct collagens (type III) normally found in skin, aorta, and intestine is missing from the tissues of patients with the Ehlers-Danlos syndrome type IV. While skin fibroblasts from other individuals synthesize both types I and III collagen. Ehlers-Danlos syndrome IV cells synthesize only type I. These results suggest that the fragile skin, blood vessels, and intestines of Ehlers-Danlos syndrome IV patients result from an absence of type III collagen.

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Year:  1975        PMID： 1055406      PMCID： PMC432523          DOI： 10.1073/pnas.72.4.1314

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


  14 in total

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Authors:  E Chung; E M Keele; E J Miller
Journal:  Biochemistry       Date:  1974-08-13       Impact factor: 3.162

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Journal:  J Biol Chem       Date:  1974-05-25       Impact factor: 5.157

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Authors:  R L Trelstad
Journal:  Biochem Biophys Res Commun       Date:  1974-04-08       Impact factor: 3.575

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Journal:  Nat New Biol       Date:  1973-08-08

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6.  Production of procollagen by human fibroblasts in culture.

Authors:  B D Smith; P H Byers; G R Martin
Journal:  Proc Natl Acad Sci U S A       Date:  1972-11       Impact factor: 11.205

7.  Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.

Authors:  J R Lichtenstein; G R Martin; L D Kohn; P H Byers; V A McKusick
Journal:  Science       Date:  1973-10-19       Impact factor: 47.728

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Journal:  Science       Date:  1974-03       Impact factor: 47.728

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Authors:  S R Pinnell; S M Krane; J E Kenzora; M J Glimcher
Journal:  N Engl J Med       Date:  1972-05-11       Impact factor: 91.245

10.  Hydroxylysine-deficient skin collagen in a patient with a form of the Ehlers-Danlos syndrome.

Authors:  M Sussman; J R Lichtenstein; T P Nigra; G R Martin; V A McKusick
Journal:  J Bone Joint Surg Am       Date:  1974-09       Impact factor: 5.284
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  100 in total

Review 1.  Molecular abnormalities of collagen.

Authors:  F M Pope; A C Nicholls
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1978

2.  A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.

Authors:  A J Richards; J C Lloyd; P Narcisi; P N Ward; A C Nicholls; A De Paepe; F M Pope
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

3.  Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.

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Authors:  H Shinkai; O Hirabayashi; A Tamaki; S Matsubayashi; S Sano
Journal:  Arch Dermatol Res       Date:  1976-12-15       Impact factor: 3.017

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Authors:  E J Miller
Journal:  Mol Cell Biochem       Date:  1976-12-10       Impact factor: 3.396

6.  Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.

Authors:  Janine Meienberg; Marianne Rohrbach; Stefan Neuenschwander; Katharina Spanaus; Cecilia Giunta; Sira Alonso; Eliane Arnold; Caroline Henggeler; Stephan Regenass; Andrea Patrignani; Silvia Azzarello-Burri; Bernhard Steiner; Anders O H Nygren; Thierry Carrel; Beat Steinmann; Gábor Mátyás
Journal:  Eur J Hum Genet       Date:  2010-07-21       Impact factor: 4.246

7.  Abnormal mechanosensing and cofilin activation promote the progression of ascending aortic aneurysms in mice.

Authors:  Yoshito Yamashiro; Christina L Papke; Jungsil Kim; Lea-Jeanne Ringuette; Qing-Jun Zhang; Zhi-Ping Liu; Hamid Mirzaei; Jessica E Wagenseil; Elaine C Davis; Hiromi Yanagisawa
Journal:  Sci Signal       Date:  2015-10-20       Impact factor: 8.192

8.  [The phenomenology and morphology of spontaneous fatal cerebral aneurysmal hemorrhages].

Authors:  H Bratzke; K Püschel; H J Colmant
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Review 9.  [Imaging of aortic disease].

Authors:  P Reimer; R Vosshenrich; P Landwehr; M Storck
Journal:  Radiologe       Date:  2007-05       Impact factor: 0.635

10.  Fibulin-4 deficiency results in ascending aortic aneurysms: a potential link between abnormal smooth muscle cell phenotype and aneurysm progression.

Authors:  Jianbin Huang; Elaine C Davis; Shelby L Chapman; Madhusudhan Budatha; Lihua Y Marmorstein; R Ann Word; Hiromi Yanagisawa
Journal:  Circ Res       Date:  2009-12-17       Impact factor: 17.367
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