Literature DB >> 6492090

The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta.

A C Nicholls, G Osse, H G Schloon, H G Lenard, S Deak, J C Myers, D J Prockop, W R Weigel, P Fryer, F M Pope.   

Abstract

The detailed clinical features and progress of a child with homozygous alpha 2(I) collagen deficiency are described. Clinically, the disease presents as severe progressive Sillence type III osteogenesis imperfecta. The main biochemical defect is the synthesis of an abnormal pro alpha 2(I) chain which does not associate with pro alpha 1(I) chains and therefore is not incorporated into triple helical trimers of type I procollagen which can be used to assemble collagen fibres.

Entities:  

Mesh：

Substances：

Year:  1984        PMID： 6492090      PMCID： PMC1049293          DOI： 10.1136/jmg.21.4.257

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  10 in total

1.  Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta.

Authors:  M L Chu; C J Williams; G Pepe; J L Hirsch; D J Prockop; F Ramirez
Journal:  Nature       Date:  1983 Jul 7-13       Impact factor: 49.962

2.  Assignment of the human pro alpha 2(I) collagen structural gene (COLIA2) to chromosome 7 by molecular hybridization.

Authors:  C Junien; D Weil; J C Myers; N Van Cong; M L Chu; C Foubert; M S Gross; D J Prockop; J C Kaplan; F Ramirez
Journal:  Am J Hum Genet       Date:  1982-05       Impact factor: 11.025

3.  Assignment of a type I collagen structural gene to human chromosome 7.

Authors:  B Sykes; E Solomon
Journal:  Nature       Date:  1978-04-06       Impact factor: 49.962

4.  Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen.

Authors:  G S Barsh; K E David; P H Byers
Journal:  Proc Natl Acad Sci U S A       Date:  1982-06       Impact factor: 11.205

5.  Osteogenesis imperfecta congenita: evidence for a generalized molecular disorder of collagen.

Authors:  R L Trelstad; D Rubin; J Gross
Journal:  Lab Invest       Date:  1977-05       Impact factor: 5.662

6.  Genetic heterogeneity in osteogenesis imperfecta.

Authors:  D O Sillence; A Senn; D M Danks
Journal:  J Med Genet       Date:  1979-04       Impact factor: 6.318

7.  Human type I procollagen genes are located on different chromosomes.

Authors:  C Huerre; C Junien; D Weil; M L Chu; M Morabito; N Van Cong; J C Myers; C Foubert; M S Gross; D J Prockop; A Boué; J C Kaplan; A de la Chapelle; F Ramirez
Journal:  Proc Natl Acad Sci U S A       Date:  1982-11       Impact factor: 11.205

8.  Thermal stability of type I and type III procollagens from normal human fibroblasts and from a patient with osteogenesis imperfecta.

Authors:  L Peltonen; A Palotie; T Hayashi; D J Prockop
Journal:  Proc Natl Acad Sci U S A       Date:  1980-01       Impact factor: 11.205

9.  Transient hypoxaemia during sleep in chronic bronchitis and emphysema.

Authors:  N J Douglas; P M Calverley; R J Leggett; H M Brash; D C Flenley; V Brezinova
Journal:  Lancet       Date:  1979-01-06       Impact factor: 79.321

10.  Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.

Authors:  G S Barsh; P H Byers
Journal:  Proc Natl Acad Sci U S A       Date:  1981-08       Impact factor: 11.205
  10 in total
  36 in total

1.  The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro alpha 1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues.

Authors:  W G Cole; P E Campbell; J G Rogers; J F Bateman
Journal:  J Med Genet       Date:  1990-09       Impact factor: 6.318

2.  Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.

Authors:  C J Pruchno; D H Cohn; G A Wallis; M C Willing; B J Starman; X M Zhang; P H Byers
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

Review 3.  Osteogenesis imperfecta: translation of mutation to phenotype.

Authors:  P H Byers; G A Wallis; M C Willing
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

4.  Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

Authors:  F Malfait; S Symoens; P Coucke; L Nunes; S De Almeida; A De Paepe
Journal:  J Med Genet       Date:  2006-07       Impact factor: 6.318

5.  The Human Collagen Mutation Database 1998.

Authors:  R Dalgleish
Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971

6.  The phenotypic features of osteogenesis imperfecta resulting from a mutation of the carboxyl-terminal pro alpha 1 (I) propeptide that impairs the assembly of type I procollagen and formation of the extracellular matrix.

Authors:  W G Cole; C W Chow; J F Bateman; D O Sillence
Journal:  J Med Genet       Date:  1996-11       Impact factor: 6.318

Review 7.  New perspectives on osteogenesis imperfecta.

Authors:  Antonella Forlino; Wayne A Cabral; Aileen M Barnes; Joan C Marini
Journal:  Nat Rev Endocrinol       Date:  2011-06-14       Impact factor: 43.330

Review 8.  Perinatal lethal osteogenesis imperfecta.

Authors:  W G Cole; R Dalgleish
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

9.  Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.

Authors:  E M Thompson; I D Young; C M Hall; M E Pembrey
Journal:  J Med Genet       Date:  1987-07       Impact factor: 6.318

10.  Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.

Authors:  G A Wallis; B Sykes; P H Byers; C G Mathew; D Viljoen; P Beighton
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.