Literature DB >> 3063158

Osteogenesis imperfecta: the molecular basis of clinical heterogeneity.

P H Byers1, J F Bonadio, D H Cohn, B J Starman, R J Wenstrup, M C Willing.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1988        PMID： 3063158     DOI： 10.1111/j.1749-6632.1988.tb55324.x

Source DB:  PubMed          Journal:  Ann N Y Acad Sci        ISSN： 0077-8923            Impact factor:   5.691


× No keyword cloud information.
  9 in total

1.  A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR.

Authors:  J P Zhuang; C D Constantinou; A Ganguly; D J Prockop
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

2.  Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.

Authors:  G A Wallis; B J Starman; A B Zinn; P H Byers
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025

3.  Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1).

Authors:  C D Constantinou; M Pack; S B Young; D J Prockop
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025

4.  Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

Authors:  N N Ahmad; L Ala-Kokko; R G Knowlton; S A Jimenez; E J Weaver; J I Maguire; W Tasman; D J Prockop
Journal:  Proc Natl Acad Sci U S A       Date:  1991-08-01       Impact factor: 11.205

Review 5.  Tooth dentin defects reflect genetic disorders affecting bone mineralization.

Authors:  S Opsahl Vital; C Gaucher; C Bardet; P S Rowe; A George; A Linglart; C Chaussain
Journal:  Bone       Date:  2012-01-26       Impact factor: 4.398

6.  Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta.

Authors:  S D Chipman; H O Sweet; D J McBride; M T Davisson; S C Marks; A R Shuldiner; R J Wenstrup; D W Rowe; J R Shapiro
Journal:  Proc Natl Acad Sci U S A       Date:  1993-03-01       Impact factor: 11.205

7.  An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen.

Authors:  J R Shapiro; M L Stover; V E Burn; M B McKinstry; A L Burshell; S D Chipman; D W Rowe
Journal:  J Clin Invest       Date:  1992-02       Impact factor: 14.808

8.  Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

Authors:  L Ala-Kokko; C T Baldwin; R W Moskowitz; D J Prockop
Journal:  Proc Natl Acad Sci U S A       Date:  1990-09       Impact factor: 11.205

9.  Osteogenesis Imperfecta: A Review with Clinical Examples.

Authors:  F S van Dijk; J M Cobben; A Kariminejad; A Maugeri; P G J Nikkels; R R van Rijn; G Pals
Journal:  Mol Syndromol       Date:  2011-10-12
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.