Literature DB >> 2203776

Mutations that alter the primary structure of type I collagen. The perils of a system for generating large structures by the principle of nucleated growth.

D J Prockop1.   

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Year:  1990        PMID： 2203776

Source DB:  PubMed          Journal:  J Biol Chem        ISSN： 0021-9258            Impact factor:   5.157


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  42 in total

1.  Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.

Authors:  M Ryynänen; J Ryynänen; S Sollberg; R V Iozzo; R G Knowlton; J Uitto
Journal:  J Clin Invest       Date:  1992-03       Impact factor: 14.808

2.  A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta.

Authors:  J Bonaventure; L Cohen-Solal; C Lasselin; P Maroteaux
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

3.  Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys.

Authors:  L Heidet; Y Cai; L Guicharnaud; C Antignac; M C Gubler
Journal:  Am J Pathol       Date:  2000-06       Impact factor: 4.307

4.  New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.

Authors:  Te-Cheng Pan; Rui-Zhu Zhang; Dominick G Sudano; Suely K Marie; Carsten G Bönnemann; Mon-Li Chu
Journal:  Am J Hum Genet       Date:  2003-07-01       Impact factor: 11.025

5.  A missense mutation in the cholesteryl ester transfer protein gene with possible dominant effects on plasma high density lipoproteins.

Authors:  K Takahashi; X C Jiang; N Sakai; S Yamashita; K Hirano; H Bujo; H Yamazaki; J Kusunoki; T Miura; P Kussie
Journal:  J Clin Invest       Date:  1993-10       Impact factor: 14.808

6.  Molecular genetics of steroid 5 alpha-reductase 2 deficiency.

Authors:  A E Thigpen; D L Davis; A Milatovich; B B Mendonca; J Imperato-McGinley; J E Griffin; U Francke; J D Wilson; D W Russell
Journal:  J Clin Invest       Date:  1992-09       Impact factor: 14.808

7.  A morphological and ultrastructural study of bone in osteogenesis imperfecta.

Authors:  J P Cassella; T C Stamp; S Y Ali
Journal:  Calcif Tissue Int       Date:  1996-03       Impact factor: 4.333

8.  Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia.

Authors:  P Vandenberg; J S Khillan; D J Prockop; H Helminen; S Kontusaari; L Ala-Kokko
Journal:  Proc Natl Acad Sci U S A       Date:  1991-09-01       Impact factor: 11.205

9.  Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution.

Authors:  B Steinmann; A Westerhausen; C D Constantinou; A Superti-Furga; D J Prockop
Journal:  Biochem J       Date:  1991-11-01       Impact factor: 3.857

10.  Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha 1(IX) collagen chains with a central deletion.

Authors:  K Nakata; K Ono; J Miyazaki; B R Olsen; Y Muragaki; E Adachi; K Yamamura; T Kimura
Journal:  Proc Natl Acad Sci U S A       Date:  1993-04-01       Impact factor: 11.205
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