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Literature DB >> 8398803

Learning how mutations in type I collagen genes cause connective tissue disease.

K E Kadler¹.

Abstract

Mesh：

Substances：
Procollagen
Collagen

Year: 1993 PMID： 8398803 PMCID： PMC2001856

Source DB: PubMed Journal: Int J Exp Pathol ISSN： 0959-9673 Impact factor: 1.925

× No keyword cloud information.

33 in total

1. Collagen fibrils in vitro grow from pointed tips in the C- to N-terminal direction.

Authors: K E Kadler; Y Hojima; D J Prockop
Journal: Biochem J Date: 1990-06-01 Impact factor: 3.857

2. In vivo and in vitro noncovalent association of excised alpha 1 (I) amino-terminal propeptides with mutant pN alpha 2(I) collagen chains in native mutant collagen in a case of Ehlers-Danlos syndrome, type VII.

Authors: M K Wirtz; D R Keene; H Hori; R W Glanville; B Steinmann; V H Rao; D W Hollister
Journal: J Biol Chem Date: 1990-04-15 Impact factor: 5.157

3. Type I procollagen N-proteinase from chick embryo tendons. Purification of a new 500-kDa form of the enzyme and identification of the catalytically active polypeptides.

Authors: Y Hojima; J A McKenzie; M van der Rest; D J Prockop
Journal: J Biol Chem Date: 1989-07-05 Impact factor: 5.157

4. The regulation of size and form in the assembly of collagen fibrils in vivo.

Authors: J A Chapman
Journal: Biopolymers Date: 1989-08 Impact factor: 2.505

5. Collagen fibrillogenesis in situ: fibril segments are intermediates in matrix assembly.

Authors: D E Birk; E I Zycband; D A Winkelmann; R L Trelstad
Journal: Proc Natl Acad Sci U S A Date: 1989-06 Impact factor: 11.205

6. Assembly of type I collagen fibrils de novo. Between 37 and 41 degrees C the process is limited by micro-unfolding of monomers.

Authors: K E Kadler; Y Hojima; D J Prockop
Journal: J Biol Chem Date: 1988-07-25 Impact factor: 5.157

7. A substitution of cysteine for glycine 748 of the alpha 1 chain produces a kink at this site in the procollagen I molecule and an altered N-proteinase cleavage site over 225 nm away.

Authors: B E Vogel; R Doelz; K E Kadler; Y Hojima; J Engel; D J Prockop
Journal: J Biol Chem Date: 1988-12-15 Impact factor: 5.157

8. Pleomorphism in type I collagen fibrils produced by persistence of the procollagen N-propeptide.

Authors: D J Hulmes; K E Kadler; A P Mould; Y Hojima; D F Holmes; C Cummings; J A Chapman; D J Prockop
Journal: J Mol Biol Date: 1989-11-20 Impact factor: 5.469

9. Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII.

Authors: D Weil; M D'Alessio; F Ramirez; B Steinmann; M K Wirtz; R W Glanville; D W Hollister
Journal: J Biol Chem Date: 1989-10-05 Impact factor: 5.157

10. A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII.

Authors: D Weil; M D'Alessio; F Ramirez; W de Wet; W G Cole; D Chan; J F Bateman
Journal: EMBO J Date: 1989-06 Impact factor: 11.598

5 in total

Learning how mutations in type I collagen genes cause connective tissue disease.

1. Collagen fibrils in vitro grow from pointed tips in the C- to N-terminal direction.

2. In vivo and in vitro noncovalent association of excised alpha 1 (I) amino-terminal propeptides with mutant pN alpha 2(I) collagen chains in native mutant collagen in a case of Ehlers-Danlos syndrome, type VII.

3. Type I procollagen N-proteinase from chick embryo tendons. Purification of a new 500-kDa form of the enzyme and identification of the catalytically active polypeptides.

4. The regulation of size and form in the assembly of collagen fibrils in vivo.

5. Collagen fibrillogenesis in situ: fibril segments are intermediates in matrix assembly.

6. Assembly of type I collagen fibrils de novo. Between 37 and 41 degrees C the process is limited by micro-unfolding of monomers.

7. A substitution of cysteine for glycine 748 of the alpha 1 chain produces a kink at this site in the procollagen I molecule and an altered N-proteinase cleavage site over 225 nm away.

8. Pleomorphism in type I collagen fibrils produced by persistence of the procollagen N-propeptide.

9. Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII.

10. A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII.

1. A quantitative evaluation of SAGE.

2. A role for prolyl 3-hydroxylase 2 in post-translational modification of fibril-forming collagens.

3. Observation of collagen fibrils produced by osteosarcoma cells using atomic force microscopy.

4. pH-responsive collagen fibrillogenesis in confined droplets induced by vapour diffusion.

5. Targeted disruption of decorin leads to abnormal collagen fibril morphology and skin fragility.