Literature DB >> 3884665

Mutations in collagen genes. Consequences for rare and common diseases.

D J Prockop.   

Abstract

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Year:  1985        PMID： 3884665      PMCID： PMC423605          DOI： 10.1172/JCI111773

Source DB:  PubMed          Journal:  J Clin Invest        ISSN： 0021-9738            Impact factor:   14.808


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  23 in total

1.  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

2.  The collagen gene: evidence for its evolutinary assembly by amplification of a DNA segment containing an exon of 54 bp.

Authors:  Y Yamada; V E Avvedimento; M Mudryj; H Ohkubo; G Vogeli; M Irani; I Pastan; B de Crombrugghe
Journal:  Cell       Date:  1980-12       Impact factor: 41.582

Review 3.  Genetic disorders of collagen metabolism.

Authors:  D W Hollister; P H Byers; K A Holbrook
Journal:  Adv Hum Genet       Date:  1982

4.  The collagen alpha-2 chain gene.

Authors:  P Tolstoshev; R G Crystal
Journal:  J Invest Dermatol       Date:  1982-07       Impact factor: 8.551

5.  Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta.

Authors:  P H Byers; J R Shapiro; D W Rowe; K E David; K A Holbrook
Journal:  J Clin Invest       Date:  1983-03       Impact factor: 14.808

6.  Osteogenesis imperfecta: an expanding panorama of variants.

Authors:  D Sillence
Journal:  Clin Orthop Relat Res       Date:  1981-09       Impact factor: 4.176

7.  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

8.  A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose in the COOH-terminal propeptide.

Authors:  L Peltonen; A Palotie; D J Prockop
Journal:  Proc Natl Acad Sci U S A       Date:  1980-10       Impact factor: 11.205

9.  Synthesis and processing of a type I procollagen containing shortened pro-alpha 1(I) chains by fibroblasts from a patient with osteogenesis imperfecta.

Authors:  C J Williams; D J Prockop
Journal:  J Biol Chem       Date:  1983-05-10       Impact factor: 5.157

10.  Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.

Authors:  B Steinmann; L Tuderman; L Peltonen; G R Martin; V A McKusick; D J Prockop
Journal:  J Biol Chem       Date:  1980-09-25       Impact factor: 5.157
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  11 in total

1.  Osteogenesis imperfecta with bleeding diathesis.

Authors:  Rakesh K Mondal; Umang Mann; Mamta Sharma
Journal:  Indian J Pediatr       Date:  2003-01       Impact factor: 1.967

Review 2.  Molecular mechanisms of collagen gene expression.

Authors:  R Raghow; J P Thompson
Journal:  Mol Cell Biochem       Date:  1989-03-16       Impact factor: 3.396

Review 3.  The aetiology of osteoarthritis.

Authors:  C M Fergusson
Journal:  Postgrad Med J       Date:  1987-06       Impact factor: 2.401

4.  Generation of collagenase-resistant collagen by site-directed mutagenesis of murine pro alpha 1(I) collagen gene.

Authors:  H Wu; M H Byrne; A Stacey; M B Goldring; J R Birkhead; R Jaenisch; S M Krane
Journal:  Proc Natl Acad Sci U S A       Date:  1990-08       Impact factor: 11.205

5.  A secreted tyrosine kinase acts in the extracellular environment.

Authors:  Mattia R Bordoli; Jina Yum; Susanne B Breitkopf; Jonathan N Thon; Joseph E Italiano; Junyu Xiao; Carolyn Worby; Swee-Kee Wong; Grace Lin; Maja Edenius; Tracy L Keller; John M Asara; Jack E Dixon; Chang-Yeol Yeo; Malcolm Whitman
Journal:  Cell       Date:  2014-08-28       Impact factor: 41.582

6.  Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family.

Authors:  R Dalgleish; J R Hawkins; M Keston
Journal:  J Med Genet       Date:  1987-03       Impact factor: 6.318

7.  A COL2A1 gene polymorphism is related with advanced stages of osteoarthritis of the knee in Mexican Mestizo population.

Authors:  Arturo Gálvez-Rosas; Celia González-Huerta; Verónica Marusa Borgonio-Cuadra; Carolina Duarte-Salazár; Lorena Lara-Alvarado; María de los Angeles Soria-Bastida; Socorro Cortés-González; Eva Ramón-Gallegos; Antonio Miranda-Duarte
Journal:  Rheumatol Int       Date:  2009-09-16       Impact factor: 2.631

8.  Type I procollagen in the severe non-lethal form of osteogenesis imperfecta. Defective pro-alpha 1(I) chains in a patient with abnormal proteoglycan metabolism and mineral deposits in the dermis.

Authors:  R Tenni; G Cetta; K Dyne; A Rossi; D Quacci; L Lenzi; A A Castellani
Journal:  Hum Genet       Date:  1988-07       Impact factor: 4.132

9.  Psychosocial aspects of osteogenesis imperfecta.

Authors:  G L Shea-Landry; D E Cole
Journal:  CMAJ       Date:  1986-11-01       Impact factor: 8.262

10.  Short stature--physiology and pathology.

Authors:  D L Rimoin; Z Borochowitz; W A Horton
Journal:  West J Med       Date:  1986-06
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