Literature DB >> 6146097

Heritable diseases of collagen.

D J Prockop, K I Kivirikko.   

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Year:  1984        PMID: 6146097     DOI: 10.1056/NEJM198408093110606

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  123 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

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

3.  Increased expression of the gene for the pro alpha 1(IV) chain of basement-membrane procollagen in cultured skin fibroblasts from two variants of osteogenesis imperfecta.

Authors:  T Pihlajaniemi; J McKeon; S Gay; R Gay; W J de Wet; J C Myers; D J Prockop
Journal:  Biochem J       Date:  1989-01-15       Impact factor: 3.857

4.  Thermal stability of human-fibroblast-collagenase-cleavage products of type-I and type-III collagens.

Authors:  C C Danielsen
Journal:  Biochem J       Date:  1987-11-01       Impact factor: 3.857

5.  Leukoregulin down-regulates type I collagen mRNA levels and promoter activity in human dermal fibroblasts, and counteracts the up-regulation elicited by transforming growth factor-beta.

Authors:  A Mauviel; C H Evans; J Uitto
Journal:  Biochem J       Date:  1992-06-15       Impact factor: 3.857

6.  Fibroblastlike primary cells from human colon adenocarcinoma explants: collagen biosynthesis.

Authors:  J Turnay; N Olmo; J G Gavilanes; M A Lizarbe
Journal:  In Vitro Cell Dev Biol       Date:  1991-06

7.  Candidate cell and matrix interaction domains on the collagen fibril, the predominant protein of vertebrates.

Authors:  Shawn M Sweeney; Joseph P Orgel; Andrzej Fertala; Jon D McAuliffe; Kevin R Turner; Gloria A Di Lullo; Steven Chen; Olga Antipova; Shiamalee Perumal; Leena Ala-Kokko; Antonella Forlino; Wayne A Cabral; Aileen M Barnes; Joan C Marini; James D San Antonio
Journal:  J Biol Chem       Date:  2008-05-15       Impact factor: 5.157

8.  Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias.

Authors:  P Wordsworth; D Ogilvie; L Priestley; R Smith; R Wynne-Davies; B Sykes
Journal:  J Med Genet       Date:  1988-08       Impact factor: 6.318

9.  Ehlers-Danlos syndrome, clotting disorders and muscular dystrophy.

Authors:  P Bertin; R Treves; A Julia; S Gaillard; R Desproges-Gotteron
Journal:  Ann Rheum Dis       Date:  1989-11       Impact factor: 19.103

Review 10.  Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

Authors:  Joan C Marini; Antonella Forlino; Wayne A Cabral; Aileen M Barnes; James D San Antonio; Sarah Milgrom; James C Hyland; Jarmo Körkkö; Darwin J Prockop; Anne De Paepe; Paul Coucke; Sofie Symoens; Francis H Glorieux; Peter J Roughley; Alan M Lund; Kaija Kuurila-Svahn; Heini Hartikka; Daniel H Cohn; Deborah Krakow; Monica Mottes; Ulrike Schwarze; Diana Chen; Kathleen Yang; Christine Kuslich; James Troendle; Raymond Dalgleish; Peter H Byers
Journal:  Hum Mutat       Date:  2007-03       Impact factor: 4.878

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