Literature DB >> 1732793

Seminars in medicine of the Beth Israel Hospital, Boston. Mutations in collagen genes as a cause of connective-tissue diseases.

D J Prockop1.   

Abstract

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Year:  1992        PMID： 1732793     DOI： 10.1056/NEJM199202203260807

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


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  23 in total

Review 1.  Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases.

Authors:  J Uitto; A M Christiano
Journal:  J Clin Invest       Date:  1992-09       Impact factor: 14.808

2.  Collagen from the osteogenesis imperfecta mouse model (oim) shows reduced resistance against tensile stress.

Authors:  K Misof; W J Landis; K Klaushofer; P Fratzl
Journal:  J Clin Invest       Date:  1997-07-01       Impact factor: 14.808

3.  Hereditary xanthinuria and Ehlers-Danlos syndrome.

Authors:  B Roca; C Calabuig; J Sastre; M Arenas
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

Review 4.  Epidermolysis bullosa: hereditary skin fragility diseases as paradigms in cell biology.

Authors:  R A Eady; M G Dunnill
Journal:  Arch Dermatol Res       Date:  1994       Impact factor: 3.017

5.  Osteogenesis imperfecta with partial trisomy 15.

Authors:  Rajniti Prasad; Biswanath Basu; Utpal Kant Singh; Om Prakash Mishra
Journal:  BMJ Case Rep       Date:  2009-02-26

Review 6.  The type II collagenopathies: a spectrum of chondrodysplasias.

Authors:  J Spranger; A Winterpacht; B Zabel
Journal:  Eur J Pediatr       Date:  1994-02       Impact factor: 3.183

7.  Association of kidney structure-related gene variants with type 2 diabetes-attributed end-stage kidney disease in African Americans.

Authors:  Meijian Guan; Jun Ma; Jacob M Keaton; Latchezar Dimitrov; Poorva Mudgal; Mary Stromberg; Jason A Bonomo; Pamela J Hicks; Barry I Freedman; Donald W Bowden; Maggie C Y Ng
Journal:  Hum Genet       Date:  2016-07-26       Impact factor: 4.132

8.  Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen.

Authors:  Anna Galicka; Sławomir Wołczyński; Andrzej Gindzieński; Arkadiusz Surazyński; Jerzy Pałka
Journal:  Mol Cell Biochem       Date:  2003-06       Impact factor: 3.396

9.  Neoplastic association of enhanced type V collagen production in rat fibrosarcoma.

Authors:  R Asokan; G K Reddy; S C Dhar
Journal:  Mol Cell Biochem       Date:  1993-03-10       Impact factor: 3.396

10.  An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in joints.

Authors:  H J Helminen; K Kiraly; A Pelttari; M I Tammi; P Vandenberg; R Pereira; R Dhulipala; J S Khillan; L Ala-Kokko; E L Hume
Journal:  J Clin Invest       Date:  1993-08       Impact factor: 14.808
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