Literature DB >> 6419811

An abnormal collagen alpha chain containing cysteine in autosomal dominant osteogenesis imperfecta.

A C Nicholls, F M Pope, D Craig.   

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Year:  1984        PMID： 6419811      PMCID： PMC1444002          DOI： 10.1136/bmj.288.6411.112

Source DB:  PubMed          Journal:  Br Med J (Clin Res Ed)        ISSN： 0267-0623


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  4 in total

1.  Quantitative film detection of 3H and 14C in polyacrylamide gels by fluorography.

Authors:  R A Laskey; A D Mills
Journal:  Eur J Biochem       Date:  1975-08-15

2.  Cleavage of structural proteins during the assembly of the head of bacteriophage T4.

Authors:  U K Laemmli
Journal:  Nature       Date:  1970-08-15       Impact factor: 49.962

3.  The estimation of two collagens from human dermis by interrupted gel electrophoresis.

Authors:  B Sykes; B Puddle; M Francis; R Smith
Journal:  Biochem Biophys Res Commun       Date:  1976-10-18       Impact factor: 3.575

4.  Genetic heterogeneity in osteogenesis imperfecta.

Authors:  D O Sillence; A Senn; D M Danks
Journal:  J Med Genet       Date:  1979-04       Impact factor: 6.318
  4 in total
  14 in total

1.  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

2.  Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.

Authors:  D H Cohn; P H Byers; B Steinmann; R E Gelinas
Journal:  Proc Natl Acad Sci U S A       Date:  1986-08       Impact factor: 11.205

Review 3.  Prenatal diagnosis and prevention of inherited abnormalities of collagen.

Authors:  F M Pope; S C Daw; P Narcisi; A R Richards; A C Nicholls
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

Review 4.  Genetic disorders of collagen.

Authors:  P Tsipouras; F Ramirez
Journal:  J Med Genet       Date:  1987-01       Impact factor: 6.318

Review 5.  Collagen genes and inherited connective tissue disease.

Authors:  K S Cheah
Journal:  Biochem J       Date:  1985-07-15       Impact factor: 3.857

6.  Molecular abnormalities of collagen in human disease.

Authors:  F M Pope; A C Nicholls
Journal:  Arch Dis Child       Date:  1987-05       Impact factor: 3.791

7.  Transgenic mouse model of the mild dominant form of osteogenesis imperfecta.

Authors:  J Bonadio; T L Saunders; E Tsai; S A Goldstein; J Morris-Wiman; L Brinkley; D F Dolan; R A Altschuler; J E Hawkins; J F Bateman
Journal:  Proc Natl Acad Sci U S A       Date:  1990-09       Impact factor: 11.205

Review 8.  Mutations in collagen genes. Consequences for rare and common diseases.

Authors:  D J Prockop
Journal:  J Clin Invest       Date:  1985-03       Impact factor: 14.808

9.  Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.

Authors:  M C Willing; C J Pruchno; M Atkinson; P H Byers
Journal:  Am J Hum Genet       Date:  1992-09       Impact factor: 11.025

10.  Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.

Authors:  M C Willing; D H Cohn; P H Byers
Journal:  J Clin Invest       Date:  1990-01       Impact factor: 14.808
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