Literature DB >> 2894346

Homozygous osteogenesis imperfecta unlinked to collagen I genes.

K Aitchison1, D Ogilvie, M Honeyman, E Thompson, B Sykes.   

Abstract

In a consanguineous pedigree in which a severe type of osteogenesis imperfecta was segregating as an autosomal recessive trait, analysis of genetic markers for both collagen I structural loci COL1A1 and COL1A2 showed that the phenotype was unlinked to either locus.

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Year:  1988        PMID： 2894346     DOI： 10.1007/bf00291667

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  14 in total

1.  Individual-specific 'fingerprints' of human DNA.

Authors:  A J Jeffreys; V Wilson; S L Thein
Journal:  Nature       Date:  1985 Jul 4-10       Impact factor: 49.962

2.  Prenatal diagnosis of osteogenesis imperfecta type III.

Authors:  L P Robinson; N J Worthen; R S Lachman; G E Adomian; D L Rimoin
Journal:  Prenat Diagn       Date:  1987       Impact factor: 3.050

3.  An RFLP close to the human collagen I gene COL1A1.

Authors:  D J Ogilvie; K Aitchison; B C Sykes
Journal:  Nucleic Acids Res       Date:  1987-06-11       Impact factor: 16.971

4.  Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene.

Authors:  A F Grobler-Rabie; D K Brebner; S Vandenplas; G Wallis; R Dalgleish; R E Kaufman; A J Bester; C G Mathew; C D Boyd
Journal:  J Med Genet       Date:  1985-06       Impact factor: 6.318

5.  Altered relation of two collagen types in osteogenesis imperfecta.

Authors:  B Sykes; M J Francis; R Smith
Journal:  N Engl J Med       Date:  1977-05-26       Impact factor: 91.245

6.  Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanation.

Authors:  B C Sykes; D J Ogilvie; B P Wordsworth
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

7.  Prenatal diagnosis of a severe deforming type of osteogenesis imperfecta.

Authors:  A S Aylsworth; J W Seeds; W B Guilford; C B Burns; D B Washburn
Journal:  Am J Med Genet       Date:  1984-12

8.  Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.

Authors:  T Pihlajaniemi; L A Dickson; F M Pope; V R Korhonen; A Nicholls; D J Prockop; J C Myers
Journal:  J Biol Chem       Date:  1984-11-10       Impact factor: 5.157

9.  Osteogenesis imperfecta is linked to both type I collagen structural genes.

Authors:  B Sykes; D Ogilvie; P Wordsworth; N Jones
Journal:  Lancet       Date:  1986-07-12       Impact factor: 79.321

10.  Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta.

Authors:  A F Grobler-Rabie; G Wallis; D K Brebner; P Beighton; A J Bester; C G Mathew
Journal:  EMBO J       Date:  1985-07       Impact factor: 11.598
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  13 in total

1.  Collagen metabolism in cultured osteoblasts from osteogenesis imperfecta patients.

Authors:  M Mörike; R E Brenner; G B Bushart; W M Teller; U Vetter
Journal:  Biochem J       Date:  1992-08-15       Impact factor: 3.857

2.  Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.

Authors:  C J Pruchno; D H Cohn; G A Wallis; M C Willing; B J Starman; X M Zhang; P H Byers
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

Review 3.  Osteogenesis imperfecta: translation of mutation to phenotype.

Authors:  P H Byers; G A Wallis; M C Willing
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

4.  Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.

Authors:  Wayne A Cabral; Weizhong Chang; Aileen M Barnes; MaryAnn Weis; Melissa A Scott; Sergey Leikin; Elena Makareeva; Natalia V Kuznetsova; Kenneth N Rosenbaum; Cynthia J Tifft; Dorothy I Bulas; Chahira Kozma; Peter A Smith; David R Eyre; Joan C Marini
Journal:  Nat Genet       Date:  2007-02-04       Impact factor: 38.330

5.  Segregation analysis of dominant osteogenesis imperfecta in Italy.

Authors:  M Mottes; L Cugola; N Cappello; P F Pignatti
Journal:  J Med Genet       Date:  1990-06       Impact factor: 6.318

6.  Haplotype frequencies of the collagen type-I genes in the Italian population.

Authors:  M Mottes; L Cugola; P F Pignatti
Journal:  Hum Genet       Date:  1989-11       Impact factor: 4.132

Review 7.  Dysmorphic syndromes with demonstrable biochemical abnormalities.

Authors:  P T Clayton; E Thompson
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

8.  Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.

Authors:  G A Wallis; B Sykes; P H Byers; C G Mathew; D Viljoen; P Beighton
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

9.  Osteopotentia regulates osteoblast maturation, bone formation, and skeletal integrity in mice.

Authors:  Michael L Sohaskey; Yebin Jiang; Jenny J Zhao; Andreas Mohr; Frank Roemer; Richard M Harland
Journal:  J Cell Biol       Date:  2010-05-03       Impact factor: 10.539

10.  Radiological "metamorphosis" in a patient with severe congenital osteogenesis imperfecta.

Authors:  F Pendola; C Borrone; M Filocamo; M Lituania; B Steinmann; A Superti-Furga
Journal:  Eur J Pediatr       Date:  1990-03       Impact factor: 3.183
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