Literature DB >> 3842588

The molecular genetics of collagen.

B Sykes.   

Abstract

Mesh：

Substances：

Year:  1985        PMID： 3842588     DOI： 10.1002/bies.950030306

Source DB:  PubMed          Journal:  Bioessays        ISSN： 0265-9247            Impact factor:   4.345


× No keyword cloud information.
  8 in total

Review 1.  Dysmorphic syndromes with demonstrable biochemical abnormalities.

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

2.  Prenatal diagnosis of osteogenesis imperfecta by identification of the concordant collagen 1 allele.

Authors:  J R Lynch; D Ogilvie; L Priestley; C Baigrie; R Smith; P Farndon; B Sykes
Journal:  J Med Genet       Date:  1991-03       Impact factor: 6.318

Review 3.  Osteogenesis imperfecta: from phenotype to genotype and back again.

Authors:  R Smith
Journal:  Int J Exp Pathol       Date:  1994-08       Impact factor: 1.925

4.  Local amino acid sequence patterns dominate the heterogeneous phenotype for the collagen connective tissue disease Osteogenesis Imperfecta resulting from Gly mutations.

Authors:  Jianxi Xiao; Zhangfu Yang; Xiuxia Sun; Rayna Addabbo; Jean Baum
Journal:  J Struct Biol       Date:  2015-05-15       Impact factor: 2.867

Review 5.  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

6.  Osteogenesis imperfecta type IIA: evidence for dominant inheritance.

Authors:  I D Young; E M Thompson; C M Hall; M E Pembrey
Journal:  J Med Genet       Date:  1987-07       Impact factor: 6.318

7.  Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing.

Authors:  Jianlong Zhuang; Chunnuan Chen; Yu'e Chen; Qi Luo; Yuanbai Wang; Yuying Jiang; Shuhong Zeng; Yingjun Xie; Dongmei Chen
Journal:  Front Pediatr       Date:  2022-04-08       Impact factor: 3.418

8.  Global control of aberrant splice-site activation by auxiliary splicing sequences: evidence for a gradient in exon and intron definition.

Authors:  Jana Královicová; Igor Vorechovsky
Journal:  Nucleic Acids Res       Date:  2007-09-18       Impact factor: 16.971
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.