Literature DB >> 2235526

G to A polymorphism in exon 31 of the COL3A1 gene.

K Zafarullah1, C Kleinert, G Tromp, H Kuivaniemi, S Kontusaari, Y L Wu, A Ganguly, D J Prockop.   

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Year:  1990        PMID： 2235526      PMCID： PMC332473          DOI： 10.1093/nar/18.20.6180

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


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  1 in total

1.  Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences.

Authors:  L Ala-Kokko; S Kontusaari; C T Baldwin; H Kuivaniemi; D J Prockop
Journal:  Biochem J       Date:  1989-06-01       Impact factor: 3.857
  1 in total
  9 in total

1.  Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation.

Authors:  U Schwarze; B J Starman; P H Byers
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

2.  Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.

Authors:  S Kontusaari; G Tromp; H Kuivaniemi; C Stolle; F M Pope; D J Prockop
Journal:  Am J Hum Genet       Date:  1992-09       Impact factor: 11.025

3.  Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome.

Authors:  J Bonaventure; C Lasselin; J Mellier; L Cohen-Solal; P Maroteaux
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

4.  Polymorphism rs1800255 from COL3A1 gene and the risk for pelvic organ prolapse.

Authors:  Fernando Henrique Teixeira; César Eduardo Fernandes; Ricardo Peres do Souto; Emerson de Oliveira
Journal:  Int Urogynecol J       Date:  2019-04-30       Impact factor: 2.894

5.  Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.

Authors:  G Tromp; Y Wu; D J Prockop; S L Madhatheri; C Kleinert; J J Earley; J Zhuang; O Norrgård; R C Darling; W M Abbott
Journal:  J Clin Invest       Date:  1993-06       Impact factor: 14.808

6.  Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

Authors:  U Schwarze; W I Schievink; E Petty; M R Jaff; D Babovic-Vuksanovic; K J Cherry; M Pepin; P H Byers
Journal:  Am J Hum Genet       Date:  2001-09-27       Impact factor: 11.025

7.  COL3A1 2209G>A is a predictor of pelvic organ prolapse.

Authors:  Kirsten B Kluivers; Jeroen R Dijkstra; Jan C M Hendriks; Sabrina L Lince; Mark E Vierhout; Léon C L van Kempen
Journal:  Int Urogynecol J Pelvic Floor Dysfunct       Date:  2009-05-15

8.  Genetic polymorphisms in platelet-related proteins and coronary artery disease: investigation of candidate genes, including N-acetylgalactosaminyltransferase 4 (GALNT4) and sulphotransferase 1A1/2 (SULT1A1/2).

Authors:  A M O'Halloran; C C Patterson; P Horan; A Maree; R Curtin; A Stanton; P P McKeown; D C Shields
Journal:  J Thromb Thrombolysis       Date:  2008-02-08       Impact factor: 2.300

9.  The collαgen III fibril has a "flexi-rod" structure of flexible sequences interspersed with rigid bioactive domains including two with hemostatic roles.

Authors:  J Des Parkin; James D San Antonio; Anton V Persikov; Hayat Dagher; Raymond Dalgleish; Shane T Jensen; Xavier Jeunemaitre; Judy Savige
Journal:  PLoS One       Date:  2017-07-13       Impact factor: 3.240
  9 in total

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