Literature DB >> 1577459

Alport syndrome caused by a 5' deletion within the COL4A5 gene.

A Renieri1, M Seri, J C Myers, T Pihlajaniemi, A Sessa, G Rizzoni, M De Marchi.   

Abstract

Fourteen Italian patients affected with X-linked Alport syndrome were analyzed by Southern blotting, using cDNA probes of the COL4A5 gene. One proband was shown to carry a large deletion (greater than 38 kb) that included the 5' part of the gene.

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Year:  1992        PMID： 1577459     DOI： 10.1007/bf00207059

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


  7 in total

1.  Identification of mutations in the COL4A5 collagen gene in Alport syndrome.

Authors:  D F Barker; S L Hostikka; J Zhou; L T Chow; A R Oliphant; S C Gerken; M C Gregory; M H Skolnick; C L Atkin; K Tryggvason
Journal:  Science       Date:  1990-06-08       Impact factor: 47.728

2.  Localization of the gene for classic Alport syndrome.

Authors:  F A Flinter; S Abbs; M Bobrow
Journal:  Genomics       Date:  1989-04       Impact factor: 5.736

Review 3.  Genetics of classic Alport's syndrome.

Authors:  F A Flinter; J S Cameron; C Chantler; I Houston; M Bobrow
Journal:  Lancet       Date:  1988-10-29       Impact factor: 79.321

4.  Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome.

Authors:  S L Hostikka; R L Eddy; M G Byers; M Höyhtyä; T B Shows; K Tryggvason
Journal:  Proc Natl Acad Sci U S A       Date:  1990-02       Impact factor: 11.205

5.  Complete primary structure of the triple-helical region and the carboxyl-terminal domain of a new type IV collagen chain, alpha 5(IV).

Authors:  T Pihlajaniemi; E R Pohjolainen; J C Myers
Journal:  J Biol Chem       Date:  1990-08-15       Impact factor: 5.157

6.  Characterization of the 3' half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome.

Authors:  J Zhou; S L Hostikka; L T Chow; K Tryggvason
Journal:  Genomics       Date:  1991-01       Impact factor: 5.736

7.  Molecular cloning of alpha 5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus.

Authors:  J C Myers; T A Jones; E R Pohjolainen; A S Kadri; A D Goddard; D Sheer; E Solomon; T Pihlajaniemi
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025
  7 in total
  3 in total

1.  Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene.

Authors:  Jens Michael Hertz; Ulf Persson; Inger Juncker; Mårten Segelmark
Journal:  Hum Genet       Date:  2005-10-28       Impact factor: 4.132

2.  Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome.

Authors:  A Renieri; M Seri; L Galli; P Cosci; E Imbasciati; L Massella; G Rizzoni; G Restagno; A O Carbonara; E Stramignoni
Journal:  Hum Genet       Date:  1993-10       Impact factor: 4.132

3.  Expression studies of osteoglycin/mimecan (OGN) in the cochlea and auditory phenotype of Ogn-deficient mice.

Authors:  Robin E Williamson; Keith N Darrow; Anne B S Giersch; Barbara L Resendes; Mingqian Huang; Gary W Conrad; Zheng-Yi Chen; M Charles Liberman; Cynthia C Morton; Elena S Tasheva
Journal:  Hear Res       Date:  2007-12-28       Impact factor: 3.208
  3 in total

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