Literature DB >> 1363780

De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.

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

Abstract

Southern blot analysis of the COL4A5 gene in a 6 year old Italian Alport patient (proband VIZ) showed the loss of an MspI site that was present in the mother and control DNAs. PCR amplification and DNA sequencing revealed a single G-->A nucleotide change. The mutation results in substitution of a glutamic acid for a glycine residue at position 325 in the triple helical region of the alpha 5(IV) chain.

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Year:  1992        PMID： 1363780     DOI： 10.1093/hmg/1.2.127

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


  7 in total

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Authors:  Aaron L Fidler; Sergei P Boudko; Antonis Rokas; Billy G Hudson
Journal:  J Cell Sci       Date:  2018-04-09       Impact factor: 5.285

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.  Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.

Authors:  C Antignac; B Knebelmann; L Drouot; F Gros; G Deschênes; M C Hors-Cayla; J Zhou; K Tryggvason; J P Grünfeld; M Broyer
Journal:  J Clin Invest       Date:  1994-03       Impact factor: 14.808

4.  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

5.  X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

Authors:  A Renieri; M Bruttini; L Galli; P Zanelli; T Neri; S Rossetti; A Turco; N Heiskari; J Zhou; R Gusmano; L Massella; G Banfi; F Scolari; A Sessa; G Rizzoni; K Tryggvason; P F Pignatti; M Savi; A Ballabio; M De Marchi
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

6.  Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.

Authors:  Xiaojing Xu; Xiaoxu Yang; Qixi Wu; Aijie Liu; Xiaoling Yang; Adam Yongxin Ye; August Yue Huang; Jiarui Li; Meng Wang; Zhe Yu; Sheng Wang; Zhichao Zhang; Xiru Wu; Liping Wei; Yuehua Zhang
Journal:  Hum Mutat       Date:  2015-07-24       Impact factor: 4.878

7.  Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine.

Authors:  Pilar Antón-Martín; Cristina Aparicio López; Soraya Ramiro-León; Sonia Santillán Garzón; Fernando Santos-Simarro; Belén Gil-Fournier
Journal:  Clin Med Insights Pediatr       Date:  2012-06-28
  7 in total

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