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Literature DB >> 17595013

A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.

Claudio Graziano¹, Angela V D'Elia, Laura Mazzanti, Filomena Moscano, Simonetta Guidelli Guidi, Emanuela Scarano, Daniela Turchetti, Emilio Franzoni, Giovanni Romeo, Giuseppe Damante, Marco Seri.

Abstract

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 2007 PMID： 17595013 DOI： 10.1002/ajmg.a.31808

Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802

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19 in total

1. Discovery and assessment of conserved Pax6 target genes and enhancers.

Authors: Pedro Coutinho; Sofia Pavlou; Shipra Bhatia; Kevin J Chalmers; Dirk A Kleinjan; Veronica van Heyningen
Journal: Genome Res Date: 2011-05-26 Impact factor: 9.043

2. Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

Authors: Sylvie Gerber; Kamil J Alzayady; Lydie Burglen; Dominique Brémond-Gignac; Valentina Marchesin; Olivier Roche; Marlène Rio; Benoit Funalot; Raphaël Calmon; Alexandra Durr; Vera Lucia Gil-da-Silva-Lopes; Maria Fernanda Ribeiro Bittar; Christophe Orssaud; Bénédicte Héron; Edward Ayoub; Patrick Berquin; Nadia Bahi-Buisson; Christine Bole; Cécile Masson; Arnold Munnich; Matias Simons; Marion Delous; Helene Dollfus; Nathalie Boddaert; Stanislas Lyonnet; Josseline Kaplan; Patrick Calvas; David I Yule; Jean-Michel Rozet; Lucas Fares Taie
Journal: Am J Hum Genet Date: 2016-04-21 Impact factor: 11.025

3. Human brain evolution: harnessing the genomics (r)evolution to link genes, cognition, and behavior.

Authors: Genevieve Konopka; Daniel H Geschwind
Journal: Neuron Date: 2010-10-21 Impact factor: 17.173

Review 4. Aniridia.

Authors: Melanie Hingorani; Isabel Hanson; Veronica van Heyningen
Journal: Eur J Hum Genet Date: 2012-06-13 Impact factor: 4.246

5. Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.

Authors: Dominique Brémond-Gignac; Pierre Bitoun; Linda M Reis; Henri Copin; Jeffrey C Murray; Elena V Semina
Journal: Mol Vis Date: 2010-08-22 Impact factor: 2.367

6. G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis.

Authors: Rustam Azimov; Natalia Abuladze; Pakan Sassani; Debra Newman; Liyo Kao; Weixin Liu; Nicholas Orozco; Piotr Ruchala; Alexander Pushkin; Ira Kurtz
Journal: Am J Physiol Renal Physiol Date: 2008-07-09

A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.

1. Discovery and assessment of conserved Pax6 target genes and enhancers.

2. Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

3. Human brain evolution: harnessing the genomics (r)evolution to link genes, cognition, and behavior.

Review 4. Aniridia.

5. Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.

6. G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis.

Review 7. Pax6 3' deletion results in aniridia, autism and mental retardation.

8. Evaluation of Pax6 mutant rat as a model for autism.

9. Molecular genetics of familial nystagmus complicated with cataract and iris anomalies.

10. Eye anomalies and neurological manifestations in patients with PAX6 mutations.