Literature DB >> 12731001

Polymicrogyria and absence of pineal gland due to PAX6 mutation.

Tejal N Mitchell1, Samantha L Free, Kathleen A Williamson, John M Stevens, Amanda J Churchill, Isabel M Hanson, Simon D Shorvon, Anthony T Moore, Veronica van Heyningen, Sanjay M Sisodiya.   

Abstract

Identification of genes involved in human cerebral development is important for our understanding of disorders with potential neurodevelopmental causes such as epilepsy and learning disability. Murine models suggest that PAX6 plays a key role in human brain development. With magnetic resonance imaging in 24 humans heterozygous for defined PAX6 mutations, we demonstrated widespread structural abnormalities including absence of the pineal gland and unilateral polymicrogyria.

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 12731001     DOI： 10.1002/ana.10576

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  58 in total

1.  Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.

Authors:  Mary C O'Driscoll; Sarah B Daly; Jill E Urquhart; Graeme C M Black; Daniela T Pilz; Knut Brockmann; Meriel McEntagart; Ghada Abdel-Salam; Maha Zaki; Nicole I Wolf; Roger L Ladda; Susan Sell; Stefano D'Arrigo; Waney Squier; William B Dobyns; John H Livingston; Yanick J Crow
Journal:  Am J Hum Genet       Date:  2010-08-19       Impact factor: 11.025

Review 2.  Eye development genes and known syndromes.

Authors:  Anne M Slavotinek
Journal:  Mol Genet Metab       Date:  2011-09-29       Impact factor: 4.797

Review 3.  Genetics of the polymicrogyria syndromes.

Authors:  A Jansen; E Andermann
Journal:  J Med Genet       Date:  2005-05       Impact factor: 6.318

Review 4.  Exploiting human anatomical variability as a link between genome and cognome.

Authors:  C M Leonard; M A Eckert; J M Kuldau
Journal:  Genes Brain Behav       Date:  2006       Impact factor: 3.449

Review 5.  Genetic malformations of cortical development.

Authors:  Renzo Guerrini; Carla Marini
Journal:  Exp Brain Res       Date:  2006-05-25       Impact factor: 1.972

6.  Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

Authors:  William B Dobyns; Ghayda Mirzaa; Susan L Christian; Kristin Petras; Jessica Roseberry; Gary D Clark; Cynthia J R Curry; Donna McDonald-McGinn; Livija Medne; Elaine Zackai; Julie Parsons; Dina J Zand; Fuki M Hisama; Christopher A Walsh; Richard J Leventer; Christa L Martin; Marzena Gajecka; Lisa G Shaffer
Journal:  Am J Med Genet A       Date:  2008-07-01       Impact factor: 2.802

7.  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

8.  A reaction-diffusion model of human brain development.

Authors:  Julien Lefèvre; Jean-François Mangin
Journal:  PLoS Comput Biol       Date:  2010-04-22       Impact factor: 4.475

9.  Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.

Authors:  Anouk Dansault; Gabriel David; Claire Schwartz; Carolina Jaliffa; Véronique Vieira; Guillaume de la Houssaye; Karine Bigot; Françise Catin; Laurent Tattu; Catherine Chopin; Philippe Halimi; Olivier Roche; Nicole Van Regemorter; Francis Munier; Daniel Schorderet; Jean-Louis Dufier; Cécile Marsac; Daniel Ricquier; Maurice Menasche; Alfred Penfornis; Marc Abitbol
Journal:  Mol Vis       Date:  2007-04-02       Impact factor: 2.367

10.  PAX6 aniridia and interhemispheric brain anomalies.

Authors:  Hana Abouzeid; Mohamed A Youssef; Nihal ElShakankiri; Philippe Hauser; Francis L Munier; Daniel F Schorderet
Journal:  Mol Vis       Date:  2009-10-17       Impact factor: 2.367
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.