Literature DB >> 21609947

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.

Vassili Valayannopoulos, Caroline Michot, Diana Rodriguez, Laurence Hubert, Yoann Saillour, Philippe Labrune, Jocelyne de Laveaucoupet, Francis Brunelle, Jeanne Amiel, Stanislas Lyonnet, Ferechté Enza-Razavi, Tania Attié-Bitach, Didier Lacombe, Nadia Bahi-Buisson, Isabelle Desguerre, Jamel Chelly, Lydie Burglen, Nathalie Boddaert, Pascale de Lonlay.   

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Year:  2011        PMID： 21609947     DOI： 10.1093/brain/awr108

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  8 in total

1.  A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.

Authors:  Toshiyuki Seto; Takashi Hamazaki; Satsuki Nishigaki; Satoshi Kudo; Haruo Shintaku; Yumiko Ondo; Keiko Shimojima; Toshiyuki Yamamoto
Journal:  Intractable Rare Dis Res       Date:  2017-08

2.  Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.

Authors:  Lydie Burglen; Sandra Chantot-Bastaraud; Catherine Garel; Mathieu Milh; Renaud Touraine; Ginevra Zanni; Florence Petit; Alexandra Afenjar; Cyril Goizet; Sabina Barresi; Aurélie Coussement; Christine Ioos; Leila Lazaro; Sylvie Joriot; Isabelle Desguerre; Didier Lacombe; Vincent des Portes; Enrico Bertini; Jean-Pierre Siffroi; Thierry Billette de Villemeur; Diana Rodriguez
Journal:  Orphanet J Rare Dis       Date:  2012-03-27       Impact factor: 4.123

Review 3.  Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.

Authors:  Yasmin Namavar; Peter G Barth; Bwee Tien Poll-The; Frank Baas
Journal:  Orphanet J Rare Dis       Date:  2011-07-12       Impact factor: 4.123

4.  Mutations in Drosophila tRNA processing factors cause phenotypes similar to Pontocerebellar Hypoplasia.

Authors:  Casey A Schmidt; Lucy Y Min; Michelle H McVay; Joseph D Giusto; John C Brown; Harmony R Salzler; A Gregory Matera
Journal:  Biol Open       Date:  2022-03-18       Impact factor: 2.422

Review 5.  The Non-Linear Path from Gene Dysfunction to Genetic Disease: Lessons from the MICPCH Mouse Model.

Authors:  Konark Mukherjee; Leslie E W LaConte; Sarika Srivastava
Journal:  Cells       Date:  2022-03-28       Impact factor: 6.600

6.  A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.

Authors:  Ying Zhang; Yanyan Nie; Yu Mu; Jie Zheng; Xiaowei Xu; Fang Zhang; Jianbo Shu; Yang Liu
Journal:  Ital J Pediatr       Date:  2022-05-12       Impact factor: 3.288

7.  X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner.

Authors:  Sarika Srivastava; Ryan McMillan; Jeffery Willis; Helen Clark; Vrushali Chavan; Chen Liang; Haiyan Zhang; Matthew Hulver; Konark Mukherjee
Journal:  Acta Neuropathol Commun       Date:  2016-03-31       Impact factor: 7.801

8.  A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family.

Authors:  Afrooz Sepahvand; Ehsan Razmara; Fatemeh Bitarafan; Mohammad Galehdari; Ali Reza Tavasoli; Navid Almadani; Masoud Garshasbi
Journal:  Mol Genet Genomic Med       Date:  2020-07-22       Impact factor: 2.183
  8 in total

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