Literature DB >> 23623288

A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot.

Kazuyuki Nakamura1, Kiyomi Nishiyama1, Hirofumi Kodera1, Mitsuko Nakashima1, Yoshinori Tsurusaki1, Noriko Miyake1, Naomichi Matsumoto1, Hirotomo Saitsu2, Hideo Jinnou3, Shigeru Ohki3, Kenji Yokochi4, Tohru Okanishi5, Hideo Enoki5.   

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Year:  2013        PMID： 23623288     DOI： 10.1016/j.braindev.2013.03.007

Source DB:  PubMed          Journal:  Brain Dev        ISSN： 0387-7604            Impact factor:   1.961


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  9 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.  A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.

Authors:  Zejuan Li; Rhonda Schonberg; Lucia Guidugli; Amy Knight Johnson; Stephen Arnovitz; Sandra Yang; Joseph Scafidi; Marshall L Summar; Gilbert Vezina; Soma Das; Kimberly Chapman; Daniela del Gaudio
Journal:  J Hum Genet       Date:  2015-03-26       Impact factor: 3.172

3.  Phenotypic and molecular insights into CASK-related disorders in males.

Authors:  Ute Moog; Tatjana Bierhals; Kristina Brand; Jan Bautsch; Saskia Biskup; Thomas Brune; Jonas Denecke; Christine E de Die-Smulders; Christina Evers; Maja Hempel; Marco Henneke; Helger Yntema; Björn Menten; Joachim Pietz; Rolph Pfundt; Jörg Schmidtke; Doris Steinemann; Constance T Stumpel; Lionel Van Maldergem; Kerstin Kutsche
Journal:  Orphanet J Rare Dis       Date:  2015-04-12       Impact factor: 4.123

4.  Identification and glycerol-induced correction of misfolding mutations in the X-linked mental retardation gene CASK.

Authors:  Leslie E W LaConte; Vrushali Chavan; Konark Mukherjee
Journal:  PLoS One       Date:  2014-02-05       Impact factor: 3.240

Review 5.  Consensus Paper: Cerebellar Development.

Authors:  Ketty Leto; Marife Arancillo; Esther B E Becker; Annalisa Buffo; Chin Chiang; Baojin Ding; William B Dobyns; Isabelle Dusart; Parthiv Haldipur; Mary E Hatten; Mikio Hoshino; Alexandra L Joyner; Masanobu Kano; Daniel L Kilpatrick; Noriyuki Koibuchi; Silvia Marino; Salvador Martinez; Kathleen J Millen; Thomas O Millner; Takaki Miyata; Elena Parmigiani; Karl Schilling; Gabriella Sekerková; Roy V Sillitoe; Constantino Sotelo; Naofumi Uesaka; Annika Wefers; Richard J T Wingate; Richard Hawkes
Journal:  Cerebellum       Date:  2016-12       Impact factor: 3.847

Review 6.  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

7.  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

8.  Case Report: Identification of a novel CASK missense variant in a Chinese family with MICPCH.

Authors:  Runfeng Zhang; Peng Jia; Yanyi Yao; Feng Zhu
Journal:  Front Genet       Date:  2022-08-25       Impact factor: 4.772

9.  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
  9 in total

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