Literature DB >> 11003712

Mapping and expression analysis of the human CASK gene.

D Stevenson1, H G Laverty, S Wenwieser, M Douglas, J B Wilson.   

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Year:  2000        PMID： 11003712     DOI： 10.1007/s003350010170

Source DB:  PubMed          Journal:  Mamm Genome        ISSN： 0938-8990            Impact factor:   2.957


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  13 in total

1.  Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).

Authors:  Shin Hayashi; Nobuhiko Okamoto; Yasutsugu Chinen; Jun-ichi Takanashi; Yoshio Makita; Akira Hata; Issei Imoto; Johji Inazawa
Journal:  Hum Genet       Date:  2011-07-07       Impact factor: 4.132

2.  CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.

Authors:  Anna Hackett; Patrick S Tarpey; Andrea Licata; James Cox; Annabel Whibley; Jackie Boyle; Carolyn Rogers; John Grigg; Michael Partington; Roger E Stevenson; John Tolmie; John Rw Yates; Gillian Turner; Meredith Wilson; Andrew P Futreal; Mark Corbett; Marie Shaw; Jozef Gecz; F Lucy Raymond; Michael R Stratton; Charles E Schwartz; Fatima E Abidi
Journal:  Eur J Hum Genet       Date:  2009-12-23       Impact factor: 4.246

3.  CASK loss of function differentially regulates neuronal maturation and synaptic function in human induced cortical excitatory neurons.

Authors:  Danny McSweeney; Rafael Gabriel; Kang Jin; Zhiping P Pang; Bruce Aronow; ChangHui Pak
Journal:  iScience       Date:  2022-09-23

4.  A missense mutation in CASK causes FG syndrome in an Italian family.

Authors:  Giulio Piluso; Francesca D'Amico; Valentina Saccone; Ettore Bismuto; Ida Luisa Rotundo; Marina Di Domenico; Stefania Aurino; Charles E Schwartz; Giovanni Neri; Vincenzo Nigro
Journal:  Am J Hum Genet       Date:  2009-02-05       Impact factor: 11.025

Review 5.  X-linked disorders with cerebellar dysgenesis.

Authors:  Ginevra Zanni; Enrico S Bertini
Journal:  Orphanet J Rare Dis       Date:  2011-05-15       Impact factor: 4.123

6.  Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).

Authors:  Shin Hayashi; Daniela Tiaki Uehara; Kousuke Tanimoto; Seiji Mizuno; Yasutsugu Chinen; Shinobu Fukumura; Jun-Ichi Takanashi; Hitoshi Osaka; Nobuhiko Okamoto; Johji Inazawa
Journal:  PLoS One       Date:  2017-08-07       Impact factor: 3.240

7.  Deficiency of calcium/calmodulin-dependent serine protein kinase disrupts the excitatory-inhibitory balance of synapses by down-regulating GluN2B.

Authors:  Takuma Mori; Enas A Kasem; Emi Suzuki-Kouyama; Xueshan Cao; Xue Li; Taiga Kurihara; Takeshi Uemura; Toru Yanagawa; Katsuhiko Tabuchi
Journal:  Mol Psychiatry       Date:  2019-01-04       Impact factor: 15.992

8.  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.  Presynaptic dysfunction in CASK-related neurodevelopmental disorders.

Authors:  Martin Becker; Francesca Mastropasqua; Jan Philipp Reising; Simon Maier; Mai-Lan Ho; Ielyzaveta Rabkina; Danyang Li; Janina Neufeld; Lea Ballenberger; Lynnea Myers; Viveka Moritz; Malin Kele; Josephine Wincent; Charlotte Willfors; Rouslan Sitnikov; Eric Herlenius; Britt-Marie Anderlid; Anna Falk; Sven Bölte; Kristiina Tammimies
Journal:  Transl Psychiatry       Date:  2020-09-14       Impact factor: 6.222

10.  The Moringin/α-CD Pretreatment Induces Neuroprotection in an In Vitro Model of Alzheimer's Disease: A Transcriptomic Study.

Authors:  Serena Silvestro; Luigi Chiricosta; Agnese Gugliandolo; Renato Iori; Patrick Rollin; Daniele Perenzoni; Fulvio Mattivi; Placido Bramanti; Emanuela Mazzon
Journal:  Curr Issues Mol Biol       Date:  2021-05-26       Impact factor: 2.976
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