Literature DB >> 9722958

The location of human CASK at Xp11.4 identifies this gene as a candidate for X-linked optic atrophy.

S D Dimitratos1, D G Stathakis, C A Nelson, D F Woods, P J Bryant.   

Abstract

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Year:  1998        PMID： 9722958     DOI： 10.1006/geno.1998.5404

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


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  11 in total

1.  Evolution of CASK into a Mg2+-sensitive kinase.

Authors:  Konark Mukherjee; Manu Sharma; Reinhard Jahn; Markus C Wahl; Thomas C Südhof
Journal:  Sci Signal       Date:  2010-04-27       Impact factor: 8.192

Review 2.  Synapse assembly and neurodevelopmental disorders.

Authors:  Philip Washbourne
Journal:  Neuropsychopharmacology       Date:  2014-07-03       Impact factor: 7.853

3.  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

4.  Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology of Visual System in Neonates.

Authors:  Chen Liang; Alicia Kerr; Yangfengzhong Qiu; Francesca Cristofoli; Hilde Van Esch; Michael A Fox; Konark Mukherjee
Journal:  Invest Ophthalmol Vis Sci       Date:  2017-10-01       Impact factor: 4.799

5.  CASK Functions as a Mg2+-independent neurexin kinase.

Authors:  Konark Mukherjee; Manu Sharma; Henning Urlaub; Gleb P Bourenkov; Reinhard Jahn; Thomas C Südhof; Markus C Wahl
Journal:  Cell       Date:  2008-04-18       Impact factor: 41.582

6.  A study of transposable element-associated structural variations (TASVs) using a de novo-assembled Korean genome.

Authors:  Seyoung Mun; Songmi Kim; Wooseok Lee; Keunsoo Kang; Thomas J Meyer; Bok-Ghee Han; Kyudong Han; Heui-Soo Kim
Journal:  Exp Mol Med       Date:  2021-04-08       Impact factor: 8.718

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

Review 8.  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

9.  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

10.  Susceptibility to glaucoma: differential comparison of the astrocyte transcriptome from glaucomatous African American and Caucasian American donors.

Authors:  Thomas J Lukas; Haixi Miao; Lin Chen; Sean M Riordan; Wenjun Li; Andrea M Crabb; Alexandria Wise; Pan Du; Simon M Lin; M Rosario Hernandez
Journal:  Genome Biol       Date:  2008-07-09       Impact factor: 13.583
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