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Select item 104548561.

Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein

Takuma Mori, Mengyun Zhou, Katsuhiko Tabuchi

Genes (Basel) 2023 Aug; 14(8): 1656. Published online 2023 Aug 20. doi: 10.3390/genes14081656

PMCID:: PMC10454856

Article PDF–2.7M

Select item 96516102.

Two heterozygous mutations in the calcium/calmodulin‐dependent serine protein kinase gene (CASK) in cases with developmental disorders

Kunfang Yang, Longlong Lin, Fang Yuan, Xiaoguang Li, Zhiping Liu, Xiaoping Lan, Yilin Wang, Yun Ren, Jiaoyan Li, Yucai Chen

Mol Genet Genomic Med. 2022 Nov; 10(11): e2065. Published online 2022 Sep 28. doi: 10.1002/mgg3.2065

PMCID:: PMC9651610

Article PDF–1.4M

Select item 82085463.

Functional analysis of CASK transcript variants expressed in human brain

Debora Tibbe, Yingzhou Edward Pan, Carsten Reißner, Frederike L. Harms, Hans-Jürgen Kreienkamp

PLoS One. 2021; 16(6): e0253223. Published online 2021 Jun 16. doi: 10.1371/journal.pone.0253223

PMCID:: PMC8208546

Article PDF–2.9M

Select item 76551774.

Colorectal cancer patients with CASK promotor heterogeneous and homogeneous methylation display different prognosis

Ying Liu, Hao Huang, Jinming Fu, Yuanyuan Zhang, Jing Xu, Lei Zhang, Simin Sun, Liyuan Zhao, Ding Zhang, Justina Ucheojor Onwuka, Hongru Sun, Binbin Cui, Yashuang Zhao

Aging (Albany NY) 2020 Oct 31; 12(20): 20561–20586. Published online 2020 Oct 28. doi: 10.18632/aging.103928

PMCID:: PMC7655177

Article PDF–1.8M

Select item 72351635.

CASK, the Soluble Glomerular Permeability Factor, Is Secreted by Macrophages in Patients With Recurrent Focal and Segmental Glomerulo—Sclerosis

Xiaomeng Zhang, Florence Herr, Amelia Vernochet, Hans K. Lorenzo, Séverine Beaudreuil, Antoine Dürrbach

Front Immunol. 2020; 11: 875. Published online 2020 May 12. doi: 10.3389/fimmu.2020.00875

PMCID:: PMC7235163

Article PDF–1.4M

Select item 63475106.

An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy

Leslie E. W. LaConte, Vrushali Chavan, Stephanie DeLuca, Karol Rubin, Jessica Malc, Susan Berry, C. Gail Summers, Konark Mukherjee

Am J Med Genet A. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: Am J Med Genet A. 2019 Jan; 179(1): 94–103. Published online 2018 Dec 14. doi: 10.1002/ajmg.a.60687

PMCID:: PMC6347510

Article PDF–1.9M

Select item 57359547.

A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation

Stephanie C. DeLuca, Dory A. Wallace, Mary Rebekah Trucks, Konark Mukherjee

BMC Res Notes. 2017; 10: 743. Published online 2017 Dec 19. doi: 10.1186/s13104-017-3065-z

PMCID:: PMC5735954

Article PDF–928K

Select item 55465758.

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

Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, Seiji Mizuno, Yasutsugu Chinen, Shinobu Fukumura, Jun-ichi Takanashi, Hitoshi Osaka, Nobuhiko Okamoto, Johji Inazawa

PLoS One. 2017; 12(8): e0181791. Published online 2017 Aug 7. doi: 10.1371/journal.pone.0181791

PMCID:: PMC5546575

Article PDF–4.9M

Select item 33517399.

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

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

Orphanet J Rare Dis. 2012; 7: 18. Published online 2012 Mar 27. doi: 10.1186/1750-1172-7-18

PMCID:: PMC3351739

Article PDF–1.4M

Select item 298732110.

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

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

Eur J Hum Genet. 2010 May; 18(5): 544–552. Published online 2009 Dec 23. doi: 10.1038/ejhg.2009.220

Correction in:: Eur J Hum Genet. 2010 May; 18(5): 552.

PMCID:: PMC2987321

Article PDF–675K

Select item 850950211.

Exploration of the Hsa-miR-1587–Protein Interaction and the Inhibition to CASK

Lulu Zhang, Jiang Zhou, Ming Xu, Gu Yuan

Int J Mol Sci. 2021 Oct; 22(19): 10716. Published online 2021 Oct 3. doi: 10.3390/ijms221910716

PMCID:: PMC8509502

Article PDF–2.3M

Select item 686516612.

Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype

EYAL REINSTEIN, SHAY TZUR, CONCETTA BORMANS, DORON M. BEHAR

Genet Res (Camb) 2016; 98: e8. Published online 2016 May 13. doi: 10.1017/S0016672316000045

PMCID:: PMC6865166

Article PDF–146K

Select item 678603513.

Molecular Analysis of the X11–mLin-2/CASK Complex in Brain

Jean-Paul Borg, Manuel O. Lõpez-Figueroa, Mylène de Taddèo-Borg, Dallas E. Kroon, R. Scott Turner, Stanley J. Watson, Ben Margolis

J Neurosci. 1999 Feb 15; 19(4): 1307–1316. doi: 10.1523/JNEUROSCI.19-04-01307.1999

PMCID:: PMC6786035

Article PDF–506K

Select item 666300614.

Circulating CASK is associated with recurrent focal segmental glomerulosclerosis after transplantation

Severine Beaudreuil, Xiaomeng Zhang, Florence Herr, Francis Harper, Jean Jacques Candelier, Ye Fan, Hilal Yeter, Caroline Dudreuilh, Lola Lecru, Aime Vazquez, Bernard Charpentier, Hans K. Lorenzo, Antoine Durrbach

PLoS One. 2019; 14(7): e0219353. Published online 2019 Jul 29. doi: 10.1371/journal.pone.0219353

PMCID:: PMC6663006

Article PDF–6.2M

Select item 639127615.

Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction

Leslie E. W. LaConte, Vrushali Chavan, Abdallah F. Elias, Cynthia Hudson, Corbin Schwanke, Katie Styren, Jonathan Shoof, Fernando Kok, Sarika Srivastava, Konark Mukherjee

Hum Genet. Author manuscript; available in PMC 2019 Mar 1.

Published in final edited form as: Hum Genet. 2018 Mar; 137(3): 231–246. Published online 2018 Feb 9. doi: 10.1007/s00439-018-1874-3

PMCID:: PMC6391276

Article PDF–997K

Select item 429433416.

Down-regulation of miR-203 induced by Helicobacter pylori infection promotes the proliferation and invasion of gastric cancer by targeting CASK

Xiaoying Zhou, Guifang Xu, Chengqiang Yin, Wujuan Jin, Guoxin Zhang

Oncotarget. 2014 Nov; 5(22): 11631–11640. Published online 2014 Oct 18. doi: 10.18632/oncotarget.2600

PMCID:: PMC4294334

Article PDF–2.8M

Select item 363337417.

A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus

Rachel J. Watkins, Rajashree Patil, Benjamin T. Goult, Mervyn G. Thomas, Irene Gottlob, Sue Shackleton

Hum Mol Genet. 2013 May 15; 22(10): 2105–2118. Published online 2013 Feb 12. doi: 10.1093/hmg/ddt060

PMCID:: PMC3633374

Article PDF–1.0M

Select item 266800118.

A Missense Mutation in CASK Causes FG Syndrome in an Italian Family

Giulio Piluso, Francesca D'Amico, Valentina Saccone, Ettore Bismuto, Ida Luisa Rotundo, Marina Di Domenico, Stefania Aurino, Charles E. Schwartz, Giovanni Neri, Vincenzo Nigro

Am J Hum Genet. 2009 Feb 13; 84(2): 162–177. doi: 10.1016/j.ajhg.2008.12.018

PMCID:: PMC2668001

Article PDF–2.0M

Select item 891313719.

Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families

Niaz Muhammad Khan, Muhammad Shareef Masoud, Shahid Mahmood Baig, Muhammad Qasim, Junlei Chang

Biomed Res Int. 2022; 2022: 3769948. Published online 2022 Mar 3. doi: 10.1155/2022/3769948

PMCID:: PMC8913137

Article PDF–782K

Select item 678250020.

Regulated Expression and Subcellular Localization of Syndecan Heparan Sulfate Proteoglycans and the Syndecan-Binding Protein CASK/LIN-2 during Rat Brain Development

Yi-Ping Hsueh, Morgan Sheng

J Neurosci. 1999 Sep 1; 19(17): 7415–7425. doi: 10.1523/JNEUROSCI.19-17-07415.1999

PMCID:: PMC6782500

Article PDF–1.9M

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