PMC Links for Gene (Select 284403) - PMC

Ryszard Slezak, Robert Smigiel, Ewa Obersztyn, Agnieszka Pollak, Mateusz Dawidziuk, Wojciech Wiszniewski, Monika Bekiesinska-Figatowska, Malgorzata Rydzanicz, Rafal Ploski, Pawel Gawlinski

Genes (Basel) 2021 Apr; 12(4): 594. Published online 2021 Apr 19. doi: 10.3390/genes12040594

PMCID:: PMC8072659

Abstract Article PDF–1.8M

Select item 61505485.

A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family

Muhammad Imran Naseer, Mahmood Rasool, Sameera Sogaty, Rukhaa Adeel Chaudhary, Haifa Mansour Mansour, Adeel G. Chaudhary, Adel M. Abuzenadah, Mohammad H. Al-Qahtani

Ann Saudi Med. 2017 Mar-Apr; 37(2): 148–153. doi: 10.5144/0256-4947.2017.148

PMCID:: PMC6150548

Abstract Article PDF–721K

Select item 60526036.

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report

Imane Cherkaoui Jaouad, Abdelali Zrhidri, Wafaa Jdioui, Jaber Lyahyai, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani

BMC Med Genet. 2018; 19: 118. Published online 2018 Jul 18. doi: 10.1186/s12881-018-0625-6

PMCID:: PMC6052603

Abstract Article PDF–728K

Select item 53466457.

Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2

Santasree Banerjee, Huishuang Chen, Hui Huang, Jing Wu, Zhiyun Yang, Weiping Deng, Dongna Chen, Jianlian Deng, Yan Su, Yang Li, Chao Wu, Ye Wang, Hao Zeng, Yiming Wang, Xunhua Li

Oncotarget. 2016 Nov 29; 7(48): 78363–78371. Published online 2016 Nov 10. doi: 10.18632/oncotarget.13279

PMCID:: PMC5346645

Abstract Article PDF–1.3M

Select item 42258258.

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation

Heba Gamal Farag, Sebastian Froehler, Konrad Oexle, Ethiraj Ravindran, Detlev Schindler, Timo Staab, Angela Huebner, Nadine Kraemer, Wei Chen, Angela M Kaindl

Orphanet J Rare Dis. 2013; 8: 178. Published online 2013 Nov 14. doi: 10.1186/1750-1172-8-178

PMCID:: PMC4225825

Abstract Article PDF–1.5M

Select item 92705769.

WDR62 variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation

Lili Hao, Jing Ma, Feizhen Wu, Xiaojing Ma, Maoxiang Qian, Wei Sheng, Tizhen Yan, Ning Tang, Xin Jiang, Bowen Zhang, Deyong Xiao, Yanyan Qian, Jin Zhang, Nan Jiang, Wenhao Zhou, Weicheng Chen, Duan Ma, Guoying Huang

Clin Transl Med. 2022 Jul; 12(7): e941. Published online 2022 Jul 8. doi: 10.1002/ctm2.941

PMCID:: PMC9270576

Abstract Article PDF–4.3M

Select item 832238610.

An integrated functional and clinical genomics approach reveals genes driving aggressive metastatic prostate cancer

Rajdeep Das, Martin Sjöström, Raunak Shrestha, Christopher Yogodzinski, Emily A. Egusa, Lisa N. Chesner, William S. Chen, Jonathan Chou, Donna K. Dang, Jason T. Swinderman, Alex Ge, Junjie T. Hua, Shaheen Kabir, David A. Quigley, Eric J. Small, Alan Ashworth, Felix Y. Feng, Luke A. Gilbert

Nat Commun. 2021; 12: 4601. Published online 2021 Jul 29. doi: 10.1038/s41467-021-24919-7

PMCID:: PMC8322386

Abstract Article PDF–2.7M

Select item 824085711.

WDR62 localizes katanin at spindle poles to ensure synchronous chromosome segregation

Amanda Guerreiro, Filipe De Sousa, Nicolas Liaudet, Daria Ivanova, Anja Eskat, Patrick Meraldi

J Cell Biol. 2021 Aug 2; 220(8): e202007171. Published online 2021 Jun 17. doi: 10.1083/jcb.202007171

PMCID:: PMC8240857

Abstract Article PDF–6.2M

Select item 460823112.

Variants in CUL4B are Associated with Cerebral Malformations

Anneke T. Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi-Buisson, Stefan A. Haas, Hao Hu, Melanie Bienek, Lisenka E.L.M. Vissers, Christian Gilissen, Andreas Tzschach, Andreas Busche, Jörg Müsebeck, Patrick Rump, Inge B. Mathijssen, Kristiina Avela, Mirja Somer, Fatma Doagu, Anju K. Philips, Anita Rauch, Alessandra Baumer, Krysta Voesenek, Karine Poirier, Jacqueline Vigneron, Daniel Amram, Sylvie Odent, Magdalena Nawara, Ewa Obersztyn, Jacek Lenart, Agnieszka Charzewska, Nicolas Lebrun, Ute Fischer, Willy M. Nillesen, Helger G. Yntema, Irma Järvelä, Hans-Hilger Ropers, Bert B.A. de Vries, Han G. Brunner, Hans van Bokhoven, F. Lucy Raymond, Michèl A.A.P. Willemsen, Jamel Chelly, Yue Xiong, A. James Barkovich, Vera M. Kalscheuer, Tjitske Kleefstra, Arjan P.M. de Brouwer

Hum Mutat. Author manuscript; available in PMC 2015 Oct 16.

Published in final edited form as: Hum Mutat. 2015 Jan; 36(1): 106–117. doi: 10.1002/humu.22718

PMCID:: PMC4608231

Abstract Article PDF–892K

Select item 361676513.

Whole-Exome Sequencing Identifies Compound Heterozygous Mutations in WDR62 in Siblings With Recurrent Polymicrogyria

David R. Murdock, Gary D. Clark, Matthew N. Bainbridge, Irene Newsham, Yuan-Qing Wu, Donna M. Muzny, Sau Wai Cheung, Richard A. Gibbs, Melissa B. Ramocki

Am J Med Genet A. Author manuscript; available in PMC 2013 Apr 4.

Published in final edited form as: Am J Med Genet A. 2011 Sep; 0(9): 2071–2077. Published online 2011 Aug 10. doi: 10.1002/ajmg.a.34165

PMCID:: PMC3616765

Abstract Article PDF–1.4M

Select item 319670214.

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly

Rizwana Kousar, Muhammad Jawad Hassan, Bushra Khan, Sulman Basit, Saqib Mahmood, Asif Mir, Wasim Ahmad, Muhammad Ansar

BMC Neurol. 2011; 11: 119. Published online 2011 Oct 1. doi: 10.1186/1471-2377-11-119

PMCID:: PMC3196702

Abstract Article PDF–9.4M

Select item 296985015.

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

Timothy W. Yu, Ganeshwaran H. Mochida, David J. Tischfield, Sema K. Sgaier, Laura Flores-Sarnat, Consolato M. Sergi, Meral Topçu, Marie T. McDonald, Brenda J. Barry, Jillian Felie, Christine Sunu, William B. Dobyns, Rebecca D. Folkerth, A. James Barkovich, Christopher A. Walsh

Nat Genet. Author manuscript; available in PMC 2011 May 1.

Published in final edited form as: Nat Genet. 2010 Nov; 42(11): 1015–1020. Published online 2010 Oct 3. doi: 10.1038/ng.683

PMCID:: PMC2969850

Abstract Article PDF–2.2M

Select item 623306316.

WDR62 mediates TNFα-dependent JNK activation via TRAF2-MLK3 axis

Elad Prinz, Sharon Aviram, Ami Aronheim

Mol Biol Cell. 2018 Oct 1; 29(20): 2470–2480. doi: 10.1091/mbc.E17-08-0504

PMCID:: PMC6233063

Abstract Article PDF–2.1M

Select item 359163717.

Identification and Analysis of a Novel Dimerization Domain Shared by Various Members of c-Jun N-terminal Kinase (JNK) Scaffold Proteins

Ksenya Cohen-Katsenelson, Tanya Wasserman, Ilona Darlyuk-Saadon, Alona Rabner, Fabian Glaser, Ami Aronheim

J Biol Chem. 2013 Mar 8; 288(10): 7294–7304. Published online 2013 Jan 22. doi: 10.1074/jbc.M112.422055

PMCID:: PMC3591637

Abstract Article PDF–2.1M

Select item 346261018.

Docking interactions of the JNK scaffold protein WDR62

Ksenya Cohen-Katsenelson, Tanya Wasserman, Samer Khateb, Alan J. Whitmarsh, Ami Aronheim

Biochem J. 2011 Nov 1; 439(Pt 3): 381–390. Prepublished online 2011 Jul 13. Published online 2011 Oct 13. doi: 10.1042/BJ20110284

PMCID:: PMC3462610

Abstract Article PDF–1.0M

Select item 312900719.

Whole exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Kaya Bilgüvar, Ali Kemal Öztürk, Angeliki Louvi, Kenneth Y Kwan, Murim Choi, Burak Tatli, Dilek Yalnizoglu, Beyhan Tüysüz, Ahmet Okay Çaglayan, Sarenur Gökben, Hande Kaymakçalan, Tanyeri Barak, Mehmet Bakircioglu, Katsuhito Yasuno, Winson Ho, Stephan Sanders, Ying Zhu, Sanem Yilmaz, Alp Dinçer, Michele H Johnson, Richard A Bronen, Naci Koçer, Hüseyin Per, Shrikant Mane, Mehmet Necmettin Pamir, Cengiz Yalçinkaya, Sefer Kumandas, Meral Topçu, Meral Özmen, Nenad Šestan, Richard P Lifton, Matthew W State, Murat Günel

Nature. Author manuscript; available in PMC 2011 Jul 4.

Published in final edited form as: Nature. 2010 Sep 9; 467(7312): 207–210. Published online 2010 Aug 22. doi: 10.1038/nature09327

PMCID:: PMC3129007

Abstract Article PDF–999K

Select item 656562020.

Modeling microcephaly with cerebral organoids reveals a WDR62–CEP170–KIF2A pathway promoting cilium disassembly in neural progenitors

Wei Zhang, Si-Lu Yang, Mei Yang, Stephanie Herrlinger, Qiang Shao, John L. Collar, Edgar Fierro, Yanhong Shi, Aimin Liu, Hui Lu, Bruce E. Herring, Ming-Lei Guo, Shilpa Buch, Zhen Zhao, Jian Xu, Zhipeng Lu, Jian-Fu Chen

Nat Commun. 2019; 10: 2612. Published online 2019 Jun 13. doi: 10.1038/s41467-019-10497-2

PMCID:: PMC6565620

Abstract Article PDF–6.1M

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