PMC Articles for MedGen (Select 332149) - PMC

Select item 35012591.

Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

Saima Riazuddin, Inna A. Belyantseva, Arnaud Giese, Kwanghyuk Lee, Artur A. Indzhykulian, Sri Pratima Nandamuri, Rizwan Yousaf, Ghanshyam P. Sinha, Sue Lee, David Terrell, Rashmi S. Hegde, Rana A. Ali, Saima Anwar, Paula B. Andrade-Elizondo, Asli Sirmaci, Leslie V. Parise, Sulman Basit, Abdul Wali, Muhammad Ayub, Muhammad Ansar, Wasim Ahmad, Shaheen N. Khan, Javed Akram, Mustafa Tekin, Sheikh Riazuddin, Tiffany Cook, Elke K. Buschbeck, Gregory I. Frolenkov, Suzanne M. Leal, Thomas B. Friedman, Zubair M. Ahmed

Nat Genet. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: Nat Genet. 2012 Nov; 44(11): 1265–1271. Published online 2012 Sep 30. doi: 10.1038/ng.2426

PMCID:: PMC3501259

Article PDF–1.9M

Select item 57097262.

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

Vincent Michel, Kevin T Booth, Pranav Patni, Matteo Cortese, Hela Azaiez, Amel Bahloul, Kimia Kahrizi, Ménélik Labbé, Alice Emptoz, Andrea Lelli, Julie Dégardin, Typhaine Dupont, Asadollah Aghaie, Danuta Oficjalska‐Pham, Serge Picaud, Hossein Najmabadi, Richard J Smith, Michael R Bowl, Steven DM Brown, Paul Avan, Christine Petit, Aziz El‐Amraoui

EMBO Mol Med. 2017 Dec; 9(12): 1711–1731. Published online 2017 Dec 1. doi: 10.15252/emmm.201708087

PMCID:: PMC5709726

Article PDF–6.0M

Select item 53408533.

Advances in genetic hearing loss: CIB2 gene

Agnieszka Jacoszek, Agnieszka Pollak, Rafał Płoski, Monika Ołdak

Eur Arch Otorhinolaryngol. 2017; 274(4): 1791–1795. Published online 2016 Oct 22. doi: 10.1007/s00405-016-4330-9

PMCID:: PMC5340853

Article PDF–473K

Select item 49298764.

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

Celia Zazo Seco, Arnaud P Giese, Sobia Shafique, Margit Schraders, Anne M M Oonk, Mike Grossheim, Jaap Oostrik, Tim Strom, Rashmi Hegde, Erwin van Wijk, Gregory I Frolenkov, Maleeha Azam, Helger G Yntema, Rolien H Free, Saima Riazuddin, Joke B G M Verheij, Ronald J Admiraal, Raheel Qamar, Zubair M Ahmed, Hannie Kremer

Eur J Hum Genet. 2016 Apr; 24(4): 542–549. Published online 2015 Jul 15. doi: 10.1038/ejhg.2015.157

PMCID:: PMC4929876

Article PDF–1.3M

Select item 26735435.

USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23

Zubair M Ahmed, Saima Riazuddin, Shaheen N Khan, Penelope L Friedman, Sheikh Riazuddin, Thomas B Friedman

Clin Genet. Author manuscript; available in PMC 2009 Apr 27.

Published in final edited form as: Clin Genet. 2009 Jan; 75(1): 86–91. Published online 2008 May 25. doi: 10.1111/j.1399-0004.2008.01038.x

PMCID:: PMC2673543

Article PDF–956K

Select item 58518216.

Variants in CIB2 cause DFNB48 and not USH1J

Kevin T Booth, Kimia Kahrizi, Mojgan Babanejad, Hossein Daghagh, Guney Bademci, Sanaz Arzhangi, Davood Zareabdollahi, Duygu Duman, Aziz El-Amraoui, Mustafa Tekin, Hossein Najmabadi, Hela Azaiez, Richard J Smith

Clin Genet. Author manuscript; available in PMC 2019 Apr 1.

Published in final edited form as: Clin Genet. 2018 Apr; 93(4): 812–821. Published online 2018 Feb 12. doi: 10.1111/cge.13170

PMCID:: PMC5851821

Article PDF–1.2M

Select item 57228437.

Loss of CIB2 Causes Profound Hearing Loss and Abolishes Mechanoelectrical Transduction in Mice

Yanfei Wang, Jie Li, Xuerui Yao, Wei Li, Haibo Du, Mingliang Tang, Wei Xiong, Renjie Chai, Zhigang Xu

Front Mol Neurosci. 2017; 10: 401. Published online 2017 Dec 4. doi: 10.3389/fnmol.2017.00401

PMCID:: PMC5722843

Article PDF–5.8M

Select item 42209138.

KCNJ10 May Not Be a Contributor to Nonsyndromic Enlargement of Vestibular Aqueduct (NSEVA) in Chinese Subjects

Jiandong Zhao, Yongyi Yuan, Shasha Huang, Bangqing Huang, Jing Cheng, Dongyang Kang, Guojian Wang, Dongyi Han, Pu Dai

PLoS One. 2014; 9(11): e108134. Published online 2014 Nov 5. doi: 10.1371/journal.pone.0108134

PMCID:: PMC4220913

Article PDF–221K

Select item 39940789.

Genetic Analysis of Genes Related to Tight Junction Function in the Korean Population with Non-Syndromic Hearing Loss

Min-A Kim, Ye-Ri Kim, Borum Sagong, Hyun-Ju Cho, Jae Woong Bae, Jeongho Kim, Jinwook Lee, Hong-Joon Park, Jae Young Choi, Kyu-Yup Lee, Un-Kyung Kim

PLoS One. 2014; 9(4): e95646. Published online 2014 Apr 21. doi: 10.1371/journal.pone.0095646

PMCID:: PMC3994078

Article PDF–2.3M

Select item 308043310.

Vestibular Dysfunction in DFNB1 deafness

Kelley M Dodson, Susan H Blanton, Katherine O Welch, Virginia W Norris, Regina L Nuzzo, Jacob A. Wegelin, Ruth S Marin, Walter E Nance, Arti Pandya, Kathleen S Arnos

Am J Med Genet A. Author manuscript; available in PMC 2012 May 1.

Published in final edited form as: Am J Med Genet A. 2011 May; 155(5): 993–1000. Published online 2011 Apr 4. doi: 10.1002/ajmg.a.33828

PMCID:: PMC3080433

Article PDF–317K

Select item 128517811.

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Rikkert L. Snoeckx, Patrick L. M. Huygen, Delphine Feldmann, Sandrine Marlin, Françoise Denoyelle, Jaroslaw Waligora, Malgorzata Mueller-Malesinska, Agneszka Pollak, Rafal Ploski, Alessandra Murgia, Eva Orzan, Pierangela Castorina, Umberto Ambrosetti, Ewa Nowakowska-Szyrwinska, Jerzy Bal, Wojciech Wiszniewski, Andreas R. Janecke, Doris Nekahm-Heis, Pavel Seeman, Olga Bendova, Margaret A. Kenna, Anna Frangulov, Heidi L. Rehm, Mustafa Tekin, Armagan Incesulu, Hans-Henrik M. Dahl, Desirée du Sart, Lucy Jenkins, Deirdre Lucas, Maria Bitner-Glindzicz, Karen B. Avraham, Zippora Brownstein, Ignacio del Castillo, Felipe Moreno, Nikolaus Blin, Markus Pfister, Istvan Sziklai, Timea Toth, Philip M. Kelley, Edward S. Cohn, Lionel Van Maldergem, Pascale Hilbert, Anne-Françoise Roux, Michel Mondain, Lies H. Hoefsloot, Cor W. R. J. Cremers, Tuija Löppönen, Heikki Löppönen, Agnete Parving, Karen Gronskov, Iris Schrijver, Joseph Roberson, Francesca Gualandi, Alessandro Martini, Geneviève Lina-Granade, Nathalie Pallares-Ruiz, Céu Correia, Graça Fialho, Kim Cryns, Nele Hilgert, Paul Van de Heyning, Carla J. Nishimura, Richard J. H. Smith, Guy Van Camp

Am J Hum Genet. 2005 Dec; 77(6): 945–957. Published online 2005 Oct 19. doi: 10.1086/497996

PMCID:: PMC1285178

Article PDF–832K

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