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Select item 17356851.

A genotype-phenotype correlation for GJB2 (connexin 26) deafness

K Cryns, E Orzan, A Murgia, P Huygen, F Moreno, I del Castillo, C Parker, H Azaiez, S Prasad, R Cucci, E Leonardi, R Snoeckx, P Govaerts, P H Van de Heyning, C M Van de Heyning, R Smith, G Van Camp

J Med Genet. 2004 Mar; 41(3): 147–154. doi: 10.1136/jmg.2003.013896

PMCID:: PMC1735685

Summary PDF–429K

Select item 88691672.

Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population

Georgii P. Romanov, Anna A. Smirnova, Vladimir I. Zamyatin, Aleksey M. Mukhin, Fedor V. Kazantsev, Vera G. Pshennikova, Fedor M. Teryutin, Aisen V. Solovyev, Sardana A. Fedorova, Olga L. Posukh, Sergey A. Lashin, Nikolay A. Barashkov

Biology (Basel) 2022 Feb; 11(2): 257. Published online 2022 Feb 7. doi: 10.3390/biology11020257

PMCID:: PMC8869167

Abstract Article PDF–1.1M

Select item 64461073.

Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)

Vera G. Pshennikova, Nikolay A. Barashkov, Georgii P. Romanov, Fedor M. Teryutin, Aisen V. Solov'ev, Nyurgun N. Gotovtsev, Alena A. Nikanorova, Sergey S. Nakhodkin, Nikolay N. Sazonov, Igor V. Morozov, Alexander A. Bondar, Lilya U. Dzhemileva, Elza K. Khusnutdinova, Olga L. Posukh, Sardana A. Fedorova

ScientificWorldJournal. 2019; 2019: 5198931. Published online 2019 Mar 20. doi: 10.1155/2019/5198931

PMCID:: PMC6446107

Abstract Article PDF–1.1M

Select item 59167544.

Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness

Meirav Sokolov, Zippora Brownstein, Moshe Frydman, Karen B. Avraham

J Basic Clin Physiol Pharmacol. Author manuscript; available in PMC 2018 Apr 25.

Published in final edited form as: J Basic Clin Physiol Pharmacol. 2014 Sep; 25(3): 289–292. doi: 10.1515/jbcpp-2014-0053

PMCID:: PMC5916754

Abstract Article PDF–173K

Select item 106049055.

Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains

Olga L. Posukh, Ekaterina A. Maslova, Valeriia Yu. Danilchenko, Marina V. Zytsar, Konstantin E. Orishchenko

Biomolecules. 2023 Oct; 13(10): 1521. Published online 2023 Oct 13. doi: 10.3390/biom13101521

PMCID:: PMC10604905

Abstract Article PDF–2.5M

Select item 102186096.

The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)

Vera G. Pshennikova, Fedor M. Teryutin, Alexandra M. Cherdonova, Tuyara V. Borisova, Aisen V. Solovyev, Georgii P. Romanov, Igor V. Morozov, Alexander A. Bondar, Olga L. Posukh, Sardana A. Fedorova, Nikolay A. Barashkov

Genes (Basel) 2023 May; 14(5): 1001. Published online 2023 Apr 28. doi: 10.3390/genes14051001

PMCID:: PMC10218609

Abstract Article PDF–2.1M

Select item 101829407.

The pathogenesis of common Gjb2 mutations associated with human hereditary deafness in mice

Qing Li, Chong Cui, Rongyu Liao, Xidi Yin, Daqi Wang, Yanbo Cheng, Bowei Huang, Liqin Wang, Meng Yan, Jinan Zhou, Jingjing Zhao, Wei Tang, Yingyi Wang, Xiaohan Wang, Jun Lv, Jinsong Li, Huawei Li, Yilai Shu

Cell Mol Life Sci. 2023 Jun; 80(6): 148. Published online 2023 May 13. doi: 10.1007/s00018-023-04794-9

PMCID:: PMC10182940

Abstract Article PDF–2.9M

Select item 66271148.

Unique Mutational Spectrum of the GJB2 Gene and Its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys)

Olga L. Posukh, Marina V. Zytsar, Marita S. Bady-Khoo, Valeria Yu. Danilchenko, Ekaterina A. Maslova, Nikolay A. Barashkov, Alexander A. Bondar, Igor V. Morozov, Vladimir N. Maximov, Michael I. Voevoda

Genes (Basel) 2019 Jun; 10(6): 429. Published online 2019 Jun 5. doi: 10.3390/genes10060429

PMCID:: PMC6627114

Abstract Article PDF–1.2M

Select item 91244699.

Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example

Yuqi Yang, Yu Wang, Lingna Zhou, Wei Long, Bin Yu, Huaiyan Wang

Appl Clin Genet. 2022; 15: 39–48. Published online 2022 May 18. doi: 10.2147/TACG.S362148

PMCID:: PMC9124469

Abstract Article PDF–1.0M

Select item 352157710.

The role of connexins in ear and skin physiology – functional insights from disease-associated mutations

Ji Xu, Bruce J. Nicholson

Biochim Biophys Acta. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: Biochim Biophys Acta. 2013 Jan; 1828(1): 167–178. Published online 2012 Jul 13. doi: 10.1016/j.bbamem.2012.06.024

PMCID:: PMC3521577

Abstract Article PDF–927K

Select item 125769211.

Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions

Yanping Zhang, Wenxue Tang, Shoab Ahmad, James A. Sipp, Ping Chen, Xi Lin

Proc Natl Acad Sci U S A. 2005 Oct 18; 102(42): 15201–15206. Published online 2005 Oct 10. doi: 10.1073/pnas.0501859102

PMCID:: PMC1257692

Abstract Article PDF–847K

Select item 325918712.

Early developmental expression of connexin26 in the cochlea contributes to its dominate functional role in the cochlear gap junctions

Yan Qu, Wenxue Tang, Binfei Zhou, Shoeb Ahmad, Qing Chang, Xi Lin

Biochem Biophys Res Commun. Author manuscript; available in PMC 2013 Jan 6.

Published in final edited form as: Biochem Biophys Res Commun. 2012 Jan 6; 417(1): 245–250. Published online 2011 Nov 28. doi: 10.1016/j.bbrc.2011.11.093

PMCID:: PMC3259187

Abstract Article PDF–530K

Select item 303570413.

Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

Guntram Borck, Atteeq Ur Rehman, Kwanghyuk Lee, Hans-Martin Pogoda, Naseebullah Kakar, Simon von Ameln, Nicolas Grillet, Michael S. Hildebrand, Zubair M. Ahmed, Gudrun Nürnberg, Muhammad Ansar, Sulman Basit, Qamar Javed, Robert J. Morell, Nabilah Nasreen, A. Eliot Shearer, Adeel Ahmad, Kimia Kahrizi, Rehan S. Shaikh, Rana A. Ali, Shaheen N. Khan, Ingrid Goebel, Nicole C. Meyer, William J. Kimberling, Jennifer A. Webster, Dietrich A. Stephan, Martin R. Schiller, Melanie Bahlo, Hossein Najmabadi, Peter G. Gillespie, Peter Nürnberg, Bernd Wollnik, Saima Riazuddin, Richard J.H. Smith, Wasim Ahmad, Ulrich Müller, Matthias Hammerschmidt, Thomas B. Friedman, Sheikh Riazuddin, Suzanne M. Leal, Jamil Ahmad, Christian Kubisch

Am J Hum Genet. 2011 Feb 11; 88(2): 127–137. doi: 10.1016/j.ajhg.2010.12.011

PMCID:: PMC3035704

Abstract Article PDF–1.0M

Select item 279500214.

DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3

Shahid Yar Khan, Saima Riazuddin, Mohsin Shahzad, Nazir Ahmed, Ahmad Usman Zafar, Atteeq Ur Rehman, Robert J Morell, Andrew J Griffith, Zubair M Ahmed, Sheikh Riazuddin, Thomas B Friedman

Eur J Hum Genet. 2010 Jan; 18(1): 125–129. Published online 2009 Jul 15. doi: 10.1038/ejhg.2009.121

PMCID:: PMC2795002

Abstract Article PDF–481K

Select item 260524815.

Gap Junction Mediated Intercellular Metabolite Transfer in the Cochlea Is Compromised in Connexin30 Null Mice

Qing Chang, Wenxue Tang, Shoeb Ahmad, Binfei Zhou, Xi Lin

PLoS One. 2008; 3(12): e4088. Published online 2008 Dec 31. doi: 10.1371/journal.pone.0004088

PMCID:: PMC2605248

Abstract Article PDF–738K

Select item 191473216.

An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds.

D. A. Scott, R. Carmi, K. Elbedour, S. Yosefsberg, E. M. Stone, V. C. Sheffield

Am J Hum Genet. 1996 Aug; 59(2): 385–391.

PMCID:: PMC1914732

Summary Page Browse PDF–1.1M

Select item 1112145417.

The Segregation of p.Arg68Ter-CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene

Abdelaziz Tlili, Abdullah Al Mutery, Jihen Chouchen

Genes (Basel) 2024 May; 15(5): 588. Published online 2024 May 6. doi: 10.3390/genes15050588

PMCID:: PMC11121454

Abstract Article PDF–1.3M

Select item 417812218.

Deficiency of Transcription Factor Brn4 Disrupts Cochlear Gap Junction Plaques in a Model of DFN3 Non-Syndromic Deafness

Yoshinobu Kidokoro, Keiko Karasawa, Osamu Minowa, Yoshinobu Sugitani, Tetsuo Noda, Katsuhisa Ikeda, Kazusaku Kamiya

PLoS One. 2014; 9(9): e108216. Published online 2014 Sep 26. doi: 10.1371/journal.pone.0108216

PMCID:: PMC4178122

Abstract Article PDF–14M

Select item 430224619.

DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics

B Vona, MAH Hofrichter, C Neuner, J Schröder, A Gehrig, JB Hennermann, F Kraus, W Shehata-Dieler, E Klopocki, I Nanda, T Haaf

Clin Genet. 2015 Jan; 87(1): 49–55. Published online 2014 Jan 21. doi: 10.1111/cge.12332

PMCID:: PMC4302246

Abstract Article PDF–1.5M

Select item 453410520.

Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population

So Young Kim, Ah Reum Kim, Nayoung K D Kim, Min Young Kim, Eun-Hee Jeon, Bong Jik Kim, Young Eun Han, Mun Young Chang, Woong-Yang Park, Byung Yoon Choi

J Transl Med. 2015; 13: 263. Published online 2015 Aug 13. doi: 10.1186/s12967-015-0624-8

PMCID:: PMC4534105

Abstract Article PDF–3.3M

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