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Select item 111214541.

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

Article PDF–1.3M

Select item 106049052.

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

Article PDF–2.5M

Select item 102186093.

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

Article PDF–2.1M

Select item 101829404.

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

Article PDF–2.9M

Select item 98939065.

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania

Nika Petrova, Inna Tebieva, Vitaly Kadyshev, Zalina Getoeva, Natalia Balinova, Andrey Marakhonov, Tatyana Vasilyeva, Evgeny Ginter, Sergey Kutsev, Rena Zinchenko

PeerJ. 2023; 11: e14514. Published online 2023 Jan 30. doi: 10.7717/peerj.14514

PMCID:: PMC9893906

Article PDF–1016K

Select item 98250256.

Analysis of Serum Inflammatory Markers in Infants Under 6 Months of Age with Non-Syndromic Moderate and Severe Hearing Loss Associated with GJB2 Gene Mutations

Xingang Zhang, Zhaoxin Ma, Jishan Zheng, Huiqing Xu, Jiewen Pan, Lanqiu Lv

Med Sci Monit. 2023; 29: e938165-1–e938165-12. Prepublished online 2022 Dec 9. Published online 2023 Jan 3. doi: 10.12659/MSM.938165

PMCID:: PMC9825025

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Select item 91244697.

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

Article PDF–1.0M

Select item 88691678.

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

Article PDF–1.1M

Select item 88116759.

Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population

Anwar Madlool Al-janabi, Habeeb Shuhaib Ahmmed, Salih Mahdi Al-Khafaji

J Med Life. 2021 Nov-Dec; 14(6): 841–846. doi: 10.25122/jml-2021-0152

PMCID:: PMC8811675

Article PDF–613K

Select item 839134210.

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss

Roxane Van Heurck, Maria Teresa Carminho-Rodrigues, Emmanuelle Ranza, Caterina Stafuzza, Lina Quteineh, Corinne Gehrig, Eva Hammar, Michel Guipponi, Marc Abramowicz, Pascal Senn, Nils Guinand, Helene Cao-Van, Ariane Paoloni-Giacobino

Genes (Basel) 2021 Aug; 12(8): 1277. Published online 2021 Aug 20. doi: 10.3390/genes12081277

PMCID:: PMC8391342

Article PDF–1.2M

Select item 662711411.

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

Article PDF–1.2M

Select item 644610712.

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

Article PDF–1.1M

Select item 591675413.

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

Article PDF–173K

Select item 490823414.

Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness

Sedigheh Delmaghani, Asadollah Aghaie, Yosra Bouyacoub, Hala El Hachmi, Crystel Bonnet, Zied Riahi, Sebastien Chardenoux, Isabelle Perfettini, Jean-Pierre Hardelin, Ahmed Houmeida, Philippe Herbomel, Christine Petit

Am J Hum Genet. 2016 Jun 2; 98(6): 1266–1270. Published online 2016 Jun 2. doi: 10.1016/j.ajhg.2016.04.015

PMCID:: PMC4908234

Article PDF–1.6M

Select item 453410515.

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

Article PDF–3.3M

Select item 430224616.

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

Article PDF–1.5M

Select item 417812217.

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

Article PDF–14M

Select item 352157718.

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

Article PDF–927K

Select item 325918719.

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