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Original Article

Connexin 26 mutations in autosomal recessive deafness disorders: A review

Mutaciones de Conexina 26 en condiciones de sordera autosómica recesiva: Una revisión

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Pages 75-81 | Published online: 07 Jul 2009

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Read on this site (4)

Wan Du, Yi Ming Zhu, Yu Fen Guo, Qiu Ju Wang & Xiao Wen Liu. (2014) Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants. Acta Oto-Laryngologica 134:4, pages 373-381.
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Zian Xiao, Zhongchun Yang, Xuezhong Liu & Dinghua Xie. (2011) Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss. Acta Oto-Laryngologica 131:1, pages 59-66.
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Geir Siem, Toril Fagerheim, Christoffer Jonsrud, Claude Laurent, Erik Teig, Sten Harris, Trond P. Leren, Andreas Früh & Ketil Heimdal. (2010) Causes of hearing impairment in the Norwegian paediatric cochlear implant program. International Journal of Audiology 49:8, pages 596-605.
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Eugene A de Zwart-Storm, Patricia E Martin & Maurice AM van Steensel. (2009) Gap junction diseases of the skin: novel insights from new mutations. Expert Review of Dermatology 4:5, pages 455-468.
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Articles from other publishers (28)

Ji Xu & Bruce J. Nicholson. (2023) Divergence between Hemichannel and Gap Junction Permeabilities of Connexin 30 and 26. Life 13:2, pages 390.
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Minqiong Sun, Yuan Li, Jing Qian, Siwei Ding, Mingyu Sun, Bowen Tan & Ye Zhao. (2021) Connexin26 Modulates the Radiosensitivity of Cutaneous Squamous Cell Carcinoma by Regulating the Activation of the MAPK/NF-κB Signaling Pathway. Frontiers in Cell and Developmental Biology 9.
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Swee-Hee Wong, Yung-Chang Yen, Shuan-Yow Li & Jiann-Jou Yang. (2020) Novel Mutations in the TMPRSS3 Gene May Contribute to Taiwanese Patients with Nonsyndromic Hearing Loss. International Journal of Molecular Sciences 21:7, pages 2382.
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Marina Davcheva Chakar, Gjorgji Bozhinovski, Emilija Shukarova Stefanovska & Dejan Trajkov. (2020) Concurrent genetic and standard screening test for hearing reduction. Macedonian Pharmaceutical Bulletin 66:2, pages 35-40.
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Jianfen Luo, Xiaohui Bai, Fengguo Zhang, Yun Xiao, Lintao Gu, Yuechen Han, Zhaomin Fan, Jianfeng Li, Lei Xu & Haibo Wang. (2017) Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China. Annals of Human Genetics 81:6, pages 258-266.
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Viviana Dalamon, Mariana C. Fiori, Vania A. Figueroa, Carolina A. Oliva, Rodrigo del Rio, Wendy Gonzalez, Jonathan Canan, Ana B. Elgoyhen, Guillermo A. Altenberg & Mauricio A. Retamal. (2016) Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness. Pflügers Archiv - European Journal of Physiology 468:5, pages 909-918.
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Michael K G Stewart, Jamie Simek & Dale W Laird. (2015) Insights into the role of connexins in mammary gland morphogenesis and function. REPRODUCTION 149:6, pages R279-R290.
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X Zhuang, J M J Herbert, P Lodhia, J Bradford, A M Turner, P M Newby, D Thickett, U Naidu, D Blakey, S Barry, D A E Cross & R Bicknell. (2014) Identification of novel vascular targets in lung cancer. British Journal of Cancer 112:3, pages 485-494.
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TUNG-CHENG LI, WEN-HUNG WANG, CHUAN LI & JIANN-JOU YANG. (2015) Association between mutations in the gap junction β4 gene and nonsyndromic hearing loss: Genotype-phenotype correlation patterns. Molecular Medicine Reports 11:1, pages 619-624.
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Helmuth A. Sanchez & Vytas K. Verselis. (2014) Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss. Frontiers in Cellular Neuroscience 8.
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Csilla Sipeky, Petra Matyas, Marton Melegh, Ingrid Janicsek, Renata Szalai, Istvan Szabo, Reka Varnai, Greta Tarlos, Alma Ganczer & Bela Melegh. (2014) Lower carrier rate of GJB2 W24X ancestral Indian mutation in Roma samples from Hungary: implication for public health intervention. Molecular Biology Reports 41:9, pages 6105-6110.
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Tung-Cheng LiYu-Hsiang KuanTzu-Yu KoChuan LiJiann-Jou Yang. (2014) Mechanism of a novel missense mutation, p.V174M, of the human connexin31 ( GJB3 ) in causing nonsyndromic hearing loss . Biochemistry and Cell Biology 92:4, pages 251-257.
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Ju Chang-Chien, Yung-Chang Yen, Kuo-Hsuan Chien, Shaun-Yow Li, Tsai-Ching Hsu & Jiann-Jou Yang. (2014) The connexin 30.3 of zebrafish homologue of human connexin 26 may play similar role in the inner ear. Hearing Research 313, pages 55-66.
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Tianbin Chen, Ling Jiang, Can Liu, Hongyan Shan, Jing Chen, Bin Yang & Qishui Ou. (2014) Update of the Spectrum of GJB2 Mutations in 107 Patients with Nonsyndromic Hearing Loss in the Fujian Population of China . Annals of Human Genetics 78:3, pages 235-242.
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Jean-Claude Hervé & Mickaël Derangeon. (2012) Gap-junction-mediated cell-to-cell communication. Cell and Tissue Research 352:1, pages 21-31.
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F. Bootz & R. Lang-Roth. 2013. Pädiatrie. Pädiatrie 851 870 .
Luc Leybaert & Michael J. Sanderson. (2012) Intercellular Ca 2+ Waves: Mechanisms and Function . Physiological Reviews 92:3, pages 1359-1392.
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Wen-Hung Wang, Yu-Fan Liu, Ching-Chyuan Su, Mao-Chang Su, Shuan-Yow Li & Jiann-Jou Yang. (2011) A Novel Missense Mutation in the Connexin30 Causes Nonsyndromic Hearing Loss. PLoS ONE 6:6, pages e21473.
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Jaqueline Medeiros de Mello, Ana Maria Silveira Machado de Moraes, Jeferson Cedaro de Mendonça, Daniela Álvares da Silva, Laise Adriane Hegeto & Valter Augusto Della-Rosa. (2011) Triagem auditiva neonatal: das alterações auditivas à análise molecular. Revista CEFAC 13:5, pages 909-916.
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Soo-Young Choi, Kyu Yup Lee, Hyun-Jin Kim, Hyo-Kyeong Kim, Qing Chang, Hong-Joon Park, Chang-Jin Jeon, Xi Lin, Jinwoong Bok & Un-Kyung Kim. (2011) Functional Evaluation of GJB2 Variants in Nonsyndromic Hearing Loss. Molecular Medicine 17:5-6, pages 550-556.
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Ching-Chyuan Su, Shuan-Yow Li, Mao-Chang Su, Wei-Chi Chen & Jiann-Jou Yang. (2010) Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30. European Journal of Human Genetics 18:9, pages 1061-1064.
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Jiann-Jou Yang, Wen-Hung Wang, Yen-Chun Lin, Hsu-Huei Weng, Jen-Tsung Yang, Chung-Feng Hwang, Che-Min Wu & Shuan-Yow Li. (2010) Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation. Human Genetics 128:3, pages 303-313.
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William J. Kimberling. 2010. Cummings Otolaryngology - Head and Neck Surgery. Cummings Otolaryngology - Head and Neck Surgery 3 10 .
K Yeon Choi, Lisa A. Schimmenti, Anne M. Jurek, Bazak Sharon, Kathy Daly, Cindy Khan, Mark McCann & Mark R. Schleiss. (2009) Detection of Cytomegalovirus DNA in Dried Blood Spots of Minnesota Infants Who Do Not Pass Newborn Hearing Screening. Pediatric Infectious Disease Journal 28:12, pages 1095-1098.
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Jack R. Lee & Thomas W. White. (2009) Connexin-26 mutations in deafness and skin disease. Expert Reviews in Molecular Medicine 11.
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Pasqualina M. Picciotti, Roberta Pietrobono, Giovanni Neri, Gaetano Paludetti, Anna Rita Fetoni, Francesca Cianfrone & Maria Grazia Pomponi. (2008) Correlation between GJB2 mutations and audiological deficits: personal experience. European Archives of Oto-Rhino-Laryngology 266:4, pages 489-494.
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Christian P. Speer & Manfred GahrF. Bootz & R. Lang-Roth. 2009. Pädiatrie. Pädiatrie 839 858 .
O. Gleich, J. Strutz & K. Schmid. (2008) Endolymph-Homöostase und M. MenièreEndolymph homeostasis and Menière’s disease. HNO 56:12, pages 1243-1252.
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