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Results for
""Connexin 26""[mesh_terms]

15 Results

Searching titles within these results

Connexins, hearing and deafness: clinical aspects of mutations in the connexin 26 gene.

P P Lefebvre, T R Van De Water

Brain research. Brain research reviews 2000;32(1):159-62

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

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

Biomolecules 2023;13(10):1521

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Connexin disorders of the ear, skin, and lens.

Dwan A Gerido, Thomas W White

Biochimica et biophysica acta 2004;1662(1-2):159-70

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Gap junction hemichannel interactions with zwitterionic lipid, anionic lipid, and cholesterol: molecular simulation studies.

Irene Yarovsky, Andrew Hung

Biochemistry 2011;50(9):1492-504

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Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation.

Alessandro Terrinoni, Andrea Codispoti, Valeria Serra, Biagio Didona, Ernesto Bruno, Robert Nisticò, Michela Giustizieri, Marco Alessandrini, Elena Campione, Gerry Melino

Biochemical and biophysical research communications 2010;394(4):909-14

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CO2 carbamylation of proteins as a mechanism in physiology.

Louise Meigh

Biochemical Society transactions 2016;43(3):460-4

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Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.

Amber Mahmood, Hina Shaikh, Ali M Waryah, Ashok K Narsani, Muhammad Iqbal, Mohsin Shahzad, Yar M Waryah, Naila Shaikh

Biochemical genetics 2017;55(5-6):410-420

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Connexin-26 mutations in deafness and skin disease.

Thomas W White, Jack R Lee

Expert reviews in molecular medicine 2010;11():e35

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The structural context of disease-causing mutations in gap junctions.

Sarel J Fleishman, Adi D Sabag, Eran Ophir, Karen B Avraham, Nir Ben-Tal

The Journal of biological chemistry 2006;281(39):28958-63

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Permeation pathway of homomeric connexin 26 and connexin 30 channels investigated by molecular dynamics.

Francesco Zonta, Guido Polles, Fabio Mammano, Giuseppe Zanotti

Journal of biomolecular structure & dynamics 2012;29(5):985-98

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The A818-6 system as an in-vitro model for studying the role of the transportome in pancreatic cancer.

Anna Trauzold, Holger Kalthoff, Doaa Tawfik, Angela Zaccagnino, Alexander Bernt, Monika Szczepanowski, Wolfram Klapper, Albrecht Schwab

BMC cancer 2020;20(1):264

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Association between the p.V37I variant of GJB2 and hearing loss: a pedigree and meta-analysis.

Na Shen, Jing Peng, Xiong Wang, Yaowu Zhu, Weiyong Liu, Aiguo Liu, Yanjun Lu

Oncotarget 2018;8(28):46681-46690

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Meta-analysis of GJB2 mutation 35delG frequencies in Europe.

G Lucotte, G Mercier

Genetic testing 2002;5(2):149-52

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Altered expression pattern of molecular factors involved in colonic smooth muscle functions: an immunohistochemical study in patients with diverticular disease.

Letizia Mattii, Chiara Ippolito, Cristina Segnani, Barbara Battolla, Rocchina Colucci, Amelio Dolfi, Gabrio Bassotti, Corrado Blandizzi, Nunzia Bernardini

PloS one 2013;8(2):e57023

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Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss.

Alessandro Ferraris, Eric Rappaport, Rosa Santacroce, Eleanor Pollak, Ian Krantz, Stephen Toth, Frida Lysholm, Maurizio Margaglione, Gabriella Restagno, Bruno Dallapiccola, Saul Surrey, Paolo Fortina

Human mutation 2003;20(4):312-20

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Results: 1 – 15 / 15

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Results for ""Connexin 26""[mesh_terms]

Connexins, hearing and deafness: clinical aspects of mutations in the connexin 26 gene.

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

Connexin disorders of the ear, skin, and lens.

Gap junction hemichannel interactions with zwitterionic lipid, anionic lipid, and cholesterol: molecular simulation studies.

Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation.

CO2 carbamylation of proteins as a mechanism in physiology.

Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.

Connexin-26 mutations in deafness and skin disease.

The structural context of disease-causing mutations in gap junctions.

Permeation pathway of homomeric connexin 26 and connexin 30 channels investigated by molecular dynamics.

The A818-6 system as an in-vitro model for studying the role of the transportome in pancreatic cancer.

Association between the p.V37I variant of GJB2 and hearing loss: a pedigree and meta-analysis.

Meta-analysis of GJB2 mutation 35delG frequencies in Europe.

Altered expression pattern of molecular factors involved in colonic smooth muscle functions: an immunohistochemical study in patients with diverticular disease.

Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss.

Results for
""Connexin 26""[mesh_terms]