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Select item 74461341.

A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia

Yi Zhan, Shuaihantian Luo, Zixin Pi, Guiying Zhang

Hereditas. 2020; 157: 34. Published online 2020 Aug 25. doi: 10.1186/s41065-020-00148-8

PMCID:: PMC7446134

Abstract Article PDF–925K

Select item 68979262.

Evidence of decreased gap junction coupling between astrocytes and oligodendrocytes in the anterior cingulate cortex of depressed suicides

Arnaud Tanti, Pierre-Eric Lutz, John Kim, Liam O’Leary, Jean-François Théroux, Gustavo Turecki, Naguib Mechawar

Neuropsychopharmacology. 2019 Nov; 44(12): 2099–2111. Published online 2019 Aug 2. doi: 10.1038/s41386-019-0471-z

PMCID:: PMC6897926

Abstract Article PDF–1.8M

Select item 60658153.

Mechanistic effect of the human GJB6 gene and its mutations in HaCaT cell proliferation and apoptosis

Yuting Lu, Ruili Zhang, Zhenying Wang, Shuhua Zhou, Yali Song, Lamei Chen, Nan Chen, Wenmin Liu, Canan Ji, Wangli Wu, Li Zhang

Braz J Med Biol Res. 2018; 51(9): e7560. Published online 2018 Jul 23. doi: 10.1590/1414-431X20187560

PMCID:: PMC6065815

Abstract Article PDF–2.5M

Select item 44830984.

Connexin 30 expression inhibits growth of human malignant gliomas but protects them against radiation therapy

Maria Artesi, Jerome Kroonen, Markus Bredel, Minh Nguyen-Khac, Manuel Deprez, Laurent Schoysman, Christophe Poulet, Arnab Chakravarti, Hyunsoo Kim, Denise Scholtens, Tatjana Seute, Bernard Rogister, Vincent Bours, Pierre A. Robe

Neuro Oncol. 2015 Mar; 17(3): 392–406. Published online 2014 Aug 25. doi: 10.1093/neuonc/nou215

PMCID:: PMC4483098

Abstract Article PDF–1.1M

Select item 43030375.

Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population

Rosemary I. Kabahuma, Xiaomei Ouyang, Li Lin Du, Denise Yan, Tim Hutchin, Michele Ramsay, Claire Penn, Xue-Zhong Liu

Int J Pediatr Otorhinolaryngol. Author manuscript; available in PMC 2015 Jan 22.

Published in final edited form as: Int J Pediatr Otorhinolaryngol. 2011 May; 75(5): 611–617. Published online 2011 Mar 9. doi: 10.1016/j.ijporl.2011.01.029

PMCID:: PMC4303037

Abstract Article PDF–424K

Select item 31233526.

A Novel Missense Mutation in the Connexin30 Causes Nonsyndromic Hearing Loss

Wen-Hung Wang, Yu-Fan Liu, Ching-Chyuan Su, Mao-Chang Su, Shuan-Yow Li, Jiann-Jou Yang

PLoS One. 2011; 6(6): e21473. Published online 2011 Jun 24. doi: 10.1371/journal.pone.0021473

PMCID:: PMC3123352

Abstract Article PDF–516K

Select item 22303617.

B. E. Clausen, S. L. Bridges, Jr, J. C. Lavelle, P. G. Fowler, S. Gay, W. J. Koopman, H. W. Schroeder, Jr

Mol Med. 1998 Apr; 4(4): 240–257.

PMCID:: PMC2230361

Summary Page Browse PDF–2.8M

Select item 18042878.

Cell-Specific Expression of Connexins and Evidence of Restricted Gap Junctional Coupling between Glial Cells and between Neurons

John E. Rash, Thomas Yasumura, F. Edward Dudek, James I. Nagy

J Neurosci. 2001 Mar 15; 21(6): 1983–2000. doi: 10.1523/JNEUROSCI.21-06-01983.2001

PMCID:: PMC1804287

Abstract Article PDF–8.1M

Select item 11804089.

Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

Ignacio del Castillo, Miguel A. Moreno-Pelayo, Francisco J. del Castillo, Zippora Brownstein, Sandrine Marlin, Quint Adina, David J. Cockburn, Arti Pandya, Kirby R. Siemering, G. Parker Chamberlin, Ester Ballana, Wim Wuyts, Andréa Trevas Maciel-Guerra, Araceli Álvarez, Manuela Villamar, Mordechai Shohat, Dvorah Abeliovich, Hans-Henrik M. Dahl, Xavier Estivill, Paolo Gasparini, Tim Hutchin, Walter E. Nance, Edi L. Sartorato, Richard J. H. Smith, Guy Van Camp, Karen B. Avraham, Christine Petit, Felipe Moreno

Am J Hum Genet. 2003 Dec; 73(6): 1452–1458. Published online 2003 Oct 21. doi: 10.1086/380205

PMCID:: PMC1180408

Abstract Article PDF–94K

Select item 945086510.

A study of GJB2 and delGJB6-D13S1830 mutations in Brazilian non-syndromic deaf children from the Amazon region

Luciana Santos Serrão de Castro, Anderson Nonato do Rosario Marinho, Elzemar Martins Ribeiro Rodrigues, Giorgio Christie Tavares Marques, Tarcísio André Amorim de Carvalho, Luiz Carlos Santana da Silva, Sidney Emanuel Batista dos Santos

Braz J Otorhinolaryngol. 2013 Jan-Feb; 79(1): 95–99. Published online 2015 Oct 14. doi: 10.5935/1808-8694.20130016

PMCID:: PMC9450865

Abstract Article PDF–179K

Select item 944617211.

Prevalence of 35de1G/GJB2 and del (GJB6-D13S1830) mutations in patients with non-syndromic deafness from a population of Espírito Santo - Brazil

Melissa de Freitas Cordeiro-Silva, Andressa Barbosa, Marília Santiago, Mariana Provetti, Eliete Rabbi-Bortolini

Braz J Otorhinolaryngol. 2010 Jul-Aug; 76(4): 428–432. Published online 2015 Oct 19. doi: 10.1590/S1808-86942010000400004

PMCID:: PMC9446172

Abstract Article PDF–174K

Select item 758974412.

GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort

Paula Buonfiglio, Carlos D. Bruque, Leonela Luce, Florencia Giliberto, Vanesa Lotersztein, Sebastián Menazzi, Bibiana Paoli, Ana Belén Elgoyhen, Viviana Dalamón

Genes (Basel) 2020 Oct; 11(10): 1233. Published online 2020 Oct 21. doi: 10.3390/genes11101233

PMCID:: PMC7589744

Abstract Article PDF–2.3M

Select item 662513113.

Frequency of GJB2 mutations, GJB6‐D13S1830 and GJB6‐D13S1854 deletions among patients with non‐syndromic hearing loss from the central region of Iran

Hossein Naddafnia, Zahra Noormohammadi, Shiva Irani, Iman Salahshoorifar

Mol Genet Genomic Med. 2019 Jul; 7(7): e00780. Published online 2019 Jun 4. doi: 10.1002/mgg3.780

PMCID:: PMC6625131

Abstract Article PDF–734K

Select item 458303014.

Connexin Type and Fluorescent Protein Fusion Tag Determine Structural Stability of Gap Junction Plaques

Randy F. Stout, Jr., Erik Lee Snapp, David C. Spray

J Biol Chem. 2015 Sep 25; 290(39): 23497–23514. Published online 2015 Aug 11. doi: 10.1074/jbc.M115.659979

PMCID:: PMC4583030

Abstract Article PDF–5.1M

Select item 444987515.

Single Nucleotide Polymorphisms of the GJB2 and GJB6 Genes Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss

Ana Paula Grillo, Flávia Marcorin de Oliveira, Gabriela Queila de Carvalho, Ruan Felipe Vieira Medrano, Sueli Matilde da Silva-Costa, Edi Lúcia Sartorato, Camila Andréa de Oliveira

Biomed Res Int. 2015; 2015: 318727. Published online 2015 May 17. doi: 10.1155/2015/318727

PMCID:: PMC4449875

Abstract Article PDF–773K

Select item 422653616.

Correlations of Differentially Expressed Gap Junction Connexins Cx26, Cx30, Cx32, Cx43 and Cx46 with Breast Cancer Progression and Prognosis

Ivett Teleki, Attila Marcell Szasz, Mate Elod Maros, Balazs Gyorffy, Janina Kulka, Nora Meggyeshazi, Gergo Kiszner, Peter Balla, Aliz Samu, Tibor Krenacs

PLoS One. 2014; 9(11): e112541. Published online 2014 Nov 10. doi: 10.1371/journal.pone.0112541

PMCID:: PMC4226536

Abstract Article PDF–1.3M

Select item 408624217.

In Search of Genetic Markers for Nonsyndromic Deafness in Africa: A Study in Cameroonians and Black South Africans with the GJB6 and GJA1 Candidate Genes

Jason Bosch, Kamogelo Lebeko, Jean Jacques Noubiap Nziale, Collet Dandara, Nomlindo Makubalo, Ambroise Wonkam

OMICS. 2014 Jul 1; 18(7): 481–485. doi: 10.1089/omi.2013.0166

PMCID:: PMC4086242

Abstract Article PDF–146K

Select item 350069718.

Permeation Pathway of Homomeric Connexin 26 and Connexin 30 Channels Investigated by Molecular Dynamics

Francesco Zonta, Guido Polles, Giuseppe Zanotti, Fabio Mammano

J Biomol Struct Dyn. Author manuscript; available in PMC 2012 Nov 19.

Published in final edited form as: J Biomol Struct Dyn. 2012; 29(5): 985–998. doi: 10.1080/073911012010525027

PMCID:: PMC3500697

Abstract Article PDF–4.6M

Select item 313150019.

Frequency of Usher Syndrome in Two Pediatric Populations: Implications for genetic screening of Deaf and Hard of Hearing Children

William J. Kimberling, Michael S. Hildebrand, A. Eliot Shearer, Maren L. Jensen, Jennifer A. Halder, Edward S. Cohn, Richard G. Weleber, Edwin M. Stone, Richard J. H. Smith

Genet Med. Author manuscript; available in PMC 2011 Jul 8.

Published in final edited form as: Genet Med. 2010 Aug; 12(8): 512–516. doi: 10.1097/GIM.0b013e3181e5afb8

PMCID:: PMC3131500

Abstract Article PDF–520K

Select item 312685520.

Allele-Specific Impairment of GJB2 Expression by GJB6 Deletion del(GJB6-D13S1854)

Juan Rodriguez-Paris, Marta L. Tamayo, Nancy Gelvez, Iris Schrijver

PLoS One. 2011; 6(6): e21665. Published online 2011 Jun 29. doi: 10.1371/journal.pone.0021665

PMCID:: PMC3126855

Abstract Article PDF–835K

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