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Select item 110000731.

GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali

Abdoulaye Yalcouyé, Seybou H. Diallo, Lassana Cissé, Mamadou Karembé, Salimata Diallo, Thomas Coulibaly, Salimata Diarra, Dramane Coulibaly, Mohamed Keita, Cheick O. Guinto, Kenneth H. Fischbeck, Ambroise Wonkam, Guida Landouré, The H3Africa Consortium

J Peripher Nerv Syst. Author manuscript; available in PMC 2024 Apr 8.

Published in final edited form as: J Peripher Nerv Syst. 2022 Jun; 27(2): 113–119. Published online 2022 Apr 5. doi: 10.1111/jns.12486

PMCID:: PMC11000073

Abstract Article PDF–695K

Select item 107976722.

Role of connexin 32 in the directional differentiation of induced pluripotent stem cells into hepatocytes

Yan Xu, Yufeng Wang, Ran Qi, Kun Li, Xiuyan Wang, Xinbo Li, Baomin Shi

Int J Med Sci. 2024; 21(3): 508–518. Published online 2024 Jan 12. doi: 10.7150/ijms.83973

PMCID:: PMC10797672

Abstract Article PDF–4.7M

Select item 100099073.

A novel splicing mutation in 5'UTR of GJB1 causes X‐linked Charcot—Marie–tooth disease

MeiYi Li, Minna Yin, Li Yang, Zhiheng Chen, Peng Du, Ling Sun, Juan Chen

Mol Genet Genomic Med. 2023 Mar; 11(3): e2108. Published online 2022 Nov 17. doi: 10.1002/mgg3.2108

PMCID:: PMC10009907

Abstract Article PDF–2.9M

Select item 96662134.

Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report

Xinyi Huang, Xiaoli Wu, Bei Wu, Jing Mou, Xingwei Ma

Medicine (Baltimore) 2022 Nov 11; 101(45): e31733. Published online 2022 Nov 11. doi: 10.1097/MD.0000000000031733

PMCID:: PMC9666213

Abstract Article PDF–819K

Select item 93510055.

Connexin32 regulates expansion of liver cancer stem cells via the PI3K/Akt signaling pathway

Hongyu Li, Boying Wang, Benquan Qi, Guojun Jiang, Min Qin, Meiling Yu

Oncol Rep. 2022 Sep; 48(3): 166. Published online 2022 Jul 25. doi: 10.3892/or.2022.8381

PMCID:: PMC9351005

Abstract Article PDF–4.2M

Select item 84094216.

Connexin32 activates necroptosis through Src‐mediated inhibition of caspase 8 in hepatocellular carcinoma

Yu‐ke Xiang, Fu‐hua Peng, Yun‐quan Guo, Hui Ge, Shao‐yi Cai, Li‐xia Fan, Yue‐xia Peng, Hao Wen, Qin Wang, Liang Tao

Cancer Sci. 2021 Sep; 112(9): 3507–3519. Published online 2021 Jul 16. doi: 10.1111/cas.14994

PMCID:: PMC8409421

Abstract Article PDF–2.3M

Select item 70570937.

A novel GJB1 mutation associated with X‐linked Charcot–Marie–Tooth disease in a large Chinese family pedigree

Yingdi Liu, Jinjie Xue, Zhuo Li, Siyuan Linpeng, Hu Tan, Yanling Teng, Desheng Liang, Lingqian Wu

Mol Genet Genomic Med. 2020 Mar; 8(3): e1127. Published online 2020 Jan 14. doi: 10.1002/mgg3.1127

PMCID:: PMC7057093

Abstract Article PDF–697K

Select item 69129418.

Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report

Youlong Liang, Jingli Liu, Daobin Cheng, Yu Wu, Liuhong Mo, Wen Huang

BMC Neurol. 2019; 19: 325. Published online 2019 Dec 16. doi: 10.1186/s12883-019-1563-4

PMCID:: PMC6912941

Abstract Article PDF–1.4M

Select item 67826959.

Altered Formation of Hemichannels and Gap Junction Channels Caused by C-Terminal Connexin-32 Mutations

Carmen Castro, Juan M. Gómez-Hernandez, Kaisa Silander, Luis C. Barrio

J Neurosci. 1999 May 15; 19(10): 3752–3760. doi: 10.1523/JNEUROSCI.19-10-03752.1999

PMCID:: PMC6782695

Abstract Article PDF–173K

Select item 591028310.

An Eight Generation Family With CMTX: Confirmation Of The Pathogenicity Of A 3′ Untranslated Region Mutation In GJB1 And Its Clinical Features

Dong-Hui Chen, Maxwell Ma, Mena Scavina, Elizabeth Blue, John Wolff, Prasanthi Karna, Michael O. Dorschner, Wendy H. Raskind, Thomas D. Bird

Muscle Nerve. Author manuscript; available in PMC 2019 May 1.

Published in final edited form as: Muscle Nerve. 2018 May; 57(5): 859–862. Published online 2017 Dec 28. doi: 10.1002/mus.26037

PMCID:: PMC5910283

Abstract Article PDF–455K

Select item 589771711.

Dileucine-like motifs in the C-terminal tail of connexin32 control its endocytosis and assembly into gap junctions

Anuttoma Ray, Parul Katoch, Nimansha Jain, Parmender P. Mehta

J Cell Sci. 2018 Mar 1; 131(5): jcs207340. doi: 10.1242/jcs.207340

PMCID:: PMC5897717

Abstract Article

Select item 542117412.

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease

Yuan-Yuan Lu, He Lyu, Su-Qin Jin, Yue-Huan Zuo, Jing Liu, Zhao-Xia Wang, Wei Zhang, Yun Yuan

Chin Med J (Engl) 2017 May 5; 130(9): 1049–1054. doi: 10.4103/0366-6999.204925

PMCID:: PMC5421174

Abstract Article PDF–631K

Select item 538644013.

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT

Pedro J. Tomaselli, Alexander M. Rossor, Alejandro Horga, Zane Jaunmuktane, Aisling Carr, Paola Saveri, Giuseppe Piscosquito, Davide Pareyson, Matilde Laura, Julian C. Blake, Roy Poh, James Polke, Henry Houlden, Mary M. Reilly

Neurology. 2017 Apr 11; 88(15): 1445–1453. doi: 10.1212/WNL.0000000000003819

PMCID:: PMC5386440

Abstract Article PDF–625K

Select item 522321914.

Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations

Charles K. Abrams, Mikhail Goman, Sarah Wong, Steven S. Scherer, Kleopas A. Kleopa, Alejandro Peinado, Mona M. Freidin

Sci Rep. 2017; 7: 40166. Published online 2017 Jan 10. doi: 10.1038/srep40166

PMCID:: PMC5223219

Abstract Article PDF–4.5M

Select item 511881715.

Connexin 32-mediated cell-cell communication is essential for hepatic differentiation from human embryonic stem cells

Jinhua Qin, Mingyang Chang, Shuyong Wang, Zhenbo Liu, Wei Zhu, Yi Wang, Fang Yan, Jian Li, Bowen Zhang, Guifang Dou, Jiang Liu, Xuetao Pei, Yunfang Wang

Sci Rep. 2016; 6: 37388. Published online 2016 Nov 22. doi: 10.1038/srep37388

Correction in:: Sci Rep. 2020; 10: 6165.

PMCID:: PMC5118817

Abstract Article PDF–3.6M

Select item 485266516.

Mutation Analysis of Gap Junction Protein Beta 1 and Genotype–Phenotype Correlation in X-linked Charcot–Marie–Tooth Disease in Chinese Patients

Bo Sun, Zhao-Hui Chen, Li Ling, Yi-Fan Li, Li-Zhi Liu, Fei Yang, Xu-Sheng Huang

Chin Med J (Engl) 2016 May 5; 129(9): 1011–1016. doi: 10.4103/0366-6999.180511

PMCID:: PMC4852665

Abstract Article PDF–658K

Select item 451367217.

Pathogenesis of X-Linked Charcot-Marie-Tooth Disease: Differential Effects of Two Mutations in Connexin 32

Charles K. Abrams, Mona Freidin, Feliksas Bukauskas, Kostantin Dobrenis, Thaddeus A. Bargiello, Vytas K. Verselis, Michael V. L. Bennett, Lei Chen, Zarife Sahenk

J Neurosci. 2003 Nov 19; 23(33): 10548–10558. doi: 10.1523/JNEUROSCI.23-33-10548.2003

PMCID:: PMC4513672

Abstract Article PDF–761K

Select item 433520518.

The Carboxyl Tail of Connexin32 Regulates Gap Junction Assembly in Human Prostate and Pancreatic Cancer Cells

Parul Katoch, Shalini Mitra, Anuttoma Ray, Linda Kelsey, Brett J. Roberts, James K. Wahl, III, Keith R. Johnson, Parmender P. Mehta

J Biol Chem. 2015 Feb 20; 290(8): 4647–4662. Published online 2014 Dec 30. doi: 10.1074/jbc.M114.586057

PMCID:: PMC4335205

Abstract Article PDF–4.6M

Select item 422267619.

GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot–Marie–Tooth disease

Claudia Gonzaga-Jauregui, Feng Zhang, Charles F. Towne, Sat Dev Batish, James R. Lupski

Neurogenetics. Author manuscript; available in PMC 2014 Nov 6.

Published in final edited form as: Neurogenetics. 2010 Oct; 11(4): 465–470. Published online 2010 Jun 9. doi: 10.1007/s10048-010-0247-4

PMCID:: PMC4222676

Abstract Article PDF–358K

Select item 379269120.

Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1)

Melody Caramins, James G. Colebatch, Matthew N. Bainbridge, Steven S. Scherer, Charles K. Abrams, Emma L. Hackett, Mona M. Freidin, Shalini N. Jhangiani, Min Wang, Yuanqing Wu, Donna M. Muzny, Robert Lindeman, Richard A. Gibbs

Hum Mol Genet. 2013 Nov 1; 22(21): 4329–4338. Published online 2013 Jun 16. doi: 10.1093/hmg/ddt282

PMCID:: PMC3792691

Abstract Article PDF–913K

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PMC Links for Gene (Select 2705) (69)
PMC
FIGNL1-interacting regulator of recombination and mitosis isoform X1 [Homo sapie...
FIGNL1-interacting regulator of recombination and mitosis isoform X1 [Homo sapiens]
gi|2217269030|ref|XP_047280715.1|

Protein
Chain A, Transcriptional regulator, TetR family
Chain A, Transcriptional regulator, TetR family
gi|255918041|pdb|3IH3|A

Protein
Conserved Domain Links for Structure (Select 70184) (2)
Conserved Domains

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