Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: GJB1: 490C>T; Arg164Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: GJB1: R164W; rs139643362

PubMed Link: 36742322

Variant Present in the following documents:

• Table_8.xlsx, sheet 1

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: GJB1: 490C>T; Arg164Trp

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 2
• pcbi.1010013.s002.xlsx, sheet 4

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New evidence for secondary axonal degeneration in demyelinating neuropathies.

Neuroscience Letters

Moss, Kathryn R KR; Bopp, Taylor S TS; Johnson, Anna E AE; Höke, Ahmet A

Publication Date: 2021-01-23

Variant appearance in text: GJB1: R164W

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

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Systematic review of CMTX1 patients with episodic neurological dysfunction.

Annals Of Clinical And Translational Neurology

Tian, Dandan D; Zhao, Yating Y; Zhu, Ruixia R; Li, Qu Q; Liu, Xu X

Publication Date: 2021-01

Variant appearance in text: GJB1: Arg164Trp

PubMed Link: 33314704

Variant Present in the following documents:

• Main text
• ACN3-8-213.pdf

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Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations.

Frontiers In Neurology

Liu, Xiaoxuan X; Duan, Xiaohui X; Zhang, Yingshuang Y; Sun, Aping A; Fan, Dongsheng D

Publication Date: 2020

Variant appearance in text: CMTX1: R164W

PubMed Link: 32903794

Variant Present in the following documents:

• Main text
• fneur-11-00690.pdf

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: GJB1: R164W

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes.

Molecular Genetics & Genomic Medicine

Michaelidou, Kleita K; Tsiverdis, Ioannis I; Erimaki, Sophia S; Papadimitriou, Dimitra D; Amoiridis, Georgios G; Papadimitriou, Alexandros A; Mitsias, Panayiotis P; Zaganas, Ioannis I

Publication Date: 2020-04

Variant appearance in text: GJB1: Arg164Trp

PubMed Link: 32022442

Variant Present in the following documents:

• Main text
• MGG3-8-e1141.pdf

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The role of oligodendrocyte gap junctions in neuroinflammation.

Channels (Austin, Tex.)

Papaneophytou, Christos C; Georgiou, Elena E; Kleopa, Kleopas A KA

Publication Date: 2019-12

Variant appearance in text: GJB1: R164W

PubMed Link: 31232168

Variant Present in the following documents:

• Main text
• kchl-13-01-1631107.pdf

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: GJB1: 490C>T; Arg164Trp

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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What's the Function of Connexin 32 in the Peripheral Nervous System?

Frontiers In Molecular Neuroscience

Bortolozzi, Mario M

Publication Date: 2018

Variant appearance in text: GJB1: R164W

PubMed Link: 30042657

Variant Present in the following documents:

• Main text
• fnmol-11-00227.pdf

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The Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits.

Frontiers In Neurology

Wen, Qingxian Q; Cao, Longqiao L; Yang, Cun C; Xie, Yanchen Y

Publication Date: 2018

Variant appearance in text: CMTX: Arg164Trp

PubMed Link: 30013503

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Chinese Medical Journal

Lu, Yuan-Yuan YY; Lyu, He H; Jin, Su-Qin SQ; Zuo, Yue-Huan YH; Liu, Jing J; Wang, Zhao-Xia ZX; Zhang, Wei W; Yuan, Yun Y

Publication Date: 2017-05-05

Variant appearance in text: GJB1: 490C>T; R164W

PubMed Link: 28469099

Variant Present in the following documents:

• CMJ-130-1049.pdf

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

Scientific Reports

Abrams, Charles K CK; Goman, Mikhail M; Wong, Sarah S; Scherer, Steven S SS; Kleopa, Kleopas A KA; Peinado, Alejandro A; Freidin, Mona M MM

Publication Date: 2017-01-10

Variant appearance in text: GJB1: R164W

PubMed Link: 28071741

Variant Present in the following documents:

• Main text
• srep40166.pdf

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Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease.

Acta Neuropathologica Communications

Olympiou, Margarita M; Sargiannidou, Irene I; Markoullis, Kyriaki K; Karaiskos, Christos C; Kagiava, Alexia A; Kyriakoudi, Styliana S; Abrams, Charles K CK; Kleopa, Kleopas A KA

Publication Date: 2016-09-01

Variant appearance in text: GJB1: R164W

PubMed Link: 27585976

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: GJB1: 490C>T; R164W

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Connexinopathies: a structural and functional glimpse.

Bmc Cell Biology

García, Isaac E IE; Prado, Pavel P; Pupo, Amaury A; Jara, Oscar O; Rojas-Gómez, Diana D; Mujica, Paula P; Flores-Muñoz, Carolina C; González-Casanova, Jorge J; Soto-Riveros, Carolina C; Pinto, Bernardo I BI; Retamal, Mauricio A MA; González, Carlos C; Martínez, Agustín D AD

Publication Date: 2016-05-24

Variant appearance in text: CMTX: R164W

PubMed Link: 27228968

Variant Present in the following documents:

• Main text

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

Chinese Medical Journal

Sun, Bo B; Chen, Zhao-Hui ZH; Ling, Li L; Li, Yi-Fan YF; Liu, Li-Zhi LZ; Yang, Fei F; Huang, Xu-Sheng XS

Publication Date: 2016-05-05

Variant appearance in text: GJB1: 490C>T

PubMed Link: 27098783

Variant Present in the following documents:

• CMJ-129-1011.pdf

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Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing.

Molecules And Cells

Nam, Soo Hyun SH; Hong, Young Bin YB; Hyun, Young Se YS; Nam, Da Eun da E; Kwak, Geon G; Hwang, Sun Hee SH; Choi, Byung-Ok BO; Chung, Ki Wha KW

Publication Date: 2016-05-31

Variant appearance in text: GJB1: 490C>T

PubMed Link: 27025386

Variant Present in the following documents:

• Main text
• molce-39-5-382.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: GJB1: R164W

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GJB1: R164W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations.

Bmc Medical Genetics

Østern, Rune R; Fagerheim, Toril T; Hjellnes, Helene H; Nygård, Bjørn B; Mellgren, Svein Ivar SI; Nilssen, Øivind Ø

Publication Date: 2014-01-21

Variant appearance in text: GJB1: 490C>T; Arg164Trp

PubMed Link: 24444136

Variant Present in the following documents:

• Main text
• 1471-2350-15-12.pdf

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X-linked Charcot-Marie-Tooth disease.

Journal Of The Peripheral Nervous System : Jpns

Scherer, Steven S SS; Kleopa, Kleopas A KA

Publication Date: 2012-12

Variant appearance in text: GJB1: R164W

PubMed Link: 23279425

Variant Present in the following documents:

• Main text

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How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?

Brain Research

Kleopa, Kleopas A KA; Abrams, Charles K CK; Scherer, Steven S SS

Publication Date: 2012-12-03

Variant appearance in text: GJB1: R164W

PubMed Link: 22771394

Variant Present in the following documents:

• Main text

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The role of gap junctions in Charcot-Marie-Tooth disease.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Kleopa, Kleopas A KA

Publication Date: 2011-12-07

Variant appearance in text: GJB1: R164W

PubMed Link: 22159091

Variant Present in the following documents:

• Main text

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Gap junctions in inherited human disorders of the central nervous system.

Biochimica Et Biophysica Acta

Abrams, Charles K CK; Scherer, Steven S SS

Publication Date: 2012-08

Variant appearance in text: GJB1: R164W

PubMed Link: 21871435

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gap junctions couple astrocytes and oligodendrocytes.

Journal Of Molecular Neuroscience : Mn

Orthmann-Murphy, Jennifer L JL; Abrams, Charles K CK; Scherer, Steven S SS

Publication Date: 2008-05

Variant appearance in text: GJB1: R164W

PubMed Link: 18236012

Variant Present in the following documents:

• Main text

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