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: 116C>T; Ala39Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: 116C>T; Ala39Val

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: A39V

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

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A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.

Frontiers In Neuroscience

Yu, Allen Chi-Shing AC; Yim, Aldrin Kay-Yuen AK; Chan, Anne Yin-Yan AY; Yuen, Liz Y P LYP; Au, Wing Chi WC; Cheng, Timothy H T THT; Lin, Xiao X; Li, Jing-Woei JW; Chan, Larry W L LWL; Mok, Vincent C T VCT; Chan, Ting-Fung TF; Chan, Ho Yin Edwin HYE

Publication Date: 2019

Variant appearance in text: GJB1: Ala39Val

PubMed Link: 31920494

Variant Present in the following documents:

• Main text
• fnins-13-01324.pdf

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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: A39V

PubMed Link: 30042657

Variant Present in the following documents:

• Main text
• fnmol-11-00227.pdf

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Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

Neurology

Panosyan, Francis B FB; Laura, Matilde M; Rossor, Alexander M AM; Pisciotta, Chiara C; Piscosquito, Giuseppe G; Burns, Joshua J; Li, Jun J; Yum, Sabrina W SW; Lewis, Richard A RA; Day, John J; Horvath, Rita R; Herrmann, David N DN; Shy, Michael E ME; Pareyson, Davide D; Reilly, Mary M MM; Scherer, Steven S SS; ,

Publication Date: 2017-08-29

Variant appearance in text: GJB1: Ala39Val

PubMed Link: 28768847

Variant Present in the following documents:

• Main text
• NEUROLOGY2017803221.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: A39V

PubMed Link: 27585976

Variant Present in the following documents:

• Main text

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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: A39V

PubMed Link: 27228968

Variant Present in the following documents:

• Main text
• 12860_2016_Article_92.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: A39V

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: A39V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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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: A39V

PubMed Link: 22771394

Variant Present in the following documents:

• Main text

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Hand weakness in Charcot-Marie-Tooth disease 1X.

Neuromuscular Disorders : Nmd

Arthur-Farraj, P J PJ; Murphy, S M SM; Laura, M M; Lunn, M P MP; Manji, H H; Blake, J J; Ramdharry, G G; Fox, Z Z; Reilly, M M MM

Publication Date: 2012-07

Variant appearance in text: GJB1: Ala39Val

PubMed Link: 22464564

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: A39V

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: A39V

PubMed Link: 21871435

Variant Present in the following documents:

• Main text

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A fully atomistic model of the Cx32 connexon.

Plos One

Pantano, Sergio S; Zonta, Francesco F; Mammano, Fabio F

Publication Date: 2008-07-02

Variant appearance in text: CMTX: A39V

PubMed Link: 18648547

Variant Present in the following documents:

• Main text
• pone.0002614.pdf

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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: A39V

PubMed Link: 18236012

Variant Present in the following documents:

• Main text

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Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

American Journal Of Human Genetics

Paznekas, William A WA; Boyadjiev, Simeon A SA; Shapiro, Robert E RE; Daniels, Otto O; Wollnik, Bernd B; Keegan, Catherine E CE; Innis, Jeffrey W JW; Dinulos, Mary Beth MB; Christian, Cathy C; Hannibal, Mark C MC; Jabs, Ethylin Wang EW

Publication Date: 2003-02

Variant appearance in text: GJB1: A39V

PubMed Link: 12457340

Variant Present in the following documents:

• Main text

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