Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: GJB1: 704T>G; Phe235Cys; rs104894825

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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: F235C

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

View BVdb publication page

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DaT Scan "Abnormality" in Hyperglycemic-Hemichorea.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)

Doher, Nicholas N; Gupta, Harsh V HV

Publication Date: 2019

Variant appearance in text: GJB1: F235C; rs104894825

PubMed Link: 31824748

Variant Present in the following documents:

• tre-09-739-s003.xlsx, sheet 3

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: GJB1: 704T>G; rs104894825

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

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: F235C

PubMed Link: 30042657

Variant Present in the following documents:

• Main text
• fnmol-11-00227.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: GJB1: 704T>G; Phe235Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.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: F235C

PubMed Link: 27228968

Variant Present in the following documents:

• Main text
• 12860_2016_Article_92.pdf

View BVdb publication page

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Genetics and genomic medicine in Mali: challenges and future perspectives.

Molecular Genetics & Genomic Medicine

Landouré, Guida G; Samassékou, Oumar O; Traoré, Mahamadou M; Meilleur, Katherine G KG; Guinto, Cheick Oumar CO; Burnett, Barrington G BG; Sumner, Charlotte J CJ; Fischbeck, Kenneth H KH

Publication Date: 2016-03

Variant appearance in text: GJB1: 704T>G; Phe235Cys

PubMed Link: 27066513

Variant Present in the following documents:

• Main text
• MGG3-4-126.pdf

View BVdb publication page

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Charcot-marie-tooth disease type 1X in women: Electrodiagnostic findings.

Muscle & Nerve

Jerath, Nivedita U NU; Gutmann, Laurie L; Reddy, Chandan G CG; Shy, Michael E ME

Publication Date: 2016-10

Variant appearance in text: GJB1: Phe235Cys

PubMed Link: 26873881

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: CMTX1: F235C; rs104894825

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Secondary structural analysis of the carboxyl-terminal domain from different connexin isoforms.

Biopolymers

Spagnol, Gaëlle G; Al-Mugotir, Mona M; Kopanic, Jennifer L JL; Zach, Sydney S; Li, Hanjun H; Trease, Andrew J AJ; Stauch, Kelly L KL; Grosely, Rosslyn R; Cervantes, Matthew M; Sorgen, Paul L PL

Publication Date: 2016-03

Variant appearance in text: CMTX: F235C

PubMed Link: 26542351

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: F235C

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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Atrial fibrillation-linked germline GJA5/connexin40 mutants showed an increased hemichannel function.

Plos One

Sun, Yiguo Y; Hills, Matthew D MD; Ye, Willy G WG; Tong, Xiaoling X; Bai, Donglin D

Publication Date: 2014

Variant appearance in text: CMTX: F235C

PubMed Link: 24733048

Variant Present in the following documents:

• Main text
• pone.0095125.pdf

View BVdb publication page

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: GJB1: 704T>G; rs104894825

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 2

View BVdb publication page

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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: F235C

PubMed Link: 22771394

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of the structure and intermolecular interactions between the connexin 32 carboxyl-terminal domain and the protein partners synapse-associated protein 97 and calmodulin.

The Journal Of Biological Chemistry

Stauch, Kelly K; Kieken, Fabien F; Sorgen, Paul P

Publication Date: 2012-08-10

Variant appearance in text: CMTX: F235C

PubMed Link: 22718765

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structural basis for the selective permeability of channels made of communicating junction proteins.

Biochimica Et Biophysica Acta

Ek-Vitorin, Jose F JF; Burt, Janis M JM

Publication Date: 2013-01

Variant appearance in text: CMTX: F235C

PubMed Link: 22342665

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mild form of Charcot-Marie-Tooth type 1X disease caused by a novel Cys179Gly mutation in the GJB1/Cx32 gene.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Moszyńka, I I; Kabzińska, D D; Kochański, A A

Publication Date: 2009-10

Variant appearance in text: GJB1: F235C

PubMed Link: 20128140

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells.

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

Huang, Yan Y; Sirkowski, Erich E EE; Stickney, John T JT; Scherer, Steven S SS

Publication Date: 2005-08-03

Variant appearance in text: GJB1: F235C

PubMed Link: 16079393

Variant Present in the following documents:

• Main text

View BVdb publication page

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