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: 541G>A; Val181Met

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: 541G>A; Val181Met

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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The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: GJB1: V181M

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: V181M

PubMed Link: 32903794

Variant Present in the following documents:

• Main text
• fneur-11-00690.pdf

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: V181M

PubMed Link: 30042657

Variant Present in the following documents:

• Main text
• fnmol-11-00227.pdf

View BVdb publication page

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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: V181M

PubMed Link: 28071741

Variant Present in the following documents:

• Main text
• srep40166.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: V181M

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: V181M

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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NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.

The Journal Of Investigative Dermatology

South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM

Publication Date: 2014-10

Variant appearance in text: GJB1: V181M

PubMed Link: 24662767

Variant Present in the following documents:

• NIHMS57574-supplement-data_tables.xlsx, sheet 2

View BVdb publication page

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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: V181M

PubMed Link: 21871435

Variant Present in the following documents:

• Main text

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Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.

European Journal Of Human Genetics : Ejhg

Miltenberger-Miltenyi, Gabriel G; Schwarzbraun, Thomas T; Löscher, Wolfgang N WN; Wanschitz, Julia J; Windpassinger, Christian C; Duba, Hans-Christoph HC; Seidl, Rainer R; Albrecht, Gerhard G; Weirich-Schwaiger, Helga H; Zoller, Heinz H; Utermann, Gerd G; Auer-Grumbach, Michaela M; Janecke, Andreas R AR

Publication Date: 2009-09

Variant appearance in text: CMTX: V181M

PubMed Link: 19259128

Variant Present in the following documents:

• Main text

View BVdb publication page

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