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: 713G>A; Arg238His

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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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: R238H

PubMed Link: 30042657

Variant Present in the following documents:

• Main text
• fnmol-11-00227.pdf

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: R238H

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: R238H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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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: R238H

PubMed Link: 23279425

Variant Present in the following documents:

• Main text

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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: R238H

PubMed Link: 22718765

Variant Present in the following documents:

• Main text

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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: R238H

PubMed Link: 22342665

Variant Present in the following documents:

• Main text

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Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

American Journal Of Human Genetics

McLaughlin, Heather M HM; Sakaguchi, Reiko R; Liu, Cuiping C; Igarashi, Takao T; Pehlivan, Davut D; Chu, Kristine K; Iyer, Ram R; Cruz, Pedro P; Cherukuri, Praveen F PF; Hansen, Nancy F NF; Mullikin, James C JC; , ; Biesecker, Leslie G LG; Wilson, Thomas E TE; Ionasescu, Victor V; Nicholson, Garth G; Searby, Charles C; Talbot, Kevin K; Vance, Jeffrey M JM; Züchner, Stephan S; Szigeti, Kinga K; Lupski, James R JR; Hou, Ya-Ming YM; Green, Eric D ED; Antonellis, Anthony A

Publication Date: 2010-10-08

Variant appearance in text: GJB1: Arg238His

PubMed Link: 20920668

Variant Present in the following documents:

• Main text

View BVdb publication page

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