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: 658C>T; Arg220Ter

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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Integrated profiling of human pancreatic cancer organoids reveals chromatin accessibility features associated with drug sensitivity.

Nature Communications

Shi, Xiaohan X; Li, Yunguang Y; Yuan, Qiuyue Q; Tang, Shijie S; Guo, Shiwei S; Zhang, Yehan Y; He, Juan J; Zhang, Xiaoyu X; Han, Ming M; Liu, Zhuang Z; Zhu, Yiqin Y; Gao, Suizhi S; Wang, Huan H; Xu, Xiongfei X; Zheng, Kailian K; Jing, Wei W; Chen, Luonan L; Wang, Yong Y; Jin, Gang G; Gao, Dong D

Publication Date: 2022-04-21

Variant appearance in text: GJB1: R220X

PubMed Link: 35449156

Variant Present in the following documents:

• 41467_2022_29857_MOESM5_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: R220X

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

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Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.

Annals Of Clinical And Translational Neurology

Hsu, Yun-Hsin YH; Lin, Kon-Ping KP; Guo, Yuh-Cherng YC; Tsai, Yu-Shuen YS; Liao, Yi-Chu YC; Lee, Yi-Chung YC

Publication Date: 2019-06

Variant appearance in text: GJB1: R220*

PubMed Link: 31211173

Variant Present in the following documents:

• Main text
• ACN3-6-1090.pdf

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: GJB1: 658C>T; Arg220Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Role of Connexin-Based Gap Junction Channels in Communication of Myelin Sheath in Schwann Cells.

Frontiers In Cellular Neuroscience

Cisterna, Bruno A BA; Arroyo, Pablo P; Puebla, Carlos C

Publication Date: 2019

Variant appearance in text: CMTX1: R220X

PubMed Link: 30881289

Variant Present in the following documents:

• Main text
• fncel-13-00069.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: R220X

PubMed Link: 30042657

Variant Present in the following documents:

• Main text
• fnmol-11-00227.pdf

View BVdb publication page

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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: Arg220Ter

PubMed Link: 28768847

Variant Present in the following documents:

• Main text
• NEUROLOGY2017803221.pdf

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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: 658C>T; Arg220Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Clinical and biophysical characterization of 19 GJB1 mutations.

Annals Of Clinical And Translational Neurology

Tsai, Pei-Chien PC; Yang, De-Ming DM; Liao, Yi-Chu YC; Chiu, Tai-Yu TY; Kuo, Hung-Chou HC; Su, Yu-Ping YP; Guo, Yuh-Cherng YC; Soong, Bing-Wen BW; Lin, Kon-Ping KP; Liu, Yo-Tsen YT; Lee, Yi-Chung YC

Publication Date: 2016-11

Variant appearance in text: GJB1: 658C>T

PubMed Link: 27844031

Variant Present in the following documents:

• Main text
• ACN3-3-854.pdf

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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: R220X

PubMed Link: 27228968

Variant Present in the following documents:

• Main text
• 12860_2016_Article_92.pdf

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Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

Biomed Research International

Høyer, Helle H; Braathen, Geir J GJ; Busk, Øyvind L ØL; Holla, Øystein L ØL; Svendsen, Marit M; Hilmarsen, Hilde T HT; Strand, Linda L; Skjelbred, Camilla F CF; Russell, Michael B MB

Publication Date: 2014

Variant appearance in text: GJB1: 658C>T

PubMed Link: 25025039

Variant Present in the following documents:

• Main text
• BMRI2014-210401.pdf

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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: R220x

PubMed Link: 21871435

Variant Present in the following documents:

• Main text

View BVdb publication page

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