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: 491G>A; Arg164Gln

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine

Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A

Publication Date: 2021-03-17

Variant appearance in text: GJB1: 491G>A; Arg164Gln

PubMed Link: 33726816

Variant Present in the following documents:

• 13073_2021_855_MOESM3_ESM.xlsx, sheet 1

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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: R164Q

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

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Systematic review of CMTX1 patients with episodic neurological dysfunction.

Annals Of Clinical And Translational Neurology

Tian, Dandan D; Zhao, Yating Y; Zhu, Ruixia R; Li, Qu Q; Liu, Xu X

Publication Date: 2021-01

Variant appearance in text: CMTX1: Arg164Gln

PubMed Link: 33314704

Variant Present in the following documents:

• Main text
• ACN3-8-213.pdf

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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: R164Q

PubMed Link: 32903794

Variant Present in the following documents:

• Main text
• fneur-11-00690.pdf

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Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes.

Molecular Genetics & Genomic Medicine

Michaelidou, Kleita K; Tsiverdis, Ioannis I; Erimaki, Sophia S; Papadimitriou, Dimitra D; Amoiridis, Georgios G; Papadimitriou, Alexandros A; Mitsias, Panayiotis P; Zaganas, Ioannis I

Publication Date: 2020-04

Variant appearance in text: GJB1: 491G>A; R164Q; rs1241595912

PubMed Link: 32022442

Variant Present in the following documents:

• Main text
• MGG3-8-e1141.pdf

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The role of oligodendrocyte gap junctions in neuroinflammation.

Channels (Austin, Tex.)

Papaneophytou, Christos C; Georgiou, Elena E; Kleopa, Kleopas A KA

Publication Date: 2019-12

Variant appearance in text: GJB1: R164Q

PubMed Link: 31232168

Variant Present in the following documents:

• Main text
• kchl-13-01-1631107.pdf

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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: R164Q

PubMed Link: 31211173

Variant Present in the following documents:

• Main text

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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: R164Q

PubMed Link: 30042657

Variant Present in the following documents:

• Main text
• fnmol-11-00227.pdf

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The Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits.

Frontiers In Neurology

Wen, Qingxian Q; Cao, Longqiao L; Yang, Cun C; Xie, Yanchen Y

Publication Date: 2018

Variant appearance in text: CMTX: Arg164Gln

PubMed Link: 30013503

Variant Present in the following documents:

• Main text

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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: Arg164Gln

PubMed Link: 28768847

Variant Present in the following documents:

• Main text
• NEUROLOGY2017803221.pdf

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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: R164Q

PubMed Link: 28071741

Variant Present in the following documents:

• Main text
• srep40166.pdf

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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: 491G>A

PubMed Link: 27844031

Variant Present in the following documents:

• Main text
• ACN3-3-854.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: R164Q

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: R164Q

PubMed Link: 27228968

Variant Present in the following documents:

• Main text

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Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients.

Chinese Medical Journal

Sun, Bo B; Chen, Zhao-Hui ZH; Ling, Li L; Li, Yi-Fan YF; Liu, Li-Zhi LZ; Yang, Fei F; Huang, Xu-Sheng XS

Publication Date: 2016-05-05

Variant appearance in text: GJB1: 491G>A

PubMed Link: 27098783

Variant Present in the following documents:

• CMJ-129-1011.pdf

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Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing.

Molecules And Cells

Nam, Soo Hyun SH; Hong, Young Bin YB; Hyun, Young Se YS; Nam, Da Eun da E; Kwak, Geon G; Hwang, Sun Hee SH; Choi, Byung-Ok BO; Chung, Ki Wha KW

Publication Date: 2016-05-31

Variant appearance in text: GJB1: 491G>A

PubMed Link: 27025386

Variant Present in the following documents:

• Main text
• molce-39-5-382.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: R164Q

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: R164Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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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: 491G>A

PubMed Link: 25025039

Variant Present in the following documents:

• Main text
• BMRI2014-210401.pdf

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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: R164Q

PubMed Link: 23279425

Variant Present in the following documents:

• Main text

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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: R164Q

PubMed Link: 22771394

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: R164Q

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: R164Q

PubMed Link: 21871435

Variant Present in the following documents:

• Main text

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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: R164Q

PubMed Link: 18236012

Variant Present in the following documents:

• Main text

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