Publications:

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Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Biology

Mao, Lu L; Wang, Yueqiang Y; An, Lei L; Zeng, Beiping B; Wang, Yanyan Y; Frishman, Dmitrij D; Liu, Mengli M; Chen, Yanyu Y; Tang, Wenxue W; Xu, Hongen H

Publication Date: 2023-03-27

Variant appearance in text: GJB2: D179N

PubMed Link: 37106706

Variant Present in the following documents:

• Main text
• biology-12-00505.pdf

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: GJB2: 535G>A; Asp179Asn

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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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: GJB2: 535G>A; Asp179Asn

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Comprehensive functional network analysis and screening of deleterious pathogenic variants in non-syndromic hearing loss causative genes.

Bioscience Reports

Ray, Manisha M; Sarkar, Saurav S; Sable, Mukund Namdev MN

Publication Date: 2021-10-29

Variant appearance in text: GJB2: 535G>A

PubMed Link: 34714320

Variant Present in the following documents:

• bsr-41-bsr20211865.pdf

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Phenotypic Heterogeneity of Post-lingual and/or Milder Hearing Loss for the Patients With the GJB2 c.235delC Homozygous Mutation.

Frontiers In Cell And Developmental Biology

Wang, Hongyang H; Gao, Yun Y; Guan, Jing J; Lan, Lan L; Yang, Ju J; Xiong, Wenping W; Zhao, Cui C; Xie, Linyi L; Yu, Lan L; Wang, Dayong D; Wang, Qiuju Q

Publication Date: 2021

Variant appearance in text: GJB2: D179N

PubMed Link: 33718389

Variant Present in the following documents:

• Main text
• fcell-09-647240.pdf

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Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss.

Biomolecules

Maslova, Ekaterina A EA; Orishchenko, Konstantin E KE; Posukh, Olga L OL

Publication Date: 2021-01-05

Variant appearance in text: GJB2: D179N

PubMed Link: 33466560

Variant Present in the following documents:

• Main text
• biomolecules-11-00061.pdf
• biomolecules-11-00061-s001.pdf

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Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.

Life (Basel, Switzerland)

Adadey, Samuel Mawuli SM; Wonkam-Tingang, Edmond E; Twumasi Aboagye, Elvis E; Nayo-Gyan, Daniel Wonder DW; Boatemaa Ansong, Maame M; Quaye, Osbourne O; Awandare, Gordon A GA; Wonkam, Ambroise A

Publication Date: 2020-10-28

Variant appearance in text: GJB2: D179N

PubMed Link: 33126609

Variant Present in the following documents:

• life-10-00258-s001.pdf

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Connexin-46/50 in a dynamic lipid environment resolved by CryoEM at 1.9 Å.

Nature Communications

Flores, Jonathan A JA; Haddad, Bassam G BG; Dolan, Kimberly A KA; Myers, Janette B JB; Yoshioka, Craig C CC; Copperman, Jeremy J; Zuckerman, Daniel M DM; Reichow, Steve L SL

Publication Date: 2020-08-28

Variant appearance in text: GJB2: D179N

PubMed Link: 32859914

Variant Present in the following documents:

• 41467_2020_Article_18120.pdf

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Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family.

Biomed Research International

Huang, Shasha S; Gao, Xue X; Wang, Yufeng Y; Kang, Dongyang D; Zhang, Xin X; Yang, Suyan S; Dai, Pu P

Publication Date: 2020

Variant appearance in text: GJB2: Asp179Asn

PubMed Link: 32090102

Variant Present in the following documents:

• BMRI2020-6370386.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GJB2: 535G>A; D179N

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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Calcium interactions with Cx26 hemmichannel: Spatial association between MD simulations biding sites and variant pathogenicity.

Computational Biology And Chemistry

Albano, Juan M R JMR; Mussini, Nahuel N; Toriano, Roxana R; Facelli, Julio C JC; Ferraro, Marta B MB; Pickholz, Mónica M

Publication Date: 2018-12

Variant appearance in text: CX26: D179N

PubMed Link: 30466042

Variant Present in the following documents:

• Main text

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A novel dominant GJB2 (DFNA3) mutation in a Chinese family.

Scientific Reports

Wang, Hongyang H; Wu, Kaiwen K; Yu, Lan L; Xie, Linyi L; Xiong, Wenping W; Wang, Dayong D; Guan, Jing J; Wang, Qiuju Q

Publication Date: 2017-01-19

Variant appearance in text: GJB2: D179N

PubMed Link: 28102197

Variant Present in the following documents:

• Main text
• srep34425.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: GJB2: D179N

PubMed Link: 27228968

Variant Present in the following documents:

• Main text
• 12860_2016_Article_92.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: rs28931595

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: GJB2: D179N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.

American Journal Of Medical Genetics. Part A

Bazazzadegan, Niloofar N; Sheffield, Abraham M AM; Sobhani, Masoomeh M; Kahrizi, Kimia K; Meyer, Nicole C NC; Van Camp, Guy G; Hilgert, Nele N; Abedini, Seyedeh Sedigheh SS; Habibi, Farkhondeh F; Daneshi, Ahmad A; Nishimura, Carla C; Avenarius, Matthew R MR; Farhadi, Mohammad M; Smith, Richard J H RJ; Najmabadi, Hossein H

Publication Date: 2011-05

Variant appearance in text: GJB2: 535G>A

PubMed Link: 21484990

Variant Present in the following documents:

• Main text

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Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26.

Molecular And Cellular Neurosciences

Zhang, Junxian J; Scherer, Steven S SS; Yum, Sabrina W SW

Publication Date: 2011-06

Variant appearance in text: GJB2: D179N

PubMed Link: 21040787

Variant Present in the following documents:

• Main text

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Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.

Plos One

Rodriguez-Paris, Juan J; Pique, Lynn L; Colen, Tahl T; Roberson, Joseph J; Gardner, Phyllis P; Schrijver, Iris I

Publication Date: 2010-07-26

Variant appearance in text: GJB2: D179N

PubMed Link: 20668687

Variant Present in the following documents:

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Gap-junction channels dysfunction in deafness and hearing loss.

Antioxidants & Redox Signaling

Martínez, Agustín D AD; Acuña, Rodrigo R; Figueroa, Vania V; Maripillan, Jaime J; Nicholson, Bruce B

Publication Date: 2009-02

Variant appearance in text: GJB2: D179N

PubMed Link: 18837651

Variant Present in the following documents:

• Main text

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A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness.

The American Journal Of Pathology

de Zwart-Storm, Eugene A EA; van Geel, Michel M; van Neer, Pierre A F A PA; Steijlen, Peter M PM; Martin, Patricia E PE; van Steensel, Maurice A M MA

Publication Date: 2008-10

Variant appearance in text: GJB2: Asp179Asn

PubMed Link: 18787097

Variant Present in the following documents:

• Main text

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Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Zhang, Yanping Y; Tang, Wenxue W; Ahmad, Shoab S; Sipp, James A JA; Chen, Ping P; Lin, Xi X

Publication Date: 2005-10-18

Variant appearance in text: GJB2: D179N

PubMed Link: 16217030

Variant Present in the following documents:

• Main text

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