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: D50N

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: 148G>A; Asp50Asn

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Keratitis-ichthyosis-deafness Syndrome with Heterozygous p.D50N in the GJB2 Gene in Two Serbian Adult Patients.

Balkan Journal Of Medical Genetics : Bjmg

Kalezić, T T; Vuković, I I; Stojković, M M; Stanojlović, S S; Karanović, J J; Brajušković, G G; Savić-Pavićević, D D

Publication Date: 2022-06

Variant appearance in text: GJB2: 148G>A; D50N

PubMed Link: 36880041

Variant Present in the following documents:

• Main text
• bjmg-25-079.pdf

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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: 148G>A; Asp50Asn

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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Expression of KID syndromic mutation Cx26S17F produces hyperactive hemichannels in supporting cells of the organ of Corti.

Frontiers In Cell And Developmental Biology

Abbott, Ana C AC; García, Isaac E IE; Villanelo, Felipe F; Flores-Muñoz, Carolina C; Ceriani, Ricardo R; Maripillán, Jaime J; Novoa-Molina, Joel J; Figueroa-Cares, Cindel C; Pérez-Acle, Tomas T; Sáez, Juan C JC; Sánchez, Helmuth A HA; Martínez, Agustín D AD

Publication Date: 2022

Variant appearance in text: GJB2: D50N

PubMed Link: 36699003

Variant Present in the following documents:

• Main text
• fcell-10-1071202.pdf

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The Clinical Manifestation of p.Asp50Asn Heterozygous Mutation of GJB2 Gene in 3 Members of a Family Is Similar to That of Clouston Syndrome.

Annals Of Dermatology

Xu, Yanjiang Y; Wang, Minhua M; Huang, Ling L; Hu, Jie J

Publication Date: 2022-10

Variant appearance in text: GJB2: Asp50Asn

PubMed Link: 36198631

Variant Present in the following documents:

• ad-34-382.pdf

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A Quantitative Assay for Ca2+ Uptake through Normal and Pathological Hemichannels.

International Journal Of Molecular Sciences

Nardin, Chiara C; Tettey-Matey, Abraham A; Donati, Viola V; Marazziti, Daniela D; Di Pietro, Chiara C; Peres, Chiara C; Raspa, Marcello M; Zonta, Francesco F; Yang, Guang G; Gorelik, Maryna M; Singh, Serena S; Cardarelli, Lia L; Sidhu, Sachdev S SS; Mammano, Fabio F

Publication Date: 2022-06-30

Variant appearance in text: GJB2: D50N

PubMed Link: 35806342

Variant Present in the following documents:

• ijms-23-07337.pdf

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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: GJB2: 148G>A; Asp50Asn

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4
• pcbi.1010013.s002.xlsx, sheet 2

View BVdb publication page

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: GJB2: 148G>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Connexin hemichannel inhibition ameliorates epidermal pathology in a mouse model of keratitis ichthyosis deafness syndrome.

Scientific Reports

Sellitto, Caterina C; Li, Leping L; White, Thomas W TW

Publication Date: 2021-12-16

Variant appearance in text: GJB2: D50N

PubMed Link: 34916582

Variant Present in the following documents:

• Main text
• 41598_2021_Article_3627.pdf

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Connexin hemichannel inhibition ameliorates epidermal pathology in a mouse model of keratitis ichthyosis deafness syndrome.

Scientific Reports

Sellitto, Caterina C; Li, Leping L; White, Thomas W TW

Publication Date: 2021-12-16

Variant appearance in text: GJB2: D50N

PubMed Link: 34916582

Variant Present in the following documents:

• Main text
• 41598_2021_Article_3627.pdf

View BVdb publication page

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Hearing loss in Africa: current genetic profile.

Human Genetics

Adadey, Samuel Mawuli SM; Wonkam-Tingang, Edmond E; Aboagye, Elvis Twumasi ET; Quaye, Osbourne O; Awandare, Gordon A GA; Wonkam, Ambroise A

Publication Date: 2022-04

Variant appearance in text: GJB2: D50N

PubMed Link: 34609590

Variant Present in the following documents:

• Main text
• 439_2021_Article_2376.pdf

View BVdb publication page

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KID Syndrome and Hidradenitis Suppurativa: A Rare Association Responding to Surgical Treatment.

Skin Appendage Disorders

Bettoli, Vincenzo V; Forconi, Riccardo R; Pezzini, Ilaria I; Martinello, Ruby R; Scuderi, Valeria V; Zedde, Piera P; Schettini, Natale N; Pacetti, Lucrezia L; Corazza, Monica M

Publication Date: 2021-01

Variant appearance in text: GJB2: D50N

PubMed Link: 33614714

Variant Present in the following documents:

• Main text

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Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.

Molecular Genetics & Genomic Medicine

Bedoukian, Emma C EC; Rentas, Stefan S; Skraban, Cara C; Shao, Qing Q; Treat, James J; Laird, Dale W DW; Sullivan, Kathleen E KE

Publication Date: 2021-02

Variant appearance in text: GJB2: Asp50Asn

PubMed Link: 33443819

Variant Present in the following documents:

• Main text
• MGG3-9-e1574.pdf

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Hereditary Hearing Impairment with Cutaneous Abnormalities.

Genes

Lee, Tung-Lin TL; Lin, Pei-Hsuan PH; Chen, Pei-Lung PL; Hong, Jin-Bon JB; Wu, Chen-Chi CC

Publication Date: 2020-12-30

Variant appearance in text: GJB2: D50N

PubMed Link: 33396879

Variant Present in the following documents:

• genes-12-00043.pdf

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A novel voltage-clamp/dye uptake assay reveals saturable transport of molecules through CALHM1 and connexin channels.

The Journal Of General Physiology

Gaete, Pablo S PS; Lillo, Mauricio A MA; López, William W; Liu, Yu Y; Jiang, Wenjuan W; Luo, Yun Y; Harris, Andrew L AL; Contreras, Jorge E JE

Publication Date: 2020-11-02

Variant appearance in text: GJB2: D50N

PubMed Link: 33074302

Variant Present in the following documents:

• JGP_202012607.pdf

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Hearing Impairment Overview in Africa: the Case of Cameroon.

Genes

Wonkam Tingang, Edmond E; Noubiap, Jean Jacques JJ; F Fokouo, Jean Valentin JV; Oluwole, Oluwafemi Gabriel OG; Nguefack, Séraphin S; Chimusa, Emile R ER; Wonkam, Ambroise A

Publication Date: 2020-02-22

Variant appearance in text: GJB2: 148G>A

PubMed Link: 32098311

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Asp50Asn

PubMed Link: 32090102

Variant Present in the following documents:

• BMRI2020-6370386.pdf

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A case of keratitis, ichthyosis, and deafness syndrome with rickets.

Jaad Case Reports

Bhattarai, Sabina S; Pandey, Arti S AS; Bastakoti, Sherya S; Soderkvist, Peter P; Bhusal, Mohan M

Publication Date: 2020-01

Variant appearance in text: GJB2: 148G>A; D50N

PubMed Link: 31890828

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structure and Function of Cochlear Gap Junctions and Implications for the Translation of Cochlear Gene Therapies.

Frontiers In Cellular Neuroscience

Wu, Xuewen X; Zhang, Wenjuan W; Li, Yihui Y; Lin, Xi X

Publication Date: 2019

Variant appearance in text: GJB2: D50N

PubMed Link: 31827424

Variant Present in the following documents:

• Main text
• fncel-13-00529.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: 148G>A; D50N

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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Allele-Specific Small Interfering RNA Corrects Aberrant Cellular Phenotype in Keratitis-Ichthyosis-Deafness Syndrome Keratinocytes.

The Journal Of Investigative Dermatology

Lee, Ming Yang MY; Wang, Hong-Zhan HZ; White, Thomas W TW; Brooks, Tony T; Pittman, Alan A; Halai, Heerni H; Petrova, Anastasia A; Xu, Diane D; Hart, Stephen L SL; Kinsler, Veronica A VA; Di, Wei-Li WL

Publication Date: 2020-05

Variant appearance in text: GJB2: 148G>A; D50N

PubMed Link: 31705875

Variant Present in the following documents:

• Main text

View BVdb publication page

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Microarray-based screening system identifies temperature-controlled activity of Connexin 26 that is distorted by mutations.

Scientific Reports

Wang, Hongling H; Stahl, Frank F; Scheper, Thomas T; Steffens, Melanie M; Warnecke, Athanasia A; Zeilinger, Carsten C

Publication Date: 2019-09-19

Variant appearance in text: GJB2: D50N

PubMed Link: 31537823

Variant Present in the following documents:

• Main text
• 41598_2019_Article_49423.pdf

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Alterations in connexin 26 protein structure from lethal keratitis-ichthyosis-deafness syndrome mutations A88V and G45E.

Journal Of Dermatological Science

Lilly, Evelyn E; Strickler, Michael M; Milstone, Leonard M LM; Bunick, Christopher G CG

Publication Date: 2019-09

Variant appearance in text: GJB2: D50N

PubMed Link: 31331740

Variant Present in the following documents:

• Main text

View BVdb publication page

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An Integrated Approach to Unravel Hidradenitis Suppurativa Etiopathogenesis.

Frontiers In Immunology

Tricarico, Paola M PM; Boniotto, Michele M; Genovese, Giovanni G; Zouboulis, Christos C CC; Marzano, Angelo V AV; Crovella, Sergio S

Publication Date: 2019

Variant appearance in text: GJB2: D50N

PubMed Link: 31105704

Variant Present in the following documents:

• Main text
• fimmu-10-00892.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: GJB2: 148G>A; Asp50Asn

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family.

International Journal Of Dermatology

Shi, Xiaofeng X; Li, Dongya D; Chen, Min M; Liu, Yichen Y; Yan, Qi Q; Yu, Xianqiu X; Zhu, Yan Y; Li, Yumei Y

Publication Date: 2019-12

Variant appearance in text: GJB2: D50N

PubMed Link: 30620052

Variant Present in the following documents:

• IJD-58-1462.pdf

View BVdb publication page

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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: D50N

PubMed Link: 30466042

Variant Present in the following documents:

• Main text

View BVdb publication page

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Spectrum of GJB2 gene variants in Indian children with non-syndromic hearing loss.

The Indian Journal Of Medical Research

Singh, Pawan Kumar PK; Sharma, Shipra S; Ghosh, Manju M; Shastri, Shivaram S SS; Gupta, Neerja N; Kabra, Madhulika M

Publication Date: 2018-06

Variant appearance in text: GJB2: 148G>A

PubMed Link: 30168495

Variant Present in the following documents:

• Main text

View BVdb publication page

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Roles of aberrant hemichannel activities due to mutant connexin26 in the pathogenesis of KID syndrome.

Scientific Reports

Taki, T T; Takeichi, T T; Sugiura, K K; Akiyama, M M

Publication Date: 2018-08-27

Variant appearance in text: GJB2: D50N

PubMed Link: 30150638

Variant Present in the following documents:

• Main text
• 41598_2018_Article_30757.pdf

View BVdb publication page

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Visual impairment reversal with oral acitretin therapy in keratitis-ichthyosis-deafness (KID) syndrome.

Jaad Case Reports

Wolfe, Christopher M CM; Davis, Alexander A; Shaath, Tarek S TS; Cohen, George F GF

Publication Date: 2017-11

Variant appearance in text: GJB2: D50N

PubMed Link: 29159249

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Design and Characterization of a Human Monoclonal Antibody that Modulates Mutant Connexin 26 Hemichannels Implicated in Deafness and Skin Disorders.

Frontiers In Molecular Neuroscience

Xu, Liang L; Carrer, Andrea A; Zonta, Francesco F; Qu, Zhihu Z; Ma, Peixiang P; Li, Sheng S; Ceriani, Federico F; Buratto, Damiano D; Crispino, Giulia G; Zorzi, Veronica V; Ziraldo, Gaia G; Bruno, Francesca F; Nardin, Chiara C; Peres, Chiara C; Mazzarda, Flavia F; Salvatore, Anna M AM; Raspa, Marcello M; Scavizzi, Ferdinando F; Chu, Youjun Y; Xie, Sichun S; Yang, Xuemei X; Liao, Jun J; Liu, Xiao X; Wang, Wei W; Wang, Shanshan S; Yang, Guang G; Lerner, Richard A RA; Mammano, Fabio F

Publication Date: 2017

Variant appearance in text: GJB2: D50N

PubMed Link: 29018324

Variant Present in the following documents:

• Main text
• fnmol-10-00298.pdf

View BVdb publication page

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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: GJB2: 148G>A; Asp50Asn

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Human diseases associated with connexin mutations.

Biochimica Et Biophysica Acta. Biomembranes

Srinivas, Miduturu M; Verselis, Vytas K VK; White, Thomas W TW

Publication Date: 2018-01

Variant appearance in text: DFNB1: D50N

PubMed Link: 28457858

Variant Present in the following documents:

• Main text

View BVdb publication page

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Induction of cell death and gain-of-function properties of connexin26 mutants predict severity of skin disorders and hearing loss.

The Journal Of Biological Chemistry

Press, Eric R ER; Shao, Qing Q; Kelly, John J JJ; Chin, Katrina K; Alaga, Anton A; Laird, Dale W DW

Publication Date: 2017-06-09

Variant appearance in text: GJB2: D50N

PubMed Link: 28428247

Variant Present in the following documents:

• Main text

View BVdb publication page

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Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.

Human Molecular Genetics

Gudmundsson, Sanna S; Wilbe, Maria M; Ekvall, Sara S; Ameur, Adam A; Cahill, Nicola N; Alexandrov, Ludmil B LB; Virtanen, Marie M; Hellström Pigg, Maritta M; Vahlquist, Anders A; Törmä, Hans H; Bondeson, Marie-Louise ML

Publication Date: 2017-03-15

Variant appearance in text: GJB2: 148G>A; Asp50Asn

PubMed Link: 28158657

Variant Present in the following documents:

• Main text
• ddx017.pdf

View BVdb publication page

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Genetic and clinical analysis of nonsyndromic hearing impairment in pediatric and adult cases.

Balkan Journal Of Medical Genetics : Bjmg

Xing, J J; Liu, X X; Tian, Y Y; Tan, J J; Zhao, H H

Publication Date: 2016-07-01

Variant appearance in text: GJB2: D50N

PubMed Link: 27785406

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparative functional characterization of novel non-syndromic GJB2 gene variant p.Gly45Arg and lethal syndromic variant p.Gly45Glu.

Peerj

Rodriguez-Paris, Juan J; Waldhaus, Jörg J; Gordhandas, Jeenal A JA; Pique, Lynn L; Schrijver, Iris I

Publication Date: 2016

Variant appearance in text: GJB2: Asp50Asn

PubMed Link: 27761313

Variant Present in the following documents:

• Main text
• peerj-04-2494.pdf

View BVdb publication page

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Structural studies of N-terminal mutants of Connexin 26 and Connexin 32 using (1)H NMR spectroscopy.

Archives Of Biochemistry And Biophysics

Batir, Yuksel Y; Bargiello, Thaddeus A TA; Dowd, Terry L TL

Publication Date: 2016-10-15

Variant appearance in text: GJB2: D50N

PubMed Link: 27378082

Variant Present in the following documents:

• Main text

View BVdb publication page

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Syndromic deafness mutations at Asn 14 differentially alter the open stability of Cx26 hemichannels.

The Journal Of General Physiology

Sanchez, Helmuth A HA; Slavi, Nefeli N; Srinivas, Miduturu M; Verselis, Vytas K VK

Publication Date: 2016-07

Variant appearance in text: GJB2: D50N

PubMed Link: 27353444

Variant Present in the following documents:

• Main text

View BVdb publication page

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Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.

Bmc Medical Genetics

Dalamón, Viviana Karina VK; Buonfiglio, Paula P; Larralde, Margarita M; Craig, Patricio P; Lotersztein, Vanesa V; Choate, Keith K; Pallares, Norma N; Diamante, Vicente V; Elgoyhen, Ana Belén AB

Publication Date: 2016-05-04

Variant appearance in text: GJB2: Asp50Asn

PubMed Link: 27141831

Variant Present in the following documents:

• Main text
• 12881_2016_Article_298.pdf

View BVdb publication page

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Connexin channels in congenital skin disorders.

Seminars In Cell & Developmental Biology

Lilly, Evelyn E; Sellitto, Caterina C; Milstone, Leonard M LM; White, Thomas W TW

Publication Date: 2016-02

Variant appearance in text: GJB2: D50N

PubMed Link: 26775130

Variant Present in the following documents:

• Main text

View BVdb publication page

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Connexin26 Mutations Causing Palmoplantar Keratoderma and Deafness Interact with Connexin43, Modifying Gap Junction and Hemichannel Properties.

The Journal Of Investigative Dermatology

Shuja, Zunaira Z; Li, Leping L; Gupta, Shashank S; Meşe, Gülistan G; White, Thomas W TW

Publication Date: 2016-01

Variant appearance in text: GJB2: D50N

PubMed Link: 26763442

Variant Present in the following documents:

• nihms727513.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: rs28931594

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Connexin hemichannels influence genetically determined inflammatory and hyperproliferative skin diseases.

Pharmacological Research

Levit, Noah A NA; White, Thomas W TW

Publication Date: 2015-09

Variant appearance in text: GJB2: D50N

PubMed Link: 26211951

Variant Present in the following documents:

• Main text

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: GJB2: D50N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43.

The Journal Of Investigative Dermatology

García, Isaac E IE; Maripillán, Jaime J; Jara, Oscar O; Ceriani, Ricardo R; Palacios-Muñoz, Angelina A; Ramachandran, Jayalakshmi J; Olivero, Pablo P; Perez-Acle, Tomas T; González, Carlos C; Sáez, Juan C JC; Contreras, Jorge E JE; Martínez, Agustín D AD

Publication Date: 2015-05

Variant appearance in text: GJB2: D50N

PubMed Link: 25625422

Variant Present in the following documents:

• nihms657326.pdf

View BVdb publication page

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Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss.

Frontiers In Cellular Neuroscience

Sanchez, Helmuth A HA; Verselis, Vytas K VK

Publication Date: 2014

Variant appearance in text: GJB2: D50N

PubMed Link: 25386120

Variant Present in the following documents:

• Main text
• fncel-08-00354.pdf

View BVdb publication page

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Aberrant connexin26 hemichannels underlying keratitis-ichthyosis-deafness syndrome are potently inhibited by mefloquine.

The Journal Of Investigative Dermatology

Levit, Noah A NA; Sellitto, Caterina C; Wang, Hong-Zhan HZ; Li, Leping L; Srinivas, Miduturu M; Brink, Peter R PR; White, Thomas W TW

Publication Date: 2015-04

Variant appearance in text: GJB2: D50N

PubMed Link: 25229253

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans.

Omics : A Journal Of Integrative Biology

Bosch, Jason J; Noubiap, Jean Jacques N JJ; Dandara, Collet C; Makubalo, Nomlindo N; Wright, Galen G; Entfellner, Jean-Baka Domelevo JB; Tiffin, Nicki N; Wonkam, Ambroise A

Publication Date: 2014-11

Variant appearance in text: GJB2: Asp50Asn

PubMed Link: 25162826

Variant Present in the following documents:

• Main text

View BVdb publication page

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Altered inhibition of Cx26 hemichannels by pH and Zn2+ in the A40V mutation associated with keratitis-ichthyosis-deafness syndrome.

The Journal Of Biological Chemistry

Sanchez, Helmuth A HA; Bienkowski, Rick R; Slavi, Nefeli N; Srinivas, Miduturu M; Verselis, Vytas K VK

Publication Date: 2014-08-01

Variant appearance in text: GJB2: D50N

PubMed Link: 24939841

Variant Present in the following documents:

• Main text

View BVdb publication page

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Motifs in the permeation pathway of connexin channels mediate voltage and Ca (2+) sensing.

Frontiers In Physiology

Harris, Andrew L AL; Contreras, Jorge E JE

Publication Date: 2014

Variant appearance in text: GJB2: D50N

PubMed Link: 24744733

Variant Present in the following documents:

• fphys-05-00113.pdf

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Functional analysis and regulation of purified connexin hemichannels.

Frontiers In Physiology

Fiori, Mariana C MC; Reuss, Luis L; Cuello, Luis G LG; Altenberg, Guillermo A GA

Publication Date: 2014

Variant appearance in text: GJB2: D50N

PubMed Link: 24611052

Variant Present in the following documents:

• fphys-05-00071.pdf

View BVdb publication page

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