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: D50Y

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>T; Asp50Tyr

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: 148G>T; Asp50Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: D50Y

PubMed Link: 35806342

Variant Present in the following documents:

• ijms-23-07337.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: D50Y

PubMed Link: 34916582

Variant Present in the following documents:

• 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: D50Y

PubMed Link: 34916582

Variant Present in the following documents:

• 41598_2021_Article_3627.pdf

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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: Asp50Tyr

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: Asp50Tyr

PubMed Link: 33443819

Variant Present in the following documents:

• Main text
• MGG3-9-e1574.pdf

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Novel Variant c.148G>T of GJB2 Gene in a 5-Year-Old Child with KID Syndrome.

Indian Dermatology Online Journal

Caroppo, Francesca F; Szekely, Serena S; Fortina, Anna B AB

Publication Date: 2020

Variant appearance in text: GJB2: 148G>T; Asp50Tyr

PubMed Link: 33344363

Variant Present in the following documents:

• Main text
• IDOJ-11-1014.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: Asp50Tyr

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: 148G>T; D50Y

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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Assessment of Gap Junction Protein Beta-2 rs3751385 Gene Polymorphism in Psoriasis Vulgaris.

Journal Of Clinical Medicine Research

Stylianaki, Elli-Anna EA; Karpouzis, Anthony A; Tripsianis, Gregory G; Veletza, Stavroula S

Publication Date: 2019-09

Variant appearance in text: GJB2: D50Y

PubMed Link: 31523338

Variant Present in the following documents:

• Main text
• jocmr-11-642.pdf

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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: D50Y

PubMed Link: 30150638

Variant Present in the following documents:

• 41598_2018_Article_30757.pdf

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Transient elevation of cytoplasmic calcium ion concentration at a single cell level precedes morphological changes of epidermal keratinocytes during cornification.

Scientific Reports

Murata, Teruasa T; Honda, Tetsuya T; Egawa, Gyohei G; Yamamoto, Yasuo Y; Ichijo, Ryo R; Toyoshima, Fumiko F; Dainichi, Teruki T; Kabashima, Kenji K

Publication Date: 2018-04-26

Variant appearance in text: GJB2: D50Y

PubMed Link: 29700333

Variant Present in the following documents:

• 41598_2018_Article_24899.pdf

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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: D50Y

PubMed Link: 29018324

Variant Present in the following documents:

• Main text
• fnmol-10-00298.pdf

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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: Asp50Tyr

PubMed Link: 27141831

Variant Present in the following documents:

• Main text

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Altered cellular localization and hemichannel activities of KID syndrome associated connexin26 I30N and D50Y mutations.

Bmc Cell Biology

Aypek, Hande H; Bay, Veysel V; Meşe, Gülistan G

Publication Date: 2016-02-02

Variant appearance in text: GJB2: D50Y

PubMed Link: 26831144

Variant Present in the following documents:

• Main text
• 12860_2016_Article_81.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: rs28931594

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: D50Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.

Current Genomics

Iossa, Sandra S; Marciano, Elio E; Franzé, Annamaria A

Publication Date: 2011-11

Variant appearance in text: GJB2: D50Y

PubMed Link: 22547955

Variant Present in the following documents:

• Main text
• CG-12-475.pdf

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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: 148G>T

PubMed Link: 21484990

Variant Present in the following documents:

• Main text

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Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome.

The Journal Of General Physiology

Sánchez, Helmuth A HA; Mese, Gülistan G; Srinivas, Miduturu M; White, Thomas W TW; Verselis, Vytas K VK

Publication Date: 2010-07

Variant appearance in text: GJB2: D50Y

PubMed Link: 20584891

Variant Present in the following documents:

• Main text
• JGP_201010433.pdf

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: GJB2: D50Y

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 2

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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: D50Y

PubMed Link: 18837651

Variant Present in the following documents:

• Main text

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