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: S17F

PubMed Link: 37106706

Variant Present in the following documents:

• Main text
• biology-12-00505.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: 50C>T; Ser17Phe

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: S17F

PubMed Link: 36699003

Variant Present in the following documents:

• Main text
• fcell-10-1071202.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: S17F

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: S17F

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: S17F

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: S17F

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: Ser17Phe

PubMed Link: 33443819

Variant Present in the following documents:

• Main text
• MGG3-9-e1574.pdf

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GJB2 Mutations Linked to Hearing Loss Exhibit Differential Trafficking and Functional Defects as Revealed in Cochlear-Relevant Cells.

Frontiers In Cell And Developmental Biology

Beach, Rianne R; Abitbol, Julia M JM; Allman, Brian L BL; Esseltine, Jessica L JL; Shao, Qing Q; Laird, Dale W DW

Publication Date: 2020

Variant appearance in text: GJB2: S17F

PubMed Link: 32300592

Variant Present in the following documents:

• fcell-08-00215.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: Ser17Phe

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: 50C>T; S17F

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: S17F

PubMed Link: 31523338

Variant Present in the following documents:

• jocmr-11-642.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: S17F

PubMed Link: 31331740

Variant Present in the following documents:

• Main text

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More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations.

Journal Of The American Academy Of Dermatology

Lilly, Evelyn E; Bunick, Christopher G CG; Maley, Alexander M AM; Zhang, Shali S; Spraker, Mary K MK; Theos, Amy J AJ; Vivar, Karina L KL; Seminario-Vidal, Lucia L; Bennett, Adam E AE; Sidbury, Robert R; Ogawa, Yasushi Y; Akiyama, Masashi M; Binder, Barbara B; Hadj-Rabia, Smail S; Morotti, Raffaella A RA; Glusac, Earl J EJ; Choate, Keith A KA; Richard, Gabriele G; Milstone, Leonard M LM

Publication Date: 2019-03

Variant appearance in text: GJB2: S17F

PubMed Link: 30287322

Variant Present in the following documents:

• Main text

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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: S17F

PubMed Link: 29018324

Variant Present in the following documents:

• Main text
• fnmol-10-00298.pdf

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Disease-linked connexin26 S17F promotes volar skin abnormalities and mild wound healing defects in mice.

Cell Death & Disease

Press, Eric E; Alaga, Katanya C KC; Barr, Kevin K; Shao, Qing Q; Bosen, Felicitas F; Willecke, Klaus K; Laird, Dale W DW

Publication Date: 2017-06-01

Variant appearance in text: GJB2: S17F

PubMed Link: 28569788

Variant Present in the following documents:

• Main text

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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: GJB2: S17F

PubMed Link: 28457858

Variant Present in the following documents:

• Main text

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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: S17F

PubMed Link: 28428247

Variant Present in the following documents:

• Main text

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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: 50C>T; Ser17Phe

PubMed Link: 28158657

Variant Present in the following documents:

• Main text

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Connexin-Mediated Signaling in Nonsensory Cells Is Crucial for the Development of Sensory Inner Hair Cells in the Mouse Cochlea.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Johnson, Stuart L SL; Ceriani, Federico F; Houston, Oliver O; Polishchuk, Roman R; Polishchuk, Elena E; Crispino, Giulia G; Zorzi, Veronica V; Mammano, Fabio F; Marcotti, Walter W

Publication Date: 2017-01-11

Variant appearance in text: GJB2: S17F

PubMed Link: 28077706

Variant Present in the following documents:

• zns258.pdf

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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: S17F

PubMed Link: 27353444

Variant Present in the following documents:

• Main text

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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: Ser17Phe

PubMed Link: 27141831

Variant Present in the following documents:

• Main text
• 12881_2016_Article_298.pdf

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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: S17F

PubMed Link: 26763442

Variant Present in the following documents:

• Main text
• nihms727513.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: rs28929485

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Cx26 knockout predisposes the mammary gland to primary mammary tumors in a DMBA-induced mouse model of breast cancer.

Oncotarget

Stewart, Michael K G MK; Bechberger, John F JF; Welch, Ian I; Naus, Christian C CC; Laird, Dale W DW

Publication Date: 2015-11-10

Variant appearance in text: GJB2: S17F

PubMed Link: 26439696

Variant Present in the following documents:

• Main text

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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: S17F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics.

Journal Of Applied Genetics

Kutkowska-Kaźmierczak, Anna A; Niepokój, Katarzyna K; Wertheim-Tysarowska, Katarzyna K; Giza, Aleksandra A; Mordasewicz-Goliszewska, Maria M; Bal, Jerzy J; Obersztyn, Ewa E

Publication Date: 2015-08

Variant appearance in text: GJB2: Ser17Phe

PubMed Link: 25575739

Variant Present in the following documents:

• Main text
• 13353_2014_Article_266.pdf

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Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?

Case Reports In Hematology

Fozza, Claudio C; Poddie, Fausto F; Contini, Salvatore S; Galleu, Antonio A; Cottoni, Francesca F; Longinotti, Maurizio M; Cucca, Francesco F

Publication Date: 2011

Variant appearance in text:

PubMed Link: 22937313

Variant Present in the following documents:

• Main text
• CRIM.HEMATOLOGY2011-848461.pdf

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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: S17F

PubMed Link: 22547955

Variant Present in the following documents:

• Main text

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The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome.

Molecular Biology Of The Cell

Mese, Gulistan G; Sellitto, Caterina C; Li, Leping L; Wang, Hong-Zhan HZ; Valiunas, Virginijus V; Richard, Gabriele G; Brink, Peter R PR; White, Thomas W TW

Publication Date: 2011-12

Variant appearance in text: GJB2: S17F

PubMed Link: 22031297

Variant Present in the following documents:

• Main text
• 4776.pdf

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Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome.

Biochimica Et Biophysica Acta

Levit, Noah A NA; Mese, Gulistan G; Basaly, Mena-George R MG; White, Thomas W TW

Publication Date: 2012-08

Variant appearance in text: GJB2: S17F

PubMed Link: 21933663

Variant Present in the following documents:

• Main text

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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: 50C>T

PubMed Link: 21484990

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: S17F

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: S17F

PubMed Link: 18837651

Variant Present in the following documents:

• Main text

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A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26.

The American Journal Of Pathology

Arita, Ken K; Akiyama, Masashi M; Aizawa, Tomoyasu T; Umetsu, Yoshitaka Y; Segawa, Ikuo I; Goto, Maki M; Sawamura, Daisuke D; Demura, Makoto M; Kawano, Keiichi K; Shimizu, Hiroshi H

Publication Date: 2006-08

Variant appearance in text: GJB2: S17F

PubMed Link: 16877344

Variant Present in the following documents:

• Main text

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Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

American Journal Of Human Genetics

Paznekas, William A WA; Boyadjiev, Simeon A SA; Shapiro, Robert E RE; Daniels, Otto O; Wollnik, Bernd B; Keegan, Catherine E CE; Innis, Jeffrey W JW; Dinulos, Mary Beth MB; Christian, Cathy C; Hannibal, Mark C MC; Jabs, Ethylin Wang EW

Publication Date: 2003-02

Variant appearance in text: GJB2: S17F

PubMed Link: 12457340

Variant Present in the following documents:

• Main text

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