Publications:

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The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia).

Genes

Pshennikova, Vera G VG; Teryutin, Fedor M FM; Cherdonova, Alexandra M AM; Borisova, Tuyara V TV; Solovyev, Aisen V AV; Romanov, Georgii P GP; Morozov, Igor V IV; Bondar, Alexander A AA; Posukh, Olga L OL; Fedorova, Sardana A SA; Barashkov, Nikolay A NA

Publication Date: 2023-04-28

Variant appearance in text: rs2274083

PubMed Link: 37239361

Variant Present in the following documents:

• Main text
• genes-14-01001.pdf

View BVdb publication page

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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: 341A>G; Glu114Gly

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss.

Journal Of Personalized Medicine

Markova, Tatiana T; Alekseeva, Natalia N; Lalayants, Maria M; Ryzhkova, Oxana O; Shatokhina, Olga O; Galeeva, Nailya N; Bliznetz, Elena E; Belov, Oleg O; Chibisova, Svetlana S; Polyakov, Alexander A; Tavartkiladze, George G

Publication Date: 2022-11-04

Variant appearance in text: GJB2: Glu114Gly

PubMed Link: 36579563

Variant Present in the following documents:

• jpm-12-01843.pdf

View BVdb publication page

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Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.

Scientific Reports

Zhao, Jing J; Zhang, Siqi S; Jiang, Yuan Y; Liu, Yan Y; Wang, Jiantao J; Zhu, QingWen Q

Publication Date: 2022-12-23

Variant appearance in text: GJB2: 341A>G; Glu114Gly; rs2274083

PubMed Link: 36564540

Variant Present in the following documents:

• 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Plos One

Lei, Peiliang P; Zhu, Qingwen Q; Dong, Wenrong W; Zhang, Siqi S; Sun, Yanyan Y; Du, Xitong X; Geng, Meng M; Jiang, Yuan Y

Publication Date: 2022

Variant appearance in text: GJB2: 341A>G; Glu114Gly; rs2274083

PubMed Link: 36350814

Variant Present in the following documents:

• pone.0276233.s004.xlsx, sheet 1

View BVdb publication page

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Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Plos One

Ueda, Atsushi A; Osawa, Motoki M; Naito, Haruaki H; Ochiai, Eriko E; Kakimoto, Yu Y

Publication Date: 2022

Variant appearance in text: GJB2: 341A>G; Glu114Gly; rs2274083

PubMed Link: 35486589

Variant Present in the following documents:

• pone.0267751.s001.xls, sheet 1

View BVdb publication page

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Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: GJB2: E114G

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Frontiers In Cell And Developmental Biology

Zhu, Yi-Ming YM; Li, Qi Q; Gao, Xue X; Li, Yan-Fei YF; Liu, You-Li YL; Dai, Pu P; Li, Xiang-Ping XP

Publication Date: 2021

Variant appearance in text: GJB2: 341A>G; E114G; rs2274083

PubMed Link: 34692690

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.

Journal Of Clinical Laboratory Analysis

Abbaspour Rodbaneh, Ehsan E; Panahi, Mohammad M; Rahimi, Bahareh B; Mokabber, Haleh H; Farajollahi, Reza R; Davarnia, Behzad B

Publication Date: 2021-11

Variant appearance in text: GJB2: Glu114Gly

PubMed Link: 34581455

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome sequencing of de novo genetic variants in a Chinese family with a sporadic case of congenital nonsyndromic hearing loss.

F1000Research

Hu, Sijing S; Zhang, Hao H; Liu, Yunqiang Y; Liu, Mohan M; Li, Jingjing J; Liao, Shunyao S

Publication Date: 2021

Variant appearance in text: GJB2: 341A>G; rs2274083

PubMed Link: 34567527

Variant Present in the following documents:

• Main text
• f1000research-10-57079.pdf

View BVdb publication page

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Machine learning-based genetic diagnosis models for hereditary hearing loss by the GJB2, SLC26A4 and MT-RNR1 variants.

Ebiomedicine

Luo, Xiaomei X; Li, Fengmei F; Xu, Wenchang W; Hong, Kaicheng K; Yang, Tao T; Chen, Jiansheng J; Chen, Xiaohe X; Wu, Hao H

Publication Date: 2021-07

Variant appearance in text: GJB2: E114G

PubMed Link: 34161886

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran.

Iranian Journal Of Public Health

Aliazami, Farnoush F; Farhud, Dariush D; Zarif-Yeganeh, Marjan M; Salehi, Siamak S; Hosseinipour, Azam A; Sasanfar, Roxana R; Eslami, Maryam M

Publication Date: 2020-11

Variant appearance in text: GJB2: E114G

PubMed Link: 33708733

Variant Present in the following documents:

• Main text
• IJPH-49-2128.pdf

View BVdb publication page

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Patient-derived organoids in cellulosic sponge model chemotherapy response of metastatic colorectal cancer.

Clinical And Translational Medicine

Xu, Yanjie Y; Chen, Jianjun J; Huang, Yizhou Y; Luo, Yang Y; Hsieh, An-Chih AC; Chen, Jianyi J; Li, Han H; Wei, Xunbin X; Gao, Wei-Qiang WQ; Zhong, Ming M; Zhang, Yan Y

Publication Date: 2021-01

Variant appearance in text: GJB2: E114G; rs2274083

PubMed Link: 33463056

Variant Present in the following documents:

• CTM2-11-e285-s003.xlsx, sheet 9

View BVdb publication page

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Genetics of Hearing Impairment in North-Eastern Romania-A Cost-Effective Improved Diagnosis and Literature Review.

Genes

Resmerita, Irina I; Cozma, Romica Sebastian RS; Popescu, Roxana R; Radulescu, Luminita Mihaela LM; Panzaru, Monica Cristina MC; Butnariu, Lacramioara Ionela LI; Caba, Lavinia L; Ilie, Ovidiu-Dumitru OD; Gavril, Eva-Cristiana EC; Gorduza, Eusebiu Vlad EV; Rusu, Cristina C

Publication Date: 2020-12-15

Variant appearance in text: GJB2: Glu114Gly

PubMed Link: 33333757

Variant Present in the following documents:

• Main text
• genes-11-01506.pdf

View BVdb publication page

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High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect.

Genes

Zytsar, Marina V MV; Bady-Khoo, Marita S MS; Danilchenko, Valeriia Yu VY; Maslova, Ekaterina A EA; Barashkov, Nikolay A NA; Morozov, Igor V IV; Bondar, Alexander A AA; Posukh, Olga L OL

Publication Date: 2020-07-21

Variant appearance in text: rs2274083

PubMed Link: 32708339

Variant Present in the following documents:

• Main text
• genes-11-00833.pdf

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: 341A>G

PubMed Link: 32090102

Variant Present in the following documents:

• 6370386.f1.xlsx, sheet 4

View BVdb publication page

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First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.

Turkish Archives Of Otorhinolaryngology

Özyılmaz, Berk B; Mercan, Gül Caner GC; Kırbıyık, Özgür Ö; Özdemir, Taha Reşid TR; Özkara, Samira S; Kaya, Özge Özer ÖÖ; Kutbay, Yaşar Bekir YB; Erdoğan, Kadri Murat KM; Güvenç, Merve Saka MS; Koç, Altuğ A

Publication Date: 2019-09

Variant appearance in text: GJB2: 341A>G

PubMed Link: 31620696

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations.

Journal Of Audiology & Otology

Koohiyan, Mahbobeh M; Azadegan-Dehkordi, Fatemeh F; Koohian, Farideh F; Hashemzadeh-Chaleshtori, Morteza M

Publication Date: 2019-10

Variant appearance in text: GJB2: 341A>G

PubMed Link: 31569309

Variant Present in the following documents:

• Main text
• jao-2019-00059.pdf

View BVdb publication page

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Genetics of hereditary hearing loss in east Iran population: A systematic review of GJB2 mutations.

Intractable & Rare Diseases Research

Koohiyan, Mahbobeh M; Azadegan-Dehkordi, Fatemeh F; Koohian, Farideh F; Abolhasani, Marziye M; Hashemzadeh-Chaleshtori, Morteza M

Publication Date: 2019-08

Variant appearance in text: GJB2: 341A>G

PubMed Link: 31523594

Variant Present in the following documents:

• Main text

View BVdb publication page

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Unique Mutational Spectrum of the GJB2 Gene and its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys).

Genes

Posukh, Olga L OL; Zytsar, Marina V MV; Bady-Khoo, Marita S MS; Danilchenko, Valeria Yu VY; Maslova, Ekaterina A EA; Barashkov, Nikolay A NA; Bondar, Alexander A AA; Morozov, Igor V IV; Maximov, Vladimir N VN; Voevoda, Michael I MI

Publication Date: 2019-06-05

Variant appearance in text: GJB2: 341A>G; Glu114Gly; rs2274083

PubMed Link: 31195736

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A).

Thescientificworldjournal

Pshennikova, Vera G VG; Barashkov, Nikolay A NA; Romanov, Georgii P GP; Teryutin, Fedor M FM; Solov'ev, Aisen V AV; Gotovtsev, Nyurgun N NN; Nikanorova, Alena A AA; Nakhodkin, Sergey S SS; Sazonov, Nikolay N NN; Morozov, Igor V IV; Bondar, Alexander A AA; Dzhemileva, Lilya U LU; Khusnutdinova, Elza K EK; Posukh, Olga L OL; Fedorova, Sardana A SA

Publication Date: 2019

Variant appearance in text: GJB2: 341A>G; Glu114Gly; rs2274083

PubMed Link: 31015822

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gap Junction Protein Beta 2 Gene Variants and Non-Syndromic Hearing Impairment among Couples Referred For Prenatal Diagnosis in the Northeast of Iran.

Iranian Journal Of Otorhinolaryngology

Vojdani, Samaneh S; Jafarzadeh Esfehani, Reza R; Iranmanesh, Vahid V; Davari, Hafezeh H; Amini, Nafiseh N; Jaripour, Mohammad Ehsan ME; Zargari, Peyman P; Dastpak, Mahtab M; Sadrnabavi, Ariane A

Publication Date: 2019-03

Variant appearance in text: GJB2: 341A>G; Glu114Gly; rs2274083

PubMed Link: 30989077

Variant Present in the following documents:

• Main text
• ijo-31-109.pdf

View BVdb publication page

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Mutation analysis of common deafness genes among 1,201 patients with non-syndromic hearing loss in Shanxi Province.

Molecular Genetics & Genomic Medicine

Zhou, Yongan Y; Li, Chao C; Li, Min M; Zhao, Zhonghua Z; Tian, Shuxiong S; Xia, Hou H; Liu, Peixian P; Han, Yaxin Y; Ren, Ruirui R; Chen, Jianping J; Jia, Caihong C; Guo, Wei W

Publication Date: 2019-03

Variant appearance in text: GJB2: 341A>G; E114G

PubMed Link: 30693673

Variant Present in the following documents:

• Main text
• MGG3-7-na.pdf

View BVdb publication page

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Diagnostic pitfalls for GJB2-related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss.

Clinical Case Reports

Abe, Satoko S; Nishio, Shin-Ya SY; Yokota, Yoh Y; Moteki, Hideaki H; Kumakawa, Kozo K; Usami, Shin-Ichi SI

Publication Date: 2018-11

Variant appearance in text: GJB2: E114G

PubMed Link: 30455902

Variant Present in the following documents:

• Main text
• CCR3-6-2111.pdf

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: 341A>G

PubMed Link: 30168495

Variant Present in the following documents:

• Main text
• IJMR-147-615.pdf

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: GJB2: 341A>G; E114G; rs2274083

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7

View BVdb publication page

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DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

Frontiers In Molecular Neuroscience

Del Castillo, Francisco J FJ; Del Castillo, Ignacio I

Publication Date: 2017

Variant appearance in text: GJB2: Glu114Gly

PubMed Link: 29311818

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans.

International Journal Of Molecular Sciences

Kim, Ah Reum AR; Chung, Juyong J; Kim, Nayoung K D NKD; Lee, Chung C; Park, Woong-Yang WY; Oh, Doo-Yi DY; Choi, Byung Yoon BY

Publication Date: 2017-10-26

Variant appearance in text: GJB2: E114G

PubMed Link: 29072634

Variant Present in the following documents:

• Main text
• ijms-18-02246.pdf

View BVdb publication page

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Long Term Speech Perception Outcomes of Cochlear Implantation in Gap Junction Protein Beta 2 Related Hearing Loss.

Journal Of Audiology & Otology

Kim, Sung Hee SH; Nepali, Rajendra R; Yoo, Myung Hoon MH; Lee, Kwang-Sun KS; Chung, Jong Woo JW

Publication Date: 2017-07

Variant appearance in text: GJB2: E114G

PubMed Link: 28704896

Variant Present in the following documents:

• Main text
• jao-2017-21-2-95.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2274083

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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: 341A>G; Glu114Gly

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: GJB2: E114G; rs2274083

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Association between the p.V37I variant of GJB2 and hearing loss: a pedigree and meta-analysis.

Oncotarget

Shen, Na N; Peng, Jing J; Wang, Xiong X; Zhu, Yaowu Y; Liu, Weiyong W; Liu, Aiguo A; Lu, Yanjun Y

Publication Date: 2017-07-11

Variant appearance in text: GJB2: E114G

PubMed Link: 28489599

Variant Present in the following documents:

• Main text

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: E114G

PubMed Link: 27785406

Variant Present in the following documents:

• Main text
• bjmg-2016-0005.pdf

View BVdb publication page

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Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic).

Plos One

Barashkov, Nikolay A NA; Pshennikova, Vera G VG; Posukh, Olga L OL; Teryutin, Fedor M FM; Solovyev, Aisen V AV; Klarov, Leonid A LA; Romanov, Georgii P GP; Gotovtsev, Nyurgun N NN; Kozhevnikov, Andrey A AA; Kirillina, Elena V EV; Sidorova, Oksana G OG; Vasilyevа, Lena M LM; Fedotova, Elvira E EE; Morozov, Igor V IV; Bondar, Alexander A AA; Solovyevа, Natalya A NA; Kononova, Sardana K SK; Rafailov, Adyum M AM; Sazonov, Nikolay N NN; Alekseev, Anatoliy N AN; Tomsky, Mikhail I MI; Dzhemileva, Lilya U LU; Khusnutdinova, Elza K EK; Fedorova, Sardana A SA

Publication Date: 2016

Variant appearance in text: GJB2: 341A>G; Glu114Gly

PubMed Link: 27224056

Variant Present in the following documents:

• Main text
• pone.0156300.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: rs2274083

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: GJB2: 341A>G; E114G; rs2274083

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 4
• pone.0140684.s004.xlsx, sheet 5
• pone.0140684.s004.xlsx, sheet 2

View BVdb publication page

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Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology.

Bmc Medical Genetics

Svidnicki, Maria Carolina Costa Melo MC; Silva-Costa, Sueli Matilde SM; Ramos, Priscila Zonzini PZ; dos Santos, Nathalia Zocal Pereira NZ; Martins, Fábio Tadeu Arrojo FT; Castilho, Arthur Menino AM; Sartorato, Edi Lúcia EL

Publication Date: 2015-09-23

Variant appearance in text: GJB2: E114G

PubMed Link: 26399936

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cordblood-Based High-Throughput Screening for Deafness Gene of 646 Newborns in Jinan Area of China.

Clinical And Experimental Otorhinolaryngology

Li, Shou-Xia SX; Chen, Ding-Li DL; Zhao, Su-Bin SB; Guo, Li-Li LL; Feng, Hai-Qin HQ; Zhang, Xiao-Fang XF; Ping, Li-Li LL; Yang, Zhi-Ming ZM; Sun, Cai-Xia CX; Yao, Gen-Dong GD

Publication Date: 2015-09

Variant appearance in text: GJB2: E114G

PubMed Link: 26330914

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China.

Plos One

Jiang, Yi Y; Huang, Shasha S; Deng, Tao T; Wu, Lihua L; Chen, Juan J; Kang, Dongyang D; Xu, Xiufeng X; Li, Ruiyu R; Han, Dongyi D; Dai, Pu P

Publication Date: 2015

Variant appearance in text: GJB2: 341A>G; E114G

PubMed Link: 26252218

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: E114G

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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Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population.

Journal Of Human Genetics

Taniguchi, Mirei M; Matsuo, Hirotaka H; Shimizu, Seiko S; Nakayama, Akiyoshi A; Suzuki, Koji K; Hamajima, Nobuyuki N; Shinomiya, Nariyoshi N; Nishio, Shinya S; Kosugi, Shinji S; Usami, Shin-Ichi S; Ito, Juichi J; Kitajiri, Shin-ichiro S

Publication Date: 2015-10

Variant appearance in text: GJB2: Glu114Gly

PubMed Link: 26178431

Variant Present in the following documents:

• Main text

View BVdb publication page

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Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene.

Experimental & Molecular Medicine

Kim, Juwon J; Jung, Jinsei J; Lee, Min Goo MG; Choi, Jae Young JY; Lee, Kyung-A KA

Publication Date: 2015-06-19

Variant appearance in text: GJB2: E114G

PubMed Link: 26088551

Variant Present in the following documents:

• Main text

View BVdb publication page

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GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.

Plos One

Zheng, Jing J; Ying, Zhengbiao Z; Cai, Zhaoyang Z; Sun, Dongmei D; He, Zheyun Z; Gao, Yinglong Y; Zhang, Ting T; Zhu, Yi Y; Chen, Ye Y; Guan, Min-Xin MX

Publication Date: 2015

Variant appearance in text: GJB2: 341A>G; E114G; rs2274083

PubMed Link: 26043044

Variant Present in the following documents:

• Main text

View BVdb publication page

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A rapid molecular approach for chromosomal phasing.

Plos One

Regan, John F JF; Kamitaki, Nolan N; Legler, Tina T; Cooper, Samantha S; Klitgord, Niels N; Karlin-Neumann, George G; Wong, Catherine C; Hodges, Shawn S; Koehler, Ryan R; Tzonev, Svilen S; McCarroll, Steven A SA

Publication Date: 2015

Variant appearance in text: GJB2: E114G

PubMed Link: 25739099

Variant Present in the following documents:

• pone.0118270.pdf

View BVdb publication page

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Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.

Genetic Testing And Molecular Biomarkers

Qing, Jie J; Zhou, Yuan Y; Lai, Ruosha R; Hu, Peng P; Ding, Yan Y; Wu, Weijing W; Xiao, Zian Z; Ho, Phi T PT; Liu, Yuyuan Y; Liu, Jia J; Du, Lilin L; Yan, Denise D; Goldstein, Bradley J BJ; Liu, Xuezhong X; Xie, Dinghua D

Publication Date: 2015-01

Variant appearance in text: GJB2: E114G

PubMed Link: 25493717

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: GJB2: E114G; rs2274083

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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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: 341A>G

PubMed Link: 25162826

Variant Present in the following documents:

• Main text

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Age-Related Hearing Impairment (ARHI) associated with GJB2 single mutation IVS1+1G>A in the Yakut population isolate in Eastern Siberia.

Plos One

Barashkov, Nikolay A NA; Teryutin, Fedor M FM; Pshennikova, Vera G VG; Solovyev, Aisen V AV; Klarov, Leonid A LA; Solovyeva, Natalya A NA; Kozhevnikov, Andrei A AA; Vasilyeva, Lena M LM; Fedotova, Elvira E EE; Pak, Maria V MV; Lekhanova, Sargylana N SN; Zakharova, Elena V EV; Savvinova, Kyunney E KE; Gotovtsev, Nyurgun N NN; Rafailo, Adyum M AM; Luginov, Nikolay V NV; Alexeev, Anatoliy N AN; Posukh, Olga L OL; Dzhemileva, Lilya U LU; Khusnutdinova, Elza K EK; Fedorova, Sardana A SA

Publication Date: 2014

Variant appearance in text: GJB2: Glu114Gly

PubMed Link: 24959830

Variant Present in the following documents:

• Main text

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Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis.

Plos Genetics

Ogawa, Yasushi Y; Takeichi, Takuya T; Kono, Michihiro M; Hamajima, Nobuyuki N; Yamamoto, Toshimichi T; Sugiura, Kazumitsu K; Akiyama, Masashi M

Publication Date: 2014-05

Variant appearance in text: GJB2: 341A>G; rs2274083

PubMed Link: 24785414

Variant Present in the following documents:

• Main text
• pgen.1004276.pdf

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Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum.

Journal Of Translational Medicine

Chen, Kaitian K; Zong, Ling L; Liu, Min M; Wang, Xianren X; Zhou, Wei W; Zhan, Yuan Y; Cao, Hui H; Dong, Chang C; Tang, Haocheng H; Jiang, Hongyan H

Publication Date: 2014-03-11

Variant appearance in text: GJB2: 341A>G

PubMed Link: 24612839

Variant Present in the following documents:

• Main text
• 1479-5876-12-64.pdf

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: GJB2: E114G; rs2274083

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2
• mmc5.xlsx, sheet 3

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