Publications:

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Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.

Nature Communications

Liu, Qianying Q; Zhang, Xiang X; Huang, Hui H; Chen, Yuxin Y; Wang, Fang F; Hao, Aihua A; Zhan, Wuqiang W; Mao, Qiyu Q; Hu, Yuxia Y; Han, Lin L; Sun, Yifang Y; Zhang, Meng M; Liu, Zhimin Z; Li, Geng-Lin GL; Zhang, Weijia W; Shu, Yilai Y; Sun, Lei L; Chen, Zhenguo Z

Publication Date: 2023-05-25

Variant appearance in text: SLC26A4: 85G>C; Glu29Gln

PubMed Link: 37230976

Variant Present in the following documents:

• 41467_2023_38303_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia).

Genes

Danilchenko, Valeriia Yu VY; Zytsar, Marina V MV; Maslova, Ekaterina A EA; Orishchenko, Konstantin E KE; Posukh, Olga L OL

Publication Date: 2023-04-17

Variant appearance in text: SLC26A4: 85G>C

PubMed Link: 37107686

Variant Present in the following documents:

• Main text
• genes-14-00928.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: SLC26A4: 85G>C; Glu29Gln

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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Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.

International Journal Of Molecular Sciences

Shatokhina, Olga O; Galeeva, Nailya N; Stepanova, Anna A; Markova, Tatiana T; Lalayants, Maria M; Alekseeva, Natalia N; Tavarkiladze, George G; Markova, Tatiana T; Bessonova, Liudmila L; Petukhova, Marina M; Guseva, Daria D; Anisimova, Inga I; Polyakov, Alexander A; Ryzhkova, Oxana O; Bliznetz, Elena E

Publication Date: 2022-12-12

Variant appearance in text: SLC26A4: Glu29Gln

PubMed Link: 36555390

Variant Present in the following documents:

• Main text
• ijms-23-15748.pdf

View BVdb publication page

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Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies.

International Journal Of Molecular Sciences

Klarov, Leonid A LA; Pshennikova, Vera G VG; Romanov, Georgii P GP; Cherdonova, Aleksandra M AM; Solovyev, Aisen V AV; Teryutin, Fedor M FM; Luginov, Nikolay V NV; Kotlyarov, Petr M PM; Barashkov, Nikolay A NA

Publication Date: 2022-12-06

Variant appearance in text: SLC26A4: 85G>C

PubMed Link: 36499699

Variant Present in the following documents:

• Main text
• ijms-23-15372.pdf

View BVdb publication page

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Kidney ion handling genes and their interaction in blood pressure control.

Bioscience Reports

An, Caiyan C; Yang, Liuyi L; Han, Tengfei T; Song, Huazhong H; Li, Zichao Z; Zhang, Junjing J; Zhang, Kejin K

Publication Date: 2022-11-30

Variant appearance in text: SLC26A4: E29Q

PubMed Link: 36305246

Variant Present in the following documents:

• Main text
• bsr-42-bsr20220977.pdf

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: SLC26A4: 85G>C

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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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: SLC26A4: E29Q; rs111033205

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: SLC26A4: E29Q

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
• 13073_2021_964_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next-generation sequencing of the SLC26A4 gene.

Molecular Genetics & Genomic Medicine

Tian, Yongan Y; Xu, Hongen H; Liu, Danhua D; Zhang, Juanli J; Yang, Zengguang Z; Zhang, Sen S; Liu, Huanfei H; Li, Ruijun R; Tian, Yingtao Y; Zeng, Beiping B; Li, Tong T; Lin, Qianyu Q; Wang, Haili H; Li, Xiaohua X; Lu, Wei W; Shi, Ying Y; Zhang, Yan Y; Zhang, Hui H; Jiang, Chang C; Xu, Ying Y; Chen, Bei B; Liu, Jun J; Tang, Wenxue W

Publication Date: 2021-08

Variant appearance in text: SLC26A4: 85G>C; Glu29Gln

PubMed Link: 34170635

Variant Present in the following documents:

• Main text
• MGG3-9-e1734.pdf

View BVdb publication page

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Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next-generation sequencing of the SLC26A4 gene.

Molecular Genetics & Genomic Medicine

Tian, Yongan Y; Xu, Hongen H; Liu, Danhua D; Zhang, Juanli J; Yang, Zengguang Z; Zhang, Sen S; Liu, Huanfei H; Li, Ruijun R; Tian, Yingtao Y; Zeng, Beiping B; Li, Tong T; Lin, Qianyu Q; Wang, Haili H; Li, Xiaohua X; Lu, Wei W; Shi, Ying Y; Zhang, Yan Y; Zhang, Hui H; Jiang, Chang C; Xu, Ying Y; Chen, Bei B; Liu, Jun J; Tang, Wenxue W

Publication Date: 2021-08

Variant appearance in text: SLC26A4: 85G>C; Glu29Gln

PubMed Link: 34170635

Variant Present in the following documents:

• Main text
• MGG3-9-e1734.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: SLC26A4: 85G>C; Glu29Gln; rs111033205

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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: SLC26A4: 85G>C; Glu29Gln

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.

Scientific Reports

Baux, D D; Vaché, C C; Blanchet, C C; Willems, M M; Baudoin, C C; Moclyn, M M; Faugère, V V; Touraine, R R; Isidor, B B; Dupin-Deguine, D D; Nizon, M M; Vincent, M M; Mercier, S S; Calais, C C; García-García, G G; Azher, Z Z; Lambert, L L; Perdomo-Trujillo, Y Y; Giuliano, F F; Claustres, M M; Koenig, M M; Mondain, M M; Roux, A F AF

Publication Date: 2017-12-01

Variant appearance in text: SLC26A4: 85G>C; Glu29Gln; rs111033205

PubMed Link: 29196752

Variant Present in the following documents:

• 41598_2017_16846_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.

Journal Of Medical Genetics

Chattaraj, Parna P; Munjal, Tina T; Honda, Keiji K; Rendtorff, Nanna D ND; Ratay, Jessica S JS; Muskett, Julie A JA; Risso, Davide S DS; Roux, Isabelle I; Gertz, E Michael EM; Schäffer, Alejandro A AA; Friedman, Thomas B TB; Morell, Robert J RJ; Tranebjærg, Lisbeth L; Griffith, Andrew J AJ

Publication Date: 2017-10

Variant appearance in text: SLC26A4: Glu29Gln

PubMed Link: 28780564

Variant Present in the following documents:

• Main text

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: SLC26A4: 85G>C; Glu29Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.

Medicine

Lu, Ya-Jie YJ; Yao, Jun J; Wei, Qin-Jun QJ; Xing, Guang-Qian GQ; Cao, Xin X

Publication Date: 2015-12

Variant appearance in text: SLC26A4: E29Q

PubMed Link: 26683941

Variant Present in the following documents:

• Main text
• medi-94-e2248.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: DFNB4: E29Q

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: SLC26A4: E29Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss.

Peerj

Pique, Lynn M LM; Brennan, Marie-Luise ML; Davidson, Colin J CJ; Schaefer, Frederick F; Greinwald, John J; Schrijver, Iris I

Publication Date: 2014

Variant appearance in text: SLC26A4: E29Q

PubMed Link: 24860705

Variant Present in the following documents:

• Main text
• peerj-02-384.pdf

View BVdb publication page

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Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.

The Journal Of Molecular Diagnostics : Jmd

Chen, Neng N; Tranebjærg, Lisbeth L; Rendtorff, Nanna Dahl ND; Schrijver, Iris I

Publication Date: 2011-07

Variant appearance in text: SLC26A4: 85G>C

PubMed Link: 21704276

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.

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

Pera, Alejandra A; Dossena, Silvia S; Rodighiero, Simona S; Gandía, Marta M; Bottà, Guido G; Meyer, Giuliano G; Moreno, Felipe F; Nofziger, Charity C; Hernández-Chico, Concepción C; Paulmichl, Markus M

Publication Date: 2008-11-25

Variant appearance in text: SLC26A4: E29Q

PubMed Link: 19017801

Variant Present in the following documents:

• Main text

View BVdb publication page

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Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).

American Journal Of Human Genetics

Yang, Tao T; Vidarsson, Hilmar H; Rodrigo-Blomqvist, Sandra S; Rosengren, Sally S SS; Enerback, Sven S; Smith, Richard J H RJ

Publication Date: 2007-06

Variant appearance in text: SLC26A4: E29Q

PubMed Link: 17503324

Variant Present in the following documents:

• Main text

View BVdb publication page

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