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: 2218G>A; Gly740Ser

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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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: 2218G>A; Gly740Ser

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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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: G740S

PubMed Link: 36305246

Variant Present in the following documents:

• Main text
• bsr-42-bsr20220977.pdf

View BVdb publication page

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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Patel, Mayher J MJ; DiStefano, Marina T MT; Oza, Andrea M AM; Hughes, Madeline Y MY; Wilcox, Emma H EH; Hemphill, Sarah E SE; Cushman, Brandon J BJ; Grant, Andrew R AR; Siegert, Rebecca K RK; Shen, Jun J; Chapin, Alex A; Boczek, Nicole J NJ; Schimmenti, Lisa A LA; Nara, Kiyomitsu K; Kenna, Margaret M; Azaiez, Hela H; Booth, Kevin T KT; Avraham, Karen B KB; Kremer, Hannie H; Griffith, Andrew J AJ; Rehm, Heidi L HL; Amr, Sami S SS; Tayoun, Ahmad N Abou ANA; ,

Publication Date: 2021-11

Variant appearance in text: SLC26A4: 2218G>A

PubMed Link: 34230634

Variant Present in the following documents:

• NIHMS1734674-supplement-Supplementary_Table_1.xlsx, sheet 1

View BVdb publication page

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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Patel, Mayher J MJ; DiStefano, Marina T MT; Oza, Andrea M AM; Hughes, Madeline Y MY; Wilcox, Emma H EH; Hemphill, Sarah E SE; Cushman, Brandon J BJ; Grant, Andrew R AR; Siegert, Rebecca K RK; Shen, Jun J; Chapin, Alex A; Boczek, Nicole J NJ; Schimmenti, Lisa A LA; Nara, Kiyomitsu K; Kenna, Margaret M; Azaiez, Hela H; Booth, Kevin T KT; Avraham, Karen B KB; Kremer, Hannie H; Griffith, Andrew J AJ; Rehm, Heidi L HL; Amr, Sami S SS; Tayoun, Ahmad N Abou ANA; ,

Publication Date: 2021-11

Variant appearance in text: SLC26A4: 2218G>A

PubMed Link: 34230634

Variant Present in the following documents:

• NIHMS1734674-supplement-Supplementary_Table_1.xlsx, sheet 1

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: SLC26A4: G740S

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 63

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: 2218G>A; Gly740Ser

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.

Scientific Reports

Rim, John Hoon JH; Lee, Joon Suk JS; Jung, Jinsei J; Lee, Ji Hyun JH; Lee, Seung-Tae ST; Choi, Jong Rak JR; Choi, Jae Young JY; Lee, Min Goo MG; Gee, Heon Yung HY

Publication Date: 2019-03-14

Variant appearance in text: SLC26A4: 2218G>A; Gly740Ser; rs17154353

PubMed Link: 30872718

Variant Present in the following documents:

• Main text
• 41598_2019_Article_41068.pdf

View BVdb publication page

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Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

American Journal Of Human Genetics

Azaiez, Hela H; Booth, Kevin T KT; Ephraim, Sean S SS; Crone, Bradley B; Black-Ziegelbein, Elizabeth A EA; Marini, Robert J RJ; Shearer, A Eliot AE; Sloan-Heggen, Christina M CM; Kolbe, Diana D; Casavant, Thomas T; Schnieders, Michael J MJ; Nishimura, Carla C; Braun, Terry T; Smith, Richard J H RJH

Publication Date: 2018-10-04

Variant appearance in text: SLC26A4: 2218G>A; Gly740Ser

PubMed Link: 30245029

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.

Bmc Medical Genetics

Nonose, Renata Watanabe RW; Lezirovitz, Karina K; de Mello Auricchio, Maria Teresa Balester MTB; Batissoco, Ana Carla AC; Yamamoto, Guilherme Lopes GL; Mingroni-Netto, Regina Célia RC

Publication Date: 2018-05-08

Variant appearance in text: SLC26A4: 2218G>A

PubMed Link: 29739340

Variant Present in the following documents:

• Main text
• 12881_2018_Article_585.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: SLC26A4: 2218G>A; Gly740Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: G740S; rs17154353

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: G740S

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: G740S

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: 2218G>A

PubMed Link: 21704276

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: SLC26A4: G740S

PubMed Link: 20668687

Variant Present in the following documents:

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: G740S

PubMed Link: 19017801

Variant Present in the following documents:

• Main text

View BVdb publication page

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