Publications:

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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: WFS1: 2084G>T; Gly695Val

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: WFS1: 2084G>T; Gly695Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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WFS1 functions in ER export of vesicular cargo proteins in pancreatic β-cells.

Nature Communications

Wang, Linlin L; Liu, Hongyang H; Zhang, Xiaofei X; Song, Eli E; Wang, You Y; Xu, Tao T; Li, Zonghong Z

Publication Date: 2021-11-30

Variant appearance in text: WFS1: G695V

PubMed Link: 34848728

Variant Present in the following documents:

• Main text
• 41467_2021_27344_MOESM2_ESM.pdf
• 41467_2021_Article_27344.pdf
• 41467_2021_27344_MOESM1_ESM.pdf

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WFS1 functions in ER export of vesicular cargo proteins in pancreatic β-cells.

Nature Communications

Wang, Linlin L; Liu, Hongyang H; Zhang, Xiaofei X; Song, Eli E; Wang, You Y; Xu, Tao T; Li, Zonghong Z

Publication Date: 2021-11-30

Variant appearance in text: WFS1: G695V

PubMed Link: 34848728

Variant Present in the following documents:

• Main text
• 41467_2021_27344_MOESM2_ESM.pdf
• 41467_2021_Article_27344.pdf
• 41467_2021_27344_MOESM1_ESM.pdf

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: WFS1: 2084G>T; G695V

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

View BVdb publication page

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Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.

Scientific Reports

La Morgia, Chiara C; Maresca, Alessandra A; Amore, Giulia G; Gramegna, Laura Ludovica LL; Carbonelli, Michele M; Scimonelli, Emanuela E; Danese, Alberto A; Patergnani, Simone S; Caporali, Leonardo L; Tagliavini, Francesca F; Del Dotto, Valentina V; Capristo, Mariantonietta M; Sadun, Federico F; Barboni, Piero P; Savini, Giacomo G; Evangelisti, Stefania S; Bianchini, Claudio C; Valentino, Maria Lucia ML; Liguori, Rocco R; Tonon, Caterina C; Giorgi, Carlotta C; Pinton, Paolo P; Lodi, Raffaele R; Carelli, Valerio V

Publication Date: 2020-03-16

Variant appearance in text: WFS1: 2084G>T

PubMed Link: 32179840

Variant Present in the following documents:

• Main text
• 41598_2020_Article_61735.pdf

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: WFS1: G695V; rs28937891

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.

Diabetes

De Franco, Elisa E; Flanagan, Sarah E SE; Yagi, Takuya T; Abreu, Damien D; Mahadevan, Jana J; Johnson, Matthew B MB; Jones, Garan G; Acosta, Fernanda F; Mulaudzi, Mphele M; Lek, Ngee N; Oh, Vera V; Petz, Oliver O; Caswell, Richard R; Ellard, Sian S; Urano, Fumihiko F; Hattersley, Andrew T AT

Publication Date: 2017-07

Variant appearance in text: WFS1: G695V

PubMed Link: 28468959

Variant Present in the following documents:

• Main text

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: WFS1: G695V; rs28937891

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.

Scientific Reports

Qian, Xuli X; Qin, Luyang L; Xing, Guangqian G; Cao, Xin X

Publication Date: 2015-10-05

Variant appearance in text: WFS1: 2084G>T; rs28937891

PubMed Link: 26435059

Variant Present in the following documents:

• Main text
• srep14731.pdf

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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: WFS1: G695V; rs28937891

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2
• 12859_2015_673_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Calcium efflux from the endoplasmic reticulum leads to β-cell death.

Endocrinology

Hara, Takashi T; Mahadevan, Jana J; Kanekura, Kohsuke K; Hara, Mariko M; Lu, Simin S; Urano, Fumihiko F

Publication Date: 2014-03

Variant appearance in text: WFS1: G695V

PubMed Link: 24424032

Variant Present in the following documents:

• Main text

View BVdb publication page

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β-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome.

Diabetes

Shang, Linshan L; Hua, Haiqing H; Foo, Kylie K; Martinez, Hector H; Watanabe, Kazuhisa K; Zimmer, Matthew M; Kahler, David J DJ; Freeby, Matthew M; Chung, Wendy W; LeDuc, Charles C; Goland, Robin R; Leibel, Rudolph L RL; Egli, Dieter D

Publication Date: 2014-03

Variant appearance in text: WFS1: G695V

PubMed Link: 24227685

Variant Present in the following documents:

• Main text
• supp_db13-0717_DB130717SupplementaryData.pdf
• 923.pdf

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Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion.

Nature Cell Biology

Fonseca, Sonya G SG; Urano, Fumihiko F; Weir, Gordon C GC; Gromada, Jesper J; Burcin, Mark M

Publication Date: 2012-10

Variant appearance in text: WFS1: G695V

PubMed Link: 22983116

Variant Present in the following documents:

• Main text

View BVdb publication page

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Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells.

The Journal Of Clinical Investigation

Fonseca, Sonya G SG; Ishigaki, Shinsuke S; Oslowski, Christine M CM; Lu, Simin S; Lipson, Kathryn L KL; Ghosh, Rajarshi R; Hayashi, Emiko E; Ishihara, Hisamitsu H; Oka, Yoshitomo Y; Permutt, M Alan MA; Urano, Fumihiko F

Publication Date: 2010-03

Variant appearance in text: WFS1: G695V

PubMed Link: 20160352

Variant Present in the following documents:

• Main text

View BVdb publication page

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