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: GLA: 290C>T; Ala97Val

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: GLA: 290C>T; Ala97Val

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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High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.

Diagnostics (Basel, Switzerland)

Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Nakamura, Kimitoshi K

Publication Date: 2021-09-27

Variant appearance in text: GLA: A97V

PubMed Link: 34679477

Variant Present in the following documents:

• Main text
• diagnostics-11-01779.pdf

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Erratum to: Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K

Publication Date: 2021-11-09

Variant appearance in text: GLA: Ala97Val

PubMed Link: 34535801

Variant Present in the following documents:

• Main text
• gfab234.pdf

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Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K

Publication Date: 2021-07-19

Variant appearance in text: GLA: Ala97Val

PubMed Link: 34282462

Variant Present in the following documents:

• gfaa324.pdf

View BVdb publication page

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Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K

Publication Date: 2021-12-31

Variant appearance in text: GLA: Ala97Val

PubMed Link: 34282462

Variant Present in the following documents:

• gfaa324.pdf

View BVdb publication page

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Newborn screening for Fabry disease in the western region of Japan.

Molecular Genetics And Metabolism Reports

Sawada, Takaaki T; Kido, Jun J; Yoshida, Shinichiro S; Sugawara, Keishin K; Momosaki, Ken K; Inoue, Takahito T; Tajima, Go G; Sawada, Hirotake H; Mastumoto, Shirou S; Endo, Fumio F; Hirose, Shinichi S; Nakamura, Kimitoshi K

Publication Date: 2020-03

Variant appearance in text: GLA: A97V

PubMed Link: 31956509

Variant Present in the following documents:

• Main text
• main.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: GLA: A97V

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.

Jimd Reports

Wilcox, William R WR; Feldt-Rasmussen, Ulla U; Martins, Ana Maria AM; Ortiz, Alberto A; Lemay, Roberta M RM; Jovanovic, Ana A; Germain, Dominique P DP; Varas, Carmen C; Nicholls, Katherine K; Weidemann, Frank F; Hopkin, Robert J RJ

Publication Date: 2018

Variant appearance in text: GLA: A97V

PubMed Link: 28510034

Variant Present in the following documents:

• Main text

View BVdb publication page

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Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy.

Plos One

Fall, Brent B; Scott, C Ronald CR; Mauer, Michael M; Shankland, Stuart S; Pippin, Jeffrey J; Jefferson, Jonathan A JA; Wallace, Eric E; Warnock, David D; Najafian, Behzad B

Publication Date: 2016

Variant appearance in text: GLA: A97V

PubMed Link: 27992580

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.

International Journal Of Molecular Sciences

Citro, Valentina V; Cammisa, Marco M; Liguori, Ludovica L; Cimmaruta, Chiara C; Lukas, Jan J; Cubellis, Maria Vittoria MV; Andreotti, Giuseppina G

Publication Date: 2016-12-01

Variant appearance in text: GLA: A97V

PubMed Link: 27916943

Variant Present in the following documents:

• Main text
• ijms-17-02010.pdf

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Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

Journal Of Medical Genetics

Hughes, Derralynn A DA; Nicholls, Kathleen K; Shankar, Suma P SP; Sunder-Plassmann, Gere G; Koeller, David D; Nedd, Khan K; Vockley, Gerard G; Hamazaki, Takashi T; Lachmann, Robin R; Ohashi, Toya T; Olivotto, Iacopo I; Sakai, Norio N; Deegan, Patrick P; Dimmock, David D; Eyskens, François F; Germain, Dominique P DP; Goker-Alpan, Ozlem O; Hachulla, Eric E; Jovanovic, Ana A; Lourenco, Charles M CM; Narita, Ichiei I; Thomas, Mark M; Wilcox, William R WR; Bichet, Daniel G DG; Schiffmann, Raphael R; Ludington, Elizabeth E; Viereck, Christopher C; Kirk, John J; Yu, Julie J; Johnson, Franklin F; Boudes, Pol P; Benjamin, Elfrida R ER; Lockhart, David J DJ; Barlow, Carrolee C; Skuban, Nina N; Castelli, Jeffrey P JP; Barth, Jay J; Feldt-Rasmussen, Ulla U

Publication Date: 2017-04

Variant appearance in text: GLA: A97V

PubMed Link: 27834756

Variant Present in the following documents:

• Main text
• jmedgenet-2016-104178supp001.pdf
• jmedgenet-2016-104178.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: GLA: A97V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

Plos One

Saito, Seiji S; Ohno, Kazuki K; Sakuraba, Hitoshi H

Publication Date: 2013

Variant appearance in text: GLA: A97V

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

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A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.

Human Mutation

Wu, Xiaoyang X; Katz, Evan E; Della Valle, Maria Cecilia MC; Mascioli, Kirsten K; Flanagan, John J JJ; Castelli, Jeffrey P JP; Schiffmann, Raphael R; Boudes, Pol P; Lockhart, David J DJ; Valenzano, Kenneth J KJ; Benjamin, Elfrida R ER

Publication Date: 2011-08

Variant appearance in text: GLA: 290C>T; A97V

PubMed Link: 21598360

Variant Present in the following documents:

• Main text
• humu0032-0965.pdf

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Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells.

Journal Of Lipid Research

Kaneski, Christine R CR; Schiffmann, Raphael R; Brady, Roscoe O RO; Murray, Gary J GJ

Publication Date: 2010-09

Variant appearance in text: GLA: A97V

PubMed Link: 20526001

Variant Present in the following documents:

• Main text

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Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.

The Biochemical Journal

Ishii, Satoshi S; Chang, Hui-Hwa HH; Kawasaki, Kunito K; Yasuda, Kayo K; Wu, Hui-Li HL; Garman, Scott C SC; Fan, Jian-Qiang JQ

Publication Date: 2007-09-01

Variant appearance in text: GLA: A97V

PubMed Link: 17555407

Variant Present in the following documents:

• Main text

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Screening for pharmacological chaperones in Fabry disease.

Biochemical And Biophysical Research Communications

Shin, Sang-Hoon SH; Murray, Gary J GJ; Kluepfel-Stahl, Stefanie S; Cooney, Adele M AM; Quirk, Jane M JM; Schiffmann, Raphael R; Brady, Roscoe O RO; Kaneski, Christine R CR

Publication Date: 2007-07-20

Variant appearance in text: GLA: 290C>T; A97V

PubMed Link: 17532296

Variant Present in the following documents:

• Main text

View BVdb publication page

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