Publications:

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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: 98A>G; Asp33Gly

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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Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.

Journal Of Personalized Medicine

Jurickova, Katarina K; Jungova, Petra P; Petrovic, Robert R; Mattosova, Slavomira S; Hlavata, Tereza T; Kostalova, Ludmila L; Hlavata, Anna A

Publication Date: 2022-06-01

Variant appearance in text: GLA: 98A>G; D33G

PubMed Link: 35743707

Variant Present in the following documents:

• jpm-12-00922.pdf

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In Vitro and In Vivo Amenability to Migalastat in Fabry Disease.

Molecular Therapy. Methods & Clinical Development

Lenders, Malte M; Stappers, Franciska F; Brand, Eva E

Publication Date: 2020-12-11

Variant appearance in text: GLA: D33G

PubMed Link: 32995357

Variant Present in the following documents:

• Main text
• main.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: GLA: 98A>G; Asp33Gly

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 3
• aba1773_Data_file_S1.xlsx, sheet 2

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Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss.

Journal Of The American Society Of Nephrology : Jasn

Najafian, Behzad B; Tøndel, Camilla C; Svarstad, Einar E; Gubler, Marie-Claire MC; Oliveira, João-Paulo JP; Mauer, Michael M

Publication Date: 2020-04

Variant appearance in text: GLA: 98A>G; Asp33Gly

PubMed Link: 32127409

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

International Journal Of Molecular Sciences

Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A

Publication Date: 2020-01-31

Variant appearance in text: GLA: 98A>G; D33G

PubMed Link: 32023956

Variant Present in the following documents:

• Main text
• ijms-21-00956.pdf

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Effectiveness of immunosuppressive therapy for nephrotic syndrome in a patient with late-onset Fabry disease: a case report and literature review.

Bmc Nephrology

Fujisawa, Hironobu H; Nakayama, Yosuke Y; Nakao, Shoichiro S; Yamamoto, Ryo R; Kurokawa, Yuka Y; Nakamura, Nao N; Nagata, Akiko A; Tsukimura, Takahiro T; Togawa, Tadayasu T; Sakuraba, Hitoshi H; Fukami, Kei K

Publication Date: 2019-12-17

Variant appearance in text: GLA: D33G

PubMed Link: 31847900

Variant Present in the following documents:

• Main text
• 12882_2019_Article_1657.pdf

View BVdb publication page

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Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.

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

Germain, Dominique P DP; Nicholls, Kathy K; Giugliani, Roberto R; Bichet, Daniel G DG; Hughes, Derralynn A DA; Barisoni, Laura M LM; Colvin, Robert B RB; Jennette, J Charles JC; Skuban, Nina N; Castelli, Jeffrey P JP; Benjamin, Elfrida E; Barth, Jay A JA; Viereck, Christopher C

Publication Date: 2019-09

Variant appearance in text: GLA: 98A>G; Asp33Gly

PubMed Link: 30723321

Variant Present in the following documents:

• Main text
• 41436_2019_Article_451.pdf

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In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses.

International Journal Of Molecular Sciences

Duarte, Ana Joana AJ; Ribeiro, Diogo D; Moreira, Luciana L; Amaral, Olga O

Publication Date: 2018-10-31

Variant appearance in text: GLA: D33G; rs869312136

PubMed Link: 30384423

Variant Present in the following documents:

• Main text
• ijms-19-03409.pdf

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Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment.

Journal Of Medical Genetics

Mauer, Michael M; Sokolovskiy, Alexey A; Barth, Jay A JA; Castelli, Jeffrey P JP; Williams, Hadis N HN; Benjamin, Elfrida R ER; Najafian, Behzad B

Publication Date: 2017-11

Variant appearance in text: GLA: 98A>G; D33G

PubMed Link: 28756410

Variant Present in the following documents:

• Main text

View BVdb publication page

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Expression of uPAR in Urinary Podocytes of Patients with Fabry Disease.

International Journal Of Nephrology

Trimarchi, Hernán H; Canzonieri, Romina R; Schiel, Amalia A; Politei, Juan J; Costales-Collaguazo, Cristian C; Stern, Aníbal A; Paulero, Matías M; Rengel, Tatiana T; Valiño-Rivas, Lara L; Forrester, Mariano M; Lombi, Fernando F; Pomeranz, Vanesa V; Iriarte, Romina R; Muryan, Alexis A; Ortiz, Alberto A; Sanchez-Niño, María Dolores MD; Zotta, Elsa E

Publication Date: 2017

Variant appearance in text: GLA: D33G

PubMed Link: 28523190

Variant Present in the following documents:

• Main text
• IJN2017-1287289.pdf

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Increased urinary CD80 excretion and podocyturia in Fabry disease.

Journal Of Translational Medicine

Trimarchi, H H; Canzonieri, R R; Schiel, A A; Costales-Collaguazo, C C; Politei, J J; Stern, A A; Paulero, M M; Rengel, T T; Andrews, J J; Forrester, M M; Lombi, M M; Pomeranz, V V; Iriarte, R R; Muryan, A A; Zotta, E E; Sanchez-Niño, M D MD; Ortiz, A A

Publication Date: 2016-10-13

Variant appearance in text: GLA: D33G

PubMed Link: 27733175

Variant Present in the following documents:

• Main text
• 12967_2016_Article_1049.pdf

View BVdb publication page

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