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: UMOD: 443G>A; Cys148Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.

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

Olinger, Eric E; Schaeffer, Céline C; Kidd, Kendrah K; Elhassan, Elhussein A E EAE; Cheng, Yurong Y; Dufour, Inès I; Schiano, Guglielmo G; Mabillard, Holly H; Pasqualetto, Elena E; Hofmann, Patrick P; Fuster, Daniel G DG; Kistler, Andreas D AD; Wilson, Ian J IJ; Kmoch, Stanislav S; Raymond, Laure L; Robert, Thomas T; , ; Eckardt, Kai-Uwe KU; Bleyer, Anthony J AJ; Köttgen, Anna A; Conlon, Peter J PJ; Wiesener, Michael M; Sayer, John A JA; Rampoldi, Luca L; Devuyst, Olivier O

Publication Date: 2022-08-16

Variant appearance in text: UMOD: 443G>A; Cys148Tyr

PubMed Link: 35947615

Variant Present in the following documents:

• pnas.2114734119.sapp.pdf

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Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations.

Kidney International Reports

Kidd, Kendrah K; Vylet'al, Petr P; Schaeffer, Céline C; Olinger, Eric E; Živná, Martina M; Hodaňová, Kateřina K; Robins, Victoria V; Johnson, Emily E; Taylor, Abbigail A; Martin, Lauren L; Izzi, Claudia C; Jorge, Sofia C SC; Calado, Joaquim J; Torres, Rosa J RJ; Lhotta, Karl K; Steubl, Dominik D; Gale, Daniel P DP; Gast, Christine C; Gombos, Eva E; Ainsworth, Hannah C HC; Chen, Ying Maggie YM; Almeida, Jorge Reis JR; de Souza, Cintia Fernandes CF; Silveira, Catarina C; Raposeiro, Rita R; Weller, Nelson N; Conlon, Peter J PJ; Murray, Susan L SL; Benson, Katherine A KA; Cavalleri, Gianpiero L GL; Votruba, Miroslav M; Vrbacká, Alena A; Amoroso, Antonio A; Gianchino, Daniela D; Caridi, Gianluca G; Ghiggeri, Gian Marco GM; Divers, Jasmin J; Scolari, Francesco F; Devuyst, Olivier O; Rampoldi, Luca L; Kmoch, Stanislav S; Bleyer, Anthony J AJ

Publication Date: 2020-09

Variant appearance in text: UMOD: C148Y

PubMed Link: 32954071

Variant Present in the following documents:

• Main text
• mmc1.pdf
• main.pdf

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Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.

Bmc Nephrology

Gast, Christine C; Marinaki, Anthony A; Arenas-Hernandez, Monica M; Campbell, Sara S; Seaby, Eleanor G EG; Pengelly, Reuben J RJ; Gale, Daniel P DP; Connor, Thomas M TM; Bunyan, David J DJ; Hodaňová, Kateřina K; Živná, Martina M; Kmoch, Stanislav S; Ennis, Sarah S; Venkat-Raman, G G

Publication Date: 2018-10-30

Variant appearance in text: UMOD: 443G>A; Cys148Tyr

PubMed Link: 30376835

Variant Present in the following documents:

• Main text
• 12882_2018_Article_1107.pdf

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First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD.

Journal Of Molecular And Genetic Medicine : An International Journal Of Biomedical Research

Malakoutian, Tahereh T; Amouzegar, Atefeh A; Vali, Farzaneh F; Asgari, Mojgan M; Behnam, Babak B

Publication Date: 2016-06

Variant appearance in text: UMOD: 443G>A; Cys148Tyr

PubMed Link: 27489562

Variant Present in the following documents:

• Main text
• nihms805162.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: UMOD: C148Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: UMOD: C148Y

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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Association between genotype and phenotype in uromodulin-associated kidney disease.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Moskowitz, Jonathan L JL; Piret, Sian E SE; Lhotta, Karl K; Kitzler, Thomas M TM; Tashman, Adam P AP; Velez, Erin E; Thakker, Rajesh V RV; Kotanko, Peter P

Publication Date: 2013-08

Variant appearance in text: UMOD: Cys148Tyr; rs28934582

PubMed Link: 23723338

Variant Present in the following documents:

• Main text

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A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy.

Bmc Medical Genetics

Calado, Joaquim J; Gaspar, Augusta A; Clemente, Carla C; Rueff, José J

Publication Date: 2005-01-27

Variant appearance in text:

PubMed Link: 15673476

Variant Present in the following documents:

• Main text
• 1471-2350-6-5.pdf

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