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: EGF: 3209C>T; Pro1070Leu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Magnesium and Calcium Homeostasis Depend on KCTD1 Function in the Distal Nephron.

Cell Reports

Marneros, Alexander G AG

Publication Date: 2021-01-12

Variant appearance in text: EGF: P1070L

PubMed Link: 33440155

Variant Present in the following documents:

• Main text

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Genetics of Magnesium Disorders.

Kidney Diseases (Basel, Switzerland)

Li, Heng H; Sun, Shiren S; Chen, Jianghua J; Xu, Goushuang G; Wang, Hanmin H; Qian, Qi Q

Publication Date: 2017-12

Variant appearance in text: EGF: 3209C>T; Pro1070Leu

PubMed Link: 29344503

Variant Present in the following documents:

• Main text

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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: EGF: P1070L

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Distal convoluted tubule.

Comprehensive Physiology

McCormick, James A JA; Ellison, David H DH

Publication Date: 2015-01

Variant appearance in text: EGF: P1070L

PubMed Link: 25589264

Variant Present in the following documents:

• Main text

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Characterizing mild cognitive impairment in incident Parkinson disease: the ICICLE-PD study.

Neurology

Yarnall, Alison J AJ; Breen, David P DP; Duncan, Gordon W GW; Khoo, Tien K TK; Coleman, Shirley Y SY; Firbank, Michael J MJ; Nombela, Cristina C; Winder-Rhodes, Sophie S; Evans, Jonathan R JR; Rowe, James B JB; Mollenhauer, Brit B; Kruse, Niels N; Hudson, Gavin G; Chinnery, Patrick F PF; O'Brien, John T JT; Robbins, Trevor W TW; Wesnes, Keith K; Brooks, David J DJ; Barker, Roger A RA; Burn, David J DJ; ,

Publication Date: 2014-01-28

Variant appearance in text: rs121434567

PubMed Link: 24363137

Variant Present in the following documents:

• Main text

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Epidermal growth factor cytoplasmic domain affects ErbB protein degradation by the lysosomal and ubiquitin-proteasome pathway in human cancer cells.

Neoplasia (New York, N.Y.)

Glogowska, Aleksandra A; Stetefeld, Jörg J; Weber, Ekkehard E; Ghavami, Saeid S; Hoang-Vu, Cuong C; Klonisch, Thomas T

Publication Date: 2012-05

Variant appearance in text: EGF: P1070L

PubMed Link: 22745586

Variant Present in the following documents:

• Main text

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Inherited forms of renal hypomagnesemia: an update.

Pediatric Nephrology (Berlin, Germany)

Knoers, Nine V A M NV

Publication Date: 2009-04

Variant appearance in text: EGF: P1070L

PubMed Link: 18818955

Variant Present in the following documents:

• Main text
• 467_2008_Article_968.pdf

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Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia.

The Journal Of Clinical Investigation

Groenestege, Wouter M Tiel WM; Thébault, Stéphanie S; van der Wijst, Jenny J; van den Berg, Dennis D; Janssen, Rob R; Tejpar, Sabine S; van den Heuvel, Lambertus P LP; van Cutsem, Eric E; Hoenderop, Joost G JG; Knoers, Nine V NV; Bindels, René J RJ

Publication Date: 2007-08

Variant appearance in text: EGF: P1070L

PubMed Link: 17671655

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When EGF is offside, magnesium is wasted.

The Journal Of Clinical Investigation

Muallem, Shmuel S; Moe, Orson W OW

Publication Date: 2007-08

Variant appearance in text: EGF: P1070L

PubMed Link: 17671646

Variant Present in the following documents:

• Main text

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