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: ANGPTL3: 385G>T; Glu129Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Angiopoietin-Like Protein 3 (ANGPTL3) Modulates Lipoprotein Metabolism and Dyslipidemia.

International Journal Of Molecular Sciences

Chen, Pei-Yi PY; Gao, Wan-Yun WY; Liou, Je-Wen JW; Lin, Ching-Yen CY; Wu, Ming-Jiuan MJ; Yen, Jui-Hung JH

Publication Date: 2021-07-07

Variant appearance in text: ANGPTL3: E129X

PubMed Link: 34298929

Variant Present in the following documents:

• Main text
• ijms-22-07310.pdf

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Review of How Genetic Research on Segmental Progeroid Syndromes Has Documented Genomic Instability as a Hallmark of Aging But Let Us Now Pursue Antigeroid Syndromes!

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences

Martin, George M GM; Hisama, Fuki M FM; Oshima, Junko J

Publication Date: 2021-01-18

Variant appearance in text: ANGPTL3: Glu129*

PubMed Link: 33295962

Variant Present in the following documents:

• Main text

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Angiopoietin-like proteins as therapeutic targets for cardiovascular disease: focus on lipid disorders.

Expert Opinion On Therapeutic Targets

Morelli, Marco Bruno MB; Chavez, Christopher C; Santulli, Gaetano G

Publication Date: 2020-01

Variant appearance in text: ANGPTL3: E129X

PubMed Link: 31856617

Variant Present in the following documents:

• Main text

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Angiopoietin-Like 3: From Discovery to Therapeutic Gene Editing.

Jacc. Basic To Translational Science

Wang, Xiao X; Musunuru, Kiran K

Publication Date: 2019-10

Variant appearance in text: ANGPTL3: E129X

PubMed Link: 31709322

Variant Present in the following documents:

• Main text
• main.pdf

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Angiopoietin-like protein 3 (ANGPTL3) deficiency and familial combined hypolipidemia.

Journal Of Biomedical Research

Tarugi, Patrizia P; Bertolini, Stefano S; Calandra, Sebastiano S

Publication Date: 2019-04-22

Variant appearance in text: ANGPTL3: E129*

PubMed Link: 29752428

Variant Present in the following documents:

• Main text
• jbr-33-2-73.pdf

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New insights into ANGPLT3 in controlling lipoprotein metabolism and risk of cardiovascular diseases.

Lipids In Health And Disease

Su, Xin X; Peng, Dao-Quan DQ

Publication Date: 2018-01-15

Variant appearance in text: ANGPTL3: E129X

PubMed Link: 29334984

Variant Present in the following documents:

• Main text
• 12944_2018_Article_659.pdf

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ANGPLT3: A novel modulator of lipid metabolism.

Global Cardiology Science & Practice

Hassan, Mohamed M

Publication Date: 2017-03-31

Variant appearance in text: ANGPTL3: E129X

PubMed Link: 28971105

Variant Present in the following documents:

• Main text
• gcsp-2017-1-e201706.pdf

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What can we learn about lipoprotein metabolism and coronary heart disease from studying rare variants?

Current Opinion In Lipidology

Jeff, Janina M JM; Peloso, Gina M GM; Do, Ron R

Publication Date: 2016-04

Variant appearance in text: ANGPTL3: E129X

PubMed Link: 26844526

Variant Present in the following documents:

• Main text

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The role of ANGPTL3 in controlling lipoprotein metabolism.

Endocrine

Tikka, Anna A; Jauhiainen, Matti M

Publication Date: 2016-05

Variant appearance in text: ANGPTL3: E129*

PubMed Link: 26754661

Variant Present in the following documents:

• Main text
• 12020_2015_Article_838.pdf

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Hypobetalipoproteinemia and abetalipoproteinemia.

Current Opinion In Lipidology

Welty, Francine K FK

Publication Date: 2014-06

Variant appearance in text: ANGPTL3: E129X

PubMed Link: 24751931

Variant Present in the following documents:

• Main text

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Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis.

Journal Of Lipid Research

Minicocci, Ilenia I; Santini, Sara S; Cantisani, Vito V; Stitziel, Nathan N; Kathiresan, Sekar S; Arroyo, Juan Antonio JA; Martí, Gertrudis G; Pisciotta, Livia L; Noto, Davide D; Cefalù, Angelo B AB; Maranghi, Marianna M; Labbadia, Giancarlo G; Pigna, Giovanni G; Pannozzo, Fabio F; Ceci, Fabrizio F; Ciociola, Ester E; Bertolini, Stefano S; Calandra, Sebastiano S; Tarugi, Patrizia P; Averna, Maurizio M; Arca, Marcello M

Publication Date: 2013-12

Variant appearance in text: ANGPTL3: E129*

PubMed Link: 24058201

Variant Present in the following documents:

• Main text

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Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization.

The Journal Of Clinical Endocrinology And Metabolism

Minicocci, Ilenia I; Montali, Anna A; Robciuc, Marius Robert MR; Quagliarini, Fabiana F; Censi, Vincenzo V; Labbadia, Giancarlo G; Gabiati, Claudia C; Pigna, Giovanni G; Sepe, Maria Laura ML; Pannozzo, Fabio F; Lütjohann, Dieter D; Fazio, Sergio S; Jauhiainen, Matti M; Ehnholm, Christian C; Arca, Marcello M

Publication Date: 2012-07

Variant appearance in text: ANGPTL3: E129X

PubMed Link: 22659251

Variant Present in the following documents:

• Main text

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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research

Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC

Publication Date: 2011-11

Variant appearance in text: ANGPTL3: E129X

PubMed Link: 21862702

Variant Present in the following documents:

• Main text

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Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.

The New England Journal Of Medicine

Musunuru, Kiran K; Pirruccello, James P JP; Do, Ron R; Peloso, Gina M GM; Guiducci, Candace C; Sougnez, Carrie C; Garimella, Kiran V KV; Fisher, Sheila S; Abreu, Justin J; Barry, Andrew J AJ; Fennell, Tim T; Banks, Eric E; Ambrogio, Lauren L; Cibulskis, Kristian K; Kernytsky, Andrew A; Gonzalez, Elena E; Rudzicz, Nicholas N; Engert, James C JC; DePristo, Mark A MA; Daly, Mark J MJ; Cohen, Jonathan C JC; Hobbs, Helen H HH; Altshuler, David D; Schonfeld, Gustav G; Gabriel, Stacey B SB; Yue, Pin P; Kathiresan, Sekar S

Publication Date: 2010-12-02

Variant appearance in text: ANGPTL3: E129X

PubMed Link: 20942659

Variant Present in the following documents:

• Main text

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