Publications:

---

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: PPARG: 496C>T; Arg166Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

High Expression Level of PPARγ in CD24 Knockout Mice and Gender-Specific Metabolic Changes: A Model of Insulin-Sensitive Obesity.

Journal Of Personalized Medicine

Shapira, Shiran S; Kazanov, Dina D; Dankner, Rachel R; Fishman, Sigal S; Stern, Naftali N; Arber, Nadir N

Publication Date: 2021-01-15

Variant appearance in text: PPARG2: R166W

PubMed Link: 33467499

Variant Present in the following documents:

• jpm-11-00050.pdf

View BVdb publication page

---

Association of Peroxisome Proliferator-Activated Receptors (PPARs) with Diabetic Retinopathy in Human and Animal Models: Analysis of the Literature and Genome Browsers.

Ppar Research

Tajnšek, Špela Š; Petrovič, Danijel D; Globočnik Petrovič, Mojca M; Kunej, Tanja T

Publication Date: 2020

Variant appearance in text: rs121909246

PubMed Link: 32190036

Variant Present in the following documents:

• Main text
• PPAR2020-1783564.pdf

View BVdb publication page

---

Efficacy of Metreleptin Treatment in Familial Partial Lipodystrophy Due to PPARG vs LMNA Pathogenic Variants.

The Journal Of Clinical Endocrinology And Metabolism

Sekizkardes, Hilal H; Cochran, Elaine E; Malandrino, Noemi N; Garg, Abhimanyu A; Brown, Rebecca J RJ

Publication Date: 2019-08-01

Variant appearance in text: rs121909246

PubMed Link: 31194872

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: PPARG: R166W; rs121909246

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

PPARγ population shift produces disease-related changes in molecular networks associated with metabolic syndrome.

Cell Death & Disease

Jurkowski, W W; Roomp, K K; Crespo, I I; Schneider, J G JG; Del Sol, A A

Publication Date: 2011-08-11

Variant appearance in text: rs121909246

PubMed Link: 21833030

Variant Present in the following documents:

• Main text
• cddis201174a.pdf

View BVdb publication page

---