Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: NR0B2: R36C; rs751780945

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: NR0B2: R36C

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

A pleiotropic role for the orphan nuclear receptor small heterodimer partner in lipid homeostasis and metabolic pathways.

Journal Of Lipids

Garruti, Gabriella G; Wang, Helen H HH; Bonfrate, Leonilde L; de Bari, Ornella O; Wang, David Q-H DQ; Portincasa, Piero P

Publication Date: 2012

Variant appearance in text: NR0B2: R36C

PubMed Link: 22577560

Variant Present in the following documents:

• Main text
• JL2012-304292.pdf

View BVdb publication page

Role of nuclear receptor SHP in metabolism and cancer.

Biochimica Et Biophysica Acta

Zhang, Yuxia Y; Hagedorn, Curt H CH; Wang, Li L

Publication Date: 2011-08

Variant appearance in text: SHP: R36C

PubMed Link: 20970497

Variant Present in the following documents:

• Main text

View BVdb publication page

Novel polymorphisms of nuclear receptor SHP associated with functional and structural changes.

The Journal Of Biological Chemistry

Zhou, Taofeng T; Zhang, Yuxia Y; Macchiarulo, Antonio A; Yang, Zhihong Z; Cellanetti, Marco M; Coto, Eliecer E; Xu, Pingyi P; Pellicciari, Roberto R; Wang, Li L

Publication Date: 2010-08-06

Variant appearance in text: SHP: R36C

PubMed Link: 20516075

Variant Present in the following documents:

• Main text

View BVdb publication page