Publications:

Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: HMCN1: 6917G>A; Arg2306Gln; rs137853916

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

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: HMCN1: R2306Q

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.

Oncotarget

Huang, Hui H; Wang, Ying Y; Chen, Huishuang H; Chen, Yanhua Y; Wu, Jing J; Chiang, Pei-Wen PW; Fan, Ning N; Su, Yan Y; Deng, Jianlian J; Chen, Dongna D; Li, Yang Y; Zhang, Xinxin X; Zhang, Mengxin M; Liang, Shengran S; Banerjee, Santasree S; Qi, Ming M; Liu, Xuyang X

Publication Date: 2017-05-23

Variant appearance in text: HMCN1: 6917G>A; Arg2306Gln

PubMed Link: 28456785

Variant Present in the following documents:

• oncotarget-08-35176-s001.pdf

View BVdb publication page

Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports

Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK

Publication Date: 2014-11-14

Variant appearance in text: HMCN1: R2306Q

PubMed Link: 25394353

Variant Present in the following documents:

• srep07063-s2.xls, sheet 2

View BVdb publication page