Publications:

The GPCR properties of polycystin-1- A new paradigm.

Frontiers In Molecular Biosciences

Maser, Robin L RL; Calvet, James P JP; Parnell, Stephen C SC

Publication Date: 2022

Variant appearance in text: PKD1: R3063C

PubMed Link: 36406261

Variant Present in the following documents:

• Main text
• fmolb-09-1035507.pdf

View BVdb publication page

Mechanism of tethered agonist-mediated signaling by polycystin-1.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Pawnikar, Shristi S; Magenheimer, Brenda S BS; Munoz, Ericka Nevarez EN; Maser, Robin L RL; Miao, Yinglong Y

Publication Date: 2022-05-10

Variant appearance in text: PKD1: R3063C

PubMed Link: 35522707

Variant Present in the following documents:

• pnas.202113786.pdf
• pnas.2113786119.sapp.pdf

View BVdb publication page

Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.

Human Mutation

Borràs, Daniel M DM; Vossen, Rolf H A M RHAM; Liem, Michael M; Buermans, Henk P J HPJ; Dauwerse, Hans H; van Heusden, Dave D; Gansevoort, Ron T RT; den Dunnen, Johan T JT; Janssen, Bart B; Peters, Dorien J M DJM; Losekoot, Monique M; Anvar, Seyed Yahya SY

Publication Date: 2017-07

Variant appearance in text: PKD1: 9187C>T; Arg3063Cys; rs145906459

PubMed Link: 28378423

Variant Present in the following documents:

• Main text
• HUMU-38-870.pdf
• HUMU-38-870-s001.pdf

View BVdb publication page

Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: PKD1: R3063C; rs145906459

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 5

View BVdb publication page