Publications:

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Gαi-mediated TRPC4 activation by polycystin-1 contributes to endothelial function via STAT1 activation.

Scientific Reports

Kwak, Misun M; Hong, Chansik C; Myeong, Jongyun J; Park, Eunice Yon June EYJ; Jeon, Ju-Hong JH; So, Insuk I

Publication Date: 2018-02-22

Variant appearance in text: PKD1: L2993P

PubMed Link: 29472562

Variant Present in the following documents:

• Main text
• 41598_2018_Article_21873.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: PKD1: L2993P

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PKD1: L2993P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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A novel evolutionarily conserved domain of cell-adhesion GPCRs mediates autoproteolysis.

The Embo Journal

Araç, Demet D; Boucard, Antony A AA; Bolliger, Marc F MF; Nguyen, Jenna J; Soltis, S Michael SM; Südhof, Thomas C TC; Brunger, Axel T AT

Publication Date: 2012-03-21

Variant appearance in text: PKD1: L2993P

PubMed Link: 22333914

Variant Present in the following documents:

• emboj201226s1.pdf

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Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.

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

Qian, Feng F; Boletta, Alessandra A; Bhunia, Anil K AK; Xu, Hangxue H; Liu, Lijuan L; Ahrabi, Ali K AK; Watnick, Terry J TJ; Zhou, Fang F; Germino, Gregory G GG

Publication Date: 2002-12-24

Variant appearance in text: PKD1: L2993P

PubMed Link: 12482949

Variant Present in the following documents:

• Main text

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Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.

American Journal Of Human Genetics

Rossetti, S S; Strmecki, L L; Gamble, V V; Burton, S S; Sneddon, V V; Peral, B B; Roy, S S; Bakkaloglu, A A; Komel, R R; Winearls, C G CG; Harris, P C PC

Publication Date: 2001-01

Variant appearance in text: PKD1: L2993P

PubMed Link: 11115377

Variant Present in the following documents:

• Main text

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