Publications:

System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.

Scientific Reports

Jin, Meiling M; Xie, Yuansheng Y; Chen, Zhiqiang Z; Liao, Yujie Y; Li, Zuoxiang Z; Hu, Panpan P; Qi, Yan Y; Yin, Zhiwei Z; Li, Qinggang Q; Fu, Ping P; Chen, Xiangmei X

Publication Date: 2016-10-26

Variant appearance in text: PKD1: 8558T>C; F2853S

PubMed Link: 27782177

Variant Present in the following documents:

• srep35945-s1.pdf

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Altered trafficking and stability of polycystins underlie polycystic kidney disease.

The Journal Of Clinical Investigation

Cai, Yiqiang Y; Fedeles, Sorin V SV; Dong, Ke K; Anyatonwu, Georgia G; Onoe, Tamehito T; Mitobe, Michihiro M; Gao, Jian-Dong JD; Okuhara, Dayne D; Tian, Xin X; Gallagher, Anna-Rachel AR; Tang, Zhangui Z; Xie, Xiaoli X; Lalioti, Maria D MD; Lee, Ann-Hwee AH; Ehrlich, Barbara E BE; Somlo, Stefan S

Publication Date: 2014-12

Variant appearance in text: PKD1: F2853S

PubMed Link: 25365220

Variant Present in the following documents:

• Main text

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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: F2853S

PubMed Link: 22333914

Variant Present in the following documents:

• emboj201226s1.pdf

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Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.

Molecular Genetics And Metabolism

Garcia-Gonzalez, Miguel A MA; Jones, Jeffrey G JG; Allen, Susan K SK; Palatucci, Christopher M CM; Batish, Sat D SD; Seltzer, William K WK; Lan, Zheng Z; Allen, Erica E; Qian, Feng F; Lens, Xose M XM; Pei, York Y; Germino, Gregory G GG; Watnick, Terry J TJ

Publication Date: 2007

Variant appearance in text: PKD1: F2853S

PubMed Link: 17574468

Variant Present in the following documents:

• Main text

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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: F2853S

PubMed Link: 12482949

Variant Present in the following documents:

• Main text

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