Publications:

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: PKD1: 1583A>G; Tyr528Cys

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

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Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.

Molecular Therapy. Nucleic Acids

Villiger, Lukas L; Schmidheini, Lukas L; Mathis, Nicolas N; Rothgangl, Tanja T; Marquart, Kim K; Schwank, Gerald G

Publication Date: 2021-12-03

Variant appearance in text: PKD1: 1583A>G; Tyr528Cys

PubMed Link: 34631280

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Polycystic Kidney Disease Caused by Bilineal Inheritance of Truncating PKD1 as Well as PKD2 Mutations.

Kidney International Reports

Losekoot, Monique M; Meijer, Esther E; Hagen, E Christiaan EC; Belostotsky, Vladimir V; de Borst, Martin M; Tholens, Aart A; Phylipsen, Marion M; Pei, York Y; Gansevoort, Ron T RT; Peters, Dorien J M DJM

Publication Date: 2020-10

Variant appearance in text: PKD1: Tyr528Cys

PubMed Link: 33102977

Variant Present in the following documents:

• Main text
• main.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: PKD1: 1583A>G; Tyr528Cys

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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Apoptosis and autophagy in polycystic kidney disease (PKD).

Cellular Signalling

Nowak, Kristen L KL; Edelstein, Charles L CL

Publication Date: 2020-04

Variant appearance in text: PKD1: Y528C

PubMed Link: 31881325

Variant Present in the following documents:

• Main text

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: PKD1: 1583A>G; Y528C

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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Polycystic kidney disease.

Nature Reviews. Disease Primers

Bergmann, Carsten C; Guay-Woodford, Lisa M LM; Harris, Peter C PC; Horie, Shigeo S; Peters, Dorien J M DJM; Torres, Vicente E VE

Publication Date: 2018-12-06

Variant appearance in text: PKD1: Y528C

PubMed Link: 30523303

Variant Present in the following documents:

• Main text

View BVdb publication page

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Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.

Bmc Nephrology

Elisakova, Veronika V; Merta, Miroslav M; Reiterova, Jana J; Baxova, Alica A; Kotlas, Jaroslav J; Hirschfeldova, Katerina K; Obeidova, Lena L; Tesar, Vladimir V; Stekrova, Jitka J

Publication Date: 2018-07-04

Variant appearance in text: PKD1: Tyr528Cys

PubMed Link: 29973168

Variant Present in the following documents:

• Main text
• 12882_2018_Article_978.pdf

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A polycystin-centric view of cyst formation and disease: the polycystins revisited.

Kidney International

Ong, Albert C M AC; Harris, Peter C PC

Publication Date: 2015-10

Variant appearance in text: PKD1: Y528C

PubMed Link: 26200945

Variant Present in the following documents:

• Main text
• emss-63858.pdf

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Predictors of autosomal dominant polycystic kidney disease progression.

Journal Of The American Society Of Nephrology : Jasn

Schrier, Robert W RW; Brosnahan, Godela G; Cadnapaphornchai, Melissa A MA; Chonchol, Michel M; Friend, Keith K; Gitomer, Berenice B; Rossetti, Sandro S

Publication Date: 2014-11

Variant appearance in text: PKD1: Y528C

PubMed Link: 24925719

Variant Present in the following documents:

• Main text

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A missense mutation in PKD1 attenuates the severity of renal disease.

Kidney International

Pei, York Y; Lan, Zheng Z; Wang, Kairong K; Garcia-Gonzalez, Miguel M; He, Ning N; Dicks, Elizabeth E; Parfrey, Patrick P; Germino, Gregory G; Watnick, Terry T

Publication Date: 2012-02

Variant appearance in text: PKD1: 1583A>G; Y528C

PubMed Link: 22031115

Variant Present in the following documents:

• Main text

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Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Irazabal, Maria V MV; Huston, John J; Kubly, Vickie V; Rossetti, Sandro S; Sundsbak, Jamie L JL; Hogan, Marie C MC; Harris, Peter C PC; Brown, Robert D RD; Torres, Vicente E VE

Publication Date: 2011-06

Variant appearance in text: PKD1: Y528C

PubMed Link: 21551026

Variant Present in the following documents:

• Main text

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