Publications:

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Probenecid slows disease progression in a murine model of autosomal dominant polycystic kidney disease.

Physiological Reports

Arkhipov, Sergey N SN; Potter, D'Anna L DL; Sultanova, Regina F RF; Ilatovskaya, Daria V DV; Harris, Peter C PC; Pavlov, Tengis S TS

Publication Date: 2023-04

Variant appearance in text: PKD1: Arg3277Cys

PubMed Link: 37024297

Variant Present in the following documents:

• Main text
• PHY2-11-e15652.pdf

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Review of the Use of Animal Models of Human Polycystic Kidney Disease for the Evaluation of Experimental Therapeutic Modalities.

Journal Of Clinical Medicine

Nagao, Shizuko S; Yamaguchi, Tamio T

Publication Date: 2023-01-14

Variant appearance in text: PKD1: R3277C

PubMed Link: 36675597

Variant Present in the following documents:

• Main text
• jcm-12-00668.pdf

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Glucose absorption drives cystogenesis in a human organoid-on-chip model of polycystic kidney disease.

Nature Communications

Li, Sienna R SR; Gulieva, Ramila E RE; Helms, Louisa L; Cruz, Nelly M NM; Vincent, Thomas T; Fu, Hongxia H; Himmelfarb, Jonathan J; Freedman, Benjamin S BS

Publication Date: 2022-12-23

Variant appearance in text: PKD1: R3277C

PubMed Link: 36564419

Variant Present in the following documents:

• Main text
• 41467_2022_Article_35537.pdf

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Caspase-1 and the inflammasome promote polycystic kidney disease progression.

Frontiers In Molecular Biosciences

Swenson-Fields, Katherine I KI; Ward, Christopher J CJ; Lopez, Micaila E ME; Fross, Shaneann S; Heimes Dillon, Anna L AL; Meisenheimer, James D JD; Rabbani, Adib J AJ; Wedlock, Emily E; Basu, Malay K MK; Jansson, Kyle P KP; Rowe, Peter S PS; Stubbs, Jason R JR; Wallace, Darren P DP; Vitek, Michael P MP; Fields, Timothy A TA

Publication Date: 2022

Variant appearance in text: PKD1: R3277C

PubMed Link: 36523654

Variant Present in the following documents:

• Main text
• fmolb-09-971219.pdf

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The tryptophan metabolizing enzyme indoleamine 2,3-dioxygenase 1 regulates polycystic kidney disease progression.

Jci Insight

Nguyen, Dustin T DT; Kleczko, Emily K EK; Dwivedi, Nidhi N; Monaghan, Marie-Louise T MT; Gitomer, Berenice Y BY; Chonchol, Michel B MB; Clambey, Eric T ET; Nemenoff, Raphael A RA; Klawitter, Jelena J; Hopp, Katharina K

Publication Date: 2022-11-24

Variant appearance in text: PKD1: R3277C

PubMed Link: 36422996

Variant Present in the following documents:

• jciinsight-8-154773.pdf

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Kidney Cyst Lining Epithelial Cells Are Resistant to Low-Dose Cisplatin-Induced DNA Damage in a Preclinical Model of Autosomal Dominant Polycystic Kidney Disease.

International Journal Of Molecular Sciences

Saravanabavan, Sayanthooran S; Rangan, Gopala K GK

Publication Date: 2022-10-19

Variant appearance in text: PKD1: R3277C

PubMed Link: 36293397

Variant Present in the following documents:

• Main text
• ijms-23-12547.pdf

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Shared pathobiology identifies AMPK as a therapeutic target for obesity and autosomal dominant polycystic kidney disease.

Frontiers In Molecular Biosciences

Iliuta, Ioan-Andrei IA; Song, Xuewen X; Pickel, Lauren L; Haghighi, Amirreza A; Retnakaran, Ravi R; Scholey, James J; Sung, Hoon-Ki HK; Steinberg, Gregory R GR; Pei, York Y

Publication Date: 2022

Variant appearance in text: PKD1: R3277C

PubMed Link: 36106024

Variant Present in the following documents:

• Main text
• fmolb-09-962933.pdf

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Drugs in Clinical Development to Treat Autosomal Dominant Polycystic Kidney Disease.

Drugs

Bais, Thomas T; Gansevoort, Ron T RT; Meijer, Esther E

Publication Date: 2022-07

Variant appearance in text: PKD1: R3277C

PubMed Link: 35852784

Variant Present in the following documents:

• 40265_2022_Article_1745.pdf

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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: 9829C>T; Arg3277Cys

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

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c-JUN n-Terminal Kinase (JNK) Signaling in Autosomal Dominant Polycystic Kidney Disease.

Journal Of Cellular Signaling

Smith, Abigail O AO; Jonassen, Julie A JA; Preval, Kenley M KM; Davis, Roger J RJ; Pazour, Gregory J GJ

Publication Date: 2022

Variant appearance in text: PKD1: R3277C

PubMed Link: 35253003

Variant Present in the following documents:

• Main text
• nihms-1780319.pdf

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Functional megalin is expressed in renal cysts in a mouse model of adult polycystic kidney disease.

Clinical Kidney Journal

Nielsen, Marlene L ML; Mundt, Mia C MC; Lildballe, Dorte L DL; Rasmussen, Maria M; Sunde, Lone L; Torres, Vicente E VE; Harris, Peter C PC; Birn, Henrik H

Publication Date: 2021-11

Variant appearance in text: PKD1: R3277C

PubMed Link: 34754438

Variant Present in the following documents:

• Main text
• sfab088.pdf

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Is There a Functional Role of Mitochondrial Dysfunction in the Pathogenesis of ARPKD?

Frontiers In Medicine

Liebau, Max Christoph MC

Publication Date: 2021

Variant appearance in text: PKD1: Arg3277Cys

PubMed Link: 34676227

Variant Present in the following documents:

• Main text
• fmed-08-739534.pdf

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Metabolic derangement in polycystic kidney disease mouse models is ameliorated by mitochondrial-targeted antioxidants.

Communications Biology

Daneshgar, Nastaran N; Baguley, Andrew W AW; Liang, Peir-In PI; Wu, Fei F; Chu, Yi Y; Kinter, Michael T MT; Benavides, Gloria A GA; Johnson, Michelle S MS; Darley-Usmar, Victor V; Zhang, Jianhua J; Chan, Kung-Sik KS; Dai, Dao-Fu DF

Publication Date: 2021-10-20

Variant appearance in text: PKD1: R3277C

PubMed Link: 34671066

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 9829C>T; Arg3277Cys

PubMed Link: 34631280

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Pre-clinical evaluation of dual targeting of the GPCRs CaSR and V2R as therapeutic strategy for autosomal dominant polycystic kidney disease.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Di Mise, Annarita A; Wang, Xiaofang X; Ye, Hong H; Pellegrini, Lorenzo L; Torres, Vicente E VE; Valenti, Giovanna G

Publication Date: 2021-10

Variant appearance in text: PKD1: R3277C

PubMed Link: 34486176

Variant Present in the following documents:

• Main text
• FSB2-35-0.pdf

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Enhanced MCP-1 Release in Early Autosomal Dominant Polycystic Kidney Disease.

Kidney International Reports

Janssens, Peter P; Decuypere, Jean-Paul JP; De Rechter, Stéphanie S; Breysem, Luc L; Van Giel, Dorien D; Billen, Jaak J; Hindryckx, An A; De Catte, Luc L; Baldewijns, Marcella M; Claes, Kathleen B M KBM; Wissing, Karl M KM; Devriendt, Koen K; Bammens, Bert B; Meyts, Isabelle I; Torres, Vicente E VE; Vennekens, Rudi R; Mekahli, Djalila D

Publication Date: 2021-06

Variant appearance in text: PKD1: 9829C>T; Arg3277Cys

PubMed Link: 34169210

Variant Present in the following documents:

• Main text
• main.pdf

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Long-term dietary nitrate supplementation does not reduce renal cyst growth in experimental autosomal dominant polycystic kidney disease.

Plos One

Zhang, Jennifer Q J JQJ; Saravanabavan, Sayanthooran S; Cheng, Kai Man KM; Raghubanshi, Aarya A; Chandra, Ashley N AN; Munt, Alexandra A; Rayner, Benjamin B; Zhang, Yunjia Y; Chau, Katrina K; Wong, Annette T Y ATY; Rangan, Gopala K GK

Publication Date: 2021

Variant appearance in text: PKD1: R3277C

PubMed Link: 33886581

Variant Present in the following documents:

• Main text

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Non-Coding RNAs in Hereditary Kidney Disorders.

International Journal Of Molecular Sciences

Zhou, Julie Xia JX; Li, Xiaogang X

Publication Date: 2021-03-16

Variant appearance in text: PKD1: R3277C

PubMed Link: 33809516

Variant Present in the following documents:

• Main text

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Effect of Reducing Ataxia-Telangiectasia Mutated (ATM) in Experimental Autosomal Dominant Polycystic Kidney Disease.

Cells

Zhang, Jennifer Q J JQJ; Saravanabavan, Sayanthooran S; Rangan, Gopala K GK

Publication Date: 2021-03-03

Variant appearance in text: PKD1: R3277C

PubMed Link: 33802342

Variant Present in the following documents:

• Main text
• cells-10-00532.pdf

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MicroRNAs and Polycystic Kidney Disease.

Kidney Medicine

Li, Dantong D; Sun, Liangzhong L

Publication Date: 2020

Variant appearance in text: PKD1: R3277C

PubMed Link: 33319200

Variant Present in the following documents:

• Main text
• main.pdf

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Clinical impact of genomic testing in patients with suspected monogenic kidney disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Jayasinghe, Kushani K; Stark, Zornitza Z; Kerr, Peter G PG; Gaff, Clara C; Martyn, Melissa M; Whitlam, John J; Creighton, Belinda B; Donaldson, Elizabeth E; Hunter, Matthew M; Jarmolowicz, Anna A; Johnstone, Lilian L; Krzesinski, Emma E; Lunke, Sebastian S; Lynch, Elly E; Nicholls, Kathleen K; Patel, Chirag C; Prawer, Yael Y; Ryan, Jessica J; See, Emily J EJ; Talbot, Andrew A; Trainer, Alison A; Tytherleigh, Rigan R; Valente, Giulia G; Wallis, Mathew M; Wardrop, Louise L; West, Kirsty H KH; White, Susan M SM; Wilkins, Ella E; Mallett, Andrew J AJ; Quinlan, Catherine C

Publication Date: 2021-01

Variant appearance in text: PKD1: 9829C>T; Arg3277Cys

PubMed Link: 32939031

Variant Present in the following documents:

• 41436_2020_963_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease.

Kidney International Reports

VanNoy, Grace E GE; Wojcik, Monica H MH; Genetti, Casie A CA; Mullen, Thomas E TE; Agrawal, Pankaj B PB; Stein, Deborah R DR

Publication Date: 2020-08

Variant appearance in text: PKD1: R3277C

PubMed Link: 32775833

Variant Present in the following documents:

• Main text
• main.pdf

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An Overview of In Vivo and In Vitro Models for Autosomal Dominant Polycystic Kidney Disease: A Journey from 3D-Cysts to Mini-Pigs.

International Journal Of Molecular Sciences

Koslowski, Svenja S; Latapy, Camille C; Auvray, Pierrïck P; Blondel, Marc M; Meijer, Laurent L

Publication Date: 2020-06-25

Variant appearance in text: PKD1: R3277C

PubMed Link: 32630605

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.

Frontiers In Genetics

Mantovani, Vilma V; Bin, Sofia S; Graziano, Claudio C; Capelli, Irene I; Minardi, Raffaella R; Aiello, Valeria V; Ambrosini, Enrico E; Cristalli, Carlotta Pia CP; Mattiaccio, Alessandro A; Pariali, Milena M; De Fanti, Sara S; Faletra, Flavio F; Grosso, Enrico E; Cantone, Rachele R; Mancini, Elena E; Mencarelli, Francesca F; Pasini, Andrea A; Wischmeijer, Anita A; Sciascia, Nicola N; Seri, Marco M; La Manna, Gaetano G

Publication Date: 2020

Variant appearance in text: PKD1: Arg3277Cys

PubMed Link: 32457805

Variant Present in the following documents:

• Main text
• fgene-11-00464.pdf

View BVdb publication page

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Role of chemokines, innate and adaptive immunity.

Cellular Signalling

Zimmerman, Kurt A KA; Hopp, Katharina K; Mrug, Michal M

Publication Date: 2020-09

Variant appearance in text: PKD1: R3277C

PubMed Link: 32325183

Variant Present in the following documents:

• Main text

View BVdb publication page

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Beyond a Passive Conduit: Implications of Lymphatic Biology for Kidney Diseases.

Journal Of The American Society Of Nephrology : Jasn

Jafree, Daniyal J DJ; Long, David A DA

Publication Date: 2020-06

Variant appearance in text: PKD1: R3277C

PubMed Link: 32295825

Variant Present in the following documents:

• Main text

View BVdb publication page

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Regulation of polycystin expression, maturation and trafficking.

Cellular Signalling

Hu, Jinghua J; Harris, Peter C PC

Publication Date: 2020-08

Variant appearance in text: PKD1: Arg3277Cys

PubMed Link: 32275942

Variant Present in the following documents:

• Main text

View BVdb publication page

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Metalloproteinase PAPP-A regulation of IGF-1 contributes to polycystic kidney disease pathogenesis.

Jci Insight

Kashyap, Sonu S; Hein, Kyaw Zaw KZ; Chini, Claudia Cs CC; Lika, Jorgo J; Warner, Gina M GM; Bale, Laurie K LK; Torres, Vicente E VE; Harris, Peter C PC; Oxvig, Claus C; Conover, Cheryl A CA; Chini, Eduardo N EN

Publication Date: 2020-02-27

Variant appearance in text: PKD1: R3277C

PubMed Link: 31990681

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations.

Journal Of Clinical Medicine

Kataoka, Hiroshi H; Fukuoka, Hinata H; Makabe, Shiho S; Yoshida, Rie R; Teraoka, Atsuko A; Ushio, Yusuke Y; Akihisa, Taro T; Manabe, Shun S; Sato, Masayo M; Mitobe, Michihiro M; Tsuchiya, Ken K; Nitta, Kosaku K; Mochizuki, Toshio T

Publication Date: 2020-01-05

Variant appearance in text: PKD1: R3277C

PubMed Link: 31948117

Variant Present in the following documents:

• Main text
• jcm-09-00146.pdf

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The consequences of increased 4E-BP1 in polycystic kidney disease.

Human Molecular Genetics

Holditch, Sara J SJ; Brown, Carolyn N CN; Atwood, Daniel J DJ; Pokhrel, Deepak D; Brown, Sara E SE; Lombardi, Andrew M AM; Nguyen, Khoa N KN; Hill, Ryan C RC; Lanaspa, Miguel M; Hopp, Katharina K; Weiser-Evans, Mary C M MCM; Edelstein, Charles L CL

Publication Date: 2019-12-15

Variant appearance in text: PKD1: R3277C

PubMed Link: 31646342

Variant Present in the following documents:

• Main text

View BVdb publication page

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Knockout of P2rx7 purinergic receptor attenuates cyst growth in a rat model of ARPKD.

American Journal Of Physiology. Renal Physiology

Arkhipov, Sergey N SN; Potter, D'Anna L DL; Geurts, Aron M AM; Pavlov, Tengis S TS

Publication Date: 2019-12-01

Variant appearance in text: PKD1: R3277C

PubMed Link: 31630543

Variant Present in the following documents:

• Main text

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: PKD1: 9829C>T; Arg3277Cys; rs148812376

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Synergistic Genetic Interactions between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models.

Journal Of The American Society Of Nephrology : Jasn

Olson, Rory J RJ; Hopp, Katharina K; Wells, Harrison H; Smith, Jessica M JM; Furtado, Jessica J; Constans, Megan M MM; Escobar, Diana L DL; Geurts, Aron M AM; Torres, Vicente E VE; Harris, Peter C PC

Publication Date: 2019-11

Variant appearance in text: PKD1: Arg3277Cys

PubMed Link: 31427367

Variant Present in the following documents:

• Main text

View BVdb publication page

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Anti-microRNA screen uncovers miR-17 family within miR-17~92 cluster as the primary driver of kidney cyst growth.

Scientific Reports

Yheskel, Matanel M; Lakhia, Ronak R; Cobo-Stark, Patricia P; Flaten, Andrea A; Patel, Vishal V

Publication Date: 2019-02-13

Variant appearance in text: PKD1: R3277C

PubMed Link: 30760828

Variant Present in the following documents:

• Main text
• 41598_2019_Article_38566.pdf

View BVdb publication page

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Autosomal Dominant Polycystic Kidney Disease: Presence of Hypomorphic Alleles in PKD1 Gene.

Indian Journal Of Nephrology

Pandita, S S; Khullar, D D; Saxena, R R; Verma, I C IC

Publication Date: 2018

Variant appearance in text: PKD1: Arg3277Cys

PubMed Link: 30647506

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R3277C

PubMed Link: 30523303

Variant Present in the following documents:

• Main text

View BVdb publication page

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CD8+ T cells modulate autosomal dominant polycystic kidney disease progression.

Kidney International

Kleczko, Emily K EK; Marsh, Kenneth H KH; Tyler, Logan C LC; Furgeson, Seth B SB; Bullock, Bonnie L BL; Altmann, Christopher J CJ; Miyazaki, Makoto M; Gitomer, Berenice Y BY; Harris, Peter C PC; Weiser-Evans, Mary C M MCM; Chonchol, Michel B MB; Clambey, Eric T ET; Nemenoff, Raphael A RA; Hopp, Katharina K

Publication Date: 2018-12

Variant appearance in text: PKD1: R3277C

PubMed Link: 30249452

Variant Present in the following documents:

• Main text
• nihms-997941.pdf

View BVdb publication page

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Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing.

Journal Of The American Society Of Nephrology : Jasn

Lanktree, Matthew B MB; Haghighi, Amirreza A; Guiard, Elsa E; Iliuta, Ioan-Andrei IA; Song, Xuewen X; Harris, Peter C PC; Paterson, Andrew D AD; Pei, York Y

Publication Date: 2018-10

Variant appearance in text: PKD1: R3277C

PubMed Link: 30135240

Variant Present in the following documents:

• Main text

View BVdb publication page

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Aberrant Regulation of Notch3 Signaling Pathway in Polycystic Kidney Disease.

Scientific Reports

Idowu, Jessica J; Home, Trisha T; Patel, Nisha N; Magenheimer, Brenda B; Tran, Pamela V PV; Maser, Robin L RL; Ward, Christopher J CJ; Calvet, James P JP; Wallace, Darren P DP; Sharma, Madhulika M

Publication Date: 2018-02-20

Variant appearance in text: PKD1: R3277C

PubMed Link: 29463793

Variant Present in the following documents:

• Main text
• 41598_2018_Article_21132.pdf

View BVdb publication page

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Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.

Journal Of The American Society Of Nephrology : Jasn

Cornec-Le Gall, Emilie E; Torres, Vicente E VE; Harris, Peter C PC

Publication Date: 2018-01

Variant appearance in text: PKD1: 9829C>T; Arg3277Cys

PubMed Link: 29038287

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics.

Clinical Kidney Journal

Ars, Elisabet E; Torra, Roser R

Publication Date: 2017-10

Variant appearance in text: PKD1: Arg3277Cys

PubMed Link: 28980669

Variant Present in the following documents:

• Main text
• sfx051.pdf

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PPARα agonist fenofibrate enhances fatty acid β-oxidation and attenuates polycystic kidney and liver disease in mice.

American Journal Of Physiology. Renal Physiology

Lakhia, Ronak R; Yheskel, Matanel M; Flaten, Andrea A; Quittner-Strom, Ezekiel B EB; Holland, William L WL; Patel, Vishal V

Publication Date: 2018-01-01

Variant appearance in text: PKD1: R3277C

PubMed Link: 28903946

Variant Present in the following documents:

• Main text

View BVdb publication page

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microRNA-17 family promotes polycystic kidney disease progression through modulation of mitochondrial metabolism.

Nature Communications

Hajarnis, Sachin S; Lakhia, Ronak R; Yheskel, Matanel M; Williams, Darren D; Sorourian, Mehran M; Liu, Xueqing X; Aboudehen, Karam K; Zhang, Shanrong S; Kersjes, Kara K; Galasso, Ryan R; Li, Jian J; Kaimal, Vivek V; Lockton, Steven S; Davis, Scott S; Flaten, Andrea A; Johnson, Joshua A JA; Holland, William L WL; Kusminski, Christine M CM; Scherer, Philipp E PE; Harris, Peter C PC; Trudel, Marie M; Wallace, Darren P DP; Igarashi, Peter P; Lee, Edmund C EC; Androsavich, John R JR; Patel, Vishal V

Publication Date: 2017-02-16

Variant appearance in text: PKD1: R3277C

PubMed Link: 28205547

Variant Present in the following documents:

• Main text
• ncomms14395.pdf

View BVdb publication page

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Tolvaptan treatment for severe neonatal autosomal-dominant polycystic kidney disease.

Pediatric Nephrology (Berlin, Germany)

Gilbert, Rodney D RD; Evans, Hazel H; Olalekan, Kazeem K; Nagra, Arvind A; Haq, Mushfequr R MR; Griffiths, Mark M

Publication Date: 2017-05

Variant appearance in text: PKD1: 9829C>T

PubMed Link: 28194574

Variant Present in the following documents:

• Main text

View BVdb publication page

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