Publications:

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Polygenic risk affects the penetrance of monogenic kidney disease.

Medrxiv : The Preprint Server For Health Sciences

Khan, Atlas A; Shang, Ning N; Nestor, Jordan G JG; Weng, Chunhua C; Hripcsak, George G; Harris, Peter C PC; Gharavi, Ali G AG; Kiryluk, Krzysztof K

Publication Date: 2023-05-10

Variant appearance in text: PKD1: E2771K

PubMed Link: 37214819

Variant Present in the following documents:

• media-1.xlsx, sheet 2
• media-1.xlsx, sheet 3

View BVdb publication page

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Exome-First Strategy in Adult Patients With CKD: A Cohort Study.

Kidney International Reports

Doreille, Alice A; Lombardi, Yannis Y; Dancer, Marine M; Lamri, Radoslava R; Testard, Quentin Q; Vanhoye, Xavier X; Lebre, Anne-Sophie AS; Garcia, Hugo H; Rafat, Cédric C; Ouali, Nacera N; Luque, Yosu Y; Izzedine, Hassan H; Esteve, Emmanuel E; Cez, Alexandre A; Petit-Hoang, Camille C; François, Hélène H; Marchal, Armance A; Letavernier, Emmanuel E; Frémeaux-Bacchi, Véronique V; Boffa, Jean-Jacques JJ; Rondeau, Eric E; Raymond, Laure L; Mesnard, Laurent L

Publication Date: 2023-03

Variant appearance in text: PKD1: 8311G>A; Glu2771Lys

PubMed Link: 36938085

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.

Kidney International Reports

Lindemann, Christoph Heinrich CH; Wenzel, Andrea A; Erger, Florian F; Middelmann, Lea L; Borde, Julika J; Hahnen, Eric E; Krauß, Denise D; Oehm, Simon S; Arjune, Sita S; Todorova, Polina P; Burgmaier, Kathrin K; Liebau, Max Christoph MC; Grundmann, Franziska F; Beck, Bodo B BB; Müller, Roman-Ulrich RU

Publication Date: 2023-03

Variant appearance in text: PKD1: 8311G>A; E2771K

PubMed Link: 36938073

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis.

Jhep Reports : Innovation In Hepatology

Sierks, Dana D; Schönauer, Ria R; Friedrich, Anja A; Hantmann, Elena E; de Fallois, Jonathan J; Linder, Nikolas N; Fischer, Janett J; Herber, Adam A; Bergmann, Carsten C; Berg, Thomas T; Halbritter, Jan J

Publication Date: 2022-11

Variant appearance in text: PKD1: 8311G>A; E2771K

PubMed Link: 36246085

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.

Human Reproduction (Oxford, England)

van Dijk, Wanwisa W; Derks, Kasper K; Drüsedau, Marion M; Meekels, Jeroen J; Koeck, Rebekka R; Essers, Rick R; Dreesen, Joseph J; Coonen, Edith E; de Die-Smulders, Christine C; Stevens, Servi J C SJC; Brunner, Han G HG; van den Wijngaard, Arthur A; Paulussen, Aimée D C ADC; Zamani Esteki, Masoud M

Publication Date: 2022-10-31

Variant appearance in text: PKD1: 8311G>A; Glu2771Lys

PubMed Link: 36149256

Variant Present in the following documents:

• deac208_supplementary_table_sii.xlsx, sheet 1

View BVdb publication page

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PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.

Npj Genomic Medicine

Yu, Chih-Chuan CC; Lee, An-Fu AF; Kohl, Stefen S; Lin, Ming-Yen MY; Cheng, Siao Muk SM; Hung, Chi-Chih CC; Chang, Jer-Ming JM; Chiu, Yi-Wen YW; Hwang, Shang-Jyh SJ; Otto, Edgar A EA; Hildebrandt, Friedhelm F; , ; Hwang, Daw-Yang DY

Publication Date: 2022-07-01

Variant appearance in text: PKD1: 8311G>A; Glu2771Lys

PubMed Link: 35778421

Variant Present in the following documents:

• Main text
• 41525_2022_Article_309.pdf

View BVdb publication page

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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: 8311G>A; Glu2771Lys

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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Analysis of mutations in six Chinese families with autosomal dominant polycystic kidney disease.

American Journal Of Translational Research

Wang, Hanlu H; Dai, Sen S; Zhang, Jianhui J; Li, Yi Y; Gan, Yumian Y; Lu, Tao T; Zhu, Yaobin Y; Wu, Jiabin J; Lin, Ning N; Tang, Faqiang F; Luo, Jiewei J

Publication Date: 2020

Variant appearance in text: PKD1: 8311G>A; Glu2771Lys

PubMed Link: 33437386

Variant Present in the following documents:

• Main text

View BVdb publication page

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Demographic and clinical characteristics of children with autosomal dominant polycystic kidney disease: a single center experience

Turkish Journal Of Medical Sciences

Kasap Demir, Belde B; Mutlubaş, Fatma F; Soyaltın, Eren E; Alparslan, Caner C; Arya, Merve M; Alaygut, Demet D; Arslansoyu Çamlar, Seçil S; Berdeli, Afig A; Yavaşcan, Önder Ö

Publication Date: 2021-04-30

Variant appearance in text: PKD1: 8311G>A; Glu2771Lys

PubMed Link: 33315352

Variant Present in the following documents:

• Main text
• turkjmedsci-51-772.pdf

View BVdb publication page

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Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.

Journal Of Nephrology

Vaisitti, Tiziana T; Sorbini, Monica M; Callegari, Martina M; Kalantari, Silvia S; Bracciamà, Valeria V; Arruga, Francesca F; Vanzino, Silvia Bruna SB; Rendine, Sabina S; Togliatto, Gabriele G; Giachino, Daniela D; Pelle, Alessandra A; Cocchi, Enrico E; Benvenuta, Chiara C; Baldovino, Simone S; Rollino, Cristiana C; Fenoglio, Roberta R; Sciascia, Savino S; Tamagnone, Michela M; Vitale, Corrado C; Calabrese, Giovanni G; Biancone, Luigi L; Bussolino, Stefania S; Savoldi, Silvana S; Borzumati, Maurizio M; Cantaluppi, Vincenzo V; Chiappero, Fabio F; Ungari, Silvana S; Peruzzi, Licia L; Roccatello, Dario D; Amoroso, Antonio A; Deaglio, Silvia S

Publication Date: 2021-10

Variant appearance in text: PKD1: 8311G>A; Glu2771Lys

PubMed Link: 33226606

Variant Present in the following documents:

• 40620_2020_Article_898.pdf

View BVdb publication page

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Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.

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

Thomas, Christie P CP; Freese, Margaret E ME; Ounda, Agnes A; Jetton, Jennifer G JG; Holida, Myrl M; Noureddine, Lama L; Smith, Richard J RJ

Publication Date: 2020-06

Variant appearance in text: PKD1: Glu2771Lys

PubMed Link: 32203225

Variant Present in the following documents:

• Main text
• 41436_2020_Article_772.pdf

View BVdb publication page

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Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.

Scientific Reports

Kim, Hyunsuk H; Park, Hayne Cho HC; Ryu, Hyunjin H; Kim, Hyunho H; Lee, Hyun-Seob HS; Heo, Jongho J; Lee, Chung C; Kim, Nayoung K D NKD; Park, Woong-Yang WY; Hwang, Young-Hwan YH; Lee, Kyu Beck KB; Oh, Kook-Hwan KH; Oh, Yun Kyu YK; Ahn, Curie C

Publication Date: 2019-11-18

Variant appearance in text: PKD1: 8311G>A; Glu2771Lys

PubMed Link: 31740684

Variant Present in the following documents:

• 41598_2019_52474_MOESM1_ESM.pdf

View BVdb publication page

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Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Mansilla, M Adela MA; Sompallae, Ramakrishna R RR; Nishimura, Carla J CJ; Kwitek, Anne E AE; Kimble, Mycah J MJ; Freese, Margaret E ME; Campbell, Colleen A CA; Smith, Richard J RJ; Thomas, Christie P CP

Publication Date: 2021-01-25

Variant appearance in text: PKD1: 8311G>A; Glu2771Lys

PubMed Link: 31738409

Variant Present in the following documents:

• Main text

View BVdb publication page

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: PKD1: 8311G>A; Glu2771Lys

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: PKD1: 8311G>A; Glu2771Lys

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.

Molecular Genetics & Genomic Medicine

Wang, Tao T; Li, Qinggang Q; Shang, Shunlai S; Geng, Guangrui G; Xie, Yuansheng Y; Cai, Guangyan G; Chen, Xiangmei X

Publication Date: 2019-06

Variant appearance in text: PKD1: 8311G>A; Glu2771Lys

PubMed Link: 31056860

Variant Present in the following documents:

• Main text
• MGG3-7-e720.pdf

View BVdb publication page

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Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.

Bmc Medical Genetics

He, Wen-Bin WB; Xiao, Wen-Juan WJ; Tan, Yue-Qiu YQ; Zhao, Xiao-Meng XM; Li, Wen W; Zhang, Qian-Jun QJ; Zhong, Chang-Gao CG; Li, Xiu-Rong XR; Hu, Liang L; Lu, Guang-Xiu GX; Lin, Ge G; Du, Juan J

Publication Date: 2018-10-17

Variant appearance in text: PKD1: 8311G>A; Glu2771Lys

PubMed Link: 30333007

Variant Present in the following documents:

• Main text
• 12881_2018_Article_693.pdf

View BVdb publication page

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Can we further enrich autosomal dominant polycystic kidney disease clinical trials for rapidly progressive patients? Application of the PROPKD score in the TEMPO trial.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Cornec-Le Gall, Emilie E; Blais, Jaime D JD; Irazabal, Maria V MV; Devuyst, Olivier O; Gansevoort, Ron T RT; Perrone, Ron D RD; Chapman, Arlene B AB; Czerwiec, Frank S FS; Ouyang, John J; Heyer, Christina M CM; Senum, Sarah R SR; Le Meur, Yannick Y; Torres, Vicente E VE; Harris, Peter C PC

Publication Date: 2018-04-01

Variant appearance in text: PKD1: 8311G>A; Glu2771Lys

PubMed Link: 28992127

Variant Present in the following documents:

• Main text
• gfx188.pdf

View BVdb publication page

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Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Scientific Reports

Carrera, Paola P; Calzavara, Silvia S; Magistroni, Riccardo R; den Dunnen, Johan T JT; Rigo, Francesca F; Stenirri, Stefania S; Testa, Francesca F; Messa, Piergiorgio P; Cerutti, Roberta R; Scolari, Francesco F; Izzi, Claudia C; Edefonti, Alberto A; Negrisolo, Susanna S; Benetti, Elisa E; Alibrandi, Maria Teresa Sciarrone MT; Manunta, Paolo P; Boletta, Alessandra A; Ferrari, Maurizio M

Publication Date: 2016-08-08

Variant appearance in text: PKD1: Glu2771Lys

PubMed Link: 27499327

Variant Present in the following documents:

• Main text
• srep30850.pdf

View BVdb publication page

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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: E2771K

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.

Scientific Reports

Liu, Bei B; Chen, Song-Chang SC; Yang, Yan-Mei YM; Yan, Kai K; Qian, Ye-Qing YQ; Zhang, Jun-Yu JY; Hu, Yu-Ting YT; Dong, Min-Yue MY; Jin, Fan F; Huang, He-Feng HF; Xu, Chen-Ming CM

Publication Date: 2015-12-03

Variant appearance in text: PKD1: Glu2771Lys

PubMed Link: 26632257

Variant Present in the following documents:

• Main text
• srep17468.pdf

View BVdb publication page

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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: E2771K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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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: E2771K

PubMed Link: 25365220

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

Molecular Genetics & Genomic Medicine

Trujillano, Daniel D; Bullich, Gemma G; Ossowski, Stephan S; Ballarín, José J; Torra, Roser R; Estivill, Xavier X; Ars, Elisabet E

Publication Date: 2014-09

Variant appearance in text: PKD1: 8311G>A; Glu2771Lys

PubMed Link: 25333066

Variant Present in the following documents:

• Main text
• mgg30002-0412.pdf

View BVdb publication page

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Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics

Obeidova, Lena L; Elisakova, Veronika V; Stekrova, Jitka J; Reiterova, Jana J; Merta, Miroslav M; Tesar, Vladimir V; Losan, Frantisek F; Kohoutova, Milada M

Publication Date: 2014-04-03

Variant appearance in text: PKD1: 8311G>A; Glu2771Lys

PubMed Link: 24694054

Variant Present in the following documents:

• Main text
• 1471-2350-15-41.pdf

View BVdb publication page

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Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.

Kidney International

Paul, Binu M BM; Consugar, Mark B MB; Ryan Lee, Moonnoh M; Sundsbak, Jamie L JL; Heyer, Christina M CM; Rossetti, Sandro S; Kubly, Vickie J VJ; Hopp, Katharina K; Torres, Vicente E VE; Coto, Eliecer E; Clementi, Maurizio M; Bogdanova, Nadja N; de Almeida, Edgar E; Bichet, Daniel G DG; Harris, Peter C PC

Publication Date: 2014-02

Variant appearance in text: PKD1: E2771K

PubMed Link: 23760289

Variant Present in the following documents:

• Main text
• nihms-481064.pdf

View BVdb publication page

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Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.

The Journal Of Clinical Investigation

Hopp, Katharina K; Ward, Christopher J CJ; Hommerding, Cynthia J CJ; Nasr, Samih H SH; Tuan, Han-Fang HF; Gainullin, Vladimir G VG; Rossetti, Sandro S; Torres, Vicente E VE; Harris, Peter C PC

Publication Date: 2012-11

Variant appearance in text: PKD1: E2771K

PubMed Link: 23064367

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Journal Of The American Society Of Nephrology : Jasn

Rossetti, Sandro S; Hopp, Katharina K; Sikkink, Robert A RA; Sundsbak, Jamie L JL; Lee, Yean Kit YK; Kubly, Vickie V; Eckloff, Bruce W BW; Ward, Christopher J CJ; Winearls, Christopher G CG; Torres, Vicente E VE; Harris, Peter C PC

Publication Date: 2012-05

Variant appearance in text: PKD1: 8311G>A

PubMed Link: 22383692

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: E2771K

PubMed Link: 22333914

Variant Present in the following documents:

• emboj201226s1.pdf
• emboj201226a.pdf

View BVdb publication page

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Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease.

Journal Of Pediatric Gastroenterology And Nutrition

O'Brien, Kevin K; Font-Montgomery, Esperanza E; Lukose, Linda L; Bryant, Joy J; Piwnica-Worms, Katie K; Edwards, Hailey H; Riney, Lauren L; Garcia, Angelica A; Daryanani, Kailash K; Choyke, Peter P; Mohan, Parvathi P; Heller, Theo T; Gahl, William A WA; Gunay-Aygun, Meral M

Publication Date: 2012-01

Variant appearance in text: PKD1: Glu2771Lys

PubMed Link: 21694639

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular diagnostics for autosomal dominant polycystic kidney disease.

Nature Reviews. Nephrology

Harris, Peter C PC; Rossetti, Sandro S

Publication Date: 2010-04

Variant appearance in text: PKD1: Glu2771Lys

PubMed Link: 20177400

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: E2771K

PubMed Link: 17574468

Variant Present in the following documents:

• Main text

View BVdb publication page

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PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics

Vouk, Katja K; Strmecki, Lana L; Stekrova, Jitka J; Reiterova, Jana J; Bidovec, Matjaz M; Hudler, Petra P; Kenig, Anton A; Jereb, Simona S; Zupanic-Pajnic, Irena I; Balazic, Joze J; Haarpaintner, Guido G; Leskovar, Bostjan B; Adamlje, Anton A; Skoflic, Antun A; Dovc, Reina R; Hojs, Radovan R; Komel, Radovan R

Publication Date: 2006-01-23

Variant appearance in text: PKD1: E2771K

PubMed Link: 16430766

Variant Present in the following documents:

• Main text
• 1471-2350-7-6.pdf

View BVdb publication page

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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: E2771K

PubMed Link: 12482949

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: E2771K

PubMed Link: 11115377

Variant Present in the following documents:

• Main text

View BVdb publication page

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