| Evidence | Deletion in Kidney Cystic Disease
- Reiterova J, Stekrova J, Peters DJ, Kapras J, Kohoutova M, Merta M, Zidovska J, Reiterova J, Stekrova J, Peters DJ, Kapras J, Kohoutova M, Merta M, Zidovska J, Reiterova J, Stekrova J, Peters DJ, Kapras J, Kohoutova M, Merta M, Zidovska J Four novel mutations of the PKD2 gene in Czech families with autosomaldominant polycystic kidney disease. Hum Mutat 2002 May;19(5):573.
Mutation in Kidney Cystic Disease
- Reiterova J, Stekrova J, Peters DJ, Kapras J, Kohoutova M, Merta M, Zidovska J, Reiterova J, Stekrova J, Peters DJ, Kapras J, Kohoutova M, Merta M, Zidovska J, Reiterova J, Stekrova J, Peters DJ, Kapras J, Kohoutova M, Merta M, Zidovska J Four novel mutations of the PKD2 gene in Czech families with autosomaldominant polycystic kidney disease. Hum Mutat 2002 May;19(5):573.
- Rossetti S, Chauveau D, Walker D, Saggar-Malik A, Winearls CG, Torres VE, Harris PC, Rossetti S, Chauveau D, Walker D, Saggar-Malik A, Winearls CG, Torres VE, Harris PC A complete mutation screen of the ADPKD genes by DHPLC. Kidney Int 2002 May;61(5):1588-99.
- Pei Y, Paterson AD, Wang KR, He N, Hefferton D, Watnick T, Germino GG, Parfrey P, Somlo S, St George-Hyslop P Bilineal disease and trans-heterozygotes in autosomal dominant polycystickidney disease. Am J Hum Genet 2001 Feb;68(2):355-63. Epub 2001 Jan 10.
- Torra R, Badenas C, Perez-Oller L, Luis J, Millan S, Nicolau C, Oppenheimer F, Mila M, Darnell A, Torra R, Badenas C, Perez-Oller L, Luis J, Millan S, Nicolau C, Oppenheimer F, Mila M, Darnell A, Torra R, Badenas C, Perez-Oller L, Luis J, Millan S, Nicolau C, Oppenheimer F, Mila M, Darnell A Increased prevalence of polycystic kidney disease type 2 among elderlypolycystic patients. Am J Kidney Dis 2000 Oct;36(4):728-34.
- Hateboer N, Veldhuisen B, Peters D, Breuning MH, San-Millan JL, Bogdanova N, Coto E, van Dijk MA, Afzal AR, Jeffery S, Saggar-Malik AK, Torra R, Dimitrakov D, Martinez I, de Castro SS, Krawczak M, Ravine D Location of mutations within the PKD2 gene influences clinical outcome. Kidney Int 2000 Apr;57(4):1444-51.
- Iglesias DM, Telleria D, Viribay M, Herrera M, Bernath VA, Kornblihtt AR, Martin RS, Millan JL A novel frameshift mutation (2436insT) produces an immediate stop codon inthe autosomal dominant polycystic kidney disease 2 (PKD2) gene. Nephrol Dial Transplant 2000 Apr;15(4):477-80.
- Koptides M, Mean R, Demetriou K, Pierides A, Deltas CC Genetic evidence for a trans-heterozygous model for cystogenesis inautosomal dominant polycystic kidney disease. Hum Mol Genet 2000 Feb 12;9(3):447-52.
- Reynolds DM, Hayashi T, Cai Y, Veldhuisen B, Watnick TJ, Lens XM, Mochizuki T, Qian F, Maeda Y, Li L, Fossdal R, Coto E, Wu G, Breuning MH, Germino GG, Peters DJ, Somlo S, Reynolds DM, Hayashi T, Cai Y, Veldhuisen B, Watnick TJ, Lens XM, Mochizuki T, Qian F, Maeda Y, Li L, Fossdal R, Coto E, Wu G, Breuning MH, Germino GG, Peters DJ, Somlo S, Reynolds DM, Hayashi T, Cai Y, Veldhuisen B, Watnick TJ, Lens XM, Mochizuki T, Qian F, Maeda Y, Li L, Fossdal R, Coto E, Wu G, Breuning MH, Germino GG, Peters DJ, Somlo S Aberrant splicing in the PKD2 gene as a cause of polycystic kidneydisease. J Am Soc Nephrol 1999 Nov;10(11):2342-51.
- Torra R, Badenas C, San Millan JL, Perez-Oller L, Estivill X, Darnell A, Torra R, Badenas C, San Millan JL, Perez-Oller L, Estivill X, Darnell A A loss-of-function model for cystogenesis in human autosomal dominantpolycystic kidney disease type 2. Am J Hum Genet 1999 Aug;65(2):345-52.
- Torra R, Viribay M, Telleria D, Badenas C, Watson M, Harris P, Darnell A, San Millan JL, Torra R, Viribay M, Telleria D, Badenas C, Watson M, Harris P, Darnell A, San Millan JL, Torra R, Viribay M, Telleria D, Badenas C, Watson M, Harris P, Darnell A, San Millan JL Seven novel mutations of the PKD2 gene in families with autosomal dominantpolycystic kidney disease. Kidney Int 1999 Jul;56(1):28-33.
- Pei Y, Watnick T, He N, Wang K, Liang Y, Parfrey P, Germino G, St George-Hyslop P, Pei Y, Watnick T, He N, Wang K, Liang Y, Parfrey P, Germino G, St George-Hyslop P Somatic PKD2 mutations in individual kidney and liver cysts support a"two-hit" model of cystogenesis in type 2 autosomal dominant polycystickidney disease. J Am Soc Nephrol 1999 Jul;10(7):1524-9.
- Koptides M, Hadjimichael C, Koupepidou P, Pierides A, Constantinou Deltas C, Koptides M, Hadjimichael C, Koupepidou P, Pierides A, Constantinou Deltas C Germinal and somatic mutations in the PKD2 gene of renal cysts inautosomal dominant polycystic kidney disease. Hum Mol Genet 1999 Mar;8(3):509-13.
- Pei Y, Wang K, Kasenda M, Paterson AD, Liang Y, Huang E, Lian J, Rogovea E, Somlo S, St George-Hyslop P A novel frameshift mutation induced by an adenosine insertion in thepolycystic kidney disease 2 (PKD2) gene. Kidney Int 1998 May;53(5):1127-32.
- Viribay M, Hayashi T, Telleria D, Mochizuki T, Reynolds DM, Alonso R, Lens XM, Moreno F, Harris PC, Somlo S, San Millan JL Novel stop and frameshifting mutations in the autosomal dominantpolycystic kidney disease 2 (PKD2) gene. Hum Genet 1997 Dec;101(2):229-34.
- Xenophontos S, Constantinides R, Hayashi T, Mochizuki T, Somlo S, Pierides A, Deltas CC A translation frameshift mutation induced by a cytosine insertion in thepolycystic kidney disease 2 gene (PDK2). Hum Mol Genet 1997 Jun;6(6):949-52.
Other key publications related to this gene
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