Polycystic kidney disease 1 is characterized by polycystic kidneys and autosomal dominant inheritance. It is caused by mutations of the PKD1 gene.
The estimated prevalence is between 1 one in 500 to 1 in 2000.
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| 1. |
None (2012) Bully renal cysts knock down urine-concentrating capacity in the early rounds.
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| 2. |
de Fallois J et al. (2021) Challenging Disease Ontology by Instances of Atypical and Genetics.
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Boichis H et al. (1973) Congenital hepatic fibrosis and nephronophthisis. A family study.
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Wu G et al. (2000) Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.
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McConnell RS et al. (2001) Autosomal dominant polycystic kidney disease unlinked to the PKD1 and PKD2 loci presenting as familial cerebral aneurysm.
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Stickler GB et al. (1975) Polycystic kidney disease: recognition of the "adult form" (autosomal dominant) in infancy.
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Nauli SM et al. (2003) Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells.
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Lin F et al. (2003) Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease.
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| 9. |
Rossetti S et al. (2003) Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.
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| 10. |
None (1992) Multilocus polycystic disease.
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| 11. |
Somlo S et al. (1992) Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers.
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| 12. |
Himmelbauer H et al. (1992) Human-mouse homologies in the region of the polycystic kidney disease gene (PKD1).
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DITLEFSEN EM et al. (1960) Intracranial aneurysms and polycystic kidneys.
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OSATHANONDH V et al. (1964) PATHOGENESIS OF POLYCYSTIC KIDNEYS. HISTORICAL SURVEY.
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None (2004) Polycystic kidney disease.
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Chapman AB et al. (1992) Intracranial aneurysms in autosomal dominant polycystic kidney disease.
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| 18. |
Germino GG et al. (1992) The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region.
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| 19. |
Coto E et al. (1992) Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1).
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| 20. |
Pound SE et al. (1992) Evidence for linkage disequilibrium between D16S94 and the adult onset polycystic kidney disease (PKD1) gene.
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Tao Y et al. (2005) Caspase inhibition reduces tubular apoptosis and proliferation and slows disease progression in polycystic kidney disease.
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Bear JC et al. (1992) Autosomal dominant polycystic kidney disease: new information for genetic counselling.
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| 23. |
Fischer E et al. (2006) Defective planar cell polarity in polycystic kidney disease.
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Ravine D et al. (1991) Treatable complications in undiagnosed cases of autosomal dominant polycystic kidney disease.
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| 25. |
Harris PC et al. (1991) Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker.
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| 26. |
Gillespie GA et al. (1991) CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5' end of a gene encoding a putative proton channel.
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| 27. |
Hannig VL et al. (1991) Presymptomatic testing for adult onset polycystic kidney disease in at-risk kidney transplant donors.
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| 28. |
Wilson PD et al. (1991) Reversed polarity of Na(+) -K(+) -ATPase: mislocation to apical plasma membranes in polycystic kidney disease epithelia.
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| 29. |
Song X et al. (2009) Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks.
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Davies F et al. (1991) Polycystic kidney disease re-evaluated: a population-based study.
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Breuning MH et al. (1990) Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1).
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| 32. |
Breuning MH et al. (1990) Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.
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Telenti A et al. (1990) Hepatic cyst infection in autosomal dominant polycystic kidney disease.
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Parfrey PS et al. (1990) The diagnosis and prognosis of autosomal dominant polycystic kidney disease.
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Chapman AB et al. (1990) The renin-angiotensin-aldosterone system and autosomal dominant polycystic kidney disease.
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| 36. |
Hodgkinson KA et al. (1990) Adult polycystic kidney disease: knowledge, experience, and attitudes to prenatal diagnosis.
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| 37. |
Germino GG et al. (1990) Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16.
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| 38. |
Harris PC et al. (1990) A long-range restriction map between the alpha-globin complex and a marker closely linked to the polycystic kidney disease 1 (PKD1) locus.
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| 39. |
Ryynanen M et al. (1987) Localisation of a mutation producing autosomal dominant polycystic kidney disease without renal failure.
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| 40. |
Lazarou LP et al. (1987) Adult polycystic kidney disease and linked RFLPs at the alpha globin locus: a genetic study in the South Wales population.
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| 41. |
Trent RJ et al. (1989) Alpha thalassaemia: a potential source of error in DNA linkage studies for adult polycystic kidney disease.
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| 42. |
Ceccherini I et al. (1989) Autosomal dominant polycystic kidney disease: prenatal diagnosis by DNA analysis and sonography at 14 weeks.
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| 43. |
Vinet MC et al. (1989) Autosomal dominant polycystic kidney disease and alpha -4.2 thalassemia in a Caucasian family.
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| 44. |
Watson ML et al. (1987) Studies of genetic linkage between adult polycystic kidney disease and three markers on chromosome 16.
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| 45. |
Reeders ST et al. (1988) Regional localization of the autosomal dominant polycystic kidney disease locus.
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| 46. |
Jordon D et al. (1989) Caroli's disease and adult polycystic kidney disease: a rarely recognized association.
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| 47. |
Gal A et al. (1989) Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity.
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| 48. |
Reeders ST et al. () A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16.
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| 49. |
Terada T et al. (1988) Congenital biliary dilatation in autosomal dominant adult polycystic disease of the liver and kidneys.
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| 50. |
Pretorius DH et al. (1987) Diagnosis of autosomal dominant polycystic kidney disease in utero and in the young infant.
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| 51. |
Sedman A et al. (1987) Autosomal dominant polycystic kidney disease in childhood: a longitudinal study.
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| 52. |
De Bono DP et al. (1977) The management of polycystic kidney disease with special reference to dialysis and transplantation.
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| 53. |
Hossack KF et al. (1988) Echocardiographic findings in autosomal dominant polycystic kidney disease.
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| 54. |
Reeders ST et al. (1987) A study of genetic linkage heterogeneity in adult polycystic kidney disease.
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| 55. |
Zerres K et al. (1985) Prenatal diagnosis of genetically determined early manifestation of autosomal dominant polycystic kidney disease?
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| 56. |
Zerres K et al. (1985) Acquired cystic kidney disease--a possible pitfall in genetic counseling.
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| 57. |
Kaye C et al. (1974) Congenital appearance of adult-type (autosomal dominant) polycystic kidney disease.
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| 58. |
Chanmugam D et al. (1971) Genetic intelligence: hereditary spherocytosis and polycystic disease of the kidneys in four members of a family.
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| 59. |
None (1968) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 16-1968.
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| 60. |
Emery AE et al. (1967) Myotonic dystrophy and polycystic disease of the kidneys.
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| 61. |
Sanfilippo FP et al. (1983) Transplantation for polycystic kidney disease.
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| 62. |
Zerres K et al. (1984) Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.
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| 63. |
Winichagoon P et al. (1984) The molecular basis of alpha-thalassaemia in Thailand.
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| 64. |
Sahney S et al. (1983) Adult polycystic kidney disease: presymptomatic diagnosis for genetic counselling.
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| 65. |
Tazelaar HD et al. (1984) Congenital hepatic fibrosis and asymptomatic familial adult-type polycystic kidney disease in a 19-year-old woman.
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| 66. |
Bear JC et al. (1984) Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: data for genetic counselling.
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| 67. |
Scheff RT et al. (1980) Diverticular disease in patients with chronic renal failure due to polycystic kidney disease.
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| 68. |
Wolf B et al. (1978) Presymptomatic diagnosis of adult onset polycystic kidney disease by ultrasonography.
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| 69. |
Wakabayashi T et al. (1983) Polycystic kidney disease and intracranial aneurysms. Early angiographic diagnosis and early operation for the unruptured aneurysm.
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| 70. |
Levey AS et al. (1983) Occult intracranial aneurysms in polycystic kidney disease. When is cerebral arteriography indicated?
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| 71. |
None (1978) Expression of "adult" polycystic renal disease in the fetus and newborn.
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| 72. |
Dyer PA et al. (1982) Absence of linkage between adult polycystic kidney disease and the major histocompatibility system.
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| 73. |
Sahney S et al. (1982) Genetic counseling in adult polycystic kidney disease.
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| 74. |
Hogewind BL et al. (1980) Genetic counselling for adult polycystic kidney disease. Ultrasound a useful tool in pre-symptomatic diagnosis?
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| 75. |
Turco AE et al. (1995) A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family.
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| 76. |
Peral B et al. (1995) Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion.
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| 78. |
Hughes J et al. (1995) The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains.
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| 79. |
None (1995) Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. The International Polycystic Kidney Disease Consortium.
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| 80. |
None (1995) Apoptosis and loss of renal tissue in polycystic kidney diseases.
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| 81. |
Peral B et al. (1993) Estimating locus heterogeneity in autosomal dominant polycystic kidney disease (ADPKD) in the Spanish population.
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| 82. |
Ravine D et al. (1994) Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1.
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| 83. |
Woo DD et al. (1994) Taxol inhibits progression of congenital polycystic kidney disease.
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| 84. |
Wunderle VM et al. (1994) Breakpoint break for consortium studying adult polycystic kidney disease.
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| 85. |
None (1994) The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium.
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| 86. |
Somlo S et al. (1993) A kindred exhibiting cosegregation of an overlap connective tissue disorder and the chromosome 16 linked form of autosomal dominant polycystic kidney disease.
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| 88. |
Ye M et al. (1993) The secretion of fluid by renal cysts from patients with autosomal dominant polycystic kidney disease.
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| 89. |
None (1993) Autosomal dominant polycystic kidney disease.
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| 90. |
Dobin A et al. (1993) Segregation analysis of autosomal dominant polycystic kidney disease.
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| 92. |
Peral B et al. (1996) Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.
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| 93. |
None (1995) Prognosis of autosomal dominant polycystic kidney disease.
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| 94. |
Ward CJ et al. (1996) Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney.
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| 95. |
Geberth S et al. (1995) More adverse renal prognosis of autosomal dominant polycystic kidney disease in families with primary hypertension.
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| 96. |
Peral B et al. (1996) A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1).
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| 97. |
Torra R et al. (1996) Abdominal aortic aneurysms and autosomal dominant polycystic kidney disease.
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| 98. |
Qian F et al. (1996) The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.
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| 99. |
Brasier JL et al. (1997) Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis.
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| 100. |
None (1997) Extrarenal manifestations of ADPKD.
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| 101. |
Jeffery S et al. (1998) Apparent normalisation of fetal renal size in autosomal dominant polycystic kidney disease (PKD1).
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| 102. |
Higashihara E et al. (1998) Prevalence and renal prognosis of diagnosed autosomal dominant polycystic kidney disease in Japan.
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| 103. |
OMIM.ORG article Omim 173900
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| 104. |
Wikipedia article Wikipedia EN (Polycystin_1)
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