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POLYCYSTIC KIDNEY DISEASE 1

Known as: APKD1, PKD1, POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE I 
National Institutes of Health

Related topics

Related topics

8 relations
Autosomal dominant inheritanceColon diverticulum anatomic structureGenetic HeterogeneityHepatic cysts

Papers overview

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Highly Cited
2013
Highly Cited
2013
Type of PKD1 mutation influences renal outcome in ADPKD.
Autosomal dominant polycystic kidney disease (ADPKD) is heterogeneous with regard to genic and allelic heterogeneity, as well as… 
Highly Cited
2012
Highly Cited
2012
Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients
Autosomal dominant polycystic kidney disease (ADPKD), the most common inherited kidney disorder, is caused by mutations in PKD1… 
Highly Cited
1999
Highly Cited
1999
Specific association of the gene product of PKD2 with the TRPC1 channel.
The function(s) of the genes (PKD1 and PKD2) responsible for the majority of cases of autosomal dominant polycystic kidney… 
Review
1997
Review
1997
Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.
Tuberous sclerosis is an autosomal dominant trait characterized by the development of hamartomatous growths in many organs. Renal… 
Highly Cited
1997
Highly Cited
1997
Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2.
PKD1 and PKD2 are two recently identified genes that are responsible for the vast majority of autosomal polycystic kidney disease… 
Highly Cited
1997
Highly Cited
1997
PKD1 interacts with PKD2 through a probable coiled-coil domain
Autosomal dominant polycystic kidney disease (ADPKD) describes a group of at least three genetically distinct disorders with… 
Highly Cited
1997
Highly Cited
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.
It is not known whether mutations in the PKD1 gene cause autosomal dominant polycystic kidney disease (PKD) by an activating… 
Highly Cited
1996
Highly Cited
1996
The sea urchin sperm receptor for egg jelly is a modular protein with extensive homology to the human polycystic kidney disease protein, PKD1
During fertilization, the sea urchin sperm acrosome reaction (AR), an ion channel-regulated event, is triggered by glycoproteins… 
Highly Cited
1994
Highly Cited
1994
Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome
Major genes which cause tuberous sclerosis (TSC) and autosomal dominant polycystic kidney disease (ADPKD), known as TSC2 and PKD1… 
Highly Cited
1990
Highly Cited
1990
The diagnosis and prognosis of autosomal dominant polycystic kidney disease.
BACKGROUND Autosomal dominant polycystic kidney disease is usually caused by a mutant gene at the PKD1 locus on the short arm of… 
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