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Polycystic Kidney Diseases

Known as: KIDNEY POLYCYSTIC, Renal Diseases, Polycystic, congenital polycystic kidney 
A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys… 
National Institutes of Health

Related topics

Related topics

39 relations

Narrower (11)

Arima syndromeDaneman Davy Mancer syndromeMECKEL SYNDROME, TYPE 2MECKEL SYNDROME, TYPE 4
Autosomal Recessive Polycystic Kidney DiseaseCongenital cystic kidney diseaseHyperparathyroidism-Jaw Tumor SyndromeIn Blood

Broader (4)

Cystic kidneyHereditary DiseasesKidney Neoplasmcongenital kidney disorder

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2019
Highly Cited
2019
Polycystic kidney disease
Polycystic kidney disease (PKD) is a monogenic, hereditary disorder of the kidneys that leads to fluid-filled cysts within the… 
Highly Cited
2010
Highly Cited
2010
Sirolimus and kidney growth in autosomal dominant polycystic kidney disease.
BACKGROUND In autosomal dominant polycystic kidney disease (ADPKD), aberrant activation of the mammalian target of rapamycin… 
Review
2009
Review
2009
Autosomal dominant polycystic kidney disease: the last 3 years.
Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal monogenic disorder. It has large inter… 
Highly Cited
2006
Highly Cited
2006
The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease.
Autosomal-dominant polycystic kidney disease (ADPKD) is a common genetic disorder that frequently leads to renal failure… 
Review
2004
Review
2004
Polycystic kidney disease.
Polycystic kidney diseases are inherited renal disorders due mainly to mutations in genes that regulate the development and… 
Highly Cited
2002
Highly Cited
2002
The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia.
Recent evidence has suggested an association between structural and/or functional defects in the primary apical cilium of… 
Highly Cited
2000
Highly Cited
2000
Chlamydomonas IFT88 and Its Mouse Homologue, Polycystic Kidney Disease Gene Tg737, Are Required for Assembly of Cilia and Flagella
Intraflagellar transport (IFT) is a rapid movement of multi-subunit protein particles along flagellar microtubules and is… 
Highly Cited
1996
Highly Cited
1996
PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this… 
Highly Cited
1995
Highly Cited
1995
The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains
Characterization of the polycystic kidney disease 1 (PKD1) gene has been complicated by genomic rearrangements on chromosome 16… 
Highly Cited
1985
Highly Cited
1985
A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16
Adult polycystic kidney disease (APCKD) is a common and often lethal multi-organ disease with an autosomal dominant pattern of… 
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