Nephrology Medical News about Cystic Kidney Disease

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Lethal Cystic Kidney Disease in Amish Neonates Associated With Homozygous Nonsense Mutation of NPHP3
American Journal of Kidney Diseases, 03/25/09

Simpson MA et al. - The presence of congenital malformations in the case series confirms the crucial role of NPHP3 in early embryonic development of the kidneys and urinary tract. The study also highlights the subtle variations in phenotypic expression in a cohort of patients with the same mutation in NPHP3.

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Cyclic nucleotide signaling in polycystic kidney disease
Kidney International, 11/19/09 Relevance Score: 81%

Cystic Changes of Breast in a Family With Autosomal Dominant Polycystic Kidney Disease
Iranian Journal of Kidney Diseases, 10/13/09 Relevance Score: 81%

Autosomal Dominant Polycystic Kidney Disease: New Treatment Options and How to Test Their Efficacy
Kidney and Blood Pressure Research, 11/06/09 Relevance Score: 79%

Loss of Tsc1, but not Pten, in renal tubular cells causes polycystic kidney disease by activating mTORC1
Human Molecular Genetics, 11/03/09 Relevance Score: 79%

Autosomal Dominant Polycystic Kidney Disease: Current and Emerging Treatments
Kidney, 10/30/09 Relevance Score: 79%