Genetics and pathogenesis of polycystic kidney disease

P Igarashi, S Somlo - Journal of the American Society of …, 2002 - journals.lww.com
Polycystic kidney disease (PKD), a common genetic cause of chronic renal failure in
children and adults, is characterized by the accumulation of fluid-filled cysts in the kidney …

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)

…, LF Onuchic, S Rossetti, PC Harris, S Somlo… - Human …, 2004 - Wiley Online Library
Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood
renal‐and liver‐related morbidity and mortality. The clinical spectrum is widely variable …

Molecular advances in autosomal dominant polycystic kidney disease

AR Gallagher, GG Germino, S Somlo - Advances in chronic kidney disease, 2010 - Elsevier
Autosomal dominant polycystic disease (ADPKD) is the most common form of inherited
kidney disease that results in renal failure. The understanding of the pathogenesis of …

PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein

…, MH Breuning, CC Deltas, DJM Peters, S Somlo - Science, 1996 - science.org
A second gene for autosomal dominant polycystic kidney disease was identified by
positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in …

[HTML][HTML] Two populations of node monocilia initiate left-right asymmetry in the mouse

J McGrath, S Somlo, S Makova, X Tian, M Brueckner - Cell, 2003 - cell.com
The vertebrate body plan has conserved handed left-right (LR) asymmetry that is manifested
in the heart, lungs, and gut. Leftward flow of extracellular fluid at the node (nodal flow) is …

Polycystin-2 is an intracellular calcium release channel

…, S Nishimura, R Witzgall, BE Ehrlich, S Somlo - Nature cell …, 2002 - nature.com
Polycystin-2, the product of the gene mutated in type 2 autosomal dominant polycystic
kidney disease (ADPKD), is the prototypical member of a subfamily of the transient receptor …

DCDC2 is associated with reading disability and modulates neuronal development in the brain

…, J Gelernter, T O'Reilly-Pol, S Somlo… - Proceedings of the …, 2005 - National Acad Sciences
DYX2 on 6p22 is the most replicated reading disability (RD) locus. By saturating a
previously identified peak of association with single nucleotide polymorphism markers, we …

Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease

…, AM Sinclair, LSB Goldstein, S Somlo… - Proceedings of the …, 2003 - National Acad Sciences
Polycystic kidney disease (PKD) is the most common genetic cause of renal failure in
humans. Several proteins that are encoded by genes associated with PKD have recently …

PKD1 interacts with PKD2 through a probable coiled-coil domain

F Qian, FJ Germino, Y Cai, X Zhang, S Somlo… - Nature …, 1997 - nature.com
Autosomal dominant polycystic kidney disease (ADPKD) describes a group of at least three
genetically distinct disorders with almost identical clinical features1–6 that collectively affects …

[PDF][PDF] PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription–factor …

…, K Zerres, LM Guay-Woodford, S Somlo… - The American Journal of …, 2002 - cell.com
Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic
kidney disease that presents primarily in infancy and childhood and that is characterized by …