PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)

…, S Somlo, L Guay‐Woodford, GG Germino… - 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 ADPKD has …

Establishing a core outcome set for peritoneal dialysis: report of the SONG-PD (Standardized Outcomes in Nephrology–Peritoneal Dialysis) consensus workshop

…, E Goffin, F Finkelstein, G Abraham, G Germino… - American Journal of …, 2020 - Elsevier
Outcomes reported in randomized controlled trials in peritoneal dialysis (PD) are diverse, are
measured inconsistently, and may not be important to patients, families, and clinicians. The …

The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease

…, G Walz, KB Piontek, GG Germino… - Proceedings of the …, 2006 - National Acad Sciences
Autosomal-dominant polycystic kidney disease (ADPKD) is a common genetic disorder that
frequently leads to renal failure. Mutations in polycystin-1 (PC1) underlie most cases of …

Co-assembly of polycystin-1 and-2 produces unique cation-permeable currents

…, L Tsiokas, VP Sukhatme, WB Guggino, GG Germino - Nature, 2000 - nature.com
The human kidney is composed of roughly 1.2-million renal tubules that must maintain their
tubular structure to function properly. In autosomal dominant polycystic kidney disease (…

PKD1 interacts with PKD2 through a probable coiled-coil domain

…, FJ Germino, Y Cai, X Zhang, S Somlo, GG Germino - Nature …, 1997 - nature.com
Autosomal dominant polycystic kidney disease (ADPKD) describes a group of at least three
genetically distinct disorders with almost identical clinical features 1–6 that collectively …

Multiple-laboratory comparison of microarray platforms

…, E Gabrielson, JGN Garcia, J Geoghegan, G Germino… - Nature …, 2005 - nature.com
Microarray technology is a powerful tool for measuring RNA expression for thousands of
genes at once. Various studies have been published comparing competing platforms with …

[HTML][HTML] The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I

F Qian, TJ Watnick, LF Onuchic, GG Germino - Cell, 1996 - cell.com
Autosomal dominant polycystic kidney disease (ADPKD) is a common disease and an
important cause of renal failure. It is characterized by considerable intrafamilial phenotypic …

[HTML][HTML] PKD1 induces p21waf1 and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2

…, L Liu, F Qian, PN Xu, FJ Germino, GG Germino - Cell, 2002 - cell.com
Autosomal dominant polycystic kidney disease is characterized by cyst formation in the kidney
and other organs and results from mutations of PKD1 or PKD2. Previous studies suggest …

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

…, LM Guay-Woodford, S Somlo, GG Germino - 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 …