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. …
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 …
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 …
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 …
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
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 (…
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 …
genetically distinct disorders with almost identical clinical features 1–6 that collectively …
Multiple-laboratory comparison of microarray platforms
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 …
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 …
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 …
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 …
kidney disease that presents primarily in infancy and childhood and that is characterized by …