Ciliopathies

DA Braun, F Hildebrandt - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …

Ciliopathies

F Hildebrandt, T Benzing… - New England Journal of …, 2011 - Mass Medical Soc
Ciliopathies | NEJM Skip to main content NEJM Group Follow Us Facebook Twitter Instagram
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[图书][B] Campbell Walsh Wein Urology, E-Book: 3-Volume Set

AW Partin, RR Dmochowski, LR Kavoussi, CA Peters… - 2020 - books.google.com
From the basic science underpinnings to the most recent developments in medical and
surgical care, Campbell-Walsh-Wein Urology offers a depth and breadth of coverage you …

Cellular senescence in renal ageing and disease

I Sturmlechner, M Durik, CJ Sieben, DJ Baker… - Nature Reviews …, 2017 - nature.com
The senescence programme is implicated in diverse biological processes, including
embryogenesis, tissue regeneration and repair, tumorigenesis, and ageing. Although in vivo …

Transient receptor potential (TRP) channels: a clinical perspective

Y Kaneko, A Szallasi - British journal of pharmacology, 2014 - Wiley Online Library
Transient receptor potential (TRP) channels are important mediators of sensory signals with
marked effects on cellular functions and signalling pathways. Indeed, mutations in genes …

Unified criteria for ultrasonographic diagnosis of ADPKD

Y Pei, J Obaji, A Dupuis, AD Paterson… - Journal of the …, 2009 - journals.lww.com
Individuals who are at risk for autosomal dominant polycystic kidney disease are often
screened by ultrasound using diagnostic criteria derived from individuals with mutations in …

[HTML][HTML] Extracellular vesicles and exosomes generated from cystic renal epithelial cells promote cyst growth in autosomal dominant polycystic kidney disease

H Ding, LX Li, PC Harris, J Yang, X Li - Nature communications, 2021 - nature.com
Autosomal dominant polycystic kidney disease (ADPKD) is caused by germline mutations of
PKD1 or PKD2 on one allele and a somatic mutation inactivating the remaining normal …

Autosomal dominant polycystic kidney disease

JJ Grantham - New England Journal of Medicine, 2008 - Mass Medical Soc
Shortly after being elbowed in the flank during a basketball game, a 35-year-old healthy
man has severe, colicky abdominal pain followed by gross hematuria. A renal ultrasound …

Polycystic kidney disease

PD Wilson - New England Journal of Medicine, 2004 - Mass Medical Soc
Polycystic kidney diseases are inherited renal disorders due mainly to mutations in genes
that regulate the development and function of cells that line renal tubules. This review …

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

JM Shillingford, NS Murcia… - 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 …