Genetics of chronic kidney disease
A Vivante - New England Journal of Medicine, 2024 - Mass Medical Soc
Key Points Genetics of Chronic Kidney Disease Genetic causes of chronic kidney disease
(CKD) are not uncommon. Patients with CKD should be referred for genetic consultation and …
(CKD) are not uncommon. Patients with CKD should be referred for genetic consultation and …
Polycystic kidney disease
C Bergmann, LM Guay-Woodford, PC Harris… - Nature reviews Disease …, 2018 - nature.com
Cystic kidneys are common causes of end-stage renal disease, both in children and in
adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive …
adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive …
Structural biology of cilia and intraflagellar transport
Cilia are ubiquitous microtubule-based eukaryotic organelles that project from the cell to
generate motility or function in cellular signaling. Motile cilia or flagella contain axonemal …
generate motility or function in cellular signaling. Motile cilia or flagella contain axonemal …
Identification of potent inhibitors of NEK7 protein using a comprehensive computational approach
NIMA related Kinases (NEK7) plays an important role in spindle assembly and mitotic
division of the cell. Over expression of NEK7 leads to the progression of different cancers …
division of the cell. Over expression of NEK7 leads to the progression of different cancers …
Causes and consequences of replication stress
MK Zeman, KA Cimprich - Nature cell biology, 2014 - nature.com
Replication stress is a complex phenomenon that has serious implications for genome
stability, cell survival and human disease. Generation of aberrant replication fork structures …
stability, cell survival and human disease. Generation of aberrant replication fork structures …
Motile and non‐motile cilia in human pathology: from function to phenotypes
Ciliopathies are inherited human disorders caused by both motile and non‐motile cilia
dysfunction that form an important and rapidly expanding disease category. Ciliopathies are …
dysfunction that form an important and rapidly expanding disease category. Ciliopathies are …
Evolving importance of kidney disease: from subspecialty to global health burden
In the past decade, kidney disease diagnosed with objective measures of kidney damage
and function has been recognised as a major public health burden. The population …
and function has been recognised as a major public health burden. The population …
Map** of neuronal and glial primary cilia contactome and connectome in the human cerebral cortex
Primary cilia act as antenna receivers of environmental signals and enable effective
neuronal or glial responses. Disruption of their function is associated with circuit disorders …
neuronal or glial responses. Disruption of their function is associated with circuit disorders …
YAP and TAZ: a nexus for Hippo signaling and beyond
The Hippo pathway is a potent regulator of cellular proliferation, differentiation, and tissue
homeostasis. Here we review the regulatory mechanisms of the Hippo pathway and discuss …
homeostasis. Here we review the regulatory mechanisms of the Hippo pathway and discuss …
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 …
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …