Genes and molecular pathways underpinning ciliopathies
Motile and non-motile (primary) cilia are nearly ubiquitous cellular organelles. The
dysfunction of cilia causes diseases known as ciliopathies. The number of reported …
dysfunction of cilia causes diseases known as ciliopathies. The number of reported …
The integrated stress response
In response to diverse stress stimuli, eukaryotic cells activate a common adaptive pathway,
termed the integrated stress response (ISR), to restore cellular homeostasis. The core event …
termed the integrated stress response (ISR), to restore cellular homeostasis. The core event …
A stay of execution: ATF4 regulation and potential outcomes for the integrated stress response
G Neill, GR Masson - Frontiers in Molecular Neuroscience, 2023 - frontiersin.org
ATF4 is a cellular stress induced bZIP transcription factor that is a hallmark effector of the
integrated stress response. The integrated stress response is triggered by phosphorylation …
integrated stress response. The integrated stress response is triggered by phosphorylation …
Reverse genetic screening reveals poor correlation between morpholino-induced and mutant phenotypes in zebrafish
The widespread availability of programmable site-specific nucleases now enables targeted
gene disruption in the zebrafish. In this study, we applied site-specific nucleases to generate …
gene disruption in the zebrafish. In this study, we applied site-specific nucleases to generate …
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 …
Ciliopathies
F Hildebrandt, T Benzing… - New England Journal of …, 2011 - Mass Medical Soc
Ciliopathies | New England Journal of Medicine Skip to main content The New England Journal
of Medicine homepage Advanced Search SEARCH SPECIALTIES Cardiology Clinical Medicine …
of Medicine homepage Advanced Search SEARCH SPECIALTIES Cardiology Clinical Medicine …
Exploring the genetic basis of early-onset chronic kidney disease
A Vivante, F Hildebrandt - Nature Reviews Nephrology, 2016 - nature.com
The primary causes of chronic kidney disease (CKD) in children differ from those of CKD in
adults. In the USA the most common diagnostic groups of renal disease that manifest before …
adults. In the USA the most common diagnostic groups of renal disease that manifest before …
Seriously cilia: A tiny organelle illuminates evolution, disease, and intercellular communication
C Derderian, GI Canales, JF Reiter - Developmental cell, 2023 - cell.com
The borders between cell and developmental biology, which have always been permeable,
have largely dissolved. One manifestation is the blossoming of cilia biology, with cell and …
have largely dissolved. One manifestation is the blossoming of cilia biology, with cell and …
Identification and correction of mechanisms underlying inherited blindness in human iPSC-derived optic cups
Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that causes childhood
blindness. Photoreceptors are especially sensitive to an intronic mutation in the cilia-related …
blindness. Photoreceptors are especially sensitive to an intronic mutation in the cilia-related …
Whole exome sequencing of patients with steroid-resistant nephrotic syndrome
JK Warejko, W Tan, A Daga, D Schapiro… - Clinical Journal of the …, 2018 - journals.lww.com
Results In 74 of 300 families (25%), we identified a causative mutation in one of 20 genes
known to cause steroid-resistant nephrotic syndrome. In 11 families (3.7%), we detected a …
known to cause steroid-resistant nephrotic syndrome. In 11 families (3.7%), we detected a …