Primary cilia as dynamic and diverse signalling hubs in development and disease
Primary cilia, antenna-like sensory organelles protruding from the surface of most vertebrate
cell types, are essential for regulating signalling pathways during development and adult …
cell types, are essential for regulating signalling pathways during development and adult …
Sperm defects in primary ciliary dyskinesia and related causes of male infertility
The core axoneme structure of both the motile cilium and sperm tail has the same
ultrastructural 9+ 2 microtubular arrangement. Thus, it can be expected that genetic defects …
ultrastructural 9+ 2 microtubular arrangement. Thus, it can be expected that genetic defects …
Genetic and chemotherapeutic influences on germline hypermutation
Mutations in the germline generates all evolutionary genetic variation and is a cause of
genetic disease. Parental age is the primary determinant of the number of new germline …
genetic disease. Parental age is the primary determinant of the number of new germline …
Diverse monogenic subforms of human spermatogenic failure
L Nagirnaja, AM Lopes, WL Charng, B Miller… - Nature …, 2022 - nature.com
Non-obstructive azoospermia (NOA) is the most severe form of male infertility and typically
incurable. Defining the genetic basis of NOA has proven challenging, and the most …
incurable. Defining the genetic basis of NOA has proven challenging, and the most …
De novo mutations in FOXJ1 result in a motile ciliopathy with hydrocephalus and randomization of left/right body asymmetry
J Wallmeier, D Frank, A Shoemark… - The American Journal of …, 2019 - cell.com
Hydrocephalus is one of the most prevalent form of developmental central nervous system
(CNS) malformations. Cerebrospinal fluid (CSF) flow depends on both heartbeat and body …
(CNS) malformations. Cerebrospinal fluid (CSF) flow depends on both heartbeat and body …
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype
SR Senum, YSM Li, KA Benson, G Joli… - The American Journal of …, 2022 - cell.com
Autosomal dominant polycystic kidney disease (ADPKD), characterized by progressive cyst
formation/expansion, results in enlarged kidneys and often end stage kidney disease …
formation/expansion, results in enlarged kidneys and often end stage kidney disease …
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis
Background Bronchiectasis can result from infectious, genetic, immunological and allergic
causes. 60–80% of cases are idiopathic, but a well-recognised genetic cause is the motile …
causes. 60–80% of cases are idiopathic, but a well-recognised genetic cause is the motile …
Multiple genome alignment in the telomere-to-telomere assembly era
With the arrival of telomere-to-telomere (T2T) assemblies of the human genome comes the
computational challenge of efficiently and accurately constructing multiple genome …
computational challenge of efficiently and accurately constructing multiple genome …
Bardet–Biedl syndrome—Multiple kaleidoscope images: insight into mechanisms of genotype–phenotype correlations
Bardet–Biedl Syndrome is a rare non-motile primary ciliopathy with multisystem involvement
and autosomal recessive inheritance. The clinical picture is extremely polymorphic. The …
and autosomal recessive inheritance. The clinical picture is extremely polymorphic. The …
Phosphoinositides in new spaces
EM Davies, CA Mitchell… - Cold Spring Harbor …, 2023 - cshperspectives.cshlp.org
Phosphoinositides (PIs) are phospholipids derived from phosphatidylinositol. PIs are
regulated via reversible phosphorylation, which is directed by the opposing actions of PI …
regulated via reversible phosphorylation, which is directed by the opposing actions of PI …