Results 131 to 140 of about 9,301 (255)
A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome [PDF]
, 2019 Recent recognition of the key role of primary cilia in orchestrating human development and of the dire consequences of their dysfunction on human health has placed this small organelle in the spotlight.
Bachmann-Gagescu, Ruxandra
core +1 more source
International Journal of Dental Hygiene, Volume 23, Issue 2, Page 362-373, May 2025.ABSTRACT Objectives Children and young patients with chronic kidney disease (CKD) are at persistent risk of gingivitis despite usual preventive measures. This clinical study aimed to determine the efficacy of an intensive oral preventive programme (OPP) for young patients with CKD in treating plaque‐induced gingivitis modified by systemic factors ...
Karolin C. Höfer +7 more
wiley +1 more source
Phosphoinositide lipids in primary cilia biology [PDF]
, 2020 Primary cilia are solitary signalling organelles projecting from the surface of most cell types. Although the ciliary membrane is continuous with the plasma membrane it exhibits a unique phospholipid composition, a feature essential for normal cilia ...
Conduit, SE, Vanhaesebroeck, B
core
ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability [PDF]
, 2019 Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy, characterized by a pathognomonic hindbrain malformation. All known JBTS-genes encode proteins involved in the structure or function of primary cilia, ubiquitous antenna-like organelles
Alkuraya, Fowzan S +21 more
core +1 more source
eLife, 2017 The proper development of the vocal cords requires embryos to contain a certain number of progenitor cells, and mutations that lead to an overflow of cells can cause malformations of the voice box.
Ralph Marcucio
doaj +1 more source
Motile and non-motile cilia in human pathology: from function to phenotypes [PDF]
, 2016 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 complex conditions to diagnose, being multisystem disorders characterized by
Mitchison, Hannah M. +1 more
core +2 more sources
Identification of ciliary and ciliopathy genes in Caenorhabditis elegans through comparative genomics. [PDF]
, 2006 Nansheng Chen +18 more
openalex +1 more source
Medicine, 2011 Primary cilia are hair-like organelles expressed by almost every cell in the body. Although they were first recognized at the end of the 19th century, their functions remained obscure until the last decade. It is increasingly recognized that disorders of cilia structure or function underlie a number of rare human genetic diseases that affect the kidney
Albert C.M. Ong +3 more
openaire +2 more sources
Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis
Cell Reports, 2018 Ciliopathies are a group of genetic disorders caused by a failure to form functional cilia. Due to a lack of structural information, it is currently poorly understood how ciliopathic mutations affect protein functionality to give rise to the underlying ...
Nimesh Joseph +7 more
doaj +1 more source