Results 31 to 40 of about 9,217 (165)
Multimerization of Zika Virus-NS5 Causes Ciliopathy and Forces Premature Neurogenesis [PDF]
, 2021 Zika virus (ZikV) is a flavivirus that infects neural tissues, causing congenital microcephaly. ZikV has evolved multiple mechanisms to restrict proliferation and enhance cell death, although the underlying cellular events involved remain unclear.
Flores-Mendez, Marco +10 more
core +1 more source
Stem Cell Research, 2018 Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement.
Jessica Rosati +10 more
doaj +1 more source
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. [PDF]
, 2015 Mutations in microtubule-regulating genes are associated with disorders of neuronal migration and microcephaly. Regulation of centriole length has been shown to underlie the pathogenesis of certain ciliopathy phenotypes.
Hubank, M +34 more
core +2 more sources
CiliaCarta: An integrated and validated compendium of ciliary genes.
PLoS ONE, 2019 The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies.
Teunis J P van Dam +48 more
doaj +1 more source
On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies
Frontiers in Cell and Developmental Biology, 2021 Ciliopathies are a group of heterogeneous inherited disorders associated with dysfunction of the cilium, a ubiquitous microtubule-based organelle involved in a broad range of cellular functions. Most ciliopathies are syndromic, since several organs whose
Laura Sánchez-Bellver +6 more
doaj +1 more source
Ciliary Hedgehog signaling regulates cell survival to build the facial midline
eLife, 2021 Craniofacial defects are among the most common phenotypes caused by ciliopathies, yet the developmental and molecular etiology of these defects is poorly understood.
Shaun R Abrams, Jeremy F Reiter
doaj +1 more source
A family of congenital hepatic fibrosis and atypical retinitis pigmentosa
Clinics and Practice, 2015 Congenital hepatic fibrosis is a rare cause of portal hypertension and esophageal varices in children. We report cases of siblings with biopsy proven congenital hepatic fibrosis and with atypical retinitis pigmentosa.
Sunil Pawar +5 more
doaj +1 more source
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
, 2021 Ciliary extracellular vesicles (ciEVs), released from primary cilia, contain functional proteins that play an important role in cilia structure and functions.
Mohieldin, Ashraf M. +3 more
core +1 more source
Congenital hepatic fibrosis: case report and review of literature
The Pan African Medical Journal, 2021 Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease derived from biliary dysgenesis secondary to ductal plate malformation; it often coexists with Caroli’s disease, von Meyenburg complexes, autosomal dominant polycystic kidney disease
Brahim El Hasbaoui +6 more
doaj +1 more source