Results 51 to 60 of about 16,795 (294)
The ciliary GTPase Arl13b regulates cell migration and cell cycle progression [PDF]
, 2016 Acknowledgments We acknowledge Prof. Tamara Caspary from Emory University for kindly providing the cell lines, Linda Duncan from the University of Aberdeen Ian Fraser Cytometry Center for help with flow cytometry.
Clancy, Hannah +6 more
core +2 more sources
A systems-biology approach to understanding the ciliopathy disorders. [PDF]
, 2011 'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary structure/function.
Gleeson, Joseph G, Lee, Ji Eun
core +1 more source
Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry [PDF]
, 2016 The establishment of left–right (L-R) asymmetry in vertebrates is dependent on the sensory and motile functions of cilia during embryogenesis. Mutations in CCDC11 disrupt L-R asymmetry and cause congenital heart disease in humans, yet the molecular and ...
Betleja, Ewelina +8 more
core +2 more sources
Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features. [PDF]
, 2016 Purpose:To report atypical presentation of neuronal ceroid lipofuscinoses type 8 (CLN8) to the eye clinic and review clinical features of CLN8. Observations:Detailed eye exam by slit lamp exam, indirect ophthalmoscopy, fundus photography, optical ...
Collins, Christin D +6 more
core +2 more sources
Ciliary Genes in Renal Cystic Diseases
Cells, 2020 Cilia are microtubule-based organelles, protruding from the apical cell surface and anchoring to the cytoskeleton. Primary (nonmotile) cilia of the kidney act as mechanosensors of nephron cells, responding to fluid movements by triggering signal ...
Anna Adamiok-Ostrowska +1 more
doaj +1 more source
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022 We reviewed sequencing, variant and clinical data from patients recruited to the “ Congenital Malformations caused by Ciliopathies ” (CMC) cohort of the UK 100,000 Genomes Project (100K) (Best et al., 2021).
Sunayna Best +5 more
semanticscholar +1 more source
Sperm dysfunction and ciliopathy [PDF]
Reproductive Medicine and Biology, 2015 AbstractSperm motility is driven by motile cytoskeletal elements in the tail, called axonemes. The structure of axonemes consists of 9 + 2 microtubules, molecular motors (dyneins), and their regulatory structures. Axonemes are well conserved in motile cilia and flagella through eukaryotic evolution.
Kazuo, Inaba, Katsutoshi, Mizuno
openaire +2 more sources
Identification of PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome [PDF]
, 2019 Biliary atresia (BA) is the most common cause of end‐stage liver disease in children and the primary indication for pediatric liver transplantation, yet underlying etiologies remain unknown.
Alonso, Estella M +33 more
core +2 more sources
Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome
Frontiers in Genetics, 2022 Ciliopathies are a class of inherited severe human disorders that occur due to defective formation or function of cilia. The RPGRIP1L (retinitis pigmentosa GTPase regulator-interacting protein1-like) gene encodes for a ciliary protein involved in ...
Laura Moreno-Leon +5 more
doaj +1 more source
Ciliary Dyneins and Dynein Related Ciliopathies
Cells, 2021 Although ubiquitously present, the relevance of cilia for vertebrate development and health has long been underrated. However, the aberration or dysfunction of ciliary structures or components results in a large heterogeneous group of disorders in ...
D. Antony, H. Brunner, M. Schmidts
semanticscholar +1 more source