Results 41 to 50 of about 12,076 (219)
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
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
Zebrafish Assays of Ciliopathies [PDF]
, 2011 In light of the growing list of human disorders associated with their dysfunction, primary cilia have recently come to attention as being important regulators of developmental signaling pathways and downstream processes. These organelles, present on nearly every vertebrate cell type, are highly conserved structures allowing for study across a range of ...
Norann A, Zaghloul, Nicholas, Katsanis
openaire +2 more sources
Frontiers in Genetics, 2021 Variants in the GLIS family zinc finger protein 2 (GLIS2) are a rare cause of nephronophthisis-related ciliopathies (NPHP-RC). A reduction in urinary concentration and a progressive chronic tubulointerstitial nephropathy with corticomedullary cysts are ...
Intisar Al Alawi +10 more
doaj +1 more source
Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish [PDF]
, 2017 The authors would like to thank the Royal Society of London, the National Eye Research Centre, the Visual Research Trust, Fight for Sight, the W.H. Ross Foundation, the Rosetrees Trust, and the Glasgow Children’s Hospital Charity for supporting this work.
A Eblimit +54 more
core +4 more sources
Characterizing the morbid genome of ciliopathies [PDF]
, 2016 Background Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome ...
A Poretti +75 more
core +1 more source
口腔疾病防治, 2022 Fibroblast growth factor 8 (FGF8) is a kind of secretory polypeptide that has crucial roles in the development of various tissues and organs. Current studies have found that FGF8 can regulate the differentiation of cranial neural crest cells by ...
CAO Xiaoling, XIE Jing, ZHOU Xuedong
doaj +1 more source
Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease [PDF]
, 2017 The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein related to the Sonic hedgehog receptor, Patched, and involved in intracellular trafficking of ...
Canterini, Sonia +7 more
core +1 more source
Review on Genes related to Postaxial Polydactyly
Frontiers in Pediatrics, 2015 Background: Postaxial polydactyly (PAP) is one of the commonest congenital malformations and usually is associated to several syndromes . There is no primary investigational strategy for PAP cases with single gene disorder in literature.
Ashraf AbdulRahman El-Harouni +1 more
doaj +1 more source
Ciliogenesis and the DNA damage response: A stressful relationship [PDF]
, 2016 Both inherited and sporadic mutations can give rise to a plethora of human diseases. Through myriad diverse cellular processes, sporadic mutations can arise through a failure to accurately replicate the genetic code or by inaccurate separation of ...
Collis, SJ, Johnson, CA
core +3 more sources