Results 31 to 40 of about 16,795 (294)

Editorial: Advances in cilia and flagella research [PDF]

Frontiers in Cell and Developmental Biology
Maureen Wirschell, Lance Lee, Aimin Liu
doaj   +2 more sources

Organization, functions, and mechanisms of the BBSome in development, ciliopathies, and beyond

eLife, 2023
The BBSome is an octameric protein complex that regulates ciliary transport and signaling. Mutations in BBSome subunits are closely associated with ciliary defects and lead to ciliopathies, notably Bardet-Biedl syndrome.
Xiaoyu Tian, Huijie Zhao, Jun Zhou
semanticscholar   +1 more source

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies. [PDF]

Sci Adv
Khan K, Tavares E, Bishara K, Ozanturk A, Qebibo L, Frangakis S, Calame DG, Meunier I, Bocquet B, Ploski R, Al Khateeb MA, Marafi D, Mansard L, Damaj L, Lewis RA, Ullah F, Arbogast T, Ogden JP, Harion M, Willems M, Zaki MS, Bartolomaeus T, Roux AF, Lupski JR, Rydzanicz M, Jamra RA, Ramond F, Heon E, Burglen L, Davis EE.   +29 more
europepmc   +2 more sources

Ciliopathies [PDF]

Cold Spring Harbor Perspectives in Biology, 2016
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that affect genes encoding proteins that localize to primary cilia or centrosomes. With few exceptions, ciliopathies are inherited in an autosomal recessive manner, and affected individuals manifest early during childhood or adolescence.
Daniela A, Braun, Friedhelm, Hildebrandt
openaire   +2 more sources

Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts

EBioMedicine, 2021
Background: Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy ...
Jonathan Eintracht, Elizabeth Forsythe, Helen May-Simera, Mariya Moosajee   +3 more
doaj   +1 more source

The importance of genomic profiling for differential diagnosis of pediatric lung disease patients with suspected ciliopathies [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2019
Introduction/Objective. Dysfunction of the axonemal structure leads to ciliopathies. Sensory and motile ciliopathies have been associated with numerous pediatric diseases, including respiratory diseases.
Anđelković Marina, Spasovski Vesna, Vreća Miša, Sovtić Aleksandar, Rodić Milan, Komazec Jovana, Pavlović Sonja, Minić Predrag   +7 more
doaj   +1 more source

Renal ciliopathies: promising drug targets and prospects for clinical trials

Expert opinion on therapeutic targets, 2023
Introduction Renal ciliopathies represent a collection of genetic disorders characterized by deficiencies in the biogenesis, maintenance, or functioning of the ciliary complex. These disorders, which encompass autosomal dominant polycystic kidney disease
L. Devlin, Praveen Dhondurao Sudhindar, J. Sayer   +2 more
semanticscholar   +1 more source

The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.

Annual review of genomics and human genetics (Print), 2022
The Joubert syndrome (JS), Meckel syndrome (MKS), and nephronophthisis (NPH) ciliopathy spectrum could be the poster child for advances and challenges in Mendelian human genetics over the past half century.
J. C. Van De Weghe, Arianna Gómez, D. Doherty   +2 more
semanticscholar   +1 more source

Primary cilia-associated protein IFT172 in ciliopathies

Frontiers in Cell and Developmental Biology, 2023
Cilium is a highly conserved antenna-like structure protruding from the surface of the cell membrane, which is widely distributed on most mammalian cells. Two types of cilia have been described so far which include motile cilia and immotile cilia and the
Nan-Xi Zheng, Ya-Ting Miao, Xi Zhang, Mu-Zhi Huang, Muhammad Jahangir, Shilin Luo, Shilin Luo, Bing Lang   +7 more
doaj   +1 more source

Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies

Journal of Developmental Biology, 2022
Primary cilia are specialized, microtubule-based structures projecting from the surface of most mammalian cells. These organelles are thought to primarily act as signaling hubs and sensors, receiving and integrating extracellular cues.
V. Karalis, Kathleen E. Donovan, M. Sahin   +2 more
semanticscholar   +1 more source