Results 81 to 90 of about 12,076 (219)
Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome
Frontiers in Genetics, 2022 Cilia are quasi-ubiquitous microtubule-based sensory organelles, which play vital roles in signal transduction during development and cell homeostasis.
Tamara D. S. Rusterholz +5 more
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson +1 more
wiley +1 more source
Rab8a and Rab8b are essential for several apical transport pathways but insufficient for ciliogenesis [PDF]
, 2013 The small GTP-binding protein Rab8 is known to play an essential role in intracellular transport and cilia formation. We have previously demonstrated that Rab8a is required for localising apical markers in various organisms.
A. Harada +10 more
core +2 more sources
Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 3, June 2026.ABSTRACT Background Chronic obstructive pulmonary disease (COPD) is associated with musculoskeletal comorbidities, including cachexia. Weight loss (WL) is the major criterion for cachexia and increases risk for mortality in COPD. Risk factors for WL in COPD are incompletely understood.
Joe W. Chiles III +23 more
wiley +1 more source
Ciliopathies: an expanding disease spectrum [PDF]
Pediatric Nephrology, 2011 Ciliopathies comprise a group of disorders associated with genetic mutations encoding defective proteins, which result in either abnormal formation or function of cilia. As cilia are a component of almost all vertebrate cells, cilia dysfunction can manifest as a constellation of features that include characteristically, retinal degeneration, renal ...
Waters, Aoife M., Beales, Philip L.
openaire +2 more sources
A Case Report on the Bardet Biedl Syndrome with Hypokalaemic Paralysis [PDF]
Journal of Clinical and Diagnostic Research, 2013 The Bardet-Biedl syndrome (BBS), a rare autosomal recessive disorder, was first described by Bardet and Biedl in 1920. Here, we are reporting a case of the Bardet-Biedl syndrome with hypokalaemic paralysis.
Prasanth Y.M. +4 more
doaj +1 more source
Insights into centriole geometry revealed by cryotomography of doublet and triplet centrioles. [PDF]
, 2018 Centrioles are cylindrical assemblies comprised of 9 singlet, doublet, or triplet microtubules, essential for the formation of motile and sensory cilia.
Agard, David A +3 more
core +1 more source
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. [PDF]
, 2016 Cone-rod degeneration (CRD) belongs to the disease spectrum of retinal degenerations, a group of hereditary disorders characterized by an extreme clinical and genetic heterogeneity.
Andréasson, S. +26 more
core +2 more sources
Cilia in Nervous System Development, Function, and Disease
MedComm – Future Medicine, Volume 5, Issue 2, June 2026.Cilia are evolutionarily conserved organelles that function as essential sensory and motility platforms in the nervous system. This review outlines key cilia‐dependent signaling pathways and their roles in neural development and function. Furthermore, it highlights how ciliary dysfunction can lead to a variety of neurological disorders, known as ...
Qingchao Li, Anqi Zhang, Ting Song
wiley +1 more source
Clinical Case Reports, 2023 Key Clinical Message We present the case of a 41‐year‐old man patient diagnosed with solitary left kidney with few cysts. He has a family history of unilateral renal agenesis (URA) but no for autosomal dominant polycystic kidney disease (ADPKD).
Romina Bucci +7 more
doaj +1 more source