Results 91 to 100 of about 12,198 (227)
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
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Frontiers in Molecular Biosciences, 2022 Background:ALMS1 is a ubiquitous gene associated with Alström syndrome (ALMS). The main symptoms of ALMS affect multiple organs and tissues, generating at last, multi-organic fibrosis in the lungs, kidneys and liver.
Brais Bea-Mascato +7 more
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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 ...
Aoife M. Waters, Philip L. Beales
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Ciliopathies: Genetics in Pediatric Medicine [PDF]
Journal of Pediatric Genetics, 2016 Ciliary disorders, which are also referred to as ciliopathies, are a group of hereditary disorders that result from dysfunctional cilia. The latter are cellular organelles that stick up from the apical plasma membrane. Cilia have important roles in signal transduction and facilitate communications between cells and their surroundings.
Machteld M. Oud +3 more
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Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies [PDF]
, 2016 The photoreceptor cells in the retina have a highly specialised sensory cilium, the outer segment (OS), which is important for detecting light. Mutations in cilia-related genes often result in retinal degeneration.
Cheetham, ME +6 more
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Alström syndrome: current perspectives
The Application of Clinical Genetics, 2015 María Álvarez-Satta, Sheila Castro-Sánchez, Diana Valverde Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain Abstract: Alström syndrome (ALMS)
Álvarez-Satta M +2 more
doaj
dUTPase based switch controls transfer of virulence genes in order to preserve integrity of the transferred mobile genetic elements [PDF]
, 2013 dUTPases ubiquitously regulate cellular dUTP levels to preserve genome integrity. Recently, several other cellular processes were reported to be controlled by dUTPases including the horizontal transfer of Staphylococcus aureus pathogenicity islands ...
Bendes, A. +12 more
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European Journal of Pediatrics, 2011 Cilia are antenna-like organelles found on the surface of most cells. They transduce molecular signals and facilitate interactions between cells and their environment. Ciliary dysfunction has been shown to underlie a broad range of overlapping, clinically and genetically heterogeneous phenotypes, collectively termed ciliopathies.
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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
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A role for Gle1, a regulator of DEAD-box RNA helicases, at centrosomes and basal bodies. [PDF]
, 2017 Control of organellar assembly and function is critical to eukaryotic homeostasis and survival. Gle1 is a highly conserved regulator of RNA-dependent DEAD-box ATPase proteins, with critical roles in both mRNA export and translation.
Akef, Abdalla +2 more
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