Combatting renal ciliopathies [PDF]
Cilia, 2012 A hallmark of many ciliopathies are renal cysts, ultimately disrupting kidney architecture and resulting in end-stage renal disease as the most common cause of mortality. Yet despite being the largest demand for renal replacement therapy (ie. dialysis, kidney transplantation) in young patients, the exact etiology of nephronophthisis (NPHP) and ...
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Evolutionary Signatures amongst Disease Genes Permit Novel Methods for Gene Prioritization and Construction of Informative Gene-Based Networks [PDF]
, 2015 Genes involved in the same function tend to have similar evolutionary histories, in that their rates of evolution covary over time. This coevolutionary signature, termed Evolutionary Rate Covariation (ERC), is calculated using only gene sequences from a ...
Clark, NL, Priedigkeit, N, Wolfe, N
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Frontiers in Genetics, 2019 The motile cilium/flagellum is an ancient eukaryotic organelle. The molecular machinery of ciliary motility comprises a variety of cilium-specific dynein motor complexes along with other complexes that regulate their activity.
P. zur Lage, Fay G. Newton, A. Jarman
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Cancer as a Ciliopathy: The Primary Cilium as a New Therapeutic Target [PDF]
, 2015 Javier S. Castresana
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Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis [PDF]
, 2014 Shobi Veleri +13 more
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Repurposing small molecules for Nephronophthisis and related renal ciliopathies.
Kidney International, 2023 A. Benmerah +3 more
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Cranioectodermal dysplasia: A probable ciliopathy
American Journal of Medical Genetics Part A, 2009 AbstractCranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive genetic disorder characterized by typical craniofacial, skeletal and ectodermal defects, and tubulointerstitial nephritis leading to early end‐stage renal failure.
Konstantinidou, A.E. +8 more
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Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network [PDF]
, 2017 Defects in FAM161A, a protein of unknown function localized at the cilium of retinal photoreceptor cells, cause retinitis pigmentosa, a form of hereditary blindness.
Arsenijevic, Yvan +6 more
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Retinal disease in ciliopathies: Recent advances with a focus on stem cell-based therapies
Translational Science of Rare Diseases, 2019 Ciliopathies display extensive genetic and clinical heterogeneity, varying in severity, age of onset, disease progression and organ systems affected.
H. Chen +3 more
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