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Molecular genetics of renal ciliopathies.
Biochemical Society Transactions, 2021 Renal ciliopathies are a heterogenous group of inherited disorders leading to an array of phenotypes that include cystic kidney disease and renal interstitial fibrosis leading to progressive chronic kidney disease and end-stage kidney disease.
Miguel Barroso-Gil, E. Olinger, J. Sayer
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Transport and barrier mechanisms that regulate ciliary compartmentalization and ciliopathies
Nature Reviews Nephrology, 2023Laura Louzao-Martinez +2 more
exaly +2 more sources
Deciphering cilia and ciliopathies using proteomic approaches
The FEBS Journal, 2022Cilia are microtubule‐based organelles that protrude from the cell surface and play crucial roles in cellular signaling pathways and extracellular fluid movement.
Xiying Chen +4 more
semanticscholar +1 more source
The nonmotile ciliopathies [PDF]
Genetics in Medicine, 2009 Over the last 5 years, disorders of nonmotile cilia have come of age and their study has contributed immeasurably to our understanding of cell biology and human genetics. This review summarizes the main features of the ciliopathies, their underlying genetics, and the functions of the proteins involved. We describe some of the key findings in the field,
Jonathan L. Tobin, Philip L. Beales
exaly +4 more sources
Ophthalmic Genetics, 2007
While the functions of many of the proteins located in or associated with the photoreceptor cilia are poorly understood, disruption of the function of these proteins may result in a wide variety of phenotypes ranging from isolated retinal degeneration to more pleiotropic phenotypes.
N. A. Adams +2 more
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While the functions of many of the proteins located in or associated with the photoreceptor cilia are poorly understood, disruption of the function of these proteins may result in a wide variety of phenotypes ranging from isolated retinal degeneration to more pleiotropic phenotypes.
N. A. Adams +2 more
openaire +3 more sources
Patient-derived cellular models of primary ciliopathies
Journal of Medical Genetics, 2022Primary ciliopathies are rare inherited disorders caused by structural or functional defects in the primary cilium, a subcellular organelle present on the surface of most cells.
Lidia Pollara, V. Sottile, E. Valente
semanticscholar +1 more source
Current Opinion in Genetics & Development, 2019
Renal ciliopathies are a group of disorders characterised by nephronophthisis, cystic kidneys or renal cystic dysplasia whose underlying disease pathogenesis is related to abnormal structure or function of the primary cilia complex. The number of renal ciliopathies continues to expand as genomic and genetic approaches identify novel causes.
Laura A, Devlin, John A, Sayer
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Renal ciliopathies are a group of disorders characterised by nephronophthisis, cystic kidneys or renal cystic dysplasia whose underlying disease pathogenesis is related to abnormal structure or function of the primary cilia complex. The number of renal ciliopathies continues to expand as genomic and genetic approaches identify novel causes.
Laura A, Devlin, John A, Sayer
openaire +2 more sources
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
exaly +4 more sources
2018
Alström syndrome is an autosomal recessive disease with multisystem involvement, including cone-rod dystrophy, hearing loss, type 2 diabetes, insulin resistance with hyperinsulinemia, dilated cardiomyopathy, and progressive hepatic and renal failure. Patients present in childhood with photophobia and nystagmus, and mimic Leber congenital amaurosis (LCA)
Tarun Sharma +3 more
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Alström syndrome is an autosomal recessive disease with multisystem involvement, including cone-rod dystrophy, hearing loss, type 2 diabetes, insulin resistance with hyperinsulinemia, dilated cardiomyopathy, and progressive hepatic and renal failure. Patients present in childhood with photophobia and nystagmus, and mimic Leber congenital amaurosis (LCA)
Tarun Sharma +3 more
openaire +3 more sources