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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
openaire +3 more sources
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
Xenopus to the rescue: A model to validate and characterize candidate ciliopathy genes
Genesis, 2021Cilia are present on most vertebrate cells and play a central role in development, growth, and homeostasis. Thus, cilia dysfunction can manifest into an array of diseases, collectively termed ciliopathies, affecting millions of lives worldwide.
V. G. Rao, S. Kulkarni
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
openaire +2 more sources
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
2018
Ciliopathies are a group of disorders caused by a defect in ciliogenesis, ciliary protein trafficking. Because nearly every cell in the body (including the photoreceptors) contains cilia, defects in ciliary proteins typically affect multiple organ systems.
Alicia R. P. Aycinena +3 more
openaire +3 more sources
Ciliopathies are a group of disorders caused by a defect in ciliogenesis, ciliary protein trafficking. Because nearly every cell in the body (including the photoreceptors) contains cilia, defects in ciliary proteins typically affect multiple organ systems.
Alicia R. P. Aycinena +3 more
openaire +3 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
openaire +3 more sources
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
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy
Journal of Medical Genetics, 2020Background Nephronophthisis-related ciliopathies (NPHP-RC) account for the majority of cases of monogenetically caused end-stage renal disease (ESRD) in children.
Xiaoshan Tang +26 more
semanticscholar +1 more source
Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy
Clinical Genetics, 2020Ciliopathies are a heterogeneous group of disorders, related to abnormal ciliary function. Severe biliary ciliopathy, caused by bi‐allelic mutations in TTC26, has been recently described in the context of a syndrome of polydactyly and severe neonatal ...
Odeya David +10 more
semanticscholar +1 more source