Results 221 to 230 of about 11,057 (243)

Ciliopathy: Usher Syndrome

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, Stephen H. Tsang, Stephen H. Tsang, Tarun Sharma   +3 more
openaire   +3 more sources

Liver involvement in children with ciliopathies

Clinics and Research in Hepatology and Gastroenterology, 2014
Abnormalities in primary cilia lead to diseases called ciliopathies. Multiple organ involvement is the norm since primary cilia are present in most cells. When cholangiocyte cilia are abnormal, ductal plate malformation ensues leading to such conditions as congenital hepatic fibrosis, Caroli disease or syndrome, or other fibrocystic disease.
Rock, Nathalie, Mclin, Valérie Anne
openaire   +3 more sources

Proteomics and metabolomics studies exploring the pathophysiology of renal dysfunction in autosomal dominant polycystic kidney disease and other ciliopathies.

Nephrology, Dialysis and Transplantation, 2020
The primary cilium (PC) was considered as a vestigial organelle with no significant physiological importance, until the discovery that PC perturbation disturbs several signalling pathways and results in the dysfunction of a variety of organs.
M. Zacchia, E. Marchese, Elena Martina Trani, M. Caterino, G. Capolongo, A. Perna, M. Ruoppolo, G. Capasso   +7 more
semanticscholar   +1 more source

Renal ciliopathies

Primary cilia are essential cellular organelles with pivotal roles in many signalling pathways. Here we provide an overview of the role of primary cilia within the kidney, starting with primary ciliary structure and key protein complexes. We then highlight the specialised functions of primary cilia, emphasising their role in a group of diseases known ...
Laura A, Devlin, Rebecca M, Dewhurst, Praveen D, Sudhindar, John A, Sayer   +3 more
openaire   +2 more sources

Ciliopathies

Pathology of Genetically Engineered and Other Mutant Mice, 2021
P. Vogel, L. Janke
semanticscholar   +1 more source

Primary ciliary dyskinesia. Ciliopathies

Acta Otorrinolaringologica (English Edition), 2010
Primary ciliary dyskinesia is a genetically inherited syndrome characterized by cilia immotility or dysmotility. Deficiency in mucociliary clearance produces chronic respiratory infections since birth, male sterility by spermatozoid immotility and situs inversus in 40-50% of patients (Kartagener's syndrome).
Miguel Armengot Carceller, Manuel Mata Roig, Xavier Milara Payá, Julio Cortijo Gimeno   +3 more
openaire   +3 more sources

Renal Pathology of Ciliopathies

Pediatric and Developmental Pathology
Renal ciliopathies are a group of genetic disorders that affect the function of the primary cilium in the kidney, as well as other organs. Since primary cilia are important for regulation of cell signaling pathways, ciliary dysfunction results in a range of clinical manifestations, including renal failure, cyst formation, and hypertension.
Thivya, Sekar, Neil J, Sebire
openaire   +2 more sources

Ciliopathy: Senior-Løken Syndrome

2018
Senior-Løken syndrome is a rare autosomal recessive disease with a prevalence of 1:1,000,000. Retinopathy may progress as Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), or sector RP (Figs. 34.1 and 34.2). Onset of photophobia, nystagmus, and hyperopia can occur in the first few years of life or later in childhood.
Stephen H. Tsang, Stephen H. Tsang, Alicia R. P. Aycinena, Tarun Sharma   +3 more
openaire   +3 more sources

Ciliopathy: Sjögren-Larsson Syndrome

2018
Glistening yellow-white crystalline inclusions in foveal and parafoveal areas are almost pathognomonic (Fig. 36.1). These inclusions are evident at 1-2 years old and increase with age. Patients may have corneal stromal opacities, punctate keratitis, myopia, and astigmatism.
Alicia R. P. Aycinena, Stephen H. Tsang, Stephen H. Tsang, Tarun Sharma   +3 more
openaire   +2 more sources

Proteome balance in ciliopathies: the OFD1 protein example.

Trends in Molecular Medicine, 2022
M. Morleo, Nunziana Pezzella, B. Franco
semanticscholar   +1 more source