Results 31 to 40 of about 11,932 (230)
Orphanet Journal of Rare Diseases, 2019 Background To evaluate and compare the progression of ciliopathy and non-ciliopathy autosomal recessive Retinitis Pigmentosa patients (arRP) by measuring the constriction of hyperautofluorescent rings in fundus autofluorescence (FAF) images and the ...
Vitor K. L. Takahashi +6 more
doaj +1 more source
Diagnostics, 2021 Primary ciliary dyskinesia (PCD) is a rare genetic disease characterized by dyskinetic cilia. Respiratory symptoms usually start at birth. The lack of diagnostic gold standard tests is challenging, as PCD diagnostics requires different methods with high ...
Loretta Müller +17 more
doaj +1 more source
Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish [PDF]
, 2017 The authors would like to thank the Royal Society of London, the National Eye Research Centre, the Visual Research Trust, Fight for Sight, the W.H. Ross Foundation, the Rosetrees Trust, and the Glasgow Children’s Hospital Charity for supporting this work.
A Eblimit +54 more
core +4 more sources
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
openaire +2 more sources
Bardet–Biedl syndrome with choledochal cyst: Rare association with a novel variant
Journal of Indian Association of Pediatric Surgeons, 2023 Bardet–Biedl syndrome is an autosomal-recessive ciliopathic disorder affecting multiple organ systems. Characteristic features include progressive retinal dystrophy, obesity, polydactyly hypogonadism, mental retardation, and renal disorders.
Saket Kumar +4 more
doaj +1 more source
Subcellular localization of MC4R with ADCY3 at neuronal primary cilia underlies a common pathway for genetic predisposition to obesity. [PDF]
, 2018 Most monogenic cases of obesity in humans have been linked to mutations in genes encoding members of the leptin-melanocortin pathway. Specifically, mutations in MC4R, the melanocortin-4 receptor gene, account for 3-5% of all severe obesity cases in ...
A Hinney +38 more
core +1 more source
Ciliopathies in pediatric endocrinology
Annals of Pediatric Endocrinology & Metabolism, 2023 Ciliopathies are a group of disorders that involve many organs and systems. In this review, we consider the role of the cilium in multiorgan pathology with a focus on endocrinological aspects. Identification of new genes and mutations is the major challenge in development of a tailored and appropriate therapy.
Ilenia Cicolini +2 more
openaire +3 more sources
Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes
Scientific Reports, 2022 We searched a database of single-gene knockout (KO) mice produced by the International Mouse Phenotyping Consortium (IMPC) to identify candidate ciliopathy genes.
Kendall Higgins +35 more
doaj +1 more source
Childhood Kidney Diseases, 2015 NPHP is the most common monogenic cause of CKD in children or adolescents. Extra-renal symptoms often accompany, therefore examination of retina, hearing, and skeleton is necessary in patients with CKD with insidious onset.
Hee Gyung Kang, Hae Il Cheong
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Frontiers in Molecular Biosciences, 2023 Background: Primary ciliary dyskinesia (PCD; MIM 242650) is a rare genetic disorder characterized by malfunction of the motile cilia resulting in reduced mucociliary clearance of the airways.
Andre Schramm +5 more
doaj +1 more source