Results 111 to 120 of about 12,422 (262)
Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing
Molecular Genetics &Genomic Medicine, Volume 13, Issue 9, September 2025.Our study identified mutations in genes in families associated with different eye disorders. We also explored the effect of a novel variant identified in the ALMS1 gene by using patient‐specific cells. Finally, previously published data was compiled to establish the genotype–phenotype relation.
Afeefa Jarral +5 more
wiley +1 more source
Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors [PDF]
, 2017 Ciliopathies are human disorders caused by dysfunction of primary cilia, ubiquitous organelles involved in transduction of environmental signals such as light sensation in photoreceptors.
Bachmann-Gagescu, Ruxandra +7 more
core +1 more source
Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management
Indian Journal of Ophthalmology, 2016 Primary cilia play a key role in sensory perception and various signaling pathways. Any defect in them leads to group of disorders called ciliopathies, and Bardet–Biedl syndrome (BBS, OMIM 209900) is one among them.
Sathya Priya +3 more
doaj +1 more source
Prenatal Diagnosis, Volume 45, Issue 10, Page 1351-1358, September 2025.ABSTRACT This manuscript summarises the debate held at the 2024 annual meeting of The International Society for Prenatal Diagnosis (ISPD). Experts discussed whether all fetuses undergoing fetal therapy should undergo exome sequencing. Arguments in favor included that, with increasing experience and better clinical availability, exome sequencing can ...
Teresa N. Sparks +2 more
wiley +1 more source
Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks [PDF]
, 2016 This is the final version of the article. Available from the publisher via the DOI in this record.BACKGROUND: Cilia are critical for diverse functions, from motility to signal transduction, and ciliary dysfunction causes inherited diseases termed ...
Barker, AR +3 more
core +1 more source
Functional modelling of a novel mutation in BBS5. [PDF]
, 2014 BACKGROUND: Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy disorder with 18 known causative genes (BBS1-18). The primary clinical features are renal abnormalities, rod-cone dystrophy, post-axial polydactyly, learning difficulties ...
Al-Fadhly, F. +9 more
core +2 more sources
Syndromic ciliopathy: a taiwanese single-center study
BMC Medical GenomicsBackground Syndromic ciliopathies are a group of congenital disorders characterized by broad clinical and genetic overlap, including obesity, visual problems, skeletal anomalies, mental retardation, and renal diseases. The hallmark of the pathophysiology
Yu-Wen Pan +10 more
doaj +1 more source
Translational Retinal Research and Therapies. [PDF]
, 2018 The following review summarizes the state of the art in representative aspects of gene therapy/translational medicine and evolves from a symposium held at the School of Veterinary Medicine, University of Pennsylvania on November 16, 2017 honoring Dr ...
Aguirre, Gustavo D +7 more
core +1 more source
eLife, 2017 The proper development of the vocal cords requires embryos to contain a certain number of progenitor cells, and mutations that lead to an overflow of cells can cause malformations of the voice box.
Ralph Marcucio
doaj +1 more source