Results 71 to 80 of about 7,870 (178)
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
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Clinical Case Reports, Volume 14, Issue 7, July 2026.Serial sagittal T1‐weighted MR images demonstrating persistent thinning of the corpus callosum. (A) Initial MRI at 19 months of age shows diffuse thinning of the corpus callosum involving the body and splenium. (B) Follow‐up MRI one year later demonstrates stable appearance without interval progression, consistent with corpus callosal hypoplasia ...
Anwar Abu Hetta +4 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.We report pseudo‐dominant PCD inheritance in a Chinese family due to novel DNAAF1 mutations. Affected members across two generations showed significant variability in lung disease progression and visceral arrangement. ABSTRACT Background Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder typically inherited in an autosomal ...
Zhuoyao Guo +3 more
wiley +1 more source
Post‐Translational Modifications in Cilia and Ciliopathies
Advanced ScienceCilia are microtubule‐based organelles that extend from the surface of most vertebrate cells, and they play important roles in diverse cellular processes during embryonic development and tissue homeostasis.
Jie Ran, Jun Zhou
doaj +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
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Ciliopathy in PCS (MVA) syndrome
Oncotarget, 2015 The spindle assembly checkpoint (SAC) is a surveillance mechanism of faithful chromosome segregation during mitosis. Budding uninhibited by benzimidazole-related-1 (BubR1) plays a central role in the SAC through inhibition of anaphase promoting complex/cyclosome (APC/C) activity until all chromosomes have established proper attachment to the mitotic ...
Tatsuo, Miyamoto, Shinya, Matsuura
openaire +2 more sources
Frontiers in Pediatrics, 2017 Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10,000 to 1:20,000 live-born children, but true prevalence could be even ...
Virginia Mirra +4 more
doaj +1 more source
Ophthalmıc fındıngs ın Joubert syndrome 25: A case report
Indian Journal of Ophthalmology. Case ReportsJoubert syndrome (JBTS; OMIM PS213300) is a rare autosomal recessive disease classified as a ciliopathy. The diagnosis of JBTS is based on three criteria: a characteristic brain imaging finding known as the “molar tooth sign,” hypotonia, and ...
Tulin Aras Ogreden, Mehmet Büyüktiyaki
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Frontiers in Genetics, 2019 Bardet-Biedl syndrome (BBS; MIM 209900) is a rare ciliopathy characterized by retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, cognitive impairment and kidney dysfunction.
Elise Schaefer +12 more
doaj +1 more source