Ciliary Defects in Inherited Retinal Diseases
Advanced Genetics, Volume 7, Issue 1, March 2026.The photoreceptor cilium is a specialized sensory organelle essential for vision. This review systematically summarizes the structural and functional defects of the cilium that lead to inherited retinal diseases (IRDs). It highlights key pathogenic genes, elucidates molecular mechanisms of degeneration, and evaluates emerging therapeutic strategies ...
Guizhi Guo, Lin Li, Jun Zhou, Jie Ran
wiley +1 more source
Partial Atrioventricular Septal Defect in a Case of Bardet-Biedl Syndrome: A Rare Association
Acta Medica IranicaBardet-Biedl syndrome (BBS) (MIM 209900) is a genetic disorder with a wide spectrum of clinical manifestations including retinal dystrophy, hypogenitalism, polydactyly, obesity, renal abnormalities and mental retardation. We describe a 13-year-old girl,
Mohaddeseh Behjati +2 more
doaj +1 more source
Visual acuity and retinal function in patients with Bardet-Biedl syndrome
Clinics, 2012 OBJECTIVE: Bardet-Biedl syndrome is a genetic, multisystem disorder that causes severe visual impairment. This condition is characterized by retinal dystrophy, obesity, digit anomalies, renal disease, and hypogonadism.
Adriana Berezovsky +5 more
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A rare case of Bardet–Biedl syndrome
Taiwan Journal of Ophthalmology, 2020 We report here a rare case of Bardet–Biedl syndrome (BBS). A 7-year-old boy was diagnosed to have BBS based on the clinical features: retinitis pigmentosa sine pigmento, obesity, postaxial polydactyly, syndactyly, and hypogenitalism.
Shrinkhal +5 more
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Diabetic ketoacidosis associated with tacrolimus in solid organ transplant recipients [PDF]
, 2011 Diabetic ketoacidosis in patients receiving tacrolimus in the post-transplant setting is rare. We describe two such cases in solid-organ transplant recipients.
Habib, Manal +4 more
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Development and disease of the photoreceptor cilium [PDF]
, 2009 Primary cilia are microtubule-rich hair-like extensions protruding from the surface of most post-mitotic cells. They act as sensory organelles that help interpret various environmental cues.
Adams +48 more
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Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes
Clinical Genetics, Volume 109, Issue 3, Page 424-436, March 2026.In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari +7 more
wiley +1 more source
Motile cilia defects in diseases other than primary ciliary dyskinesia:The contemporary diagnostic and research role for transmission electron microscopy [PDF]
, 2017 Ultrastructural studies have underpinned the cell biological and clinical investigations of the varied roles of motile cilia in health and disease, with a long history since the 1950s.
Afzelius BA +6 more
core +3 more sources
Genetic architecture of body size in mammals [PDF]
, 2012 Much of the heritability for human stature is caused by mutations of small-to-medium effect.
Goddard, Michael E. +2 more
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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