Results 81 to 90 of about 11,428 (200)
Manifestations of Bardet-Biedl syndrome
Philippine Journal of Ophthalmology, 2004 Objective: To report the first documented case of Bardet-Biedl syndrome at the University of the Philippines Philippine General Hospital. Methods: This is a case report. Results: A 7-year-old boy was diagnosed to have Bardet-Biedl syndrome based on
Kristine T. Lo, MD +2 more
doaj
Clinical Case Reports, 2020 This article reports a girl with Bardet‐Biedl syndrome (BBS) having a novel causative mutation who developed Legg‐Calvé‐Perthes disease (LCPD). There exists a possibility that the prognosis of LCPD had been adversely affected by the concomitant BBS.
Kenichi Mishima +9 more
doaj +1 more source
Hydrometrocolpos and postaxial polydactyly in a girl newborn: A case report
Clinical Case Reports, 2022 This case report is of a 35‐week female neonate with a cystic abdominal mass. Physical examination was notable for post‐axial polydactyly, distended abdomen, and abnormal urethral opening.
Morgan L. Day +2 more
doaj +1 more source
Interleukin-1β sequesters hypoxia inducible factor 2α to the primary cilium. [PDF]
, 2013 BACKGROUND: The primary cilium coordinates signalling in development, health and disease. Previously we have shown that the cilium is essential for the anabolic response to loading and the inflammatory response to interleukin-1β (IL-1β).
AC Lin +60 more
core +1 more source
Obesity, Volume 34, Issue 4, Page 851-870, April 2026.Guidance recommendations by TOS/OMA/OAC for the use of obesity medications to treat obesity and its complications. ABSTRACT Background Obesity affects over 40% of US adults, with severe obesity on the rise. Despite recognition of obesity as a chronic disease, it remains underdiagnosed and undertreated.
Lydia Alexander +12 more
wiley +1 more source
Acta Médica Portuguesa, 2002 Bardet-Biedl syndrome is a rare disease characterized by pigmentary retinopathy, dysmorphic extremities, obesity, renal abnormalities and hypogonadism only in men.
Luís Siopa +3 more
doaj +1 more source
Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease [PDF]
, 2017 The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein related to the Sonic hedgehog receptor, Patched, and involved in intracellular trafficking of ...
Canterini, Sonia +7 more
core +1 more source
Clinical Case Reports, Volume 14, Issue 3, March 2026.ABSTRACT Kartagener's Syndrome (KS), a rare autosomal recessive disorder and a subset of Primary Ciliary Dyskinesia (PCD), is characterized by chronic sinusitis, bronchiectasis, and, in approximately 50% of cases, situs inversus. This condition arises from genetic mutations that impair motile cilia function, leading to defective mucociliary clearance ...
Ibrahim Khalil +3 more
wiley +1 more source
Prenatal Diagnosis of Renal Anomalies Associated With a Novel Causative Variant in RAP1B Gene
Clinical Case Reports, Volume 14, Issue 3, March 2026.A case of prenatal renal cystic disease and unilateral renal agenesis is reported. Molecular investigations including TRIO next‐generation sequencing analysis using the Clinical exome sequencing protocol identified the c.179G>T, p.(Gly60Val) “de novo” variant in a heterozygous state in the RAP1B gene.
Adalgisa Cordisco +5 more
wiley +1 more source
RPGR protein complex regulates proteasome activity and mediates store-operated calcium entry [PDF]
, 2018 Ciliopathies are a group of genetically heterogeneous disorders, characterized by defects in cilia genesis or maintenance. Mutations in the RPGR gene and its interacting partners, RPGRIP1 and RPGRIP1L, cause ciliopathies, but the function of their ...
Aguirre +68 more
core +3 more sources