Results 71 to 80 of about 2,469,352 (177)
The FASEB Journal, Volume 40, Issue 14, 31 July 2026.The identification of a patient carrying a novel homozygous p.(Gln206Ter) POC5 variant revealed a metabolic phenotype associated with POC5 deficiency. POC5 deficiency disrupts centriolar architecture and ciliary organization, leading to impaired proliferation, premature cellular senescence, and reduced insulin signaling.
Valeria Pistorio +10 more
wiley +1 more source
Molecular Ecology, Volume 35, Issue 13, July 2026.ABSTRACT Despite technological advances in both tracking and sequencing technologies, finding the genetic mechanisms behind migratory traits remains a challenge. Recent studies have shown that migratory direction in European willow warblers (Phylloscopus trochilus) is mainly influenced by a repeat‐rich region named MARB.
Violeta Caballero‐Lopez +10 more
wiley +1 more source
Primary Cilia in Pancreatic β- and α-Cells: Time to Revisit the Role of Insulin-Degrading Enzyme
Frontiers in Endocrinology, 2022 The primary cilium is a narrow organelle located at the surface of the cell in contact with the extracellular environment. Once underappreciated, now is thought to efficiently sense external environmental cues and mediate cell-to-cell communication ...
Marta Pablos +7 more
doaj +1 more source
Prenatal Diagnosis, Volume 46, Issue 5-6, Page 737-745, May 2026.ABSTRACT Objective To develop and evaluate an animation for parents about prenatal sequencing. Methods A total of 428 participants who had been pregnant, or whose partner had been pregnant, in the past 24 months. Parents, patient organisation representatives and clinicians co‐designed the animation describing prenatal sequencing (pS). Participants were
Morgan Daniel +12 more
wiley +1 more source
Journal of Cellular and Molecular Medicine, Volume 30, Issue 8, April 2026.ABSTRACT Atherosclerosis is a major cause of mortality due to chronic and progressive low‐grade inflammation and fibroproliferative remodelling of the intima of arteries. Comprehensive understanding of the interplay between plaque biology and the mechanisms underlying plaque vulnerability and rupture is essential.
Alaa G. Alahmadi +6 more
wiley +1 more source
Early diagnosis of Bardet-Biedl syndrome associated with obesity
Ожирение и метаболизм, 2008 One of the urgent problems of modern health care is the increase in the prevalence of obesity among children and adolescents. Late diagnosis and delayed initiation of treatment lead to serious complications such as hypertension, type 2 diabetes mellitus.
doaj +1 more source
Obesity, Volume 34, Issue 3, Page 579-587, March 2026.ABSTRACT Objective This analysis aimed to assess the efficacy of setmelanotide over 52 weeks in patients with Bardet‐Biedl syndrome (BBS) compared with an external natural history cohort from the international Clinical Registry Investigating BBS (CRIBBS).
Jesús Argente +15 more
wiley +1 more source
Brain involvement in Alström syndrome
Orphanet Journal of Rare Diseases, 2013 Background Alström Syndrome (AS) is a rare ciliopathy characterized by cone–rod retinal dystrophy, sensorineural hearing loss, obesity, type 2 diabetes mellitus and cardiomyopathy.
Citton Valentina +9 more
doaj +1 more source
The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway. [PDF]
PLoS ONE, 2012 Alström syndrome (ALMS) is a progressive multi-systemic disorder characterized by cone-rod dystrophy, sensorineural hearing loss, childhood obesity, insulin resistance and cardiac, renal, and hepatic dysfunction. The gene responsible for Alström syndrome,
Gayle B Collin +6 more
doaj +1 more source
bioRxiv, 2023 Background Alström Syndrome (AS), a multisystem disorder caused by biallelic ALMS1 mutations, features major cardiac complications often causing early mortality.
Eleanor J. McKay +6 more
semanticscholar +1 more source