Results 51 to 60 of about 1,144,628 (153)
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
Alström syndrome: genetics and clinical overview.
, 2011 Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood ...
Naggert, Jürgen K +3 more
core +1 more source
Alstrom syndrome: A rare genetic disorder and its anaesthetic significance
Indian Journal of Anaesthesia, 2010 Alstrom syndrome is a rare autosomal recessive disorder that was first described in 1959, by Carl Henry Alstrom, characterised by multiorgan system involvement ranging from ocular, aural, endocrinal, hepatorenal, gastrointestinal, respiratory and cardiac
Akhilesh Tiwari +3 more
doaj +1 more source
Harvested Forages for Horses From a Feeding Perspective—A Systematic Literature Review
Grass and Forage Science, Volume 81, Issue 3, July-September 2026.ABSTRACT Due to the important role of forages in equine diets, the aim of this project was to perform a systematic literature review of the area with relevance for Northern Europe. The objectives were to identify the currently available published peer‐reviewed literature on forages for horses from an equine feeding perspective and to summarize it to ...
Sara Ringmark +3 more
wiley +1 more source
, 2022 Alström syndrome is a rare, multisystemic genetic disorder, and dilated cardiomyopathy occurs in approximately two-thirds of patients with this condition.
신유림, 오재원, 정조원
core +1 more source
Stem Cell ResearchWe report on the generation of the human iPSC line (ALMS1-STBG-1) from a patient with Alström syndrome with compound heterozygote pathogenic variants in ALMS1: c.[2822T>A];[4714_4715dup], p.[(Leu941*)];[(Ser1573Thrfs*25)].
Samira Secula +7 more
doaj +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
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
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