Results 51 to 60 of about 1,912 (196)

Caloric Restriction in Alstrom Syndrome Prevents Hyperinsulinemia [PDF]

, 2011
Alstrom syndrome (AS; OMIM 203800) is an autosomal recessive disorder characterized by cone-rod dystrophy, dilated cardiomyopathy, sensorineural hearing impairment, developmental delay, and most case had both childhood -onset obesity and hyperinsulinemia.
LEE, NI-CHUNG;CHIEN, YIN-HSIU;TSAI, WEN-YU;HWU, WUH-LIANG, 李妮鍾;簡穎秀;蔡文友;胡務亮   +1 more
core  

Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families

Frontiers in Pediatrics, 2021
Background: Alström syndrome (AS) is a very rare childhood disorder characterized by cardiomyopathy, progressive hearing loss and blindness. Inherited genetic variants of ALMS1 gene are the known molecular cause of this disease.
Omar I. Saadah, Omar I. Saadah, Babajan Banaganapalli, Babajan Banaganapalli, Naglaa M. Kamal, Naglaa M. Kamal, Ahmed N. Sahly, Ahmed N. Sahly, Hadeel A. Alsufyani, Arif Mohammed, Aftab Ahmad, Khalidah Khalid Nasser, Khalidah Khalid Nasser, Jumana Y. Al-Aama, Jumana Y. Al-Aama, Noor Ahmad Shaik, Noor Ahmad Shaik, Ramu Elango, Ramu Elango   +18 more
doaj   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Alstrom syndrome. [PDF]

, 2007
Alstrom Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2p13), a novel gene of currently unknown molecular function.
Maffei, P, Naggert, J K, Marshall, J D, Beck, S   +3 more
core  

Combined Occurrence of Alstrom Syndrome and Bronchiectasis [PDF]

, 2014
Alstrom syndrome (Online Mendelian Inheritance in Man ALMS #203800) is a rare hereditary disorder caused by mutations in the gene ALMS1. This rare disorder's characteristics are cone-rod dystrophy resulting in blindness in childhood, insulin-resistant ...
Kaya, Avni, Cayir, Atilla, OZANTÜRK, AYŞEGÜL, Bingel, Fatih, Tasdemir, Sener, Çayır, Atilla, DÖNERAY, Hakan, ORBAK, Zerrin   +7 more
core   +1 more source

Liver Fibrosis and Steatosis in Alstrom Syndrome: A Genetic Model for Metabolic Syndrome [PDF]

, 2021
Alstrom syndrome (ALMS) is an ultra-rare monogenic disease characterized by insulin resistance, multi-organ fibrosis, obesity, type 2 diabetes mellitus (T2DM), and hypertriglyceridemia with high and early incidence of non-alcoholic fatty liver disease ...
Bombonato, G, Giancarlo Bombonato, Francesca Dassie, Vettor, R, Dassie, F, Angeli, P, Pietro Maffei, Paolo Angeli, Francesca Favaretto, Roberto Vettor, Piffer, L, Favaretto, F, Silvia Bettini, Bizzotto, P, Gabriella Milan, Bettini, S, Milan, G, Liliana Chemello, Carlo Merkel, Marco Senzolo, Senzolo, M, Luca Busetto, Busetto, L, Maffei, P, Chemello, L, Paola Bizzotto, Merkel, C, Luca Piffer   +27 more
core   +1 more source

A Rare Syndromic Report of a Young Patient with Type 2 Diabetes Mellitus: Alstrom Syndrome

Case Reports in Clinical Practice
Alström syndrome is a rare multi-system congenital disorder with varied phenotypic presentations, including obesity, early-onset blindness, hearing loss, and various cardiac and renal manifestations.
Apoorva Suran, Jaideep Khare
doaj   +1 more source

Can an Animation Improve Parents' Knowledge and How Does It Compare to Written Information? Development and Survey Evaluation of an Animation for Parents About Prenatal Sequencing

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, Hannah McInnes‐Dean, Wing Han Wu, Jane Fisher, Caroline Lafarge, Kerry Leeson‐Beevers, Celine Lewis, Sophie Peet, Dagmar Tapon, Sarah L. Wynn, Lyn S. Chitty, Melissa Hill, Michelle Peter   +12 more
wiley   +1 more source

Dysregulated Sheddase Signalling as a Molecular Driver of Plaque Instability Revealed by Integrative Transcriptomics

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, Hind A. Alkhatabi, Reem M. Alotibi, Wedad M. Albeshri, Mohammed El‐Mezgueldi, Ammar AL‐Farga, Peter Natesan Pushparaj   +6 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, Elena Casanueva-Álvarez, Carlos M. González-Casimiro, Beatriz Merino, Germán Perdomo, Irene Cózar-Castellano, Irene Cózar-Castellano, Irene Cózar-Castellano   +7 more
doaj   +1 more source