Results 81 to 90 of about 2,469,352 (177)

Alms1 KO Rat: A New Model of Cardiometabolic Syndrome With Spontaneous Hypertension

Acta Physiologica, Volume 242, Issue 3, March 2026.
ABSTRACT Alström syndrome 1 (ALMS1) is a protein linked to Alström syndrome, a rare genetic disorder characterized by obesity, insulin resistance, hyperinsulinemia, and hypertension. Genetic studies have further associated Alms1 with hypertension in human populations. However, the precise mechanisms by which ALMS1 regulates metabolic and cardiovascular
Ankita B. Jaykumar, Sumit R. Monu, Jiang Xu, Mariela Mendez, Xiao‐Ping Yang, Nour‐Eddine Rhaleb, Pablo A. Ortiz   +6 more
wiley   +1 more source

Consensus clinical management guidelines for Alström syndrome

Orphanet Journal of Rare Diseases, 2020
Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13.
Natascia Tahani, Pietro Maffei, Hélène Dollfus, Richard Paisey, Diana Valverde, Gabriella Milan, Joan C. Han, Francesca Favaretto, Shyam C. Madathil, Charlotte Dawson, Matthew J. Armstrong, Adrian T. Warfield, Selma Düzenli, Clair A. Francomano, Meral Gunay-Aygun, Francesca Dassie, Vincent Marion, Marina Valenti, Kerry Leeson-Beevers, Ann Chivers, Richard Steeds, Timothy Barrett, Tarekegn Geberhiwot   +22 more
doaj   +1 more source

How are patients with rare diseases and their carers in the UK impacted by the way care is coordinated? An exploratory qualitative interview study

Orphanet Journal of Rare Diseases, 2021
Background Care coordination is considered important for patients with rare conditions, yet research addressing the impact of care coordination is limited.
Amy Simpson, Lara Bloom, Naomi J. Fulop, Emma Hudson, Kerry Leeson-Beevers, Stephen Morris, Angus I. G. Ramsay, Alastair G. Sutcliffe, Holly Walton, Amy Hunter   +9 more
doaj   +1 more source

Characterisation of infantile cardiomyopathy in Alström syndrome using ALMS1 knockout induced pluripotent stem cell derived cardiomyocyte model.

Molecular Genetics and Metabolism
Alström syndrome (AS) is an inherited rare ciliopathy characterised by multi-organ dysfunction and premature cardiovascular disease. This may manifest as an infantile-onset dilated cardiomyopathy with significant associated mortality.
Leena Patel, A. Roy, Jonathan Barlow, Christopher O’Shea, Daniel Nieves, A. Azad, C. Hall, Ben Davies, Phalguni Rath, Davor Pavlovic, A. Chikermane, T. Geberhiwot, R. Steeds, Katja Gehmlich   +13 more
semanticscholar   +1 more source

Hematopoietic stem cells and metabolic deterioration in Alström syndrome, a rare genetic model of the metabolic syndrome.

Endocrinology, 2023
PURPOSE Alström syndrome (AS) is a rare genetic disease caused by ALMS1 mutations, characterized by short stature, vision and hearing loss. AS patients develop the metabolic syndrome, long-term organ complications, and die prematurely.
F. Dassie, M. Albiero, S. Bettini, R. Cappellari, G. Milan, Stefano Ciciliot, J. Naggert, A. Avogaro, R. Vettor, P. Maffei, G. Fadini   +10 more
semanticscholar   +1 more source

Targeted Next‐Generation Sequencing of the Leptin‐Melanocortin Pathway in Severe Obesity

Obesity, Volume 34, Issue 2, Page 499-511, February 2026.
ABSTRACT Objective Pathogenic variants in five established leptin‐melanocortin pathway genes (LEP, LEPR, MC4R, PCSK1, POMC) are associated with severe early‐onset obesity and are targets for emerging treatments. However, these variants are rare in these patients, suggesting the involvement of additional genes interacting with this pathway. Methods Next‐
Nathan Faccioli, Chrisitne Poitou, Mathieu Georget, Françoise Bertin, Ahlam Azar‐Kolakez, Claire Carette, Pauline Faucher, Blandine Gatta‐Cherifi, Julie Gonneau‐Lejeune, Agnès Linglart, Karine Clément, Johanne Le Beyec‐Le Bihan, Béatrice Dubern   +12 more
wiley   +1 more source

MORFAN syndrome: A rarity but a reality!

Indian Journal of Dermatology, 2019
Acanthosis nigricans (AN) describes clinically hyperpigmented skin, which most commonly affects the flexural areas such as axilla, groin and neck.
Gourab Roy, Sumit Sen, Shreya Poddar
doaj   +1 more source

Epidemiology of acquired hypothalamic obesity following traumatic brain injury and nonspecific hypothalamic microinjury: A nationwide German claims data analysis

Journal of Neuroendocrinology, Volume 38, Issue 1, January 2026.
Abstract Acquired hypothalamic obesity (aHO) is characterized by rapid and persistent weight gain resulting from structural or functional damage to the hypothalamus, typically accompanied by neuroendocrine dysfunction. While aHO is well described in the context of hypothalamic or suprasellar tumors, particularly craniopharyngioma, little is known about
Julian Witte, Nicolas Touchot, Manuel Batram, Jana Diekmannshemke, Mathias Flume, Hermann L. Müller   +5 more
wiley   +1 more source

A very early diagnosis of Alstrӧm syndrome by next generation sequencing

BMC Medical Genetics, 2020
Background Alström syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy, hearing loss, obesity, insulin ...
Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni, Ludmila Podracká, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson, Kairit Joost, Leonardo Colombo, Matteo Bertelli   +12 more
doaj   +1 more source

Early-Onset Alström Syndrome: Clinical Clues from a Pediatric Case Series

International Journal of Pediatrics and Child Health
Background; Alström syndrome (AS) is characterized by core clinical features, including cone-rod dystrophy, early-onset obesity, progressive bilateral sensorineural hearing loss, type 2 diabetes mellitus, and cardiomyopathy.
E. Maines, F. Soli, F. Rivieri, V. Cauvin, M. Bellizzi, M. Soffiati, R. Franceschi   +6 more
semanticscholar   +1 more source