Results 1 to 10 of about 2,469,352 (177)

Mesenchymal-specific Alms1 knockout in mice recapitulates metabolic features of Alström syndrome. [PDF]

Mol Metab
Objective Alström Syndrome (AS), caused by biallelic ALMS1 mutations, includes obesity with disproportionately severe insulin resistant diabetes, dyslipidemia, and fatty liver.
McKay EJ, Luijten I, Weng X, Martinez de Morentin PB, De Frutos González E, Gao Z, Kolonin MG, Heisler LK, Semple RK.   +8 more
europepmc   +2 more sources

Role of Alström syndrome 1 in the regulation of glomerular hemodynamics.

Am J Physiol Renal Physiol, 2023
Inactivating mutations in the ALMS1 gene in humans cause Alström syndrome, characterized by the early onset of obesity, insulin resistance, and renal dysfunction. However, the role of ALMS1 in renal function and hemodynamics is unclear.
Monu SR, Potter DL, Liao TD, King KN, Ortiz PA.   +4 more
europepmc   +2 more sources

Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report. [PDF]

BMC Pediatr
Background Alström syndrome (AS) is a rare autosomal recessive disorder that leads to multiple organ fibrosis and failure. Precise diagnosis from the clinical symptoms is challenging due to its highly variabilities and its frequent confusion with other ...
Hu M, Chen S, Wu J, Wang R.
europepmc   +2 more sources

SUN-648 Monogenic Syndromic Obesity of Alström Syndrome as a Model of Premature Aging [PDF]

J Endocr Soc
Disclosure: S. Ali: None. P. Thomas: None. N. Duggal: None. G. da Silva: None. T. Geberhiwot: None. In recent years, cellular senescence has emerged as a key contributor to the pathogenesis of metabolic syndrome (MetS) and its associated complications ...
Sadaf Ali, Patricia Thomas, Niharika Duggal, G. D. Da Silva, Tarekegn Geberhiwot   +4 more
europepmc   +2 more sources

A novel missense ALMS1 variant causes aberrant splicing identified in a cohort of patients with Alström syndrome. [PDF]

Front Genet, 2022
Purpose: Alström syndrome (AS) is a rare autosomal recessive disorder caused by variants of ALMS1. The objectives of this study were to describe the clinical and genetic characteristics of 19 Chinese patients with biallelic variants in ALMS1. Methods: We
Shi J, Xu K, Zhang X, Xie Y, Chang H, Li Y.   +5 more
europepmc   +2 more sources

Characteristic findings of alstrom syndrome with a case report

Open Journal of Clinical Diagnostics, 2013
Alstrom Syndrome is an autosomal recessive genetic disorder affecting multiple systems. The characteristic features of this syndrome are obesity, type 2 diabetes mellitus, rod-cone dystrophy, hearing loss. Developmental delay, nistagmus, dilated cardiomyopathy, hypertension, recurrent pulmonary infections, short stature, hepatic and renal failure ...
SILAN, FATMA, ÖZDEMİR, ÖZTÜRK, ULUDAĞ, AHMET, YALÇINTEPE, SİNEM, GÜR, SAVAŞ, ÜKİNÇ, KUBİLAY, KADIOGLU, LALIZ ESIN   +6 more
exaly   +4 more sources

Alstrom syndrome (OMIM 203800): a case report and literature review [PDF]

Orphanet Journal of Rare Diseases, 2007
Background Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss.
Hegele Robert A, Charlton-Menys Valentine, Malik Rayaz, Black Graeme, Cao Henian, Joy Tisha, Durrington Paul N   +6 more
doaj   +4 more sources

Alström Syndrome: A Challenging Case Study of a Female Saudi Patient With Type 2 Diabetes Mellitus and Complete Vision Loss. [PDF]

Cureus
Alström syndrome is a genetic disease that impacts numerous systems in the human body. The symptoms can vary and appear gradually. Childhood obesity, heart disease (cardiomyopathy), abnormalities in vision, and hearing issues are the main symptoms of ...
Alamri AS, Mahmoud HA, Abu Alnasr AA, Alahmadi AK, Qari YH.   +4 more
europepmc   +2 more sources

7086 Disrupted Mitochondrial Function in Alström Syndrome- A Monogenic Model of Insulin Resistance and Obesity [PDF]

J Endocr Soc
Disclosure: S. Ali: None. S. Heising: None. V. Veeranna: None. A. Vincent: None. G.S. Xavier: None. T. Geberhiwot: None. Alström syndrome (ALMS) is a rare monogenic disease typified by severe insulin resistance (IR) and obesity.
Sadaf Ali, Silke Heising, Vishy Veeranna, Amy E. Vincent, G. Xavier, T. Geberhiwot   +5 more
europepmc   +2 more sources

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, Disha Awasthi, Swapnil Tayal, S Ganguly   +3 more
doaj   +3 more sources