The FASEB Journal, 2020 Inactivating mutations in the ALMS1 gene in humans cause early onset obesity and metabolic syndrome. Deletion of ALMS1 in rodents induces early onset obesity and insulin resistance on normal chow. The mechanisms by which ALMS1 cause obesity are not clear but likely involve the development
Victoria C. Ortiz +3 more
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Unique phenotypic–genotypic correlation in Saudi patients with ALMS1 mutations
Saudi Journal of Ophthalmology, 2023 Abstract Mutations in the ALMS1 gene have been linked to isolated inherited retinal dystrophy or Alström syndrome. This report illustrates the unique pattern of ALMS1-associated diseases in a set of three simplex Saudi patients originating from unrelated consanguineous families.
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High Prevalence Mutations in ALMS1 in Spanish Alström Patients [PDF]
, 2020 Abstract Background:Alström syndrome (ALMS) is a rare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein of the basal body and centrosomes.
Brais Bea Mascato +6 more
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LncRNA ALMS1‐IT1 modulates ferroptosis and immune evasion in colorectal cancer through activating STAT3 [PDF]
Journal of Cellular and Molecular MedicineXing Chungen, Junwei Zou
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ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis. [PDF]
PLoS ONE, 2011 Alström Syndrome (ALMS) is a rare genetic disorder (483 living cases), characterized by many clinical manifestations, including blindness, obesity, type 2 diabetes and cardiomyopathy.
Elisabetta Zulato +16 more
doaj +1 more source
GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance. [PDF]
PLoS ONE, 2014 Dysregulation of signaling pathways in adipose tissue leading to insulin resistance can contribute to the development of obesity-related metabolic disorders.
Francesca Favaretto +7 more
doaj +1 more source
Limited Utility of Existing Hearing Loss Panels in the Assessment of Early-Onset, Bilateral Meniere's Disease. [PDF]
OTO OpenAbstract Objective While the etiology of Meniere's disease (MD) is likely multifactorial, genetics are thought to play a role. Several previous studies have yielded inconclusive results, potentially due to phenotypic uncertainty and variable diagnostic criteria.
Shah KV +6 more
europepmc +2 more sources
ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits [PDF]
Journal of Molecular Medicine, 2018 Alström syndrome (AS) is characterised by metabolic deficits, retinal dystrophy, sensorineural hearing loss, dilated cardiomyopathy and multi-organ fibrosis. Elucidating the function of the mutated gene, ALMS1, is critical for the development of specific treatments and may uncover pathways relevant to a range of other disorders including common forms ...
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Infant Alstrom syndrome diagnosed by a new gene mutation: a case report
Journal of International Medical Research, 2023 Alstrom syndrome is a rare autosomal recessive disorder resulting from an ALMS1 gene mutation. Here, we present the clinical data of a case of an infant diagnosed with Alstrom syndrome through whole-exome sequencing.
Yujiao Ye +4 more
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Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria [PDF]
European Journal of Medical Genetics, 2014 We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dilated cardiomyopathy and retinopathy. A diagnosis of Alström Syndrome (AS) was considered and diagnostic testing pursued. The Alströms gene (ALMS1) is very large (23 exons) and diagnostic testing of mutational hotspots (exon 6, 8 and 10) was negative ...
Jillian, Casey +6 more
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