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ALMS1 homozygous mutation is associated with Alstrom syndrome.
Two novel mutations causing phenotypic LCA (show CLTA ELISA Kits) and Alstrom syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies.
We conclude that two independent mutations in ALMS1 and DYSF (show DYSF ELISA Kits) cause CRD (show CRX ELISA Kits) and muscular dystrophy in the studied consanguineous Israeli Arab family.
ALMS has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous. In addition, 49 variants of uncertain pathogenicity were noted, and four of these were very rare.
In this study, we have characterized the presenting ophthalmic phenotype of young children molecularly confirmed to harbor recessive homozygous ALMS1 mutations but not yet diagnosed with Alstrom syndrome.
Identification of a homozygous deleterious mutation in the ALMS1 gene as the cause of mitogenic cardiomyopathy in two siblings.
regulates Notch (show NOTCH1 ELISA Kits) activation and the accumulation of receptor in late endosomes
Our observation broadens the clinical spectrum of Alstrom syndrome and suggests that ALMS1 mutations may be considered in patients who initially present with an acute onset of insulin (show INS ELISA Kits)-dependent diabetes
Our study expands the clinical spectrum associated with ALMS1 mutations and supports complete ALMS1 gene sequencing in children that present with infantile cardiomyopathy and retinopathy.
Data indicate that representative single-nucleotide polymorphisms of the Alstrom syndrome 1 gene (ALMS1) promoter region were significantly associated with early-onset myocardial infarction (MI) in both Japanese and Korean populations.
GLUT4 (show SLC2A4 ELISA Kits) defects in adipose tissue are early signs of metabolic alterations in Alms1-deficient mice, a mouse model for obesity and insulin (show INS ELISA Kits) resistance.
This study demonitrated that Alms1 localizes at the base of cilia in hypothalamic neurons and Alms1 is lost from this location in foz/foz mice.
a role for ALMS1 variants in the recycling endosome pathway
investigated the role of ALMS1 in the cochlea and the pathogenesis of hearing loss in Alstrom Syndrome
Disruption in ALMS1 manifests human Alstrom syndrome
In vitro knockdown of Alms1 in mice causes stunted cilia on kidney epithelial cells and prevents these cells from increasing calcium influx in response to mechanical stimuli.
This gene encodes a protein containing a large tandem-repeat domain. The mouse ortholog of this gene has been shown to function in ciliogenesis in inner medullary collecting duct cells. Mutations in this gene have been associated with Alstrom syndrome. Alternative splice variants have been described but their full length sequences have not been determined.
Alstrom syndrome 1
, Alstrom syndrome protein 1-like
, Alstrom syndrome protein 1
, Alstrom syndrome 1 homolog
, Alstrom syndrome protein 1 homolog