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ALMS1 gene

Known as: ALMS1, ALMS1, centrosome and basal body associated protein, KIAA0328 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Whole Exome Sequencing identified two homozygous ALMS1 Mutations in an Iranian Family with Alström Syndrome.
2017
2017
Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes.
Purpose Our goal was to describe the clinical and molecular genetic findings in Thai patients with Leber congenital amaurosis… 
2017
2017
Alstrom Syndrome with Novel ALMS1 Mutations: A Case Report
Abstract Objective To report novel mutations of ALMS1 and evaluate clinical characteristics in the Chinese Child with Alstrom… 
2017
2017
Deletion of ALMS1 (Alstrom Syndrome 1) enhances salt‐sensitive hypertension, and induces insulin resistance and obesity in rats.
The Na/K/2Cl cotransporter NKCC2 mediates NaCl absorption by the Thick Ascending Limb (TAL). Increased NKCC2 activity and apical… 
2017
2017
A Nonsense ALMS1 Mutation Underlies Alström Syndrome in an Extended Mennonite Kindred Settled in North Mexico.
AIM Alström syndrome (AS) is a rare autosomal recessive multisystem disease caused by biallelic mutations in ALMS1, a gene… 
2011
2011
The unique combination of dermatological and ocular phenotypes in Alström syndrome: severe presentation, early onset and two novel ALMS1 mutations
Alstrom Syndrome (ALMS) (MIM #203800) is a rare, complex, autosomal recessive genetic disorder affecting multiple organs and… 
2011
2011
Compliance with indoor tanning advertising regulations in France
ultrasonography showed fatty liver. Menarche occurred at age 11Æ5 years, with regular menstruation for 6 months, but she has… 
2009
2009
Population genomic analysis of ALMS1 in humans reveals a surprisingly complex evolutionary history.
Mutations in the human gene ALMS1 result in Alström Syndrome, which presents with early childhood obesity and insulin resistance… 
2007
2007
Effect of Metformin and Rosiglitazone in a Prepubertal Boy with Alström Syndrome
UNLABELLED Alström syndrome (AS) is an autosomal recessive disorder characterized by progressive pigmentary retinopathy… 
2007
2007
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome.
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