gopubmed logo
 
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Alstrom syndrome 1

ALMS1
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.[provided by RefSeq, Mar 2009] (from NCBI)
Top mentioned proteins: Insulin, ROD, AGE, HAD, CAN
Papers on ALMS1
Extensive Admixture and Selective Pressure Across the Sahel Belt.
New
Pereira et al., Porto, Portugal. In Genome Biol Evol, Dec 2015
The DARC gene region in Arabs and Nubians was enriched for African ancestry, whereas the RAB3GAP1/LCT/MCM6 region in Oromo, the TAS2R gene family in Fulani, and the ALMS1/NAT8 in Turkana and Samburu were enriched for non-African ancestry.
Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing.
New
Park et al., Seoul, South Korea. In Diabetes Metab J, Oct 2015
Alström syndrome is caused by a mutation in the ALMS1 gene, and Bardet-Biedl syndrome is caused by mutations in BBS1-16 genes.
Truncation of POC1A associated with short stature and extreme insulin resistance.
New
Barroso et al., Cambridge, United Kingdom. In J Mol Endocrinol, Oct 2015
Although further metabolic studies of patients with POC1A mutations are warranted, we suggest that POC1A may be added to ALMS1 and PCNT as examples of centrosomal or pericentriolar proteins whose dysfunction leads to extreme dyslipidaemic insulin resistance.
Exercise improves adipose function and inflammation and ameliorates fatty liver disease in obese diabetic mice.
New
Farrell et al., Canberra, Australia. In Obesity (silver Spring), Sep 2015
METHODS: Alms1 mutant foz/foz mice housed in pairs were fed an atherogenic or chow diet; half the cages were fitted with a computer-monitored wheel for voluntary exercise.
Genetic evaluation of patients with Alström syndrome in the Polish population.
New
Mlynarski et al., Łódź, Poland. In Clin Genet, Sep 2015
UNASSIGNED: Alström syndrome (AS) is a rare syndromic form of obesity and type 2 diabetes (T2D) in children coexisting with retinal dystrophy and disorders of many organs caused by the mutations in ALMS1 gene.
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
Review
Özgül et al., Ankara, Turkey. In J Hum Genet, 2015
Alström Syndrome is caused by mutations in ALMS1, and ALMS1 protein is thought to have a role in microtubule organization, intraflagellar transport, endosome recycling and cell cycle regulation.
Rare coding variants and X-linked loci associated with age at menarche.
Perry et al., Boston, United States. In Nat Commun, 2014
Five missense/nonsense variants (in ALMS1/LAMB2/TNRC6A/TACR3/PRKAG1) are associated with age at menarche (minor allele frequencies 0.08-4.6%;
Histopathology of the human inner ear in Alström's syndrome.
Bronson et al., Boston, United States. In Audiol Neurootol, 2014
Alström's syndrome is an autosomal recessive syndromic genetic disorder caused by mutations in the ALMS1 gene.
Alström syndrome: current perspectives.
Review
Valverde et al., Vigo, Spain. In Appl Clin Genet, 2014
In an effort to deepen the understanding of the pathogenesis of ALMS disease, much work has been done, in order to establish the biological implication of ALMS1 protein, which is still being elucidated.
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.
GeneRIF
Chen et al., Houston, United States. In Hum Mutat, 2011
in a set of consanguineous patient families with Leber congenital amaurosis study identified five putative disease-causing mutations, including four novel alleles, in six families; These five mutations are located in four genes, ALMS1, IQCB1, CNGA3, and MYO7A
The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway.
GeneRIF
Naggert et al., Bar Harbor, United States. In Plos One, 2011
a role for ALMS1 variants in the recycling endosome pathway
Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity.
GeneRIF
Forge et al., London, United Kingdom. In Hum Mol Genet, 2011
investigated the role of ALMS1 in the cochlea and the pathogenesis of hearing loss in Alstrom Syndrome
Alström syndrome: insights into the pathogenesis of metabolic disorders.
Review
Petrovsky et al., Adelaide, Australia. In Nat Rev Endocrinol, 2011
Alström syndrome is an autosomal-recessive disorder caused solely by mutations in ALMS1.
ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis.
GeneRIF
Vettor et al., Padova, Italy. In Plos One, 2010
ALMS1-deficient fibroblasts showed a constitutively activated myofibroblast phenotype even if they do not derive from a fibrotic lesion.
Alström syndrome with acanthosis nigricans: a case report and literature review.
Review
Kosem et al., Van, Turkey. In Genet Couns, 2010
AS is caused by mutations in the ALMS1 gene, which is located at chromosome 2p13.
Chronic kidney disease: novel insights from genome-wide association studies.
Review
Heid et al., Regensburg, Germany. In Kidney Blood Press Res, 2010
UMOD, SHROOM3, STC1, LASS2, GCKR, ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, PRKAG2, PIP5K1B, ATXN2/SH2B3, DACH1, UBE2Q2, and SLC7A9 were uncovered as loci associated with estimated glomerular filtration rate (eGFR) and CKD, and CUBN as a locus for albuminuria in cross-sectional data of general population studies.
Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731.
GeneRIF
Hearn et al., Southampton, United Kingdom. In Mol Biol Cell, 2010
data suggest centrosomal functions for C10orf90 and KIAA1731 and new centriole-related functions for ALMS1
New loci associated with kidney function and chronic kidney disease.
Impact
Fox et al., Baltimore, United States. In Nat Genet, 2010
Follow-up of the 23 new genome-wide-significant loci (P < 5 x 10(-8)) in 22,982 replication samples identified 13 new loci affecting renal function and CKD (in or near LASS2, GCKR, ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, PRKAG2, PIP5K1B, ATXN2, DACH1, UBE2Q2 and SLC7A9) and 7 loci suspected to affect creatinine production and secretion (CPS1, SLC22A2, TMEM60, WDR37, SLC6A13, WDR72 and BCAS3).
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.
Impact
GeneRIF
Naggert et al., Bar Harbor, United States. In Nat Genet, 2002
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome.
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.
Impact
GeneRIF
Wilson et al., Southampton, United Kingdom. In Nat Genet, 2002
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome.
share on facebooktweetadd +1mail to friends