Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alström Syndrome (ALMS) is an extremely rare multiorgan disease caused by mutations in ALMS1.
|
22498418 |
2013 |
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alström syndrome (ALMS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene.
|
22447358 |
2013 |
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The aim of our study was to further define the spectrum of ALMS1 mutations in patients with clinical features of ALMS.
|
25846608 |
2015 |
Alstrom Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1.
|
20381594 |
2010 |
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alström Syndrome (AS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene.
|
28407410 |
2017 |
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Overall, due to the large size of the ALMS1 gene and clinical similarity with other ciliopathies and genetic disorders, whole exome sequencing can be useful for the identification of pathogenic mutations and the improvement of AS clinical management.
|
31669637 |
2020 |
Alstrom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Alms1-/- mice develop features similar to patients with AS, including obesity, hypogonadism, hyperinsulinemia, retinal dysfunction and late-onset hearing loss.
|
16000322 |
2005 |
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome.
|
16720663 |
2006 |
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome.
|
24319333 |
2013 |
Alstrom Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
ALMS1 expression (real-time PCR and immunocytochemistry) and cilia formation (immunocytochemistry) were assessed in fibroblasts from deeply phenotyped volunteers diagnosed with AS recruited from a dedicated AS Service.
|
28717663 |
2017 |
Alstrom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The identification of ALMS1 provides an entry point into a new pathway leading toward the understanding of both Alström syndrome and the common diseases that characterize it.
|
11941369 |
2002 |
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alström syndrome (AS) is a monogenic syndromic ciliopathy caused by mutations in the ALMS1 (Alström Syndrome 1) gene.
|
31755649 |
2020 |
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although more than 200 pathogenic mutations in ALMS1 have been identified to date in AS patients from various ethnic populations, there are very few reports of ALMS1 founder mutations in isolated populations.
|
28402684 |
2017 |
Alstrom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here we investigated the role of Alms1 disruption in AT expansion and insulin responsiveness in a murine model for Alström Syndrome.
|
25299671 |
2014 |
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Five novel ALMS1 gene mutations in six patients with Alström syndrome.
|
29715191 |
2018 |
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This strategy would still not suffice for treatment of IRDs such as Usher syndrome type 1D or Alström syndrome type I (ALMS) due to mutations in CDH23 or ALMS1, respectively.
|
29292161 |
2018 |
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our findings expand the spectrum of ALMS1 mutations causing Alström syndrome.
|
22876109 |
2012 |
Alstrom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypes.
|
31220269 |
2019 |
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
ALMS has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous; thus, these data from a particular population may provide a unique source for the identification of additional mutations underlying Alström Syndrome and contribute to genotype-phenotype correlation studies.
|
25296579 |
2015 |
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We reported a novel ALMS1 mutation.Whole genome sequencing is a powerful tool to provide the full spectrum of genetic variations for heterogeneous disorders such as Alström syndrome.
|
28724398 |
2017 |
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
ALMS1 and DYSF are genetically and physically linked on chromosome 2 in a genomic region suggested by HM and associated with Alström syndrome, which includes CRD, and with limb girdle muscular dystrophy, respectively.
|
26077327 |
2015 |
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alström syndrome (ALMS1, MIM 203800) is a rare, autosomal recessively inherited monogenic condition caused by mutations in the ALMS1 gene located on the short arm of chromosome 2.
|
19440062 |
2009 |
Alstrom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We have detected six different mutations (two nonsense and four frameshift mutations causing premature stop codons) in seven families, confirming that ALMS1 is the gene underlying Alström syndrome.
|
11941370 |
2002 |
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ALMS1 gene have been found to be causative for AS with a total of 79 disease-causing mutations having been described.
|
18154657 |
2007 |
Alstrom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the present case, targeted genetic analysis of a child with a syndromic cone-rod dystrophy yielded a novel splicing mutation in ALMS1 causing Alstrom syndrome.
|
30600744 |
2019 |