Recombinant Human Alstrom syndrome protein 1 (ALMS1), partial

1. Only genetic testing analysing both nonsyndromic retinal disease (RD) genes and syndromic ciliopathy genes by comprehensive panel sequencing can result in the correct diagnosis, genetically and clinically, with important implication for the physical health of the individual. PMID: 29193673
2. Genetic study included polymerase chain reaction amplification and direct nucleotide sequencing of the entire ALMS1 gene in DNA from seven related Alstrom Syndrome patients. A homozygous single-nucleotide c.10480C>T substitution in exon 16, predicting a p.Q3494* nonsense mutation, was identified in all affected subjects PMID: 28402684
3. DNA microarray analysis suggested that ALMS1 might be differentially expressed between Hodgkin lymphoma (HL) cells and normal tissues. PMID: 28135309
4. ALMS1 homozygous mutation is associated with Alstrom syndrome. PMID: 26910739
5. Two novel mutations causing phenotypic LCA and Alstrom syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies. PMID: 26957854
6. We conclude that two independent mutations in ALMS1 and DYSF cause CRD and muscular dystrophy in the studied consanguineous Israeli Arab family. PMID: 26077327
7. The study represents the most comprehensive mutation analysis in patients with Alstrom Syndrome, identifying the largest number of novel mutations in a single study worldwide. PMID: 25846608
8. 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. PMID: 25296579
9. Data conclude that deficiency of Alstrom protein impairs postnatal cardiomyocyte cell cycle arrest. PMID: 24595103
10. 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. PMID: 25864795
11. Identification of a homozygous deleterious mutation in the ALMS1 gene as the cause of mitogenic cardiomyopathy in two siblings. PMID: 24972238
12. regulates Notch activation and the accumulation of receptor in late endosomes PMID: 24681783
13. 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-dependent diabetes PMID: 23652376
14. 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. PMID: 24503146
15. 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. PMID: 24122612
16. A novel ALMS1 mutation (p.Q2051X) causes Alstrom syndrome in two Japanese brothers but spares their heterozygous parents. PMID: 24319333
17. Data show that mutations in ALMS1 were indicated in 20 of 23 subjects. PMID: 23445176
18. The purpose of this study was to identify ALMS1 mutations and to assess the clinical features of Chinese patients with Alstrom syndrome. PMID: 24049434
19. Dilated cardiomyopathy (DCM) is one of the major manifestations of ALMS and ranges from sudden-onset infantile congestive heart failure (CHF) and DCM, which often resolves with treatment, to adult-onset cardiomyopathy PMID: 22447358
20. Four mutations in ALMS1-two novel nonsense mutations in one family (p.Y1715X and p.S616X), one two previously described mutations were identified in Spanish families with Alstrom syndrome. PMID: 22876109
21. 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 PMID: 21901789
22. a role for ALMS1 variants in the recycling endosome pathway PMID: 22693585
23. ALMS1-deficient fibroblasts showed a constitutively activated myofibroblast phenotype even if they do not derive from a fibrotic lesion. PMID: 21541333
24. data suggest centrosomal functions for C10orf90 and KIAA1731 and new centriole-related functions for ALMS1 PMID: 20844083
25. In summary, this work provides the first data on transcription factors regulating general and context-specific transcription of the disease-associated gene ALMS1. PMID: 20381594
26. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. PMID: 11941369
27. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. PMID: 11941370
28. Variation not associated with NIDDM. PMID: 12827243
29. Alstrom syndrome is an autosomal recessive disease mapped to chromosome 2p12-13. The mutation of the ALMS1 gene causes obesity...and neurosensory degeneration in Alstrom synddrome p. 297 PMID: 14646408
30. ALSM1 involved in central role for basal body and centrosome dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes PMID: 15855349
31. Common variations in the ALMS1 gene were not associated with type 2 diabetes in a large study of a white UK population. PMID: 16601972
32. data may have implications for the understanding of the molecular mechanisms of ALMS1 and provides the basis for further investigation of how alternative splicing of ALMS1 contributes to the severity of the disease PMID: 17594715
33. Data show that Alms1 is expressed at higher level in preadipocytes suggesting a role of the gene in the early phase of adipogenesis. Changes in fat cell insulin sensitivity do not imply any effect on Alms1 expression. PMID: 18506366
34. ALMS1 gene is a marker for a progressive autosomal recessive genetic disorders affecting multiple organs. PMID: 19091203
35. By reporting four novel alleles, we use Alstrom disease to exemplify the interesting observation of allelic heterogeneity for a very rare autosomal recessive disorder in a highly inbred population. PMID: 19283855

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HGNC: 428

OMIM: 203800

KEGG: hsa:7840

STRING: 9606.ENSP00000264448

UniGene: Hs.184720