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219 results

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New pathogenic variants of ALMS1 gene in two Chinese families with Alstrom Syndrome.
Cheng WY, Ma MJ, Yuan SQ, Qi XL, Rong WN, Sheng XL. Cheng WY, et al. BMC Ophthalmol. 2022 Sep 26;22(1):386. doi: 10.1186/s12886-022-02597-3. BMC Ophthalmol. 2022. PMID: 36162988 Free PMC article.
DNA analysis revealed that she carried a compound heterozygote with two novel pathogenic variants in the ALMS1 gene NM_015120.4:c.10379del (NP_055935.4:p.(Asp2252Tyr)) and NM_015120.4:c.11641_11642del (NP_055935.4:p....CONCLUSIONS: We found two new compound heterozy …
DNA analysis revealed that she carried a compound heterozygote with two novel pathogenic variants in the ALMS1 gene NM_015120. …
Gene symbol: ALMS1.
Flintoff KJ, Pilz D. Flintoff KJ, et al. Hum Genet. 2007 Apr;121(2):287. doi: 10.1007/s00439-006-0321-z. Hum Genet. 2007. PMID: 17354001 No abstract available.
A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat.
Meurs KM, Williams BG, DeProspero D, Friedenberg SG, Malarkey DE, Ezzell JA, Keene BW, Adin DB, DeFrancesco TC, Tou S. Meurs KM, et al. Orphanet J Rare Dis. 2021 Feb 27;16(1):108. doi: 10.1186/s13023-021-01740-5. Orphanet J Rare Dis. 2021. PMID: 33639992 Free PMC article.
Hypertrophic cardiomyopathy has not been described. The ALMS1 gene is a large gene that encodes for a ubiquitously expressed protein. ...Our findings suggest that variants in genes involved with cardiac development and cell regulation, like the ALMS …
Hypertrophic cardiomyopathy has not been described. The ALMS1 gene is a large gene that encodes for a ubiquitously expr …
Novel Mutations of the ALMS1 Gene in Patients with Alstrom Syndrome.
Wang C, Luo X, Wang Y, Liu Z, Wu S, Wang S, Lan X, Xu Q, Xu W, Yuan F, Wang A, Zeng F, Jia J, Chen Y. Wang C, et al. Intern Med. 2021 Dec 1;60(23):3721-3728. doi: 10.2169/internalmedicine.6467-20. Epub 2021 Jun 19. Intern Med. 2021. PMID: 34148947 Free PMC article.
Results Whole-exome sequencing revealed two novel variants, c.6160_6161insAT: p.Lys2054Asnfs*21 (exon 8) and c.10823_10824 delAG:p.Glu 3608Alafs*9 (exon16) in the ALMS1 gene, leading to premature termination codons and the domain of ALMS1 protein. ...Assembly …
Results Whole-exome sequencing revealed two novel variants, c.6160_6161insAT: p.Lys2054Asnfs*21 (exon 8) and c.10823_10824 delAG:p.Glu 3608A …
Unraveling Alstrom syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.
Abosabie SAS, Abosabie SA, Alfaifi J, Alqahtani YA, Shati AA, Alotaibi NA, Alghamdi OA, Alotaibi GN, Baabdullah AA, Kabrah LK, Kamal NM, Oshi MAM, Abdallah EAA. Abosabie SAS, et al. Mol Genet Genomic Med. 2024 Jan;12(1):e2314. doi: 10.1002/mgg3.2314. Epub 2023 Nov 8. Mol Genet Genomic Med. 2024. PMID: 37937857 Free PMC article. Review.
RESULTS: Within our studied extended family, we identified two individuals harboring the homozygous pathogenic mutation (c.2729C>G) in the ALMS1 gene [NM_015120.4:c.2729C>G (p.Ser910*)]. Notably, carrier status was observed in the parents, whereas some sibling …
RESULTS: Within our studied extended family, we identified two individuals harboring the homozygous pathogenic mutation (c.2729C>G) in th …
Loss of the centrosomal protein ALMS1 alters lipid metabolism and the regulation of extracellular matrix-related processes.
Bea-Mascato B, Gómez-Castañeda E, Sánchez-Corrales YE, Castellano S, Valverde D. Bea-Mascato B, et al. Biol Direct. 2023 Dec 8;18(1):84. doi: 10.1186/s13062-023-00441-2. Biol Direct. 2023. PMID: 38062477 Free PMC article.
However, the cellular impact of these deregulated pathways in the absence of ALMS1 remains unknown. METHODS: In this study, we integrated RNA-seq and proteomic analysis to determine the gene expression profile of hTERT-BJ-5ta ALMS1 knockout fibroblasts after …
However, the cellular impact of these deregulated pathways in the absence of ALMS1 remains unknown. METHODS: In this study, we integr …
LncRNA ALMS1-IT1 is a novel prognostic biomarker and correlated with immune infiltrates in colon adenocarcinoma.
Lin Y, Li Y, Chen Y, Zhang Z. Lin Y, et al. Medicine (Baltimore). 2022 Oct 21;101(42):e31314. doi: 10.1097/MD.0000000000031314. Medicine (Baltimore). 2022. PMID: 36281164 Free PMC article.
Gene oncology (GO) and (Kyoto Encyclopedia of Genes and Genomes) KEGG enrichment analysis were used to predict the function of differentially expressed genes associated with ALMS1-IT1. Gene set enrichment analysis (GSEA) was used to predict cano …
Gene oncology (GO) and (Kyoto Encyclopedia of Genes and Genomes) KEGG enrichment analysis were used to predict the function of …
ALMS1 and Alstrom syndrome: a recessive form of metabolic, neurosensory and cardiac deficits.
Hearn T. Hearn T. J Mol Med (Berl). 2019 Jan;97(1):1-17. doi: 10.1007/s00109-018-1714-x. Epub 2018 Nov 12. J Mol Med (Berl). 2019. PMID: 30421101 Free PMC article. Review.
ALMS1 encodes a ~ 0.5 megadalton protein that localises to the base of centrioles. ...This review outlines the evidence for both ciliary and extra-ciliary functions of ALMS1....
ALMS1 encodes a ~ 0.5 megadalton protein that localises to the base of centrioles. ...This review outlines the evidence for both cili …
[Analysis of ALMS1 gene variants in seven patients with Alstrom syndrome].
Ding Y, Zhang Q, He Y, Zhang L, Li N, Chang G, Chen Y, Wang J, Wu J, Fu L, Wang X. Ding Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Feb 10;38(2):112-116. doi: 10.3760/cma.j.cn511374-20200115-00033. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 33565060 Chinese.
Based on the standards and guidelines of American College of Medical Genetics and Genomics, the c.9379C>T and c.12115C>T variants of the ALMS1 gene were predicted to be likely pathogenic (PVS1+PM2), whilst the other 10 variants were predicted to be pathogenic …
Based on the standards and guidelines of American College of Medical Genetics and Genomics, the c.9379C>T and c.12115C>T variants of t …
New variants of ALMS1 gene and familial Alstrom syndrome case series.
Queiroz IC, Carasek N, Ferreira LCV, Oliveira LAT, Correia FM, Elias TGA, Bahmad F Jr. Queiroz IC, et al. Braz J Otorhinolaryngol. 2024 Feb 22;90(3):101402. doi: 10.1016/j.bjorl.2024.101402. Online ahead of print. Braz J Otorhinolaryngol. 2024. PMID: 38428329 Free PMC article.
OBJECTIVES: To report two new variants of ALMS1 gene and to discuss the audiological evolution and clinical phenotype in two pairs of siblings with Alstrom syndrome. ...Additionally, the present study identified two heterozygous mutations in the ALMS1 gene …
OBJECTIVES: To report two new variants of ALMS1 gene and to discuss the audiological evolution and clinical phenotype in two p …
219 results