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242 results

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Page 1
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.
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 …
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. The function of the protein is not well understood although it is believed to be associated with energy metabolism and homeos …
Hypertrophic cardiomyopathy has not been described. The ALMS1 gene is a large gene that encodes for a ubiquitously expr …
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.
Elucidating the function of the mutated gene, ALMS1, is critical for the development of specific treatments and may uncover pathways relevant to a range of other disorders including common forms of obesity and type 2 diabetes. ...This review outlines the evidence fo …
Elucidating the function of the mutated gene, ALMS1, is critical for the development of specific treatments and may uncover pa …
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. Blood sampl …
Results Whole-exome sequencing revealed two novel variants, c.6160_6161insAT: p.Lys2054Asnfs*21 (exon 8) and c.10823_10824 delAG:p.Glu 3608A …
Identification of novel compound heterozygous variants of the ALMS1 gene in a child with Alstrom syndrome by whole genome sequencing.
Xu H, Wang Z, Sa S, Yang Y, Zhang X, Li D. Xu H, et al. Gene. 2024 Dec 15;929:148827. doi: 10.1016/j.gene.2024.148827. Epub 2024 Aug 8. Gene. 2024. PMID: 39122231
Genetic analysis identified novel compound heterozygous variants in the patient, consisting of a frameshift variant c.4414_4415delGT (p.V1472Nfs*26) in ALMS1 and a novel large deletion at chr2:73,612,355-73,626,339, which encompasses exon 1 of the ALMS1 gene. …
Genetic analysis identified novel compound heterozygous variants in the patient, consisting of a frameshift variant c.4414_4415delGT (p.V147 …
Mesenchymal-specific Alms1 knockout in mice recapitulates key metabolic features of Alstrom Syndrome.
McKay EJ, Luijten I, Weng X, Martinez de Morentin PB, De Frutos González E, Gao Z, Kolonin MG, Heisler LK, Semple RK. McKay EJ, et al. bioRxiv [Preprint]. 2023 Oct 13:2023.10.12.562074. doi: 10.1101/2023.10.12.562074. bioRxiv. 2023. Update in: Mol Metab. 2024 Jun;84:101933. doi: 10.1016/j.molmet.2024.101933. PMID: 37873427 Free PMC article. Updated. Preprint.
BACKGROUND: Alstrom Syndrome (AS), a multi-system disease caused by mutations in the ALMS1 gene, includes obesity with disproportionately severe insulin resistant diabetes, dyslipidemia, and hepatosteatosis. ...METHODS: Global Alms1 knockout (KO) mice were ge …
BACKGROUND: Alstrom Syndrome (AS), a multi-system disease caused by mutations in the ALMS1 gene, includes obesity with disprop …
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 …
[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 …
242 results