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2022 6
2023 1
2024 0

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Genetics and Epigenetics of Manganese Toxicity.
Lindner S, Lucchini R, Broberg K. Lindner S, et al. Curr Environ Health Rep. 2022 Dec;9(4):697-713. doi: 10.1007/s40572-022-00384-2. Epub 2022 Nov 10. Curr Environ Health Rep. 2022. PMID: 36357556 Free PMC article. Review.
RECENT FINDINGS: Common polymorphisms in the Mn transporter genes SLC30A10 and SLC39A8 seem to have a large impact on intracellular Mn levels and, in turn, neurotoxicity. ...
RECENT FINDINGS: Common polymorphisms in the Mn transporter genes SLC30A10 and SLC39A8 seem to have a large impact on intracellular M …
Manganese efflux transporter SLC30A10 missense polymorphism T95I associated with liver injury retains manganese efflux activity.
Gurol KC, Li D, Broberg K, Mukhopadhyay S. Gurol KC, et al. Am J Physiol Gastrointest Liver Physiol. 2023 Jan 1;324(1):G78-G88. doi: 10.1152/ajpgi.00213.2022. Epub 2022 Nov 22. Am J Physiol Gastrointest Liver Physiol. 2023. PMID: 36414535 Free PMC article.
Homozygous loss-of-function mutations in SLC30A10 are a well-established cause of hereditary Mn toxicity. But, the relationship between more common SLC30A10 polymorphisms, Mn homeostasis, and disease is only recently emerging. In 2021, the first coding SNP in SLC …
Homozygous loss-of-function mutations in SLC30A10 are a well-established cause of hereditary Mn toxicity. But, the relationship betwe …
Epigenomic effects of vitamin D in colorectal cancer.
Khayami R, Goltzman D, Rabbani SA, Kerachian MA. Khayami R, et al. Epigenomics. 2022 Oct;14(19):1213-1228. doi: 10.2217/epi-2022-0288. Epub 2022 Nov 3. Epigenomics. 2022. PMID: 36325830 Review.
We discuss how vitamin D exerts anticancer properties through interactions between the vitamin D receptor and genes (e.g., SLC30A10), the microenvironment, microbiota and other factors in colorectal cancer. ...
We discuss how vitamin D exerts anticancer properties through interactions between the vitamin D receptor and genes (e.g., SLC30A10), …
Germline Mutations in CIDEB and Protection against Liver Disease.
Verweij N, Haas ME, Nielsen JB, Sosina OA, Kim M, Akbari P, De T, Hindy G, Bovijn J, Persaud T, Miloscio L, Germino M, Panagis L, Watanabe K, Mbatchou J, Jones M, LeBlanc M, Balasubramanian S, Lammert C, Enhörning S, Melander O, Carey DJ, Still CD, Mirshahi T, Rader DJ, Parasoglou P, Walls JR, Overton JD, Reid JG, Economides A, Cantor MN, Zambrowicz B, Murphy AJ, Abecasis GR, Ferreira MAR, Smagris E, Gusarova V, Sleeman M, Yancopoulos GD, Marchini J, Kang HM, Karalis K, Shuldiner AR, Della Gatta G, Locke AE, Baras A, Lotta LA. Verweij N, et al. N Engl J Med. 2022 Jul 28;387(4):332-344. doi: 10.1056/NEJMoa2117872. N Engl J Med. 2022. PMID: 35939579
RESULTS: The multistage analysis involved 542,904 persons with available data on liver aminotransferase levels, 24,944 patients with various types of liver disease, and 490,636 controls without liver disease. We found that rare coding variants in APOB, ABCB4, SLC30A10, and …
RESULTS: The multistage analysis involved 542,904 persons with available data on liver aminotransferase levels, 24,944 patients with various …
Ancestry- and sex-specific effects underlying inguinal hernia susceptibility identified in a multiethnic genome-wide association study meta-analysis.
Choquet H, Li W, Yin J, Bradley R, Hoffmann TJ, Nandakumar P; 23 and Me Research Team; Mostaedi R, Tian C, Ahituv N, Jorgenson E. Choquet H, et al. Hum Mol Genet. 2022 Jul 7;31(13):2279-2293. doi: 10.1093/hmg/ddac003. Hum Mol Genet. 2022. PMID: 35022708 Free PMC article.
Ancestry-specific analyses identified two loci (LYPLAL1-AS1/SLC30A10 and STXBP6-NOVA1) in African ancestry individuals. Sex-stratified analyses identified two loci (MYO1D and ZBTB7C) that are specific to women, and four (EBF2, EMX2/RAB11FIP2, VCL and FAM9A/FAM9B) that are …
Ancestry-specific analyses identified two loci (LYPLAL1-AS1/SLC30A10 and STXBP6-NOVA1) in African ancestry individuals. Sex-stratifie …
Association of SNPs in zinc transporter genes on seminal plasma zinc levels in humans.
Deng P, Han X, Ma J, Huang X, Sun B, Geng Y, Zheng B, Wang S. Deng P, et al. Biometals. 2022 Oct;35(5):955-965. doi: 10.1007/s10534-022-00416-2. Epub 2022 Jul 14. Biometals. 2022. PMID: 35834148
SNPs of zinc transporters were analyzed by next Generation sequencing technology, and seminal plasma zinc concentration were determined by inductively coupled plasma optical emission spectrometry. Our date showed nine SNPs (SLC30A8 rs2466295, rs2466294, SLC30A10 c.-160 C&g …
SNPs of zinc transporters were analyzed by next Generation sequencing technology, and seminal plasma zinc concentration were determined by i …