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2008 1
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Identification of phagocytosis regulators using magnetic genome-wide CRISPR screens.
Haney MS, Bohlen CJ, Morgens DW, Ousey JA, Barkal AA, Tsui CK, Ego BK, Levin R, Kamber RA, Collins H, Tucker A, Li A, Vorselen D, Labitigan L, Crane E, Boyle E, Jiang L, Chan J, Rincón E, Greenleaf WJ, Li B, Snyder MP, Weissman IL, Theriot JA, Collins SR, Barres BA, Bassik MC. Haney MS, et al. Nat Genet. 2018 Dec;50(12):1716-1727. doi: 10.1038/s41588-018-0254-1. Epub 2018 Nov 5. Nat Genet. 2018. PMID: 30397336 Free PMC article.
After validating select hits in focused miniscreens, orthogonal assays and primary human macrophages, we show that (1) the previously uncharacterized gene NHLRC2 is a central player in phagocytosis, regulating RhoA-Rac1 signaling cascades that control actin polymerization and fil …
After validating select hits in focused miniscreens, orthogonal assays and primary human macrophages, we show that (1) the previously unchar …
TM2D3, a mammalian homologue of Drosophila neurogenic gene product Almondex, regulates surface presentation of Notch receptors.
Masuda W, Yamakawa T, Ajima R, Miyake K, Umemiya T, Azuma K, Tamaru JI, Kiso M, Das P, Saga Y, Matsuno K, Kitagawa M. Masuda W, et al. Sci Rep. 2023 Nov 27;13(1):20913. doi: 10.1038/s41598-023-46866-7. Sci Rep. 2023. PMID: 38016980 Free PMC article.
This activation requires the ligand-binding domain in Notch1 and the C-terminal region containing TM2 domain in TM2D3. TM2D3 physically associates with Notch1 at the region distinct from the ligand-binding domain and enhances expression of Notch1 on the cell surface …
This activation requires the ligand-binding domain in Notch1 and the C-terminal region containing TM2 domain in TM2D3. TM2D3 p …
TM2D3 rs675436 or FGFR2 rs755793 polymorphisms and susceptibility to Epstein-Barr virus-associated tumors in Chinese Han population.
Zhang Q, Liu W, Yang Y, Zhao Z, Luo B. Zhang Q, et al. J Med Virol. 2018 Jun;90(6):1128-1133. doi: 10.1002/jmv.25057. Epub 2018 Feb 27. J Med Virol. 2018. PMID: 29446487
The aim of this study was to assess the association of TM2 domain containing 3 (TM2D3) and fibroblast growth factor receptor 2 (FGFR2) SNPs rs675436 and rs755793 with susceptibility to EBV-associated tumors in Chinese Han population. ...
The aim of this study was to assess the association of TM2 domain containing 3 (TM2D3) and fibroblast growth factor receptor 2 (FGFR2 …
Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease.
Jakobsdottir J, van der Lee SJ, Bis JC, Chouraki V, Li-Kroeger D, Yamamoto S, Grove ML, Naj A, Vronskaya M, Salazar JL, DeStefano AL, Brody JA, Smith AV, Amin N, Sims R, Ibrahim-Verbaas CA, Choi SH, Satizabal CL, Lopez OL, Beiser A, Ikram MA, Garcia ME, Hayward C, Varga TV, Ripatti S, Franks PW, Hallmans G, Rolandsson O, Jansson JH, Porteous DJ, Salomaa V, Eiriksdottir G, Rice KM, Bellen HJ, Levy D, Uitterlinden AG, Emilsson V, Rotter JI, Aspelund T; Cohorts for Heart and Aging Research in Genomic Epidemiology consortium; Alzheimer’s Disease Genetic Consortium; Genetic and Environmental Risk in Alzheimer’s Disease consortium; O'Donnell CJ, Fitzpatrick AL, Launer LJ, Hofman A, Wang LS, Williams J, Schellenberg GD, Boerwinkle E, Psaty BM, Seshadri S, Shulman JM, Gudnason V, van Duijn CM. Jakobsdottir J, et al. PLoS Genet. 2016 Oct 20;12(10):e1006327. doi: 10.1371/journal.pgen.1006327. eCollection 2016 Oct. PLoS Genet. 2016. PMID: 27764101 Free PMC article.
Human TM2D3 is capable of rescuing these phenotypes, but this activity is abolished by P155L, establishing it as a functionally damaging allele. Our results establish a rare TM2D3 variant in association with LOAD susceptibility, and together with prior work suggests …
Human TM2D3 is capable of rescuing these phenotypes, but this activity is abolished by P155L, establishing it as a functionally damag …
Paroxysmal nocturnal hemoglobinuria caused by CN-LOH of constitutional PIGB mutation and 70-kbp microdeletion on 15q.
Langemeijer S, Schaap C, Preijers F, Jansen JH, Blijlevens N, Inoue N, Muus P, Kinoshita T, Murakami Y. Langemeijer S, et al. Blood Adv. 2020 Nov 24;4(22):5755-5761. doi: 10.1182/bloodadvances.2020002210. Blood Adv. 2020. PMID: 33216889 Free PMC article.
The somatic event leading to homozygosity of the germline mutant PIGB gene involved a 70-kbp microdeletion of chromosome 15q containing the TM2D3 and TARSL2 genes, which was implicated in chromosome 15q mosaicism. ...A sister of the mother, who carried the same germline PI …
The somatic event leading to homozygosity of the germline mutant PIGB gene involved a 70-kbp microdeletion of chromosome 15q containing the …
Functional Studies of Genetic Variants Associated with Human Diseases in Notch Signaling-Related Genes Using Drosophila.
Yang SA, Salazar JL, Li-Kroeger D, Yamamoto S. Yang SA, et al. Methods Mol Biol. 2022;2472:235-276. doi: 10.1007/978-1-0716-2201-8_19. Methods Mol Biol. 2022. PMID: 35674905 Free PMC article.
By "humanizing" the almondex gene in Drosophila with mutant alleles and heterologous genomic rescue constructs, a missense variant in TM2D3 (TM2 Domain Containing 3) was shown to be functionally damaging. ...
By "humanizing" the almondex gene in Drosophila with mutant alleles and heterologous genomic rescue constructs, a missense variant in TM2 …
TM2D genes regulate Notch signaling and neuronal function in Drosophila.
Salazar JL, Yang SA, Lin YQ, Li-Kroeger D, Marcogliese PC, Deal SL, Neely GG, Yamamoto S. Salazar JL, et al. PLoS Genet. 2021 Dec 14;17(12):e1009962. doi: 10.1371/journal.pgen.1009962. eCollection 2021 Dec. PLoS Genet. 2021. PMID: 34905536 Free PMC article.
TM2 domain containing (TM2D) proteins are conserved in metazoans and encoded by three separate genes in each model organism species that has been sequenced. Rare variants in TM2D3 are associated with Alzheimer's disease (AD) and its fly ortholog almondex is required for em …
TM2 domain containing (TM2D) proteins are conserved in metazoans and encoded by three separate genes in each model organism species that has …
Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations.
Loh PR, Genovese G, Handsaker RE, Finucane HK, Reshef YA, Palamara PF, Birmann BM, Talkowski ME, Bakhoum SF, McCarroll SA, Price AL. Loh PR, et al. Nature. 2018 Jul;559(7714):350-355. doi: 10.1038/s41586-018-0321-x. Epub 2018 Jul 11. Nature. 2018. PMID: 29995854 Free PMC article.
We found six loci at which inherited variants associated strongly with the acquisition of deletions or loss of heterozygosity in cis. At three such loci (MPL, TM2D3-TARSL2, and FRA10B), we identified a likely causal variant that acted with high penetrance (5-50%). ...
We found six loci at which inherited variants associated strongly with the acquisition of deletions or loss of heterozygosity in cis. At thr …
Fecundity in an infertile man with r(15) - a challenge to the current paradigm.
Kalantari H, Karimi H, Almadani SN, Fakhri M, Mokhtari P, Gourabi H, Mohseni Meybodi A. Kalantari H, et al. Reprod Biomed Online. 2018 Feb;36(2):210-218. doi: 10.1016/j.rbmo.2017.10.115. Epub 2017 Nov 22. Reprod Biomed Online. 2018. PMID: 29223476
Array comparative genomic hybridization results revealed a 563 kb deletion of 15q26.3, overlapping the OMIM genes SNRP1, PCSK6 and TM2D3. The hemizygosity was confirmed with real-time quantitative PCR. Regarding haploinsufficiency in 15q26.3, based on phenotypic characteri …
Array comparative genomic hybridization results revealed a 563 kb deletion of 15q26.3, overlapping the OMIM genes SNRP1, PCSK6 and TM2D3 …
15 results