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493 results

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CKLF instigates a "cold" microenvironment to promote MYCN-mediated tumor aggressiveness.
Qin X, Lam A, Zhang X, Sengupta S, Iorgulescu JB, Ni H, Das S, Rager M, Zhou Z, Zuo T, Meara GK, Floru AE, Kemet C, Veerapaneni D, Kashy D, Lin L, Lloyd K, Kwok L, Smith KS, Nagaraju RT, Meijers R, Ceol C, Liu CT, Alexandrescu S, Wu CJ, Keskin DB, George RE, Feng H. Qin X, et al. Among authors: smith ks. Sci Adv. 2024 Mar 15;10(11):eadh9547. doi: 10.1126/sciadv.adh9547. Epub 2024 Mar 15. Sci Adv. 2024. PMID: 38489372 Free PMC article.
Impact of genome build on RNA-seq interpretation and diagnostics.
Ungar RA, Goddard PC, Jensen TD, Degalez F, Smith KS, Jin CA; Undiagnosed Diseases Network; Bonner DE, Bernstein JA, Wheeler MT, Montgomery SB. Ungar RA, et al. Among authors: smith ks. Am J Hum Genet. 2024 May 31:S0002-9297(24)00168-X. doi: 10.1016/j.ajhg.2024.05.005. Online ahead of print. Am J Hum Genet. 2024. PMID: 38834072
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA; Undiagnosed Diseases Network; Liu B, Majer O, Barton GM. Rael VE, et al. J Exp Med. 2024 Aug 5;221(8):e20232005. doi: 10.1084/jem.20232005. Epub 2024 May 23. J Exp Med. 2024. PMID: 38780621 Free PMC article.
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Among authors: smith ks. Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. Genet Med. 2024. PMID: 38767059
The mitochondrial multi-omic response to exercise training across rat tissues.
Amar D, Gay NR, Jimenez-Morales D, Jean Beltran PM, Ramaker ME, Raja AN, Zhao B, Sun Y, Marwaha S, Gaul DA, Hershman SG, Ferrasse A, Xia A, Lanza I, Fernández FM, Montgomery SB, Hevener AL, Ashley EA, Walsh MJ, Sparks LM, Burant CF, Rector RS, Thyfault J, Wheeler MT, Goodpaster BH, Coen PM, Schenk S, Bodine SC, Lindholm ME; MoTrPAC Study Group. Amar D, et al. Cell Metab. 2024 Jun 4;36(6):1411-1429.e10. doi: 10.1016/j.cmet.2023.12.021. Epub 2024 May 2. Cell Metab. 2024. PMID: 38701776 Free article.
Molecular adaptations in response to exercise training are associated with tissue-specific transcriptomic and epigenomic signatures.
Nair VD, Pincas H, Smith GR, Zaslavsky E, Ge Y, Amper MAS, Vasoya M, Chikina M, Sun Y, Raja AN, Mao W, Gay NR, Esser KA, Smith KS, Zhao B, Wiel L, Singh A, Lindholm ME, Amar D, Montgomery S, Snyder MP, Walsh MJ, Sealfon SC; MoTrPAC Study Group. Nair VD, et al. Among authors: smith ks. Cell Genom. 2024 Apr 29:100421. doi: 10.1016/j.xgen.2023.100421. Online ahead of print. Cell Genom. 2024. PMID: 38697122 Free article.
Sexual dimorphism and the multi-omic response to exercise training in rat subcutaneous white adipose tissue.
Many GM, Sanford JA, Sagendorf TJ, Hou Z, Nigro P, Whytock KL, Amar D, Caputo T, Gay NR, Gaul DA, Hirshman MF, Jimenez-Morales D, Lindholm ME, Muehlbauer MJ, Vamvini M, Bergman BC, Fernández FM, Goodyear LJ, Hevener AL, Ortlund EA, Sparks LM, Xia A, Adkins JN, Bodine SC, Newgard CB, Schenk S; MoTrPAC Study Group. Many GM, et al. Nat Metab. 2024 May;6(5):963-979. doi: 10.1038/s42255-023-00959-9. Epub 2024 May 1. Nat Metab. 2024. PMID: 38693320 Free PMC article.
493 results