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PubMed for id: 1677530150

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Page 1
TBCK syndrome: a rare multi-organ neurodegenerative disease.
Durham EL, Angireddy R, Black A, Melendez-Perez A, Smith S, Gonzalez EM, Navarro KG, Díaz A, Bhoj EJK, Katsura KA. Durham EL, et al. Trends Mol Med. 2023 Oct;29(10):783-785. doi: 10.1016/j.molmed.2023.06.009. Epub 2023 Jul 14. Trends Mol Med. 2023. PMID: 37455236 Free PMC article.
Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.
Nair D, Diaz-Rosado A, Varella-Branco E, Ramos I, Black A, Angireddy R, Park J, Murali S, Yoon A, Ciesielski B, O'Brien WT, Passos-Bueno MR, Bhoj E. Nair D, et al. Am J Med Genet A. 2023 Oct;191(10):2508-2517. doi: 10.1002/ajmg.a.63320. Epub 2023 Jun 23. Am J Med Genet A. 2023. PMID: 37353954
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
Wilk JB, Shrine NR, Loehr LR, Zhao JH, Manichaikul A, Lopez LM, Smith AV, Heckbert SR, Smolonska J, Tang W, Loth DW, Curjuric I, Hui J, Cho MH, Latourelle JC, Henry AP, Aldrich M, Bakke P, Beaty TH, Bentley AR, Borecki IB, Brusselle GG, Burkart KM, Chen TH, Couper D, Crapo JD, Davies G, Dupuis J, Franceschini N, Gulsvik A, Hancock DB, Harris TB, Hofman A, Imboden M, James AL, Khaw KT, Lahousse L, Launer LJ, Litonjua A, Liu Y, Lohman KK, Lomas DA, Lumley T, Marciante KD, McArdle WL, Meibohm B, Morrison AC, Musk AW, Myers RH, North KE, Postma DS, Psaty BM, Rich SS, Rivadeneira F, Rochat T, Rotter JI, Soler Artigas M, Starr JM, Uitterlinden AG, Wareham NJ, Wijmenga C, Zanen P, Province MA, Silverman EK, Deary IJ, Palmer LJ, Cassano PA, Gudnason V, Barr RG, Loos RJ, Strachan DP, London SJ, Boezen HM, Probst-Hensch N, Gharib SA, Hall IP, O'Connor GT, Tobin MD, Stricker BH. Wilk JB, et al. Am J Respir Crit Care Med. 2012 Oct 1;186(7):622-32. doi: 10.1164/rccm.201202-0366OC. Epub 2012 Jul 26. Am J Respir Crit Care Med. 2012. PMID: 22837378 Free PMC article.
A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.
Kalsi G, Kuo PH, Aliev F, Alexander J, McMichael O, Patterson DG, Walsh D, Zhao Z, Schuckit M, Nurnberger J Jr, Edenberg H, Kramer J, Hesselbrock V, Tischfield JA, Vladimirov V, Prescott CA, Dick DM, Kendler KS, Riley BP. Kalsi G, et al. Hum Mol Genet. 2010 Jun 15;19(12):2497-506. doi: 10.1093/hmg/ddq112. Epub 2010 Mar 23. Hum Mol Genet. 2010. PMID: 20332099 Free PMC article.