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Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG; DDD Study; Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD; Care4Rare Canada Consortium; Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H; CAUSES Study; Martin MG, Martinez-Agosto JA; Undiagnosed Diseases Network; Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Prescott T,… See abstract for full author list ➔ Bryant L, et al. Sci Adv. 2020 Dec 2;6(49):eabc9207. doi: 10.1126/sciadv.abc9207. Print 2020 Dec. Sci Adv. 2020. PMID: 33268356 Free PMC article.
The E3 ligase adaptor molecule SPOP regulates fetal hemoglobin levels in adult erythroid cells.
Lan X, Khandros E, Huang P, Peslak SA, Bhardwaj SK, Grevet JD, Abdulmalik O, Wang H, Keller CA, Giardine B, Baeza J, Duffner ER, El Demerdash O, Wu XS, Vakoc CR, Garcia BA, Hardison RC, Shi J, Blobel GA. Lan X, et al. Among authors: garcia ba. Blood Adv. 2019 May 28;3(10):1586-1597. doi: 10.1182/bloodadvances.2019032318. Blood Adv. 2019. PMID: 31126914 Free PMC article.
Reprogramming of the epigenome in neurodevelopmental disorders.
Wilson KD, Porter EG, Garcia BA. Wilson KD, et al. Among authors: garcia ba. Crit Rev Biochem Mol Biol. 2022 Feb;57(1):73-112. doi: 10.1080/10409238.2021.1979457. Epub 2021 Oct 2. Crit Rev Biochem Mol Biol. 2022. PMID: 34601997 Free PMC article. Review.
Global Proteomics Analysis of Protein Lysine Methylation.
Cao XJ, Garcia BA. Cao XJ, et al. Among authors: garcia ba. Curr Protoc Protein Sci. 2016 Nov 1;86:24.8.1-24.8.19. doi: 10.1002/cpps.16. Curr Protoc Protein Sci. 2016. PMID: 27801517 Free PMC article.
513 results