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Year Number of Results
2016 2
2018 2
2019 5
2020 6
2021 5
2022 5
2024 2

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24 results

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Page 1
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, Pres… See abstract for full author list ➔ Bryant L, et al. Among authors: janssen k. Sci Adv. 2020 Dec 2;6(49):eabc9207. doi: 10.1126/sciadv.abc9207. Print 2020 Dec. Sci Adv. 2020. PMID: 33268356 Free PMC article.
Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation.
Schaefer PM, Scherer Alves L, Lvova M, Huang J, Rathi K, Janssen K, Butic A, Yardeni T, Morrow R, Lott M, Murdock D, Song A, Keller K, Garcia BA, Francomano CA, Wallace DC. Schaefer PM, et al. Among authors: janssen k. Proc Natl Acad Sci U S A. 2022 Nov 8;119(45):e2212417119. doi: 10.1073/pnas.2212417119. Epub 2022 Nov 2. Proc Natl Acad Sci U S A. 2022. PMID: 36322731 Free PMC article.
A mitochondrial surveillance mechanism activated by SRSF2 mutations in hematologic malignancies.
Liu X, Devadiga SA, Stanley RF, Morrow RM, Janssen KA, Quesnel-Vallières M, Pomp O, Moverley AA, Li C, Skuli N, Carroll MP, Huang J, Wallace DC, Lynch KW, Abdel-Wahab O, Klein PS. Liu X, et al. Among authors: janssen ka. J Clin Invest. 2024 May 7:e175619. doi: 10.1172/JCI175619. Online ahead of print. J Clin Invest. 2024. PMID: 38713535 Free article.
TET2 chemically modifies tRNAs and regulates tRNA fragment levels.
He C, Bozler J, Janssen KA, Wilusz JE, Garcia BA, Schorn AJ, Bonasio R. He C, et al. Among authors: janssen ka. Nat Struct Mol Biol. 2021 Jan;28(1):62-70. doi: 10.1038/s41594-020-00526-w. Epub 2020 Nov 23. Nat Struct Mol Biol. 2021. PMID: 33230319 Free PMC article.
Regulation of nuclear epigenome by mitochondrial DNA heteroplasmy.
Kopinski PK, Janssen KA, Schaefer PM, Trefely S, Perry CE, Potluri P, Tintos-Hernandez JA, Singh LN, Karch KR, Campbell SL, Doan MT, Jiang H, Nissim I, Nakamaru-Ogiso E, Wellen KE, Snyder NW, Garcia BA, Wallace DC. Kopinski PK, et al. Among authors: janssen ka. Proc Natl Acad Sci U S A. 2019 Aug 6;116(32):16028-16035. doi: 10.1073/pnas.1906896116. Epub 2019 Jun 28. Proc Natl Acad Sci U S A. 2019. PMID: 31253706 Free PMC article.
24 results