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1993 1
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122 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, 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.
These data suggest that the mechanism of germline mutations are distinct from cancer-associated somatic histone mutations but may converge on control of cell proliferation....
These data suggest that the mechanism of germline mutations are distinct from cancer-associated somatic histone mutations but may con …
Antisense oligonucleotide therapy for H3.3K27M diffuse midline glioma.
Zhang Q, Yang L, Liu YH, Wilkinson JE, Krainer AR. Zhang Q, et al. Sci Transl Med. 2023 Apr 12;15(691):eadd8280. doi: 10.1126/scitranslmed.add8280. Epub 2023 Apr 12. Sci Transl Med. 2023. PMID: 37043556 Free PMC article.
In this study, we designed and systematically screened 2'-O-methoxyethyl phosphorothioate antisense oligonucleotides (ASOs) that direct RNase H-mediated knockdown of H3-3A mRNA. We identified a lead ASO that effectively reduced H3-3A mRNA and H3.3K27M …
In this study, we designed and systematically screened 2'-O-methoxyethyl phosphorothioate antisense oligonucleotides (ASOs) that direct RNas …
The cancer driver genes IDH1/2, JARID1C/ KDM5C, and UTX/ KDM6A: crosstalk between histone demethylation and hypoxic reprogramming in cancer metabolism.
Chang S, Yim S, Park H. Chang S, et al. Exp Mol Med. 2019 Jun 20;51(6):1-17. doi: 10.1038/s12276-019-0230-6. Exp Mol Med. 2019. PMID: 31221981 Free PMC article. Review.
Recent studies on mutations in cancer genomes have distinguished driver mutations from passenger mutations, which occur as byproducts of cancer development. The cancer genome atlas (TCGA) project identified 299 genes and 24 pathways/biological processes that …
Recent studies on mutations in cancer genomes have distinguished driver mutations from passenger mutations, which occur as byproducts …
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
Okur V, Chen Z, Vossaert L, Peacock S, Rosenfeld J, Zhao L, Du H, Calamaro E, Gerard A, Zhao S, Kelsay J, Lahr A, Mighton C, Porter HM, Siemon A, Silver J, Svihovec S, Fong CT, Grant CL, Lerner-Ellis J, Manickam K, Madan-Khetarpal S, McCandless SE, Morel CF, Schaefer GB, Berry-Kravis EM, Gates R, Gomez-Ospina N, Qiu G, Zhang TJ, Wu Z, Meng L, Liu P, Scott DA, Lupski JR, Eng CM, Wu N, Yuan B. Okur V, et al. NPJ Genom Med. 2021 Dec 7;6(1):104. doi: 10.1038/s41525-021-00268-8. NPJ Genom Med. 2021. PMID: 34876591 Free PMC article.
The histone H3 variant H3.3, encoded by two genes H3-3A and H3-3B, can replace canonical isoforms H3.1 and H3.2. H3.3 is important in chromatin compaction, early embryonic development, and lineage commitment. ...Here we report eleven de novo missense variants and on …
The histone H3 variant H3.3, encoded by two genes H3-3A and H3-3B, can replace canonical isoforms H3.1 and H3.2. H3.3 is impor …
Liquid biopsy in H3K27M diffuse midline glioma.
Patel J, Aittaleb R, Doherty R, Gera A, Lau B, Messinger D, Wadden J, Franson A, Saratsis A, Koschmann C. Patel J, et al. Neuro Oncol. 2024 May 3;26(Supplement_2):S101-S109. doi: 10.1093/neuonc/noad229. Neuro Oncol. 2024. PMID: 38096156 Free PMC article. Review.
Diffuse midline glioma (DMG) with H3K27M mutation is an aggressive and difficult to treat pediatric brain tumor. Recurrent gain of function mutations in H3.3 (H3.3A) and H3.1 (H3C2) at the 27th lysine to methionine (H3K27M) are seen in over 2/3 of DMGs, and are asso …
Diffuse midline glioma (DMG) with H3K27M mutation is an aggressive and difficult to treat pediatric brain tumor. Recurrent gain of function …
H3 G34-mutant high-grade glioma.
Lim KY, Won JK, Park CK, Kim SK, Choi SH, Kim T, Yun H, Park SH. Lim KY, et al. Brain Tumor Pathol. 2021 Jan;38(1):4-13. doi: 10.1007/s10014-020-00378-8. Epub 2020 Sep 29. Brain Tumor Pathol. 2021. PMID: 32995948
Chondroblastoma: An Update.
Chen W, DiFrancesco LM. Chen W, et al. Arch Pathol Lab Med. 2017 Jun;141(6):867-871. doi: 10.5858/arpa.2016-0281-RS. Arch Pathol Lab Med. 2017. PMID: 28557595 Free article. Review.
The Evolving Molecular Landscape of High-Grade Gliomas.
Pinarbasi E, Pratt D. Pinarbasi E, et al. Cancer J. 2021 Sep-Oct 01;27(5):337-343. doi: 10.1097/PPO.0000000000000542. Cancer J. 2021. PMID: 34570447 Review.
The discovery of mutations in a key metabolic enzyme (IDH), histone genes (H3-3A), and large-scale chromosome changes (+7/-10, 1p/19q) are examples of specific alterations that now supplant traditional histologic interpretation. ...
The discovery of mutations in a key metabolic enzyme (IDH), histone genes (H3-3A), and large-scale chromosome changes (+7/-10, …
Diagnostic Utility of Genetic and Immunohistochemical H3-3A Mutation Analysis in Giant Cell Tumour of Bone.
Wągrodzki M, Tysarowski A, Seliga K, Wojnowska A, Stepaniuk M, Castañeda Wysocka P, Makuła D, Pieńkowski A, Szostakowski B, Zub R, Rutkowski P. Wągrodzki M, et al. Int J Mol Sci. 2022 Jan 16;23(2):969. doi: 10.3390/ijms23020969. Int J Mol Sci. 2022. PMID: 35055156 Free PMC article.
We confirmed in a large series of patients that evaluation of H3-3A mutational status using direct sequencing is a reliable tool for diagnosing GCTB, and it should be incorporated into the diagnostic algorithm. ...Proper tissue processing and decalcification are nec …
We confirmed in a large series of patients that evaluation of H3-3A mutational status using direct sequencing is a reliable to …
Pan-tumor landscape of fibroblast growth factor receptor 1-4 genomic alterations.
Murugesan K, Necchi A, Burn TC, Gjoerup O, Greenstein R, Krook M, López JA, Montesion M, Nimeiri H, Parikh AR, Roychowdhury S, Schwemmers S, Silverman IM, Vogel A. Murugesan K, et al. ESMO Open. 2022 Dec;7(6):100641. doi: 10.1016/j.esmoop.2022.100641. Epub 2022 Nov 30. ESMO Open. 2022. PMID: 36462464 Free PMC article.
BACKGROUND: Selective tyrosine kinase inhibitors targeting fibroblast growth factor receptor (FGFR) 1-4 genomic alterations are in development or have been approved for FGFR-altered cancers (e.g. bladder cancer and advanced intrahepatic cholangiocarcinoma). ...In in …
BACKGROUND: Selective tyrosine kinase inhibitors targeting fibroblast growth factor receptor (FGFR) 1-4 genomic alterations are in developme …
122 results