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1993 1
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PubMed for id: 1780222520

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A novel mutation (p.Y24N) in NHP2 leads to idiopathic pulmonary fibrosis and lung carcinoma chronic obstructive lung disease by disrupting the expression and nucleocytoplasmic localization of NHP2.
Liu L, Sheng Y, Wang CY, Liu X, Guo T, Peng H, Luo H, Fan LL. Liu L, et al. Biochim Biophys Acta Mol Basis Dis. 2023 Jun;1869(5):166692. doi: 10.1016/j.bbadis.2023.166692. Epub 2023 Mar 16. Biochim Biophys Acta Mol Basis Dis. 2023. PMID: 36933847 No abstract available.
Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains.
Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J, Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD, Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S, Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP, Kirstein J, Andrade-Navarro MA, Sharan R, Wanker EE. Haenig C, et al. Cell Rep. 2020 Aug 18;32(7):108050. doi: 10.1016/j.celrep.2020.108050. Cell Rep. 2020. PMID: 32814053 Free article.
A reference map of the human binary protein interactome.
Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Coté AG, Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF, Kishore N, Knapp JJ, Kovács IA, Lemmens I, Mee MW, Mellor JC, Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM, Simonovsky E, Taşan M, Tejeda A, Tropepe V, Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP, Calderwood MA. Luck K, et al. Nature. 2020 Apr;580(7803):402-408. doi: 10.1038/s41586-020-2188-x. Epub 2020 Apr 8. Nature. 2020. PMID: 32296183 Free PMC article.
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.
Benyelles M, O'Donohue MF, Kermasson L, Lainey E, Borie R, Lagresle-Peyrou C, Nunes H, Cazelles C, Fourrage C, Ollivier E, Marcais A, Gamez AS, Morice-Picard F, Caillaud D, Pottier N, Ménard C, Ba I, Fernandes A, Crestani B, de Villartay JP, Gleizes PE, Callebaut I, Kannengiesser C, Revy P. Benyelles M, et al. Hum Mol Genet. 2020 Apr 15;29(6):907-922. doi: 10.1093/hmg/ddaa011. Hum Mol Genet. 2020. PMID: 31985013
Dyskeratosis Congenita and Related Telomere Biology Disorders.
Savage SA, Niewisch MR. Savage SA, et al. 2009 Nov 12 [updated 2023 Jan 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2009 Nov 12 [updated 2023 Jan 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301779 Free Books & Documents. Review.
Directed proteomic analysis of the human nucleolus.
Andersen JS, Lyon CE, Fox AH, Leung AK, Lam YW, Steen H, Mann M, Lamond AI. Andersen JS, et al. Curr Biol. 2002 Jan 8;12(1):1-11. doi: 10.1016/s0960-9822(01)00650-9. Curr Biol. 2002. PMID: 11790298 Free article.