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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1987 1
1990 1
1992 2
1993 4
1994 1
1995 2
1996 5
1997 2
1998 3
1999 2
2000 3
2001 2
2002 7
2003 5
2004 9
2005 9
2006 16
2007 13
2008 14
2009 24
2010 33
2011 35
2012 30
2013 37
2014 45
2015 51
2016 38
2017 31
2018 48
2019 53
2020 50
2021 68
2022 49
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615 results
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Page 1
Pediatric hemophagocytic lymphohistiocytosis.
Canna SW, Marsh RA. Canna SW, et al. Blood. 2020 Apr 16;135(16):1332-1343. doi: 10.1182/blood.2019000936. Blood. 2020. PMID: 32107531 Free PMC article. Review.
Classic genetic diseases in which HLH is a typical and common manifestation include pathogenic changes in familial HLH genes (PRF1, UNC13D, STXBP2, and STX11), several granule/pigment abnormality genes (RAB27A, LYST, and AP3B1), X-linked lymphoproliferative disease genes ( …
Classic genetic diseases in which HLH is a typical and common manifestation include pathogenic changes in familial HLH genes (PRF1, U …
Associations between PRF1 Ala91Val polymorphism and risk of hemophagocytic lymphohistiocytosis: a meta-analysis based on 1366 subjects.
Zhu GH, Zhang LP, Li ZG, Wei A, Yang Y, Tian Y, Ma HH, Wang D, Zhao XX, Zhao YZ, Li N, Liu W, Wang TY, Zhang R. Zhu GH, et al. World J Pediatr. 2020 Dec;16(6):598-606. doi: 10.1007/s12519-020-00351-7. Epub 2020 Mar 20. World J Pediatr. 2020. PMID: 32198610 Review.
BACKGROUND: Perforin (PRF1) gene mutation can cause the onset of hemophagocytic lymphohistiocytosis (HLH). It has reported that PRF1 Ala91Val polymorphism was related with HLH risk. In the meta-analysis, we aim to evaluate the association between PRF1 Ala91Va …
BACKGROUND: Perforin (PRF1) gene mutation can cause the onset of hemophagocytic lymphohistiocytosis (HLH). It has reported that PR
The Immunology of Macrophage Activation Syndrome.
Crayne CB, Albeituni S, Nichols KE, Cron RQ. Crayne CB, et al. Front Immunol. 2019 Feb 1;10:119. doi: 10.3389/fimmu.2019.00119. eCollection 2019. Front Immunol. 2019. PMID: 30774631 Free PMC article. Review.
Specific heterozygous gene mutations in familial HLH-associated cytolytic pathway genes (e.g., PRF1, UNC13D) have been linked to a substantial subset of MAS patients. ...
Specific heterozygous gene mutations in familial HLH-associated cytolytic pathway genes (e.g., PRF1, UNC13D) have been linked to a su …
A single-cell map of intratumoral changes during anti-PD1 treatment of patients with breast cancer.
Bassez A, Vos H, Van Dyck L, Floris G, Arijs I, Desmedt C, Boeckx B, Vanden Bempt M, Nevelsteen I, Lambein K, Punie K, Neven P, Garg AD, Wildiers H, Qian J, Smeets A, Lambrechts D. Bassez A, et al. Nat Med. 2021 May;27(5):820-832. doi: 10.1038/s41591-021-01323-8. Epub 2021 May 6. Nat Med. 2021. PMID: 33958794
Expansion mainly involved CD8(+) T cells with pronounced expression of cytotoxic-activity (PRF1, GZMB), immune-cell homing (CXCL13) and exhaustion markers (HAVCR2, LAG3), and CD4(+) T cells characterized by expression of T-helper-1 (IFNG) and follicular-helper (BCL6, CXCR5 …
Expansion mainly involved CD8(+) T cells with pronounced expression of cytotoxic-activity (PRF1, GZMB), immune-cell homing (CXCL13) a …
PRF1 is a prognostic marker and correlated with immune infiltration in head and neck squamous cell carcinoma.
Fan C, Hu H, Shen Y, Wang Q, Mao Y, Ye B, Xiang M. Fan C, et al. Transl Oncol. 2021 Apr;14(4):101042. doi: 10.1016/j.tranon.2021.101042. Epub 2021 Feb 20. Transl Oncol. 2021. PMID: 33618069 Free PMC article.
The prognostic value of PRF1 for HNSCC was further explored by Kaplan-Meier plotter and TIMER. ...High PRF1 expression predicted favorable outcomes in HNSCC, especially in HPV+ HNSCC. ...
The prognostic value of PRF1 for HNSCC was further explored by Kaplan-Meier plotter and TIMER. ...High PRF1 expression predict …
PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity.
Sidore C, Orrù V, Cocco E, Steri M, Inshaw JR, Pitzalis M, Mulas A, McGurnaghan S, Frau J, Porcu E, Busonero F, Dei M, Lai S, Sole G, Virdis F, Serra V, Poddie F, Delitala A, Marongiu M, Deidda F, Pala M, Floris M, Masala M, Onengut-Gumuscu S, Robertson CC, Leoni L, Frongia A, Ricciardi MR, Chessa M, Olla N, Lovicu M, Loizedda A, Maschio A, Mereu L, Ferrigno P, Curreli N, Balaci L, Loi F, Ferreli LA, Pilia MG, Pani A, Marrosu MG, Abecasis GR, Rich SS, Colhoun H, Todd JA, Schlessinger D, Fiorillo E, Cucca F, Zoledziewska M. Sidore C, et al. Mult Scler. 2021 Aug;27(9):1332-1340. doi: 10.1177/1352458520963937. Epub 2020 Oct 14. Mult Scler. 2021. PMID: 33566725 Free PMC article.
OBJECTIVE: The aim of this study was to determine the function of hypomorph PRF1:p.A91V g.72360387 G > A on multiple sclerosis (MS) and type 1 diabetes (T1D). METHODS: We cross-compare the association data for PRF1:p.A91V mutation derived from GWAS on adult MS an …
OBJECTIVE: The aim of this study was to determine the function of hypomorph PRF1:p.A91V g.72360387 G > A on multiple sclerosis (MS …
Hemophagocytic syndrome in children and adults.
Malinowska I, Machaczka M, Popko K, Siwicka A, Salamonowicz M, Nasiłowska-Adamska B. Malinowska I, et al. Arch Immunol Ther Exp (Warsz). 2014 Oct;62(5):385-94. doi: 10.1007/s00005-014-0274-1. Epub 2014 Feb 9. Arch Immunol Ther Exp (Warsz). 2014. PMID: 24509696 Free PMC article. Review.
Familial Hemophagocytic Lymphohistiocytosis Secondary to PRF1 Mutation.
Alfaraidi AT, Alqarni AA, Aqeel MT, Albalawi TA, Hejazi AS. Alfaraidi AT, et al. Case Rep Hematol. 2021 Dec 29;2021:7213939. doi: 10.1155/2021/7213939. eCollection 2021. Case Rep Hematol. 2021. PMID: 35003815 Free PMC article.
A pathogenic homozygous missense mutation (c.1081A > T p.(Arg361Trp)) in the PRF1 gene was detected by whole exome sequencing (WES). The brain and the whole spine MRI showed leptomeningeal enhancement at different levels involving both the brain and the spine. ...
A pathogenic homozygous missense mutation (c.1081A > T p.(Arg361Trp)) in the PRF1 gene was detected by whole exome sequencing (WES …
Familial Hemophagocytic Lymphohistiocytosis.
Zhang K, Astigarraga I, Bryceson Y, Lehmberg K, Machowicz R, Marsh R, Sieni E, Wang Z, Nichols KE. Zhang K, et al. 2006 Mar 22 [updated 2021 Sep 30]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2006 Mar 22 [updated 2021 Sep 30]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301617 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Familial hemophagocytic lymphohistiocytosis (fHLH), defined as the presence of biallelic pathogenic variants in one of four genes (PRF1, STX11, STXBP2, or UNC13D), is an immune deficiency characterized by the overactivation and excessive prolifera …
CLINICAL CHARACTERISTICS: Familial hemophagocytic lymphohistiocytosis (fHLH), defined as the presence of biallelic pathogenic variants in on …
Primary Immunodeficiencies Associated with EBV Disease.
Cohen JI. Cohen JI. Curr Top Microbiol Immunol. 2015;390(Pt 1):241-65. doi: 10.1007/978-3-319-22822-8_10. Curr Top Microbiol Immunol. 2015. PMID: 26424649 Free PMC article. Review.
Mutations in three genes associated with hemophagocytic lymphohistocytosis, PRF1, STXBP2, and UNC13D, can also predispose to severe chronic active EBV disease. ...
Mutations in three genes associated with hemophagocytic lymphohistocytosis, PRF1, STXBP2, and UNC13D, can also predispose to severe c …
615 results