BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

214 related articles for article (PubMed ID: 25975970)

  • 1. A novel pathogenic variant in PRF1 associated with hemophagocytic lymphohistiocytosis.
    Romero CA; Sánchez IP; Gutierrez-Hincapié S; Álvarez-Álvarez JA; Pereañez JA; Ochoa R; Muskus-López CE; Eraso RG; Echeverry C; Arango C; Restrepo JL; Trujillo-Vargas CM
    J Clin Immunol; 2015 Jul; 35(5):501-11. PubMed ID: 25975970
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Down-regulation of CD5 expression on activated CD8+ T cells in familial hemophagocytic lymphohistiocytosis with perforin gene mutations.
    Wada T; Sakakibara Y; Nishimura R; Toma T; Ueno Y; Horita S; Tanaka T; Nishi M; Kato K; Yasumi T; Ohara O; Yachie A
    Hum Immunol; 2013 Dec; 74(12):1579-85. PubMed ID: 24051121
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHL) patients in India.
    Mhatre S; Madkaikar M; Desai M; Ghosh K
    Blood Cells Mol Dis; 2015 Mar; 54(3):250-7. PubMed ID: 25577959
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Expression of porforin and granzyme B in familial hemophagocytic lymphohistiocytosis].
    Zhou XH; Luo JM; Bin Q; Huang XH
    Zhonghua Xue Ye Xue Za Zhi; 2016 Mar; 37(3):227-32. PubMed ID: 27033761
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Correlation between phenotypic heterogeneity and gene mutational characteristics in familial hemophagocytic lymphohistiocytosis (FHL).
    Ueda I; Ishii E; Morimoto A; Ohga S; Sako M; Imashuku S
    Pediatr Blood Cancer; 2006 Apr; 46(4):482-8. PubMed ID: 16365863
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Functional impact of A91V mutation of the PRF1 perforin gene.
    Martínez-Pomar N; Lanio N; Romo N; Lopez-Botet M; Matamoros N
    Hum Immunol; 2013 Jan; 74(1):14-7. PubMed ID: 23073290
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions.
    Ishii E; Ueda I; Shirakawa R; Yamamoto K; Horiuchi H; Ohga S; Furuno K; Morimoto A; Imayoshi M; Ogata Y; Zaitsu M; Sako M; Koike K; Sakata A; Takada H; Hara T; Imashuku S; Sasazuki T; Yasukawa M
    Blood; 2005 May; 105(9):3442-8. PubMed ID: 15632205
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations.
    Ueda I; Kurokawa Y; Koike K; Ito S; Sakata A; Matsumora T; Fukushima T; Morimoto A; Ishii E; Imashuku S
    Am J Hematol; 2007 Jun; 82(6):427-32. PubMed ID: 17266056
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Perforin gene analaysis in an Iranian family with familial hemophagocytic lymphohistiocytosis.
    Galehdari H; Mohammadi E; Andashti B; Naderi A; Molavi MA
    Iran J Immunol; 2007 Jun; 4(2):122-6. PubMed ID: 17652853
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis.
    Gao L; Dang X; Huang L; Zhu L; Fang M; Zhang J; Xu X; Zhu L; Li T; Zhao L; Wei J; Zhou J
    Transl Res; 2016 Apr; 170():26-39. PubMed ID: 26739415
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.
    Trizzino A; zur Stadt U; Ueda I; Risma K; Janka G; Ishii E; Beutel K; Sumegi J; Cannella S; Pende D; Mian A; Henter JI; Griffiths G; Santoro A; Filipovich A; Aricò M;
    J Med Genet; 2008 Jan; 45(1):15-21. PubMed ID: 17873118
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Accuracy of flow cytometric perforin screening for detecting patients with FHL due to PRF1 mutations.
    Abdalgani M; Filipovich AH; Choo S; Zhang K; Gifford C; Villanueva J; Bleesing JJ; Marsh RA
    Blood; 2015 Oct; 126(15):1858-60. PubMed ID: 26450956
    [No Abstract]   [Full Text] [Related]  

  • 13. Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH.
    Rubin TS; Zhang K; Gifford C; Lane A; Choo S; Bleesing JJ; Marsh RA
    Blood; 2017 Jun; 129(22):2993-2999. PubMed ID: 28270454
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations.
    Tesi B; Chiang SC; El-Ghoneimy D; Hussein AA; Langenskiöld C; Wali R; Fadoo Z; Silva JP; Lecumberri R; Unal S; Nordenskjöld M; Bryceson YT; Henter JI; Meeths M
    Pediatr Blood Cancer; 2015 Dec; 62(12):2094-100. PubMed ID: 26184781
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry.
    Cetica V; Sieni E; Pende D; Danesino C; De Fusco C; Locatelli F; Micalizzi C; Putti MC; Biondi A; Fagioli F; Moretta L; Griffiths GM; Luzzatto L; Aricò M
    J Allergy Clin Immunol; 2016 Jan; 137(1):188-196.e4. PubMed ID: 26342526
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India.
    Shabrish S; Kelkar M; Yadav RM; Bargir UA; Gupta M; Dalvi A; Aluri J; Kulkarni M; Shinde S; Sawant-Desai S; Kambli P; Hule G; Setia P; Jodhawat N; Gaikwad P; Dhawale A; Nambiar N; Gowri V; Pandrowala A; Taur P; Raj R; Uppuluri R; Sharma R; Kini P; Sivasankaran M; Munirathnam D; Vedam R; Vignesh P; Banday A; Rawat A; Aggarwal A; Poddar U; Girish M; Chaudhary A; Sampagar A; Jayaraman D; Chaudhary N; Shah N; Jijina F; Chandrakla S; Kanakia S; Arora B; Sen S; Lokeshwar M; Desai M; Madkaikar M
    Front Immunol; 2021; 12():612583. PubMed ID: 33746956
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.
    An O; Gursoy A; Gurgey A; Keskin O
    Protein Sci; 2013 Jun; 22(6):823-39. PubMed ID: 23592409
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Perforin gene mutation in familial haemophagocytic lymphohistiocytosis: the first reported case from Hong Kong.
    Chiang GP; Li CK; Lee V; Cheng FW; Leung AW; Imashuku S; Imamura T; Shing MM
    Hong Kong Med J; 2014 Aug; 20(4):339-42. PubMed ID: 25104007
    [TBL] [Abstract][Full Text] [Related]  

  • 19. First case of very late-onset FHL2 in Spain with two variants in the PRF1 gene.
    Sienes Bailo P; Goñi Ros N; Menéndez Jándula B; Álvarez Alegret R; González Gómez E; González Tarancón R; Izquierdo Álvarez S
    Ann Clin Biochem; 2023 Sep; 60(5):356-364. PubMed ID: 37365821
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis.
    Lu G; Xie ZD; Shen KL; Ye LJ; Wu RH; Liu CY; Jin YK; Yang S
    Chin Med J (Engl); 2009 Dec; 122(23):2851-5. PubMed ID: 20092789
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.