These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

221 related articles for article (PubMed ID: 19487666)

  • 1. Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer.
    Chia J; Yeo KP; Whisstock JC; Dunstone MA; Trapani JA; Voskoboinik I
    Proc Natl Acad Sci U S A; 2009 Jun; 106(24):9809-14. PubMed ID: 19487666
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.
    Nagai K; Yamamoto K; Fujiwara H; An J; Ochi T; Suemori K; Yasumi T; Tauchi H; Koh K; Sato M; Morimoto A; Heike T; Ishii E; Yasukawa M
    PLoS One; 2010 Nov; 5(11):e14173. PubMed ID: 21152410
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection.
    Mancebo E; Allende LM; Guzmán M; Paz-Artal E; Gil J; Urrea-Moreno R; Fernández-Cruz E; Gayà A; Calvo J; Arbós A; Durán MA; Canet R; Balanzat J; Udina MA; Vercher FJ
    Haematologica; 2006 Sep; 91(9):1257-60. PubMed ID: 16956828
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
    Zur Stadt U; Beutel K; Kolberg S; Schneppenheim R; Kabisch H; Janka G; Hennies HC
    Hum Mutat; 2006 Jan; 27(1):62-8. PubMed ID: 16278825
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Human perforin gene variation is geographically distributed.
    Willenbring RC; Ikeda Y; Pease LR; Johnson AJ
    Mol Genet Genomic Med; 2018 Jan; 6(1):44-55. PubMed ID: 29216683
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Finding a Balance between Protection and Pathology: The Dual Role of Perforin in Human Disease.
    Willenbring RC; Johnson AJ
    Int J Mol Sci; 2017 Jul; 18(8):. PubMed ID: 28757574
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Infective, neoplastic, and homeostatic sequelae of the loss of perforin function in humans.
    Trapani JA; Voskoboinik I
    Adv Exp Med Biol; 2007; 601():235-42. PubMed ID: 17713010
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Familial haemophagocytic lymphohistiocytosis caused by perforin deficit can be successfully treated by haematopoietic stem cell transplantation--the first diagnosed case in the Czech Republic].
    Spísek R; Mejstríková E; Formánková R; Zizková H; Vávra V; Hrusák O; Sedivá A; Sedlácek P; Starý J
    Cas Lek Cesk; 2006; 145(1):50-4. PubMed ID: 16468242
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.
    Göransdotter Ericson K; Fadeel B; Nilsson-Ardnor S; Söderhäll C; Samuelsson A; Janka G; Schneider M; Gürgey A; Yalman N; Révész T; Egeler R; Jahnukainen K; Storm-Mathiesen I; Haraldsson A; Poole J; de Saint Basile G; Nordenskjöld M; Henter J
    Am J Hum Genet; 2001 Mar; 68(3):590-7. PubMed ID: 11179007
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.
    Rudd E; Bryceson YT; Zheng C; Edner J; Wood SM; Ramme K; Gavhed S; Gürgey A; Hellebostad M; Bechensteen AG; Ljunggren HG; Fadeel B; Nordenskjöld M; Henter JI
    J Med Genet; 2008 Mar; 45(3):134-41. PubMed ID: 17993578
    [TBL] [Abstract][Full Text] [Related]  

  • 15. IL-2 consumption by highly activated CD8 T cells induces regulatory T-cell dysfunction in patients with hemophagocytic lymphohistiocytosis.
    Humblet-Baron S; Franckaert D; Dooley J; Bornschein S; Cauwe B; Schönefeldt S; Bossuyt X; Matthys P; Baron F; Wouters C; Liston A
    J Allergy Clin Immunol; 2016 Jul; 138(1):200-209.e8. PubMed ID: 26947179
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Novel spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis in ethnic Omani patients.
    Muralitharan S; Wali YA; Dennison D; Lamki ZA; Zachariah M; Nagwa el B; Pathare A; Krishnamoorthy R
    Am J Hematol; 2007 Dec; 82(12):1099-102. PubMed ID: 17674359
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations.
    Okur H; Balta G; Akarsu N; Oner A; Patiroglu T; Bay A; Sayli T; Unal S; Gurgey A
    Leuk Res; 2008 Jun; 32(6):972-5. PubMed ID: 18190960
    [TBL] [Abstract][Full Text] [Related]  

  • 20. ST2 contributes to T-cell hyperactivation and fatal hemophagocytic lymphohistiocytosis in mice.
    Rood JE; Rao S; Paessler M; Kreiger PA; Chu N; Stelekati E; Wherry EJ; Behrens EM
    Blood; 2016 Jan; 127(4):426-35. PubMed ID: 26518437
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.