BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

209 related articles for article (PubMed ID: 20798128)

  • 1. STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.
    Cetica V; Santoro A; Gilmour KC; Sieni E; Beutel K; Pende D; Marcenaro S; Koch F; Grieve S; Wheeler R; Zhao F; zur Stadt U; Griffiths GM; Aricò M
    J Med Genet; 2010 Sep; 47(9):595-600. PubMed ID: 20798128
    [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.
    Benavides N; Spessott WA; Sanmillan ML; Vargas M; Livingston MS; Erickson N; Pozos TC; McCormick ME; Scharrig E; Messinger YH; Giraudo CG
    Front Immunol; 2020; 11():545414. PubMed ID: 33162974
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.
    Côte M; Ménager MM; Burgess A; Mahlaoui N; Picard C; Schaffner C; Al-Manjomi F; Al-Harbi M; Alangari A; Le Deist F; Gennery AR; Prince N; Cariou A; Nitschke P; Blank U; El-Ghazali G; Ménasché G; Latour S; Fischer A; de Saint Basile G
    J Clin Invest; 2009 Dec; 119(12):3765-73. PubMed ID: 19884660
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.
    Rohr J; Beutel K; Maul-Pavicic A; Vraetz T; Thiel J; Warnatz K; Bondzio I; Gross-Wieltsch U; Schündeln M; Schütz B; Woessmann W; Groll AH; Strahm B; Pagel J; Speckmann C; Janka G; Griffiths G; Schwarz K; zur Stadt U; Ehl S
    Haematologica; 2010 Dec; 95(12):2080-7. PubMed ID: 20823128
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2.
    Seo JY; Lee KO; Yoo KH; Sung KW; Koo HH; Kim SH; Kang HJ; Park KD; Shin HY; Baek HJ; Kook H; Lyu CJ; Song JS; Lee MJ; Kim JY; Lim YT; Koh KN; Im HJ; Seo JJ; Kim HJ;
    Clin Genet; 2016 Feb; 89(2):222-7. PubMed ID: 26451869
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion.
    Spessott WA; Sanmillan ML; McCormick ME; Patel N; Villanueva J; Zhang K; Nichols KE; Giraudo CG
    Blood; 2015 Mar; 125(10):1566-77. PubMed ID: 25564401
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.
    Meeths M; Entesarian M; Al-Herz W; Chiang SC; Wood SM; Al-Ateeqi W; Almazan F; Boelens JJ; Hasle H; Ifversen M; Lund B; van den Berg JM; Gustafsson B; Hjelmqvist H; Nordenskjöld M; Bryceson YT; Henter JI
    Blood; 2010 Oct; 116(15):2635-43. PubMed ID: 20558610
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel STXBP2 mutation causing familial hemophagocytic lymphohistiocytosis.
    Jain R; Puliyel M; Moses PD; Sieni E
    Indian Pediatr; 2012 Jun; 49(6):488-90. PubMed ID: 22796692
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity.
    Viñas-Giménez L; Donadeu L; Alsina L; Rincón R; de la Campa EÁ; Esteve-Sole A; Català A; Colobran R; de la Cruz X; Sayós J; Martínez-Gallo M
    Int J Hematol; 2020 Mar; 111(3):440-450. PubMed ID: 31865540
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5).
    Pagel J; Beutel K; Lehmberg K; Koch F; Maul-Pavicic A; Rohlfs AK; Al-Jefri A; Beier R; Bomme Ousager L; Ehlert K; Gross-Wieltsch U; Jorch N; Kremens B; Pekrun A; Sparber-Sauer M; Mejstrikova E; Wawer A; Ehl S; zur Stadt U; Janka G
    Blood; 2012 Jun; 119(25):6016-24. PubMed ID: 22451424
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis.
    Viñas-Giménez L; Rincón R; Colobran R; de la Cruz X; Celis VP; Dapena JL; Alsina L; Sayós J; Martínez-Gallo M
    Front Immunol; 2021; 12():723836. PubMed ID: 34630398
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis.
    Zhang K; Chandrakasan S; Chapman H; Valencia CA; Husami A; Kissell D; Johnson JA; Filipovich AH
    Blood; 2014 Aug; 124(8):1331-4. PubMed ID: 24916509
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing.
    Lopez JA; Noori T; Minson A; Li Jovanoska L; Thia K; Hildebrand MS; Akhlaghi H; Darcy PK; Kershaw MH; Brown NJ; Grigg A; Trapani JA; Voskoboinik I
    Front Immunol; 2018; 9():529. PubMed ID: 29599780
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Screening for cytotoxic defects with flow cytometric detection of CD107α on natural killer cells and cytotoxic lymphocyte cells].
    Wang J; Liu Z; Jiang LP; An YF; Zhao XD
    Zhonghua Er Ke Za Zhi; 2012 May; 50(5):386-91. PubMed ID: 22883044
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.
    Cetica V; Hackmann Y; Grieve S; Sieni E; Ciambotti B; Coniglio ML; Pende D; Gilmour K; Romagnoli P; Griffiths GM; Aricò M
    J Allergy Clin Immunol; 2015 May; 135(5):1310-8.e1. PubMed ID: 25312756
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis.
    Santoro A; Cannella S; Bossi G; Gallo F; Trizzino A; Pende D; Dieli F; Bruno G; Stinchcombe JC; Micalizzi C; De Fusco C; Danesino C; Moretta L; Notarangelo LD; Griffiths GM; Aricò M
    J Med Genet; 2006 Dec; 43(12):953-60. PubMed ID: 16825436
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Angeborene hämophagozytische Lymphohistiozytose (HLH).
    Pachlopnik Schmid J; de Saint Basile G
    Klin Padiatr; 2010 Nov; 222(6):345-50. PubMed ID: 20458667
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical and Genetic Analysis of Nine Suspected Familial Haemophagocytic Lymphohistiocytosis Patients for MUNC13-4 Deficiency and Introducing Four Novel Mutations in UNC13D.
    Vahidi M; Badalzadeh M; Jannesar M; Mazinani M; Fazlollahi MR; Khodayari Namini N; Houshmand M; Hamidieh AA; Moradi L; Pourpak Z; Moin M
    Iran J Allergy Asthma Immunol; 2019 Oct; 18(5):487-492. PubMed ID: 32245292
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.