BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

124 related articles for article (PubMed ID: 38084697)

  • 1. A Case of Fetal Familial Hemophagocytic Lymphohistiocytosis Type 5 caused by STXBP2 Gene Mutation.
    Fu C; Wen R; Zhou J; Hu J; Liu X
    Clin Lab; 2023 Dec; 69(12):. PubMed ID: 38084697
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia.
    Esmaeilzadeh H; Bemanian MH; Nabavi M; Arshi S; Fallahpour M; Fuchs I; zur Stadt U; Warnatz K; Ammann S; Ehl S; Lehmberg K; Rezaei N
    J Clin Immunol; 2015 Jan; 35(1):22-5. PubMed ID: 25491289
    [TBL] [Abstract][Full Text] [Related]  

  • 4.
    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]  

  • 5. 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]  

  • 6. Familial hemophagocytic lymphohistiocytosis type 5 in a Chinese Tibetan patient caused by a novel compound heterozygous mutation in STXBP2.
    Tang X; Guo X; Li Q; Huang Z
    Medicine (Baltimore); 2019 Oct; 98(43):e17674. PubMed ID: 31651895
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Intrinsic defects in erythroid cells from familial hemophagocytic lymphohistiocytosis type 5 patients identify a role for STXBP2/Munc18-2 in erythropoiesis and phospholipid scrambling.
    Kostova EB; Beuger BM; Veldthuis M; van der Werff Ten Bosch J; Kühnle I; van den Akker E; van den Berg TK; van Zwieten R; van Bruggen R
    Exp Hematol; 2015 Dec; 43(12):1072-1076.e2. PubMed ID: 26320718
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Different Clinical Presentation of 3 Children With Familial Hemophagocytic Lymphohistiocytosis With 2 Novel Mutations.
    Akyol S; Ozcan A; Sekine T; Chiang SCC; Yilmaz E; Karakurkcu M; Patiroglu T; Bryceson Y; Unal E
    J Pediatr Hematol Oncol; 2020 Oct; 42(7):e627-e629. PubMed ID: 31651726
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding.
    Fager Ferrari M; Leinoe E; Rossing M; Norström E; Strandberg K; Steen Sejersen T; Qvortrup K; Zetterberg E
    Platelets; 2018 Jan; 29(1):56-64. PubMed ID: 28399723
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Exome sequencing detected an extremely rare case of foetal onset familial haemophagocytic lymphohistiocytosis type 5 presenting with hydrops foetalis.
    Thadchanamoorthy V; Jayatunga MTR; Dayasiri K; Jasinge E; Jinnah MLM; Pereira C; Skrahina V; Thirukumar M
    BMC Med Genomics; 2021 Feb; 14(1):50. PubMed ID: 33593331
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.
    zur Stadt U; Rohr J; Seifert W; Koch F; Grieve S; Pagel J; Strauss J; Kasper B; Nürnberg G; Becker C; Maul-Pavicic A; Beutel K; Janka G; Griffiths G; Ehl S; Hennies HC
    Am J Hum Genet; 2009 Oct; 85(4):482-92. PubMed ID: 19804848
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Familial Hemophagocytic Lymphohistiocytosis secondary to UNC13D mutation: a report of two cases.
    Sadeghi P; Esslami GG; Rokni-Zadeh H; Changi-Ashtiani M; Mohsenipour R
    BMC Pediatr; 2022 Nov; 22(1):667. PubMed ID: 36401200
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations.
    Stepensky P; Bartram J; Barth TF; Lehmberg K; Walther P; Amann K; Philips AD; Beringer O; Zur Stadt U; Schulz A; Amrolia P; Weintraub M; Debatin KM; Hoenig M; Posovszky C
    Pediatr Blood Cancer; 2013 Jul; 60(7):1215-22. PubMed ID: 23382066
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutations.
    Zhao XW; Gazendam RP; Drewniak A; van Houdt M; Tool AT; van Hamme JL; Kustiawan I; Meijer AB; Janssen H; Russell DG; van de Corput L; Tesselaar K; Boelens JJ; Kuhnle I; Van Der Werff Ten Bosch J; Kuijpers TW; van den Berg TK
    Blood; 2013 Jul; 122(1):109-11. PubMed ID: 23687090
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.