BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

145 related articles for article (PubMed ID: 36706356)

  • 1. A cell-based functional assay that accurately links genotype to phenotype in familial HLH.
    Noori T; Rudd-Schmidt JA; Kane A; Frith K; Gray PE; Hu H; Hsu D; Chung CWT; Hodel AW; Trapani JA; Voskoboinik I
    Blood; 2023 May; 141(19):2330-2342. PubMed ID: 36706356
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis.
    Xinh PT; Chuong HQ; Diem TPH; Nguyen TM; Van ND; Mai Anh NH; Nghia H; Vu HA
    Int J Lab Hematol; 2021 Dec; 43(6):1524-1530. PubMed ID: 34339548
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5.
    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]  

  • 6. 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]  

  • 7. Screening the PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK gene mutations in Chinese children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.
    Zhizhuo H; Junmei X; Yuelin S; Qiang Q; Chunyan L; Zhengde X; Kunling S
    Pediatr Blood Cancer; 2012 Mar; 58(3):410-4. PubMed ID: 21674762
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 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. Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.
    Horne A; Ramme KG; Rudd E; Zheng C; Wali Y; al-Lamki Z; Gürgey A; Yalman N; Nordenskjöld M; Henter JI
    Br J Haematol; 2008 Oct; 143(1):75-83. PubMed ID: 18710388
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.
    Zhang K; Jordan MB; Marsh RA; Johnson JA; Kissell D; Meller J; Villanueva J; Risma KA; Wei Q; Klein PS; Filipovich AH
    Blood; 2011 Nov; 118(22):5794-8. PubMed ID: 21881043
    [TBL] [Abstract][Full Text] [Related]  

  • 13. UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis.
    Yoon HS; Kim HJ; Yoo KH; Sung KW; Koo HH; Kang HJ; Shin HY; Ahn HS; Kim JY; Lim YT; Bae KW; Lee KO; Shin JS; Lee ST; Chung HS; Kim SH; Park CJ; Chi HS; Im HJ; Seo JJ
    Haematologica; 2010 Apr; 95(4):622-6. PubMed ID: 20015888
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP.
    Chen X; Wang F; Zhang Y; Teng W; Wang M; Nie D; Zhou X; Wang D; Zhao H; Zhu P; Liu H
    Clin Genet; 2018 Aug; 94(2):200-212. PubMed ID: 29665027
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis.
    Bordbar MR; Modarresi F; Farazi Fard MA; Dastsooz H; Shakib Azad N; Faghihi MA
    BMC Med Genet; 2017 May; 18(1):49. PubMed ID: 28468610
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [The study of gene mutations in unknown refractory viral infection and primary hemophagocytic lymphohistiocytosis].
    Tong CR; Liu HX; Xie JJ; Wang F; Cai P; Wang H; Zhu J; Teng W; Zhang X; Yang JF; Zhang YL; Fei XH; Zhao J; Yin YM; Wu T; Wang JB; Sun Y; Liu R; Shi XD; Lu DP
    Zhonghua Nei Ke Za Zhi; 2011 Apr; 50(4):280-3. PubMed ID: 21600143
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.