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 *

196 related articles for article (PubMed ID: 27033761)

  • 1. [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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients.
    Bryceson YT; Rudd E; Zheng C; Edner J; Ma D; Wood SM; Bechensteen AG; Boelens JJ; Celkan T; Farah RA; Hultenby K; Winiarski J; Roche PA; Nordenskjöld M; Henter JI; Long EO; Ljunggren HG
    Blood; 2007 Sep; 110(6):1906-15. PubMed ID: 17525286
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.
    Shi Y; Qiao Z; Bi X; Zhang C; Fu J; Jia Y; Yang G
    Pharmgenomics Pers Med; 2021; 14():1637-1645. PubMed ID: 34938098
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China.
    Jin Z; Wang Y; Wang J; Zhang J; Wu L; Gao Z; Lai W; Wang Z
    Orphanet J Rare Dis; 2018 Jan; 13(1):17. PubMed ID: 29357941
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.