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 *

106 related articles for article (PubMed ID: 21755595)

  • 1. A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function.
    Elstak ED; te Loo M; Tesselaar K; van Kerkhof P; Loeffen J; Grivas D; Hennekam E; Boelens JJ; Hoogerbrugge PM; van der Sluijs P; van Gijn ME; van de Corput L
    Pediatr Blood Cancer; 2012 Apr; 58(4):598-605. PubMed ID: 21755595
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Alternative
    Galgano D; Soheili T; Voss M; Torralba-Raga L; Tesi B; Cichocki F; Andre I; Rettig J; Cavazzana M; Bryceson Y
    Front Immunol; 2020; 11():1154. PubMed ID: 32582217
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The munc13-4-rab27 complex is specifically required for tethering secretory lysosomes at the plasma membrane.
    Elstak ED; Neeft M; Nehme NT; Voortman J; Cheung M; Goodarzifard M; Gerritsen HC; van Bergen En Henegouwen PM; Callebaut I; de Saint Basile G; van der Sluijs P
    Blood; 2011 Aug; 118(6):1570-8. PubMed ID: 21693760
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection.
    Alsina L; Colobran R; de Sevilla MF; Català A; Viñas L; Ricart S; Plaza AM; Lois S; Juan M; Pujol-Borrell R; Martinez-Gallo M
    Clin Immunol; 2014 Aug; 153(2):292-7. PubMed ID: 24825797
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency.
    Cichocki F; Schlums H; Li H; Stache V; Holmes T; Lenvik TR; Chiang SC; Miller JS; Meeths M; Anderson SK; Bryceson YT
    J Exp Med; 2014 Jun; 211(6):1079-91. PubMed ID: 24842371
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical, immunological and genetic findings in patients with UNC13D deficiency (FHL3): A systematic review.
    Amirifar P; Ranjouri MR; Abolhassani H; Moeini Shad T; Almasi-Hashiani A; Azizi G; Moamer S; Aghamohammadi A; Yazdani R
    Pediatr Allergy Immunol; 2021 Jan; 32(1):186-197. PubMed ID: 32679608
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Characterization of a large UNC13D gene duplication in a patient with familial hemophagocytic lymphohistiocytosis type 3.
    Hiejima E; Shibata H; Yasumi T; Shimodera S; Hori M; Izawa K; Kawai T; Matsuoka M; Kojima Y; Ohara A; Nishikomori R; Ohara O; Heike T
    Clin Immunol; 2018 Jun; 191():63-66. PubMed ID: 29596912
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea.
    Seo JY; Song JS; Lee KO; Won HH; Kim JW; Kim SH; Lee SH; Yoo KH; Sung KW; Koo HH; Kang HJ; Shin HY; Ahn HS; Han DK; Kook H; Hwang TJ; Lyu CJ; Lee MJ; Kim JY; Park SS; Lim YT; Kim BE; Koh KN; Im HJ; Seo JJ; Kim HJ;
    Ann Hematol; 2013 Mar; 92(3):357-64. PubMed ID: 23180437
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis.
    Shibata H; Yasumi T; Shimodera S; Hiejima E; Izawa K; Kawai T; Shirakawa R; Wada T; Nishikomori R; Horiuchi H; Ohara O; Ishii E; Heike T
    Blood; 2018 May; 131(18):2016-2025. PubMed ID: 29549174
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Retroviral
    Dettmer V; Bloom K; Gross M; Weissert K; Aichele P; Ehl S; Cathomen T
    Hum Gene Ther; 2019 Aug; 30(8):975-984. PubMed ID: 31032638
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells.
    Neeft M; Wieffer M; de Jong AS; Negroiu G; Metz CH; van Loon A; Griffith J; Krijgsveld J; Wulffraat N; Koch H; Heck AJ; Brose N; Kleijmeer M; van der Sluijs P
    Mol Biol Cell; 2005 Feb; 16(2):731-41. PubMed ID: 15548590
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A platform for complementation and characterization of familial haemophagocytic lymphohistiocytosis 3 mutations.
    Elstak E; de Jong A; van der Sluijs P
    J Immunol Methods; 2011 Feb; 365(1-2):58-66. PubMed ID: 21182842
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity.
    Wood SM; Meeths M; Chiang SC; Bechensteen AG; Boelens JJ; Heilmann C; Horiuchi H; Rosthøj S; Rutynowska O; Winiarski J; Stow JL; Nordenskjöld M; Henter JI; Ljunggren HG; Bryceson YT
    Blood; 2009 Nov; 114(19):4117-27. PubMed ID: 19704116
    [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. Lentiviral Gene Therapy for Familial Hemophagocytic Lymphohistiocytosis Type 3, Caused by
    Takushi SE; Paik NY; Fedanov A; Prince C; Doering CB; Spencer HT; Chandrakasan S
    Hum Gene Ther; 2020 Jun; 31(11-12):626-638. PubMed ID: 32253931
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A CD57
    Hori M; Yasumi T; Shimodera S; Shibata H; Hiejima E; Oda H; Izawa K; Kawai T; Ishimura M; Nakano N; Shirakawa R; Nishikomori R; Takada H; Morita S; Horiuchi H; Ohara O; Ishii E; Heike T
    J Clin Immunol; 2017 Jan; 37(1):92-99. PubMed ID: 27896523
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D.
    Meeths M; Chiang SC; Wood SM; Entesarian M; Schlums H; Bang B; Nordenskjöld E; Björklund C; Jakovljevic G; Jazbec J; Hasle H; Holmqvist BM; Rajic L; Pfeifer S; Rosthøj S; Sabel M; Salmi TT; Stokland T; Winiarski J; Ljunggren HG; Fadeel B; Nordenskjöld M; Henter JI; Bryceson YT
    Blood; 2011 Nov; 118(22):5783-93. PubMed ID: 21931115
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.
    Qian Y; Johnson JA; Connor JA; Valencia CA; Barasa N; Schubert J; Husami A; Kissell D; Zhang G; Weirauch MT; Filipovich AH; Zhang K
    Pediatr Blood Cancer; 2014 Jun; 61(6):1034-40. PubMed ID: 24470399
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.