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 *

139 related articles for article (PubMed ID: 29549174)

  • 21. Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes.
    Yamamoto K; Ishii E; Sako M; Ohga S; Furuno K; Suzuki N; Ueda I; Imayoshi M; Yamamoto S; Morimoto A; Takada H; Hara T; Imashuku S; Sasazuki T; Yasukawa M
    J Med Genet; 2004 Oct; 41(10):763-7. PubMed ID: 15466010
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Munc13-4 deficiency with CD5 downregulation on activated CD8+ T cells.
    Wada T; Yasumi T; Toma T; Hori M; Maeda S; Umeda K; Heike T; Adachi S; Usami I; Yachie A
    Pediatr Int; 2014 Aug; 56(4):605-8. PubMed ID: 25252047
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3.
    Nagaraj CB; Brightman DS; Rea H; Wakefield E; Harkavy NVG; Dyer L; Zhang W
    BMC Pediatr; 2024 Jan; 24(1):34. PubMed ID: 38212754
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3.
    Santoro A; Cannella S; Trizzino A; Bruno G; De Fusco C; Notarangelo LD; Pende D; Griffiths GM; Aricò M
    Haematologica; 2008 Jul; 93(7):1086-90. PubMed ID: 18492689
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Familial haemophagocytosis lymphohisticytosis type 3: A case report.
    Kamoun F; Hsairi M; Grandin V; Ben Ameur S; De Saint Basile G; Hachicha M
    Arch Pediatr; 2017 Jan; 24(1):33-35. PubMed ID: 27914778
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. 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]  

  • 29. Gene editing of hematopoietic stem cells restores T-cell response in familial hemophagocytic lymphohistiocytosis.
    Dettmer-Monaco V; Weißert K; Ammann S; Monaco G; Lei L; Gräßel L; Rhiel M; Rositzka J; Kaufmann MM; Geiger K; Andrieux G; Lao J; Thoulass G; Schell C; Boerries M; Illert AL; Cornu TI; Ehl S; Aichele P; Cathomen T
    J Allergy Clin Immunol; 2024 Jan; 153(1):243-255.e14. PubMed ID: 37595758
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [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]  

  • 31. 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]  

  • 32. 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]  

  • 33. 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]  

  • 34. Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease.
    Marcenaro S; Gallo F; Martini S; Santoro A; Griffiths GM; Aricó M; Moretta L; Pende D
    Blood; 2006 Oct; 108(7):2316-23. PubMed ID: 16778144
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. 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]  

  • 37. 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]  

  • 38. 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]  

  • 39. Jinx, an MCMV susceptibility phenotype caused by disruption of Unc13d: a mouse model of type 3 familial hemophagocytic lymphohistiocytosis.
    Crozat K; Hoebe K; Ugolini S; Hong NA; Janssen E; Rutschmann S; Mudd S; Sovath S; Vivier E; Beutler B
    J Exp Med; 2007 Apr; 204(4):853-63. PubMed ID: 17420270
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Gene transfer into hematopoietic stem cells reduces HLH manifestations in a murine model of Munc13-4 deficiency.
    Soheili T; Durand A; Sepulveda FE; Rivière J; Lagresle-Peyrou C; Sadek H; de Saint Basile G; Martin S; Mavilio F; Cavazzana M; André-Schmutz I
    Blood Adv; 2017 Dec; 1(27):2781-2789. PubMed ID: 29296930
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.