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.
179 related articles for article (PubMed ID: 32582217)
21. 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]
22. Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders. Krzewski K; Cullinane AR Exp Cell Res; 2013 Sep; 319(15):2360-7. PubMed ID: 23810987 [TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. 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]
26. 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]
27. Munc13-4 is a limiting factor in the pathway required for platelet granule release and hemostasis. Ren Q; Wimmer C; Chicka MC; Ye S; Ren Y; Hughson FM; Whiteheart SW Blood; 2010 Aug; 116(6):869-77. PubMed ID: 20435885 [TBL] [Abstract][Full Text] [Related]
31. A unique SNARE machinery for exocytosis of cytotoxic granules and platelets granules. Tang BL Mol Membr Biol; 2015; 32(4):120-6. PubMed ID: 26508555 [TBL] [Abstract][Full Text] [Related]
32. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Feldmann J; Callebaut I; Raposo G; Certain S; Bacq D; Dumont C; Lambert N; Ouachée-Chardin M; Chedeville G; Tamary H; Minard-Colin V; Vilmer E; Blanche S; Le Deist F; Fischer A; de Saint Basile G Cell; 2003 Nov; 115(4):461-73. PubMed ID: 14622600 [TBL] [Abstract][Full Text] [Related]
33. 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]
34. 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]