95 related articles for article (PubMed ID: 21182842)
1. 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]
2. 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]
3. Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3.
Entesarian M; Chiang SC; Schlums H; Meeths M; Chan MY; Mya SN; Soh SY; Nordenskjöld M; Henter JI; Bryceson YT
Br J Haematol; 2013 Aug; 162(3):415-8. PubMed ID: 23672263
[No 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. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. Correlation between phenotypic heterogeneity and gene mutational characteristics in familial hemophagocytic lymphohistiocytosis (FHL).
Ueda I; Ishii E; Morimoto A; Ohga S; Sako M; Imashuku S
Pediatr Blood Cancer; 2006 Apr; 46(4):482-8. PubMed ID: 16365863
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Mutations of the hemophagocytic lymphohistiocytosis-associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis.
Hazen MM; Woodward AL; Hofmann I; Degar BA; Grom A; Filipovich AH; Binstadt BA
Arthritis Rheum; 2008 Feb; 58(2):567-70. PubMed ID: 18240215
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. Fatal sibling cases of familial hemophagocytic lymphohistiocytosis (FHL) with MUNC13-4 mutations: case reports.
Nakao T; Shimizu T; Fukushima T; Saito M; Okamoto M; Sugiura M; Yamamoto K; Ueda I; Imashuku S; Kobayashi C; Koike K; Tsuchida M; Sumazaki R; Matsui A
Pediatr Hematol Oncol; 2008; 25(3):171-80. PubMed ID: 18432499
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Familial hemophagocytic lymphohistiocytosis in a 6-week-old male infant.
Jakovljević G; Kardum-Skelin I; Rogosić S; Culić S; Stepan J; Gagro A; Skarić I; Mikecin L; Bonevski A; Barisić I; Nakić M
Coll Antropol; 2010 Jun; 34(2):631-4. PubMed ID: 20698142
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
Sieni E; Cetica V; Santoro A; Beutel K; Mastrodicasa E; Meeths M; Ciambotti B; Brugnolo F; zur Stadt U; Pende D; Moretta L; Griffiths GM; Henter JI; Janka G; Aricò M
J Med Genet; 2011 May; 48(5):343-52. PubMed ID: 21248318
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
