126 related articles for article (PubMed ID: 36041693)
1. Recurrent tandem duplication of UNC13D in familial hemophagocytic lymphohistiocytosis type 3.
Tomomasa D; Hiejima E; Miyamoto T; Tanita K; Matsuoka M; Niizato D; Mitsuiki N; Isoda T; Yasumi T; van Zelm MC; Morio T; Kanegane H
Clin Immunol; 2022 Sep; 242():109104. PubMed ID: 36041693
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosis.
Liao CH; Lee NC; Jou ST; Chiang BL; Yu HH
J Microbiol Immunol Infect; 2020 Dec; 53(6):1039-1041. PubMed ID: 32327331
[No Abstract] [Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. 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]
18. [Analysis of clinical phenotype and genetic variant in a case of familial hemophagocytic lymphohistiocytosis type Ⅲ].
Wang Y; Luo Q; Tian P; Liu Y; Wang H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jun; 39(6):616-620. PubMed ID: 35773766
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. [Type III familial hemophagocytic lymphohistiocytosis susceptibility gene UNC13D involves in homologous recombination repair].
Chang LX; Zeng HM; Zhou QQ; Gao M; Wei W; Zhou JF; An WB; Yuan WP; Zhu XF
Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2013 Jun; 21(3):692-5. PubMed ID: 23815924
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
