207 related articles for article (PubMed ID: 31770233)
1. Familial hemophagocytic lymphohistiocytosis in a girl with a novel homozygous mutation of STX11: A case report.
Guo X; Jiang M; Tang X; Li Q
Medicine (Baltimore); 2019 Nov; 98(48):e18107. PubMed ID: 31770233
[TBL] [Abstract][Full Text] [Related]
2. Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4).
Macartney CA; Weitzman S; Wood SM; Bansal D; Steele M; Meeths M; Abdelhaleem M; Bryceson YT
Pediatr Blood Cancer; 2011 Apr; 56(4):654-7. PubMed ID: 21298754
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America.
Marsh RA; Satake N; Biroschak J; Jacobs T; Johnson J; Jordan MB; Bleesing JJ; Filipovich AH; Zhang K
Pediatr Blood Cancer; 2010 Jul; 55(1):134-40. PubMed ID: 20486178
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Familial Hemophagocytic Lymphohistiocytosis secondary to UNC13D mutation: a report of two cases.
Sadeghi P; Esslami GG; Rokni-Zadeh H; Changi-Ashtiani M; Mohsenipour R
BMC Pediatr; 2022 Nov; 22(1):667. PubMed ID: 36401200
[TBL] [Abstract][Full Text] [Related]
8. A Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis.
Sultanova AK; Kim SK; Lee JW; Jang PS; Chung NG; Cho B; Park J; Kim Y; Kim M
Ann Lab Med; 2016 Mar; 36(2):170-3. PubMed ID: 26709266
[TBL] [Abstract][Full Text] [Related]
9. Hemophagocytic lymphohistiocytosis in syntaxin-11-deficient mice: T-cell exhaustion limits fatal disease.
Kögl T; Müller J; Jessen B; Schmitt-Graeff A; Janka G; Ehl S; zur Stadt U; Aichele P
Blood; 2013 Jan; 121(4):604-13. PubMed ID: 23190531
[TBL] [Abstract][Full Text] [Related]
10.
Benavides N; Spessott WA; Sanmillan ML; Vargas M; Livingston MS; Erickson N; Pozos TC; McCormick ME; Scharrig E; Messinger YH; Giraudo CG
Front Immunol; 2020; 11():545414. PubMed ID: 33162974
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Fatal Epstein-Barr virus infection in a case of familial hemophagocytic lymphohistiocytosis with syntaxin-11 mutation.
Albayrak M; Kaya Z; Yilmaz-Keskin E; Stadt UZ; Koçak U; Gürsel T
Turk J Pediatr; 2009; 51(4):371-4. PubMed ID: 19950846
[TBL] [Abstract][Full Text] [Related]
13. Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion.
Spessott WA; Sanmillan ML; McCormick ME; Patel N; Villanueva J; Zhang K; Nichols KE; Giraudo CG
Blood; 2015 Mar; 125(10):1566-77. PubMed ID: 25564401
[TBL] [Abstract][Full Text] [Related]
14. A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis.
Bordbar MR; Modarresi F; Farazi Fard MA; Dastsooz H; Shakib Azad N; Faghihi MA
BMC Med Genet; 2017 May; 18(1):49. PubMed ID: 28468610
[TBL] [Abstract][Full Text] [Related]
15. Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients.
Bryceson YT; Rudd E; Zheng C; Edner J; Ma D; Wood SM; Bechensteen AG; Boelens JJ; Celkan T; Farah RA; Hultenby K; Winiarski J; Roche PA; Nordenskjöld M; Henter JI; Long EO; Ljunggren HG
Blood; 2007 Sep; 110(6):1906-15. PubMed ID: 17525286
[TBL] [Abstract][Full Text] [Related]
16. Hemophagocytic lymphohistiocytosis in infants: a single center experience from India.
Ramzan M; Yadav SP; Kharya G; Chinnabhandar V; Enteserian M; Henter JI; Sachdeva A
Pediatr Hematol Oncol; 2014 Apr; 31(3):285-92. PubMed ID: 24383954
[TBL] [Abstract][Full Text] [Related]
17. Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies.
Rudd E; Göransdotter Ericson K; Zheng C; Uysal Z; Ozkan A; Gürgey A; Fadeel B; Nordenskjöld M; Henter JI
J Med Genet; 2006 Apr; 43(4):e14. PubMed ID: 16582076
[TBL] [Abstract][Full Text] [Related]
18. Novel syntaxin 11 gene (STX11) mutation in three Argentinean patients with hemophagocytic lymphohistiocytosis.
Danielian S; Basile N; Rocco C; Prieto E; Rossi J; Barsotti D; Roche PA; Bernasconi A; Oleastro M; Zelazko M; Braier J
J Clin Immunol; 2010 Mar; 30(2):330-7. PubMed ID: 19967551
[TBL] [Abstract][Full Text] [Related]
19. A novel perforin gene mutation in a Japanese family with hemophagocytic lymphohistiocytosis.
Ueda I; Kohdera U; Hibi S; Inaba T; Yamamoto K; Sugimoto T; Morimoto A; Ishii E; Imashuku S
Int J Hematol; 2006 Jan; 83(1):51-4. PubMed ID: 16443553
[TBL] [Abstract][Full Text] [Related]
20. Familial hemophagocytic lymphohistiocytosis type 5 in a Chinese Tibetan patient caused by a novel compound heterozygous mutation in STXBP2.
Tang X; Guo X; Li Q; Huang Z
Medicine (Baltimore); 2019 Oct; 98(43):e17674. PubMed ID: 31651895
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
