212 related articles for article (PubMed ID: 34630398)
1. Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis.
Viñas-Giménez L; Rincón R; Colobran R; de la Cruz X; Celis VP; Dapena JL; Alsina L; Sayós J; Martínez-Gallo M
Front Immunol; 2021; 12():723836. PubMed ID: 34630398
[TBL] [Abstract][Full Text] [Related]
2.
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]
3. 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]
4. Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity.
Viñas-Giménez L; Donadeu L; Alsina L; Rincón R; de la Campa EÁ; Esteve-Sole A; Català A; Colobran R; de la Cruz X; Sayós J; Martínez-Gallo M
Int J Hematol; 2020 Mar; 111(3):440-450. PubMed ID: 31865540
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis.
Xinh PT; Chuong HQ; Diem TPH; Nguyen TM; Van ND; Mai Anh NH; Nghia H; Vu HA
Int J Lab Hematol; 2021 Dec; 43(6):1524-1530. PubMed ID: 34339548
[TBL] [Abstract][Full Text] [Related]
7. Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.
Meeths M; Entesarian M; Al-Herz W; Chiang SC; Wood SM; Al-Ateeqi W; Almazan F; Boelens JJ; Hasle H; Ifversen M; Lund B; van den Berg JM; Gustafsson B; Hjelmqvist H; Nordenskjöld M; Bryceson YT; Henter JI
Blood; 2010 Oct; 116(15):2635-43. PubMed ID: 20558610
[TBL] [Abstract][Full Text] [Related]
8. Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP.
Chen X; Wang F; Zhang Y; Teng W; Wang M; Nie D; Zhou X; Wang D; Zhao H; Zhu P; Liu H
Clin Genet; 2018 Aug; 94(2):200-212. PubMed ID: 29665027
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.
Cetica V; Santoro A; Gilmour KC; Sieni E; Beutel K; Pende D; Marcenaro S; Koch F; Grieve S; Wheeler R; Zhao F; zur Stadt U; Griffiths GM; Aricò M
J Med Genet; 2010 Sep; 47(9):595-600. PubMed ID: 20798128
[TBL] [Abstract][Full Text] [Related]
11. Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2.
Seo JY; Lee KO; Yoo KH; Sung KW; Koo HH; Kim SH; Kang HJ; Park KD; Shin HY; Baek HJ; Kook H; Lyu CJ; Song JS; Lee MJ; Kim JY; Lim YT; Koh KN; Im HJ; Seo JJ; Kim HJ;
Clin Genet; 2016 Feb; 89(2):222-7. PubMed ID: 26451869
[TBL] [Abstract][Full Text] [Related]
12. Hemophagocytic Lymphohistiocytosis in Langerhans Cell Histiocytosis: A Case Series and Literature Review.
Tang X; Guo X; Gao J; Sun JJ; Wan Z
J Pediatr Hematol Oncol; 2022 Jan; 44(1):e20-e25. PubMed ID: 34133378
[TBL] [Abstract][Full Text] [Related]
13. Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.
Nagai K; Yamamoto K; Fujiwara H; An J; Ochi T; Suemori K; Yasumi T; Tauchi H; Koh K; Sato M; Morimoto A; Heike T; Ishii E; Yasukawa M
PLoS One; 2010 Nov; 5(11):e14173. PubMed ID: 21152410
[TBL] [Abstract][Full Text] [Related]
14. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.
Côte M; Ménager MM; Burgess A; Mahlaoui N; Picard C; Schaffner C; Al-Manjomi F; Al-Harbi M; Alangari A; Le Deist F; Gennery AR; Prince N; Cariou A; Nitschke P; Blank U; El-Ghazali G; Ménasché G; Latour S; Fischer A; de Saint Basile G
J Clin Invest; 2009 Dec; 119(12):3765-73. PubMed ID: 19884660
[TBL] [Abstract][Full Text] [Related]
15. Novel STXBP2 mutation causing familial hemophagocytic lymphohistiocytosis.
Jain R; Puliyel M; Moses PD; Sieni E
Indian Pediatr; 2012 Jun; 49(6):488-90. PubMed ID: 22796692
[TBL] [Abstract][Full Text] [Related]
16. Langerhans cell histiocytosis complicated with hemophagocytic lymphohistiocytosis in a boy with a novel XIAP mutation: A case report.
Guo X; Li Q; Gao J
Medicine (Baltimore); 2018 Nov; 97(44):e13019. PubMed ID: 30383659
[TBL] [Abstract][Full Text] [Related]
17. Usual and Unusual Manifestations of Familial Hemophagocytic Lymphohistiocytosis and Langerhans Cell Histiocytosis.
Erker C; Harker-Murray P; Talano JA
Pediatr Clin North Am; 2017 Feb; 64(1):91-109. PubMed ID: 27894453
[TBL] [Abstract][Full Text] [Related]
18. A multicenter study of patients with multisystem Langerhans cell histiocytosis who develop secondary hemophagocytic lymphohistiocytosis.
Chellapandian D; Hines MR; Zhang R; Jeng M; van den Bos C; Santa-María López V; Lehmberg K; Sieni E; Wang Y; Nakano T; Williams JA; Fustino NJ; Astigarraga I; Dunkel IJ; Abla O; van Halteren AGS; Pei D; Cheng C; Weitzman S; Sung L; Nichols KE
Cancer; 2019 Mar; 125(6):963-971. PubMed ID: 30521100
[TBL] [Abstract][Full Text] [Related]
19. Hemophagocytic Lymphohistocytosis in the Chinese Han Population May Be Associated with an STXBP2 Gene Polymorphism.
Yang L; Tang Y; Xiao F; Xiong J; Shen K; Liu Y; Zhang W; Zheng L; Zhou J; Xiao M
PLoS One; 2016; 11(8):e0159454. PubMed ID: 27513731
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]