135 related articles for article (PubMed ID: 35293882)
1. Familial Hemophagocytic Lymphohistiocytosis With Heterozygous STX11 and Homozygous UNC13D Mutations Diagnosed in the Neonatal Period.
Bahadir A; Kader Ş; Çebi AH; Erduran E; Mutlu M; Aslan Y
J Pediatr Hematol Oncol; 2022 May; 44(4):e866-e868. PubMed ID: 35293882
[TBL] [Abstract][Full Text] [Related]
2. 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]
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. 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]
5. 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]
6. Screening the PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK gene mutations in Chinese children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.
Zhizhuo H; Junmei X; Yuelin S; Qiang Q; Chunyan L; Zhengde X; Kunling S
Pediatr Blood Cancer; 2012 Mar; 58(3):410-4. PubMed ID: 21674762
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11.
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]
12. 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]
13. 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]
14. Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis.
Mukda E; Trachoo O; Pasomsub E; Tiyasirichokchai R; Iemwimangsa N; Sosothikul D; Chantratita W; Pakakasama S
Int J Hematol; 2017 Aug; 106(2):282-290. PubMed ID: 28353193
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
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. 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]
20. 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]
[Next] [New Search]