167 related articles for article (PubMed ID: 29216683)
1. Human perforin gene variation is geographically distributed.
Willenbring RC; Ikeda Y; Pease LR; Johnson AJ
Mol Genet Genomic Med; 2018 Jan; 6(1):44-55. PubMed ID: 29216683
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Finding a Balance between Protection and Pathology: The Dual Role of Perforin in Human Disease.
Willenbring RC; Johnson AJ
Int J Mol Sci; 2017 Jul; 18(8):. PubMed ID: 28757574
[TBL] [Abstract][Full Text] [Related]
4. Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations.
Tesi B; Chiang SC; El-Ghoneimy D; Hussein AA; Langenskiöld C; Wali R; Fadoo Z; Silva JP; Lecumberri R; Unal S; Nordenskjöld M; Bryceson YT; Henter JI; Meeths M
Pediatr Blood Cancer; 2015 Dec; 62(12):2094-100. PubMed ID: 26184781
[TBL] [Abstract][Full Text] [Related]
5. Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis.
Lu G; Xie ZD; Shen KL; Ye LJ; Wu RH; Liu CY; Jin YK; Yang S
Chin Med J (Engl); 2009 Dec; 122(23):2851-5. PubMed ID: 20092789
[TBL] [Abstract][Full Text] [Related]
6. Perforin gene analaysis in an Iranian family with familial hemophagocytic lymphohistiocytosis.
Galehdari H; Mohammadi E; Andashti B; Naderi A; Molavi MA
Iran J Immunol; 2007 Jun; 4(2):122-6. PubMed ID: 17652853
[TBL] [Abstract][Full Text] [Related]
7. Variations of the perforin gene in patients with type 1 diabetes.
Orilieri E; Cappellano G; Clementi R; Cometa A; Ferretti M; Cerutti E; Cadario F; Martinetti M; Larizza D; Calcaterra V; D'Annunzio G; Lorini R; Cerutti F; Bruno G; Chiocchetti A; Dianzani U
Diabetes; 2008 Apr; 57(4):1078-83. PubMed ID: 18198357
[TBL] [Abstract][Full Text] [Related]
8. Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection.
Mancebo E; Allende LM; Guzmán M; Paz-Artal E; Gil J; Urrea-Moreno R; Fernández-Cruz E; Gayà A; Calvo J; Arbós A; Durán MA; Canet R; Balanzat J; Udina MA; Vercher FJ
Haematologica; 2006 Sep; 91(9):1257-60. PubMed ID: 16956828
[TBL] [Abstract][Full Text] [Related]
9. Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer.
Chia J; Yeo KP; Whisstock JC; Dunstone MA; Trapani JA; Voskoboinik I
Proc Natl Acad Sci U S A; 2009 Jun; 106(24):9809-14. PubMed ID: 19487666
[TBL] [Abstract][Full Text] [Related]
10. Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis.
Nagafuji K; Nonami A; Kumano T; Kikushige Y; Yoshimoto G; Takenaka K; Shimoda K; Ohga S; Yasukawa M; Horiuchi H; Ishii E; Harada M
Haematologica; 2007 Jul; 92(7):978-81. PubMed ID: 17606450
[TBL] [Abstract][Full Text] [Related]
11. Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHL) patients in India.
Mhatre S; Madkaikar M; Desai M; Ghosh K
Blood Cells Mol Dis; 2015 Mar; 54(3):250-7. PubMed ID: 25577959
[TBL] [Abstract][Full Text] [Related]
12. Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.
Göransdotter Ericson K; Fadeel B; Nilsson-Ardnor S; Söderhäll C; Samuelsson A; Janka G; Schneider M; Gürgey A; Yalman N; Révész T; Egeler R; Jahnukainen K; Storm-Mathiesen I; Haraldsson A; Poole J; de Saint Basile G; Nordenskjöld M; Henter J
Am J Hum Genet; 2001 Mar; 68(3):590-7. PubMed ID: 11179007
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis.
Gao L; Dang X; Huang L; Zhu L; Fang M; Zhang J; Xu X; Zhu L; Li T; Zhao L; Wei J; Zhou J
Transl Res; 2016 Apr; 170():26-39. PubMed ID: 26739415
[TBL] [Abstract][Full Text] [Related]
16. Fatal immune dysregulation due to a gain of glycosylation mutation in lymphocyte perforin.
Chia J; Thia K; Brennan AJ; Little M; Williams B; Lopez JA; Trapani JA; Voskoboinik I
Blood; 2012 Feb; 119(7):1713-6. PubMed ID: 22186995
[TBL] [Abstract][Full Text] [Related]
17. Unusual clinical presentations of familial hemophagocytic lymphohistiocytosis type-2.
Mhatre S; Madkaikar M; Jijina F; Ghosh K
J Pediatr Hematol Oncol; 2014 Nov; 36(8):e524-7. PubMed ID: 24390453
[TBL] [Abstract][Full Text] [Related]
18. First case of very late-onset FHL2 in Spain with two variants in the PRF1 gene.
Sienes Bailo P; Goñi Ros N; Menéndez Jándula B; Álvarez Alegret R; González Gómez E; González Tarancón R; Izquierdo Álvarez S
Ann Clin Biochem; 2023 Sep; 60(5):356-364. PubMed ID: 37365821
[TBL] [Abstract][Full Text] [Related]
19. A novel pathogenic variant in PRF1 associated with hemophagocytic lymphohistiocytosis.
Romero CA; Sánchez IP; Gutierrez-Hincapié S; Álvarez-Álvarez JA; Pereañez JA; Ochoa R; Muskus-López CE; Eraso RG; Echeverry C; Arango C; Restrepo JL; Trujillo-Vargas CM
J Clin Immunol; 2015 Jul; 35(5):501-11. PubMed ID: 25975970
[TBL] [Abstract][Full Text] [Related]
20. Modulatory effects of perforin gene dosage on pathogen-associated blood-brain barrier (BBB) disruption.
Willenbring RC; Jin F; Hinton DJ; Hansen M; Choi DS; Pavelko KD; Johnson AJ
J Neuroinflammation; 2016 Aug; 13(1):222. PubMed ID: 27576583
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
