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Results: 1 to 20 of 64

1.

Hematopoietic stem cell transplantation of an adolescent with neurological manifestations of homozygous missense PRF1 mutation.

Hussein AA, Hamadah T, Qandeel M, Sughayer M, Amarin R, Mansour A, Chiang SC, Al-Zaben A, Meeths M, Bryceson YT.

Pediatr Blood Cancer. 2014 Dec;61(12):2313-5. doi: 10.1002/pbc.25166. Epub 2014 Aug 11.

PMID:
25110876
2.

Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis.

Zhang K, Chandrakasan S, Chapman H, Valencia CA, Husami A, Kissell D, Johnson JA, Filipovich AH.

Blood. 2014 Aug 21;124(8):1331-4. doi: 10.1182/blood-2014-05-573105. Epub 2014 Jun 10.

3.

Enhanced suppressor function of TIM-3+ FoxP3+ regulatory T cells.

Gautron AS, Dominguez-Villar M, de Marcken M, Hafler DA.

Eur J Immunol. 2014 Sep;44(9):2703-11. doi: 10.1002/eji.201344392. Epub 2014 Jun 16.

PMID:
24838857
4.

MicroRNA-150 regulates the cytotoxicity of natural killers by targeting perforin-1.

Kim N, Kim M, Yun S, Doh J, Greenberg PD, Kim TD, Choi I.

J Allergy Clin Immunol. 2014 Jul;134(1):195-203. doi: 10.1016/j.jaci.2014.02.018. Epub 2014 Mar 31.

5.

An A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomas.

Manso R, Rodríguez-Pinilla SM, Lombardia L, Ruiz de Garibay G, Del Mar López M, Requena L, Sánchez L, Sánchez-Beato M, Piris MÁ.

PLoS One. 2014 Mar 14;9(3):e91521. doi: 10.1371/journal.pone.0091521. eCollection 2014.

6.

Cyclophosphamide alters the gene expression profile in patients treated with high doses prior to stem cell transplantation.

El-Serafi I, Abedi-Valugerdi M, Potácová Z, Afsharian P, Mattsson J, Moshfegh A, Hassan M.

PLoS One. 2014 Jan 22;9(1):e86619. doi: 10.1371/journal.pone.0086619. eCollection 2014. Erratum in: PLoS One. 2014;9(3):e93239.

7.

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. doi: 10.1097/MPH.0000000000000102.

PMID:
24390453
8.

Longitudinal immune responses and gene expression profiles in type 1 leprosy reactions.

Geluk A, van Meijgaarden KE, Wilson L, Bobosha K, van der Ploeg-van Schip JJ, van den Eeden SJ, Quinten E, Dijkman K, Franken KL, Haisma EM, Haks MC, van Hees CL, Ottenhoff TH.

J Clin Immunol. 2014 Feb;34(2):245-55. doi: 10.1007/s10875-013-9979-x. Epub 2013 Dec 27.

PMID:
24370984
9.

Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology.

Coudert AE, Del Fattore A, Baulard C, Olaso R, Schiltz C, Collet C, Teti A, de Vernejoul MC.

Lab Invest. 2014 Mar;94(3):275-85. doi: 10.1038/labinvest.2013.140. Epub 2013 Dec 16.

10.

Novel polymorphisms in the promoter region of the perforin gene among distinct Brazilian populations and their functional impact.

Garcia FB, Kashima S, Rodrigues ES, Silva IT, Malta TM, Nicolete LD, Haddad R, Moraes-Souza H, Covas DT.

Int J Immunogenet. 2014 Jun;41(3):198-205. doi: 10.1111/iji.12103. Epub 2013 Dec 10.

PMID:
24321052
11.

Monoallelic mutations of the perforin gene may represent a predisposing factor to childhood anaplastic large cell lymphoma.

Ciambotti B, Mussolin L, d'Amore ES, Pillon M, Sieni E, Coniglio ML, Ros MD, Cetica V, Aricò M, Rosolen A.

J Pediatr Hematol Oncol. 2014 Aug;36(6):e359-65. doi: 10.1097/MPH.0000000000000073.

PMID:
24309606
12.

Clinical and serological findings associated with the expression of ITGAL, PRF1, and CD70 in systemic lupus erythematosus.

Balada E, Castro-Marrero J, Felip L, Ordi-Ros J, Vilardell-Tarrés M.

Clin Exp Rheumatol. 2014 Jan-Feb;32(1):113-6. Epub 2013 Nov 15.

PMID:
24238281
13.

Hemophagocytic lymphohistiocytosis associated with parechovirus 3 infection.

Aviner S, Sofer D, Shulman LM, Bibi H, Weitzman S.

J Pediatr Hematol Oncol. 2014 May;36(4):e251-3. doi: 10.1097/MPH.0000000000000015.

PMID:
24072243
14.

Down-regulation of CD5 expression on activated CD8+ T cells in familial hemophagocytic lymphohistiocytosis with perforin gene mutations.

Wada T, Sakakibara Y, Nishimura R, Toma T, Ueno Y, Horita S, Tanaka T, Nishi M, Kato K, Yasumi T, Ohara O, Yachie A.

Hum Immunol. 2013 Dec;74(12):1579-85. doi: 10.1016/j.humimm.2013.09.001. Epub 2013 Sep 16.

PMID:
24051121
15.

Genes related to antiviral activity, cell migration, and lysis are differentially expressed in CD4(+) T cells in human t cell leukemia virus type 1-associated myelopathy/tropical spastic paraparesis patients.

Pinto MT, Malta TM, Rodrigues ES, Pinheiro DG, Panepucci RA, Malmegrim de Farias KC, Sousa Ade P, Takayanagui OM, Tanaka Y, Covas DT, Kashima S.

AIDS Res Hum Retroviruses. 2014 Jun;30(6):610-22. doi: 10.1089/AID.2013.0109. Epub 2013 Oct 16.

PMID:
24041428
16.

Methylation patterns in whole blood correlate with symptoms in schizophrenia patients.

Liu J, Chen J, Ehrlich S, Walton E, White T, Perrone-Bizzozero N, Bustillo J, Turner JA, Calhoun VD.

Schizophr Bull. 2014 Jul;40(4):769-76. doi: 10.1093/schbul/sbt080. Epub 2013 Jun 3.

PMID:
23734059
17.

Association between granzyme B and perforin I polymorphisms and allograft outcomes in Hispanic kidney transplant recipients.

Corrales-Tellez E, Vu D, Shah T, Hutchinson I, Min DI.

Clin Transplant. 2013 May-Jun;27(3):E308-15. doi: 10.1111/ctr.12114. Epub 2013 Mar 26.

PMID:
23528102
18.

DNA methylation dynamics in blood after hematopoietic cell transplant.

Rodriguez RM, Suarez-Alvarez B, Salvanés R, Muro M, Martínez-Camblor P, Colado E, Sánchez MA, Díaz MG, Fernandez AF, Fraga MF, Lopez-Larrea C.

PLoS One. 2013;8(2):e56931. doi: 10.1371/journal.pone.0056931. Epub 2013 Feb 22. Erratum in: PLoS One. 2013;8(9). doi:10.1371/annotation/2f9880f8-6b33-4b78-9914-d1129a5af8cd.

19.

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.

Dias C, McDonald A, Sincan M, Rupps R, Markello T, Salvarinova R, Santos RF, Menghrajani K, Ahaghotu C, Sutherland DP, Fortuno ES 3rd, Kollmann TR, Demos M, Friedman JM, Speert DP, Gahl WA, Boerkoel CF.

Eur J Hum Genet. 2013 Nov;21(11):1232-9. doi: 10.1038/ejhg.2013.20. Epub 2013 Feb 27.

20.

Impaired DNA methylation and its mechanisms in CD4(+)T cells of systemic lupus erythematosus.

Zhang Y, Zhao M, Sawalha AH, Richardson B, Lu Q.

J Autoimmun. 2013 Mar;41:92-9. doi: 10.1016/j.jaut.2013.01.005. Epub 2013 Jan 20. Review.

PMID:
23340289
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