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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 3;18(1):49. doi: 10.1186/s12881-017-0404-9.


Interferon-γ Released by Activated CD8+ T Lymphocytes Impairs the Calcium Resorption Potential of Osteoclasts in Calcified Human Aortic Valves.

Nagy E, Lei Y, Martínez-Martínez E, Body SC, Schlotter F, Creager M, Assmann A, Khabbaz K, Libby P, Hansson GK, Aikawa E.

Am J Pathol. 2017 Jun;187(6):1413-1425. doi: 10.1016/j.ajpath.2017.02.012. Epub 2017 Apr 19.


Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH.

Rubin TS, Zhang K, Gifford C, Lane A, Choo S, Bleesing JJ, Marsh RA.

Blood. 2017 Jun 1;129(22):2993-2999. doi: 10.1182/blood-2016-12-753830. Epub 2017 Mar 7.


Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Korean Infant With Compound Heterozygous PRF1 Defects Involving a PRF1 Mutation, c.1091T>G.

Kim MS, Cho YU, Jang S, Seo EJ, Im HJ, Park CJ.

Ann Lab Med. 2017 Mar;37(2):162-165. doi: 10.3343/alm.2017.37.2.162. No abstract available.


Clinical presentation and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in China: A retrospective multicenter study.

Xu XJ, Wang HS, Ju XL, Xiao PF, Xiao Y, Xue HM, Shi HY, Gao YJ, Jia GC, Li XR, Zhao WH, Wang NL, Tang YM; Histiocytosis Study Group of the Chinese Pediatric Society.

Pediatr Blood Cancer. 2017 Apr;64(4). doi: 10.1002/pbc.26264. Epub 2016 Oct 26.


Association of Distinct Mutational Signatures With Correlates of Increased Immune Activity in Pancreatic Ductal Adenocarcinoma.

Connor AA, Denroche RE, Jang GH, Timms L, Kalimuthu SN, Selander I, McPherson T, Wilson GW, Chan-Seng-Yue MA, Borozan I, Ferretti V, Grant RC, Lungu IM, Costello E, Greenhalf W, Palmer D, Ghaneh P, Neoptolemos JP, Buchler M, Petersen G, Thayer S, Hollingsworth MA, Sherker A, Durocher D, Dhani N, Hedley D, Serra S, Pollett A, Roehrl MHA, Bavi P, Bartlett JMS, Cleary S, Wilson JM, Alexandrov LB, Moore M, Wouters BG, McPherson JD, Notta F, Stein LD, Gallinger S.

JAMA Oncol. 2017 Jun 1;3(6):774-783. doi: 10.1001/jamaoncol.2016.3916.


DUSP23 is over-expressed and linked to the expression of DNMTs in CD4+ T cells from systemic lupus erythematosus patients.

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

Clin Exp Immunol. 2017 Feb;187(2):242-250. doi: 10.1111/cei.12883. Epub 2016 Nov 16.


Decreased function of Fas and variations of the perforin gene in adult patients with primary immune thrombocytopenia.

Boggio E, Gigliotti CL, Rossi D, Toffoletti E, Cappellano G, Clemente N, Puglisi S, Lunghi M, Cerri M, Vianelli N, Cantoni S, Tieghi A, Beggiato E, Gaidano G, Comi C, Chiocchetti A, Fanin R, Dianzani U, Zaja F.

Br J Haematol. 2017 Jan;176(2):258-267. doi: 10.1111/bjh.14248. Epub 2016 Jul 8.


Predominant Neurologic Manifestations Seen in a Patient With a Biallelic Perforin1 Mutation (PRF1; p.R225W).

Madkaikar M, Gupta M, Dixit A, Patil V.

J Pediatr Hematol Oncol. 2017 Mar;39(2):143-146. doi: 10.1097/MPH.0000000000000597.


Enhancing NK cell cytotoxicity by miR-182 in hepatocellular carcinoma.

Abdelrahman MM, Fawzy IO, Bassiouni AA, Gomaa AI, Esmat G, Waked I, Abdelaziz AI.

Hum Immunol. 2016 Aug;77(8):667-673. doi: 10.1016/j.humimm.2016.04.020. Epub 2016 Jun 2.


The ETS Factor Myeloid Elf-1-Like Factor (MEF)/Elf4 Is Transcriptionally and Functionally Activated by Hypoxia.

Suico MA, Taura M, Kudo E, Gotoh K, Shuto T, Okada S, Kai H.

Biol Pharm Bull. 2016;39(4):641-7. doi: 10.1248/bpb.b15-00796.


Neoantigen Load, Antigen Presentation Machinery, and Immune Signatures Determine Prognosis in Clear Cell Renal Cell Carcinoma.

Matsushita H, Sato Y, Karasaki T, Nakagawa T, Kume H, Ogawa S, Homma Y, Kakimi K.

Cancer Immunol Res. 2016 May;4(5):463-71. doi: 10.1158/2326-6066.CIR-15-0225. Epub 2016 Mar 15.


Previously undiagnosed fatal familial haemophagocytic lymphohistiocytosis in a 24-year-old woman.

Barmettler S, Nowak RJ, Parker T, Price C.

BMJ Case Rep. 2016 Feb 22;2016. pii: bcr2015213698. doi: 10.1136/bcr-2015-213698.


Recurrent macrophage activation syndrome in spondyloarthritis and monoallelic missense mutations in PRF1: a description of one paediatric case.

Filocamo G, Petaccia A, Torcoletti M, Sieni E, Ravelli A, Corona F.

Clin Exp Rheumatol. 2016 Jul-Aug;34(4):719. Epub 2016 Jan 8. No abstract available.


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. doi: 10.1016/j.trsl.2015.12.004. Epub 2015 Dec 15.


Discovery of a Good Responder Subtype of Esophageal Squamous Cell Carcinoma with Cytotoxic T-Lymphocyte Signatures Activated by Chemoradiotherapy.

Tanaka Y, Aoyagi K, Minashi K, Komatsuzaki R, Komatsu M, Chiwaki F, Tamaoki M, Nishimura T, Takahashi N, Oda I, Tachimori Y, Arao T, Nishio K, Kitano S, Narumi K, Aoki K, Fujii S, Ochiai A, Yoshida T, Muto M, Yamada Y, Sasaki H.

PLoS One. 2015 Dec 1;10(12):e0143804. doi: 10.1371/journal.pone.0143804. eCollection 2015.


Whole-Exome Sequencing Reveals Mutations in Genes Linked to Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome in Fatal Cases of H1N1 Influenza.

Schulert GS, Zhang M, Fall N, Husami A, Kissell D, Hanosh A, Zhang K, Davis K, Jentzen JM, Napolitano L, Siddiqui J, Smith LB, Harms PW, Grom AA, Cron RQ.

J Infect Dis. 2016 Apr 1;213(7):1180-8. doi: 10.1093/infdis/jiv550. Epub 2015 Nov 23.


ST2 contributes to T-cell hyperactivation and fatal hemophagocytic lymphohistiocytosis in mice.

Rood JE, Rao S, Paessler M, Kreiger PA, Chu N, Stelekati E, Wherry EJ, Behrens EM.

Blood. 2016 Jan 28;127(4):426-35. doi: 10.1182/blood-2015-07-659813. Epub 2015 Oct 30.


Identification, characterisation and expression analysis of natural killer receptor genes in Chlamydia pecorum infected koalas (Phascolarctos cinereus).

Morris KM, Mathew M, Waugh C, Ujvari B, Timms P, Polkinghorne A, Belov K.

BMC Genomics. 2015 Oct 15;16:796. doi: 10.1186/s12864-015-2035-x.


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; Korea Histiocytosis Working Party.

Clin Genet. 2016 Feb;89(2):222-7. doi: 10.1111/cge.12682. Epub 2015 Nov 20.


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