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Results: 1 to 20 of 128

1.

Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11.

Sepulveda FE, Debeurme F, Ménasché G, Kurowska M, Côte M, Pachlopnik Schmid J, Fischer A, de Saint Basile G.

Blood. 2013 Jan 24;121(4):595-603. doi: 10.1182/blood-2012-07-440339. Epub 2012 Nov 16.

PMID:
23160464
[PubMed - indexed for MEDLINE]
Free Article
2.

Hemophagocytic lymphohistiocytosis in syntaxin-11-deficient mice: T-cell exhaustion limits fatal disease.

Kögl T, Müller J, Jessen B, Schmitt-Graeff A, Janka G, Ehl S, zur Stadt U, Aichele P.

Blood. 2013 Jan 24;121(4):604-13. doi: 10.1182/blood-2012-07-441139. Epub 2012 Nov 27.

PMID:
23190531
[PubMed - indexed for MEDLINE]
Free Article
3.

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.

PMID:
16278825
[PubMed - indexed for MEDLINE]
4.

The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.

Jessen B, Bode SF, Ammann S, Chakravorty S, Davies G, Diestelhorst J, Frei-Jones M, Gahl WA, Gochuico BR, Griese M, Griffiths G, Janka G, Klein C, Kögl T, Kurnik K, Lehmberg K, Maul-Pavicic A, Mumford AD, Pace D, Parvaneh N, Rezaei N, de Saint Basile G, Schmitt-Graeff A, Schwarz K, Karasu GT, Zieger B, Zur Stadt U, Aichele P, Ehl S.

Blood. 2013 Apr 11;121(15):2943-51. doi: 10.1182/blood-2012-10-463166. Epub 2013 Feb 12.

PMID:
23403622
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome.

Jessen B, Maul-Pavicic A, Ufheil H, Vraetz T, Enders A, Lehmberg K, Längler A, Gross-Wieltsch U, Bay A, Kaya Z, Bryceson YT, Koscielniak E, Badawy S, Davies G, Hufnagel M, Schmitt-Graeff A, Aichele P, Zur Stadt U, Schwarz K, Ehl S.

Blood. 2011 Oct 27;118(17):4620-9. doi: 10.1182/blood-2011-05-356113. Epub 2011 Aug 30.

PMID:
21878672
[PubMed - indexed for MEDLINE]
Free Article
6.

Angeborene hämophagozytische Lymphohistiozytose (HLH).

Pachlopnik Schmid J, de Saint Basile G.

Klin Padiatr. 2010 Nov;222(6):345-50. doi: 10.1055/s-0029-1246165. Epub 2010 May 10. Review.

PMID:
20458667
[PubMed - indexed for MEDLINE]
7.

Syntaxin 11 marks a distinct intracellular compartment recruited to the immunological synapse of NK cells to colocalize with cytotoxic granules.

Dabrazhynetskaya A, Ma J, Guerreiro-Cacais AO, Arany Z, Rudd E, Henter JI, Karre K, Levitskaya J, Levitsky V.

J Cell Mol Med. 2012 Jan;16(1):129-41. doi: 10.1111/j.1582-4934.2011.01280.x.

PMID:
21342435
[PubMed - indexed for MEDLINE]
8.

Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients.

Bryceson YT, Rudd E, Zheng C, Edner J, Ma D, Wood SM, Bechensteen AG, Boelens JJ, Celkan T, Farah RA, Hultenby K, Winiarski J, Roche PA, Nordenskjöld M, Henter JI, Long EO, Ljunggren HG.

Blood. 2007 Sep 15;110(6):1906-15. Epub 2007 May 24.

PMID:
17525286
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Surprisingly variable "dangers, toils, and snares" faced by humans and mice.

Trapani JA, Voskoboinik I.

Blood. 2013 Jan 24;121(4):568-70. doi: 10.1182/blood-2012-11-468652. No abstract available.

PMID:
23349371
[PubMed - indexed for MEDLINE]
Free Article
10.

Syntaxin 11 is required for NK and CD8⁺ T-cell cytotoxicity and neutrophil degranulation.

D'Orlando O, Zhao F, Kasper B, Orinska Z, Müller J, Hermans-Borgmeyer I, Griffiths GM, Zur Stadt U, Bulfone-Paus S.

Eur J Immunol. 2013 Jan;43(1):194-208. doi: 10.1002/eji.201142343. Epub 2012 Dec 12.

PMID:
23042080
[PubMed - indexed for MEDLINE]
11.

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. doi: 10.1002/pbc.23216. Epub 2011 Jun 14.

PMID:
21674762
[PubMed - indexed for MEDLINE]
12.

A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH).

Pachlopnik Schmid J, Ho CH, Diana J, Pivert G, Lehuen A, Geissmann F, Fischer A, de Saint Basile G.

Eur J Immunol. 2008 Nov;38(11):3219-25. doi: 10.1002/eji.200838488.

PMID:
18991284
[PubMed - indexed for MEDLINE]
13.

Perforin is a critical physiologic regulator of T-cell activation.

Lykens JE, Terrell CE, Zoller EE, Risma K, Jordan MB.

Blood. 2011 Jul 21;118(3):618-26. doi: 10.1182/blood-2010-12-324533. Epub 2011 May 23.

PMID:
21606480
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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. doi: 10.1002/pbc.22676. Epub 2010 Dec 27.

PMID:
21298754
[PubMed - indexed for MEDLINE]
15.

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. Epub 2007 Nov 9.

PMID:
17993578
[PubMed - indexed for MEDLINE]
16.

[The study of gene mutations in unknown refractory viral infection and primary hemophagocytic lymphohistiocytosis].

Tong CR, Liu HX, Xie JJ, Wang F, Cai P, Wang H, Zhu J, Teng W, Zhang X, Yang JF, Zhang YL, Fei XH, Zhao J, Yin YM, Wu T, Wang JB, Sun Y, Liu R, Shi XD, Lu DP.

Zhonghua Nei Ke Za Zhi. 2011 Apr;50(4):280-3. Chinese.

PMID:
21600143
[PubMed - indexed for MEDLINE]
17.

The expanding spectrum of hemophagocytic lymphohistiocytosis.

Filipovich AH.

Curr Opin Allergy Clin Immunol. 2011 Dec;11(6):512-6. doi: 10.1097/ACI.0b013e32834c22f5. Review.

PMID:
21971331
[PubMed - indexed for MEDLINE]
18.

Inherited defects in lymphocyte cytotoxic activity.

Pachlopnik Schmid J, Côte M, Ménager MM, Burgess A, Nehme N, Ménasché G, Fischer A, de Saint Basile G.

Immunol Rev. 2010 May;235(1):10-23. doi: 10.1111/j.0105-2896.2010.00890.x. Review. Erratum in: Immunol Rev. 2010 Jul;236(1):276. Schmid, Jana P (corrected to Pachlopnik Schmid, Jana]..

PMID:
20536552
[PubMed - indexed for MEDLINE]
19.

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 30;5(11):e14173. doi: 10.1371/journal.pone.0014173.

PMID:
21152410
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Neutralization of IFNgamma defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient mice.

Pachlopnik Schmid J, Ho CH, Chrétien F, Lefebvre JM, Pivert G, Kosco-Vilbois M, Ferlin W, Geissmann F, Fischer A, de Saint Basile G.

EMBO Mol Med. 2009 May;1(2):112-24. doi: 10.1002/emmm.200900009.

PMID:
20049711
[PubMed - indexed for MEDLINE]
Free PMC Article

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