Literature DB >> 14757862

Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis.

S Molleran Lee, J Villanueva, J Sumegi, K Zhang, K Kogawa, J Davis, A H Filipovich.   

Abstract

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Year:  2004        PMID： 14757862      PMCID： PMC1735659          DOI： 10.1136/jmg.2003.011528

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  66 in total

1.  Critical role for perforin and Fas-dependent killing of dendritic cells in the control of inflammation.

Authors:  Min Chen; Kumar Felix; Jin Wang
Journal:  Blood       Date:  2011-10-31       Impact factor: 22.113

2.  Accuracy of flow cytometric perforin screening for detecting patients with FHL due to PRF1 mutations.

Authors:  Manar Abdalgani; Alexandra H Filipovich; Sharon Choo; Kejian Zhang; Carrie Gifford; Joyce Villanueva; Jack J Bleesing; Rebecca A Marsh
Journal:  Blood       Date:  2015-10-08       Impact factor: 22.113

3.  Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.

Authors:  Kimberly A Risma; Robert W Frayer; Alexandra H Filipovich; Janos Sumegi
Journal:  J Clin Invest       Date:  2005-12-22       Impact factor: 14.808

4.  Perforin polymorphism A91V and susceptibility to B-precursor childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group.

Authors:  P A Mehta; S M Davies; A Kumar; M Devidas; S Lee; T Zamzow; J Elliott; J Villanueva; J Pullen; Y Zewge; A Filipovich
Journal:  Leukemia       Date:  2006-06-22       Impact factor: 11.528

5.  Functional assessment of perforin C2 domain mutations illustrates the critical role for calcium-dependent lipid binding in perforin cytotoxic function.

Authors:  Ramon Urrea Moreno; Juana Gil; Carmen Rodriguez-Sainz; Elena Cela; Victor LaFay; Brian Oloizia; Andrew B Herr; Janos Sumegi; Michael B Jordan; Kimberly A Risma
Journal:  Blood       Date:  2008-10-16       Impact factor: 22.113

6.  Familial hemophagocytic lymphohistiocytosis with the MUNC13-4 mutation: a case report.

Authors:  Hiroshi Mizumoto; Daisuke Hata; Ken Yamamoto; Ryutaro Shirakawa; Akira Kumakura; Mitsutaka Shiota; Atsushi Yokoyama; Hiroshi Matsubara; Michihiro Kobayashi; Ryuta Nishikomori; Soichi Adachi; Tatsutoshi Nakahata; Toru Kita; Hisanori Horiuchi; Masaki Yasukawa; Eiichi Ishii
Journal:  Eur J Pediatr       Date:  2006-01-14       Impact factor: 3.183

7.  Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies.

Authors:  E Rudd; K Göransdotter Ericson; C Zheng; Z Uysal; A Ozkan; A Gürgey; B Fadeel; M Nordenskjöld; J-I Henter
Journal:  J Med Genet       Date:  2006-04       Impact factor: 6.318

Review 8.  Incomplete penetrance in primary immunodeficiency: a skeleton in the closet.

Authors:  Conor Gruber; Dusan Bogunovic
Journal:  Hum Genet       Date:  2020-02-17       Impact factor: 4.132

9.  UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis.

Authors:  Hoi Soo Yoon; Hee-Jin Kim; Keon-Hee Yoo; Ki-Woong Sung; Hong-Hoe Koo; Hyoung Jin Kang; Hee Young Shin; Hyo Seop Ahn; Ji-Yoon Kim; Young-Tak Lim; Keun-Wook Bae; Ki-O Lee; Ji-Sook Shin; Seung-Tae Lee; Hae-Sun Chung; Sun-Hee Kim; Chan-Jeoung Park; Hyun-Sook Chi; Ho-Joon Im; Jong Jin Seo
Journal:  Haematologica       Date:  2009-12-16       Impact factor: 9.941

10.  Missense mutations in the perforin (PRF1) gene as a cause of hereditary cancer predisposition.

Authors:  Mohammed S Chaudhry; Kimberly C Gilmour; Imran G House; Mark Layton; Nicki Panoskaltsis; Mamta Sohal; Joseph A Trapani; Ilia Voskoboinik
Journal:  Oncoimmunology       Date:  2016-06-02       Impact factor: 8.110
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