Literature DB >> 11565555

Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis.

R Clementi, U zur Stadt, G Savoldi, S Varoitto, V Conter, C De Fusco, L D Notarangelo, M Schneider, C Klersy, G Janka, C Danesino, M Aricò.   

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Year:  2001        PMID： 11565555      PMCID： PMC1734943          DOI： 10.1136/jmg.38.9.643

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


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  18 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.  Molecular basis of familial hemophagocytic lymphohistiocytosis.

Authors:  Valentina Cetica; Daniela Pende; Gillian M Griffiths; Maurizio Aricò
Journal:  Haematologica       Date:  2010-04       Impact factor: 9.941

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.  Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.

Authors:  Omer An; Attila Gursoy; Aytemiz Gurgey; Ozlem Keskin
Journal:  Protein Sci       Date:  2013-06       Impact factor: 6.725

Review 5.  Proliferation through activation: hemophagocytic lymphohistiocytosis in hematologic malignancy.

Authors:  Eric J Vick; Kruti Patel; Philippe Prouet; Mike G Martin
Journal:  Blood Adv       Date:  2017-05-09

6.  Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis.

Authors:  A Santoro; S Cannella; G Bossi; F Gallo; A Trizzino; D Pende; F Dieli; G Bruno; J C Stinchcombe; C Micalizzi; C De Fusco; C Danesino; L Moretta; L D Notarangelo; G M Griffiths; M Aricò
Journal:  J Med Genet       Date:  2006-07-06       Impact factor: 6.318

7.  Loss of intrahepatic bile ducts: an important feature of familial hemophagocytic lymphohistiocytosis.

Authors:  Klaus Kapelari; Martin Fruehwirth; Andreas Heitger; Alfred Königsrainer; Raimund Margreiter; Burkhard Simma; Felix Albert Offner
Journal:  Virchows Arch       Date:  2005-05-20       Impact factor: 4.064

8.  A novel perforin gene mutation in a Japanese family with hemophagocytic lymphohistiocytosis.

Authors:  Ikuyo Ueda; Urara Kohdera; Shigeyoshi Hibi; Tohru Inaba; Ken Yamamoto; Tohru Sugimoto; Akira Morimoto; Eiichi Ishii; Shinsaku Imashuku
Journal:  Int J Hematol       Date:  2006-01       Impact factor: 2.490

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

Authors:  Cristina Dias; Allison McDonald; Murat Sincan; Rosemarie Rupps; Thomas Markello; Ramona Salvarinova; Rui F Santos; Kamal Menghrajani; Chidi Ahaghotu; Darren P Sutherland; Edgardo S Fortuno; Tobias R Kollmann; Michelle Demos; Jan M Friedman; David P Speert; William A Gahl; Cornelius F Boerkoel
Journal:  Eur J Hum Genet       Date:  2013-02-27       Impact factor: 4.246
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