Literature DB >> 15342365

A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype.

Udo Zur Stadt, Karin Beutel, Belinda Weber, Hartmut Kabisch, Reinhard Schneppenheim, Gritta Janka.   

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Year:  2004        PMID： 15342365     DOI： 10.1182/blood-2004-02-0733

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  20 in total

1.  Consensus recommendations for the diagnosis and management of hemophagocytic lymphohistiocytosis associated with malignancies.

Authors:  Kai Lehmberg; Kim E Nichols; Jan-Inge Henter; Michael Girschikofsky; Tatiana Greenwood; Michael Jordan; Ashish Kumar; Milen Minkov; Paul La Rosée; Sheila Weitzman
Journal:  Haematologica       Date:  2015-08       Impact factor: 9.941

2.  Functional and genetic testing in adults with HLH reveals an inflammatory profile rather than a cytotoxicity defect.

Authors:  Julien Carvelli; Christelle Piperoglou; Catherine Farnarier; Frédéric Vely; Karin Mazodier; Sandra Audonnet; Patrick Nitschke; Christine Bole-Feysot; Mohamed Boucekine; Audrey Cambon; Mohamed Hamidou; Jean-Robert Harle; Geneviève de Saint Basile; Gilles Kaplanski
Journal:  Blood       Date:  2020-07-30       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.  Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.

Authors:  Kejian Zhang; Michael B Jordan; Rebecca A Marsh; Judith A Johnson; Diane Kissell; Jarek Meller; Joyce Villanueva; Kimberly A Risma; Qian Wei; Peter S Klein; Alexandra H Filipovich
Journal:  Blood       Date:  2011-08-31       Impact factor: 22.113

7.  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

8.  Analyses of the PRF1 gene in individuals with hemophagocytic lymphohystiocytosis reveal the common haplotype R54C/A91V in Colombian unrelated families associated with late onset disease.

Authors:  Isaura P Sánchez; Lucía C Leal-Esteban; Jesús A Álvarez-Álvarez; Camilo A Pérez-Romero; Julio C Orrego; Malyive L Serna; Yadira Coll; Yolanda Caicedo; Edwin Pardo-Díaz; Jacques Zimmer; Jack J Bleesing; José L Franco; Claudia M Trujillo-Vargas
Journal:  J Clin Immunol       Date:  2012-03-22       Impact factor: 8.317

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

Authors:  Grant S Schulert; Mingce Zhang; Ndate Fall; Ammar Husami; Diane Kissell; Andrew Hanosh; Kejian Zhang; Kristina Davis; Jeffrey M Jentzen; Lena Napolitano; Javed Siddiqui; Lauren B Smith; Paul W Harms; Alexei A Grom; Randy Q Cron
Journal:  J Infect Dis       Date:  2015-11-23       Impact factor: 5.226

Review 10.  Genetic defects in cytolysis in macrophage activation syndrome.

Authors:  Mingce Zhang; Edward M Behrens; T Prescott Atkinson; Bita Shakoory; Alexei A Grom; Randy Q Cron
Journal:  Curr Rheumatol Rep       Date:  2014       Impact factor: 4.592
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