Literature DB >> 31932842

Prevalence and disease predisposition of p.A91V perforin in an aged population of European ancestry.

Ilia Voskoboinik1,2, Paul Lacaze3, Helena Sung-In Jang4,5, Thijs Flinsenberg1, Suran L Fernando4,5,6, Ian Kerridge7, Moeen Riaz3, Robert Sebra8,9, Kevin Thia10, Taherah Noori1, Eric E Schadt8,9, John J McNeil3, Joseph A Trapani2,10.   

Abstract

Entities:  

Keywords:  A91V; A91V perforin

Mesh：

Substances：

Year:  2020        PMID： 31932842      PMCID： PMC7033372          DOI： 10.1182/blood.2019003487

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


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  19 in total

Review 1.  Perforin: structure, function, and role in human immunopathology.

Authors:  Ilia Voskoboinik; Michelle A Dunstone; Katherine Baran; James C Whisstock; Joseph A Trapani
Journal:  Immunol Rev       Date:  2010-05       Impact factor: 12.988

Review 2.  Perforin and granzymes: function, dysfunction and human pathology.

Authors:  Ilia Voskoboinik; James C Whisstock; Joseph A Trapani
Journal:  Nat Rev Immunol       Date:  2015-06       Impact factor: 53.106

3.  Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

Authors:  S E Stepp; R Dufourcq-Lagelouse; F Le Deist; S Bhawan; S Certain; P A Mathew; J I Henter; M Bennett; A Fischer; G de Saint Basile; V Kumar
Journal:  Science       Date:  1999-12-03       Impact factor: 47.728

4.  Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection.

Authors:  Esther Mancebo; Luis M Allende; María Guzmán; Estela Paz-Artal; Juana Gil; Ramón Urrea-Moreno; Eduardo Fernández-Cruz; Antoni Gayà; Javier Calvo; Aina Arbós; M Antonia Durán; Ramón Canet; José Balanzat; María A Udina; F Javier Vercher
Journal:  Haematologica       Date:  2006-09       Impact factor: 9.941

5.  Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis.

Authors:  Sebastiaan J Vastert; Richard van Wijk; Leila E D'Urbano; Karen M K de Vooght; Wilco de Jager; Angelo Ravelli; Silvia Magni-Manzoni; Antonella Insalaco; Elisabetta Cortis; Wouter W van Solinge; Berent J Prakken; Nico M Wulffraat; Fabrizio de Benedetti; Wietse Kuis
Journal:  Rheumatology (Oxford)       Date:  2009-12-17       Impact factor: 7.580

6.  Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer.

Authors:  Jenny Chia; Kim Pin Yeo; James C Whisstock; Michelle A Dunstone; Joseph A Trapani; Ilia Voskoboinik
Journal:  Proc Natl Acad Sci U S A       Date:  2009-06-01       Impact factor: 11.205

7.  Effect of Aspirin on Cardiovascular Events and Bleeding in the Healthy Elderly.

Authors:  John J McNeil; Rory Wolfe; Robyn L Woods; Andrew M Tonkin; Geoffrey A Donnan; Mark R Nelson; Christopher M Reid; Jessica E Lockery; Brenda Kirpach; Elsdon Storey; Raj C Shah; Jeff D Williamson; Karen L Margolis; Michael E Ernst; Walter P Abhayaratna; Nigel Stocks; Sharyn M Fitzgerald; Suzanne G Orchard; Ruth E Trevaks; Lawrence J Beilin; Colin I Johnston; Joanne Ryan; Barbara Radziszewska; Michael Jelinek; Mobin Malik; Charles B Eaton; Donna Brauer; Geoff Cloud; Erica M Wood; Suzanne E Mahady; Suzanne Satterfield; Richard Grimm; Anne M Murray
Journal:  N Engl J Med       Date:  2018-09-16       Impact factor: 91.245

8.  Effect of Aspirin on All-Cause Mortality in the Healthy Elderly.

Authors:  John J McNeil; Mark R Nelson; Robyn L Woods; Jessica E Lockery; Rory Wolfe; Christopher M Reid; Brenda Kirpach; Raj C Shah; Diane G Ives; Elsdon Storey; Joanne Ryan; Andrew M Tonkin; Anne B Newman; Jeff D Williamson; Karen L Margolis; Michael E Ernst; Walter P Abhayaratna; Nigel Stocks; Sharyn M Fitzgerald; Suzanne G Orchard; Ruth E Trevaks; Lawrence J Beilin; Geoffrey A Donnan; Peter Gibbs; Colin I Johnston; Barbara Radziszewska; Richard Grimm; Anne M Murray
Journal:  N Engl J Med       Date:  2018-09-16       Impact factor: 91.245

9.  A proportion of patients with lymphoma may harbor mutations of the perforin gene.

Authors:  Rita Clementi; Franco Locatelli; Loïc Dupré; Alberto Garaventa; Lorenzo Emmi; Marco Bregni; Graziella Cefalo; Antonia Moretta; Cesare Danesino; Margherita Comis; Andrea Pession; Ugo Ramenghi; Rita Maccario; Maurizio Aricò; Maria Grazia Roncarolo
Journal:  Blood       Date:  2005-02-22       Impact factor: 22.113

10.  Human perforin mutations and susceptibility to multiple primary cancers.

Authors:  Joseph A Trapani; Kevin Y T Thia; Miles Andrews; Ian D Davis; Craig Gedye; Philip Parente; Suzanne Svobodova; Jenny Chia; Kylie Browne; Ian G Campbell; Wayne A Phillips; Ilia Voskoboinik; Jonathan S Cebon
Journal:  Oncoimmunology       Date:  2013-04-01       Impact factor: 8.110
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  2 in total

1.  Preclinical Activity and Pharmacokinetic/Pharmacodynamic Relationship for a Series of Novel Benzenesulfonamide Perforin Inhibitors.

Authors:  Kate H Gartlan; Jagdish K Jaiswal; Matthew R Bull; Hedieh Akhlaghi; Vivien R Sutton; Kylie A Alexander; Karshing Chang; Geoffrey R Hill; Christian K Miller; Patrick D O'Connor; Jiney Jose; Joseph A Trapani; Susan A Charman; Julie A Spicer; Stephen M F Jamieson
Journal:  ACS Pharmacol Transl Sci       Date:  2022-05-31

2.  Perforin gene variant A91V in young patients with severe COVID-19.

Authors: 
Journal:  Haematologica       Date:  2020-07-23       Impact factor: 9.941
  2 in total

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