Literature DB >> 28414062

Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans.

Andrew J Takeda1, Yu Zhang2, Gillian L Dornan3, Braden D Siempelkamp3, Meredith L Jenkins3, Helen F Matthews4, Joshua J McElwee5, Weimin Bi6, Filiz O Seeborg7, Helen C Su2, John E Burke3, Carrie L Lucas8.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2017        PMID： 28414062      PMCID： PMC5632585          DOI： 10.1016/j.jaci.2017.03.026

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


× No keyword cloud information.
  8 in total

1.  Phosphatidylinositol 3-kinase-δ inhibitor CAL-101 shows promising preclinical activity in chronic lymphocytic leukemia by antagonizing intrinsic and extrinsic cellular survival signals.

Authors:  Sarah E M Herman; Amber L Gordon; Amy J Wagner; Nyla A Heerema; Weiqiang Zhao; Joseph M Flynn; Jeffrey Jones; Leslie Andritsos; Kamal D Puri; Brian J Lannutti; Neill A Giese; Xiaoli Zhang; Lai Wei; John C Byrd; Amy J Johnson
Journal:  Blood       Date:  2010-06-03       Impact factor: 22.113

2.  Dynamics of the phosphoinositide 3-kinase p110δ interaction with p85α and membranes reveals aspects of regulation distinct from p110α.

Authors:  John E Burke; Oscar Vadas; Alex Berndt; Tara Finegan; Olga Perisic; Roger L Williams
Journal:  Structure       Date:  2011-08-10       Impact factor: 5.006

3.  Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency.

Authors:  Carrie L Lucas; Hye Sun Kuehn; Fang Zhao; Julie E Niemela; Elissa K Deenick; Umaimainthan Palendira; Danielle T Avery; Leen Moens; Jennifer L Cannons; Matthew Biancalana; Jennifer Stoddard; Weiming Ouyang; David M Frucht; V Koneti Rao; T Prescott Atkinson; Anahita Agharahimi; Ashleigh A Hussey; Les R Folio; Kenneth N Olivier; Thomas A Fleisher; Stefania Pittaluga; Steven M Holland; Jeffrey I Cohen; Joao B Oliveira; Stuart G Tangye; Pamela L Schwartzberg; Michael J Lenardo; Gulbu Uzel
Journal:  Nat Immunol       Date:  2013-10-28       Impact factor: 25.606

4.  A human immunodeficiency caused by mutations in the PIK3R1 gene.

Authors:  Marie-Céline Deau; Lucie Heurtier; Pierre Frange; Felipe Suarez; Christine Bole-Feysot; Patrick Nitschke; Marina Cavazzana; Capucine Picard; Anne Durandy; Alain Fischer; Sven Kracker
Journal:  J Clin Invest       Date:  2014-08-18       Impact factor: 14.808

5.  Oncogenic mutations mimic and enhance dynamic events in the natural activation of phosphoinositide 3-kinase p110α (PIK3CA).

Authors:  John E Burke; Olga Perisic; Glenn R Masson; Oscar Vadas; Roger L Williams
Journal:  Proc Natl Acad Sci U S A       Date:  2012-09-04       Impact factor: 11.205

6.  Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.

Authors:  Ivan Angulo; Oscar Vadas; Fabien Garçon; Edward Banham-Hall; Vincent Plagnol; Timothy R Leahy; Helen Baxendale; Tanya Coulter; James Curtis; Changxin Wu; Katherine Blake-Palmer; Olga Perisic; Deborah Smyth; Mailis Maes; Christine Fiddler; Jatinder Juss; Deirdre Cilliers; Gašper Markelj; Anita Chandra; George Farmer; Anna Kielkowska; Jonathan Clark; Sven Kracker; Marianne Debré; Capucine Picard; Isabelle Pellier; Nada Jabado; James A Morris; Gabriela Barcenas-Morales; Alain Fischer; Len Stephens; Phillip Hawkins; Jeffrey C Barrett; Mario Abinun; Menna Clatworthy; Anne Durandy; Rainer Doffinger; Edwin R Chilvers; Andrew J Cant; Dinakantha Kumararatne; Klaus Okkenhaug; Roger L Williams; Alison Condliffe; Sergey Nejentsev
Journal:  Science       Date:  2013-10-17       Impact factor: 47.728

7.  Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.

Authors:  Carrie L Lucas; Yu Zhang; Anthony Venida; Ying Wang; Jason Hughes; Joshua McElwee; Morgan Butrick; Helen Matthews; Susan Price; Matthew Biancalana; Xiaochuan Wang; Michael Richards; Tamara Pozos; Isil Barlan; Ahmet Ozen; V Koneti Rao; Helen C Su; Michael J Lenardo
Journal:  J Exp Med       Date:  2014-12-08       Impact factor: 14.307

8.  Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.

Authors:  Tanya I Coulter; Anita Chandra; Chris M Bacon; Judith Babar; James Curtis; Nick Screaton; John R Goodlad; George Farmer; Cathal Laurence Steele; Timothy Ronan Leahy; Rainer Doffinger; Helen Baxendale; Jolanta Bernatoniene; J David M Edgar; Hilary J Longhurst; Stephan Ehl; Carsten Speckmann; Bodo Grimbacher; Anna Sediva; Tomas Milota; Saul N Faust; Anthony P Williams; Grant Hayman; Zeynep Yesim Kucuk; Rosie Hague; Paul French; Richard Brooker; Peter Forsyth; Richard Herriot; Caterina Cancrini; Paolo Palma; Paola Ariganello; Niall Conlon; Conleth Feighery; Patrick J Gavin; Alison Jones; Kohsuke Imai; Mohammad A A Ibrahim; Gašper Markelj; Mario Abinun; Frédéric Rieux-Laucat; Sylvain Latour; Isabelle Pellier; Alain Fischer; Fabien Touzot; Jean-Laurent Casanova; Anne Durandy; Siobhan O Burns; Sinisa Savic; D S Kumararatne; Despina Moshous; Sven Kracker; Bart Vanhaesebroeck; Klaus Okkenhaug; Capucine Picard; Sergey Nejentsev; Alison M Condliffe; Andrew James Cant
Journal:  J Allergy Clin Immunol       Date:  2016-07-16       Impact factor: 10.793
  8 in total
  25 in total

Review 1.  Immune Dysregulation and Disease Pathogenesis due to Activating Mutations in PIK3CD-the Goldilocks' Effect.

Authors:  Stuart G Tangye; Julia Bier; Anthony Lau; Tina Nguyen; Gulbu Uzel; Elissa K Deenick
Journal:  J Clin Immunol       Date:  2019-03-25       Impact factor: 8.317

Review 2.  Dynamic structural biology at the protein membrane interface.

Authors:  John E Burke
Journal:  J Biol Chem       Date:  2019-01-28       Impact factor: 5.157

3.  Induction of metabolic quiescence defines the transitional to follicular B cell switch.

Authors:  Jocelyn R Farmer; Hugues Allard-Chamard; Na Sun; Maimuna Ahmad; Alice Bertocchi; Vinay S Mahajan; Toby Aicher; Johan Arnold; Mark D Benson; Jordan Morningstar; Sara Barmettler; Grace Yuen; Samuel J H Murphy; Jolan E Walter; Musie Ghebremichael; Alex K Shalek; Facundo Batista; Robert Gerszten; Shiv Pillai
Journal:  Sci Signal       Date:  2019-10-22       Impact factor: 8.192

4.  Effective "activated PI3Kδ syndrome"-targeted therapy with the PI3Kδ inhibitor leniolisib.

Authors:  V Koneti Rao; Sharon Webster; Virgil A S H Dalm; Anna Šedivá; P Martin van Hagen; Steven Holland; Sergio D Rosenzweig; Andreas D Christ; Birgitte Sloth; Maciej Cabanski; Aniket D Joshi; Stefan de Buck; Julie Doucet; Danilo Guerini; Christoph Kalis; Ilona Pylvaenaeinen; Nicolas Soldermann; Anuj Kashyap; Gulbu Uzel; Michael J Lenardo; Dhavalkumar D Patel; Carrie L Lucas; Christoph Burkhart
Journal:  Blood       Date:  2017-09-29       Impact factor: 22.113

5.  E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1.

Authors:  Yanping Wang; Xuemei Chen; Qiuyun Yang; Wenjing Tang; Yanjun Jia; Lina Zhou; Yunfei An; Zhiyong Zhang; Xuemei Tang; Xiaodong Zhao
Journal:  J Clin Immunol       Date:  2020-01-17       Impact factor: 8.317

6.  Report of a Chinese Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome.

Authors:  Ying Wang; Wenjie Wang; Luyao Liu; Jia Hou; Wenjing Ying; Xiaoying Hui; Qinhua Zhou; Danru Liu; Haili Yao; Jinqiao Sun; Xiaochuan Wang
Journal:  J Clin Immunol       Date:  2018-11-29       Impact factor: 8.542

Review 7.  Herpesviruses in the Activated Phosphatidylinositol-3-Kinase-δ Syndrome.

Authors:  Jeffrey I Cohen
Journal:  Front Immunol       Date:  2018-02-23       Impact factor: 7.561

Review 8.  Activated PI3Kinase Delta Syndrome-A Multifaceted Disease.

Authors:  Romane Thouenon; Nidia Moreno-Corona; Lucie Poggi; Anne Durandy; Sven Kracker
Journal:  Front Pediatr       Date:  2021-06-25       Impact factor: 3.418

Review 9.  Epstein-Barr Virus Susceptibility in Activated PI3Kδ Syndrome (APDS) Immunodeficiency.

Authors:  Jean-Marie Carpier; Carrie L Lucas
Journal:  Front Immunol       Date:  2018-01-16       Impact factor: 7.561

Review 10.  Molecular Mechanisms of Human Disease Mediated by Oncogenic and Primary Immunodeficiency Mutations in Class IA Phosphoinositide 3-Kinases.

Authors:  Gillian L Dornan; John E Burke
Journal:  Front Immunol       Date:  2018-03-19       Impact factor: 7.561
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.