Literature DB >> 26365386

A novel mutation in the POLE2 gene causing combined immunodeficiency.

Francesco Frugoni1, Kerry Dobbs1, Kerstin Felgentreff1, Hasan Aldhekri2, Bandar K Al Saud2, Rand Arnaout2, Afshan Ashraf Ali3, Avinash Abhyankar4, Fayhan Alroqi1, Silvia Giliani5, Mayra Martinez Ojeda6, Erdyni Tsitsikov7, Sung-Yun Pai8, Jean Laurent Casanova9, Luigi D Notarangelo10, John P Manis11.   

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Year:  2015        PMID： 26365386      PMCID： PMC4747780          DOI： 10.1016/j.jaci.2015.06.049

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


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  9 in total

Review 1.  Breaking down cell cycle checkpoints and DNA repair during antigen receptor gene assembly.

Authors:  E Callén; M C Nussenzweig; A Nussenzweig
Journal:  Oncogene       Date:  2007-12-10       Impact factor: 9.867

Review 2.  DNA polymerases and human disease.

Authors:  Lawrence A Loeb; Raymond J Monnat
Journal:  Nat Rev Genet       Date:  2008-08       Impact factor: 53.242

Review 3.  Primary antibody deficiencies.

Authors:  Anne Durandy; Sven Kracker; Alain Fischer
Journal:  Nat Rev Immunol       Date:  2013-06-14       Impact factor: 53.106

4.  Human Pol ε-dependent replication errors and the influence of mismatch repair on their correction.

Authors:  Anderson Ayuk Agbor; A Yasemin Göksenin; Kimberly G LeCompte; Samuel H Hans; Zachary F Pursell
Journal:  DNA Repair (Amst)       Date:  2013-09-17

Review 5.  Balancing eukaryotic replication asymmetry with replication fidelity.

Authors:  Thomas A Kunkel
Journal:  Curr Opin Chem Biol       Date:  2011-08-19       Impact factor: 8.822

Review 6.  The response to and repair of RAG-mediated DNA double-strand breaks.

Authors:  Beth A Helmink; Barry P Sleckman
Journal:  Annu Rev Immunol       Date:  2012-01-03       Impact factor: 28.527

7.  Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome").

Authors:  Jana Pachlopnik Schmid; Roxane Lemoine; Nadine Nehme; Valéry Cormier-Daire; Patrick Revy; Franck Debeurme; Marianne Debré; Patrick Nitschke; Christine Bole-Feysot; Laurence Legeai-Mallet; Annick Lim; Jean-Pierre de Villartay; Capucine Picard; Anne Durandy; Alain Fischer; Geneviève de Saint Basile
Journal:  J Exp Med       Date:  2012-12-10       Impact factor: 14.307

8.  Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.

Authors:  Waleed Al-Herz; Aziz Bousfiha; Jean-Laurent Casanova; Talal Chatila; Mary Ellen Conley; Charlotte Cunningham-Rundles; Amos Etzioni; Jose Luis Franco; H Bobby Gaspar; Steven M Holland; Christoph Klein; Shigeaki Nonoyama; Hans D Ochs; Erik Oksenhendler; Capucine Picard; Jennifer M Puck; Kate Sullivan; Mimi L K Tang
Journal:  Front Immunol       Date:  2014-04-22       Impact factor: 7.561

9.  Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

Authors:  Claire Palles; Jean-Baptiste Cazier; Kimberley M Howarth; Enric Domingo; Angela M Jones; Peter Broderick; Zoe Kemp; Sarah L Spain; Estrella Guarino; Estrella Guarino Almeida; Israel Salguero; Amy Sherborne; Daniel Chubb; Luis G Carvajal-Carmona; Yusanne Ma; Kulvinder Kaur; Sara Dobbins; Ella Barclay; Maggie Gorman; Lynn Martin; Michal B Kovac; Sean Humphray; Anneke Lucassen; Christopher C Holmes; David Bentley; Peter Donnelly; Jenny Taylor; Christos Petridis; Rebecca Roylance; Elinor J Sawyer; David J Kerr; Susan Clark; Jonathan Grimes; Stephen E Kearsey; Huw J W Thomas; Gilean McVean; Richard S Houlston; Ian Tomlinson
Journal:  Nat Genet       Date:  2012-12-23       Impact factor: 38.330
  9 in total
  17 in total

Review 1.  Emerging insights into human health and NK cell biology from the study of NK cell deficiencies.

Authors:  Emily M Mace; Jordan S Orange
Journal:  Immunol Rev       Date:  2019-01       Impact factor: 12.988

2.  Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress.

Authors:  Cecilia Domínguez Conde; Özlem Yüce Petronczki; Safa Baris; Katharina L Willmann; Enrico Girardi; Elisabeth Salzer; Stefan Weitzer; Rico Chandra Ardy; Ana Krolo; Hanna Ijspeert; Ayca Kiykim; Elif Karakoc-Aydiner; Elisabeth Förster-Waldl; Leo Kager; Winfried F Pickl; Giulio Superti-Furga; Javier Martínez; Joanna I Loizou; Ahmet Ozen; Mirjam van der Burg; Kaan Boztug
Journal:  J Clin Invest       Date:  2019-10-01       Impact factor: 14.808

3.  A human inborn error connects the α's.

Authors:  Isabelle Meyts; Jean-Laurent Casanova
Journal:  Nat Immunol       Date:  2016-05       Impact factor: 25.606

4.  Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.

Authors:  Hilde Van Esch; Rita Colnaghi; Kathleen Freson; Petro Starokadomskyy; Andreas Zankl; Liesbeth Backx; Iga Abramowicz; Emily Outwin; Luis Rohena; Claire Faulkner; Gary M Leong; Ruth A Newbury-Ecob; Rachel C Challis; Katrin Õunap; Jacques Jaeken; Eve Seuntjens; Koen Devriendt; Ezra Burstein; Karen J Low; Mark O'Driscoll
Journal:  Am J Hum Genet       Date:  2019-04-18       Impact factor: 11.025

5.  Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1.

Authors:  Ye Cui; Sevgi Keles; Louis-Marie Charbonnier; Amélie M Julé; Lauren Henderson; Seyma Celikbilek Celik; Ismail Reisli; Chen Shen; Wen Jun Xie; Klaus Schmitz-Abe; Hao Wu; Talal A Chatila
Journal:  J Allergy Clin Immunol       Date:  2019-10-16       Impact factor: 10.793

6.  Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.

Authors:  Julien Cottineau; Molly C Kottemann; Francis P Lach; Young-Hoon Kang; Frédéric Vély; Elissa K Deenick; Tomi Lazarov; Laure Gineau; Yi Wang; Andrea Farina; Marie Chansel; Lazaro Lorenzo; Christelle Piperoglou; Cindy S Ma; Patrick Nitschke; Aziz Belkadi; Yuval Itan; Bertrand Boisson; Fabienne Jabot-Hanin; Capucine Picard; Jacinta Bustamante; Céline Eidenschenk; Soraya Boucherit; Nathalie Aladjidi; Didier Lacombe; Pascal Barat; Waseem Qasim; Jane A Hurst; Andrew J Pollard; Holm H Uhlig; Claire Fieschi; Jean Michon; Vladimir P Bermudez; Laurent Abel; Jean-Pierre de Villartay; Frédéric Geissmann; Stuart G Tangye; Jerard Hurwitz; Eric Vivier; Jean-Laurent Casanova; Agata Smogorzewska; Emmanuelle Jouanguy
Journal:  J Clin Invest       Date:  2017-04-17       Impact factor: 19.456

7.  MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency.

Authors:  Karen M Knapp; Danielle E Jenkins; Rosie Sullivan; Frederike L Harms; Leonie von Elsner; Charlotte W Ockeloen; Sonja de Munnik; Ernie M H F Bongers; Jennie Murray; Nicholas Pachter; Jonas Denecke; Kerstin Kutsche; Louise S Bicknell
Journal:  Eur J Hum Genet       Date:  2021-03-02       Impact factor: 5.351

8.  Human NK cell deficiency as a result of biallelic mutations in MCM10.

Authors:  Emily M Mace; Silke Paust; Matilde I Conte; Ryan M Baxley; Megan M Schmit; Sagar L Patil; Nicole C Guilz; Malini Mukherjee; Ashley E Pezzi; Jolanta Chmielowiec; Swetha Tatineni; Ivan K Chinn; Zeynep Coban Akdemir; Shalini N Jhangiani; Donna M Muzny; Asbjørg Stray-Pedersen; Rachel E Bradley; Mo Moody; Philip P Connor; Adrian G Heaps; Colin Steward; Pinaki P Banerjee; Richard A Gibbs; Malgorzata Borowiak; James R Lupski; Stephen Jolles; Anja K Bielinsky; Jordan S Orange
Journal:  J Clin Invest       Date:  2020-10-01       Impact factor: 14.808

Review 9.  Mycobacterial diseases in patients with inborn errors of immunity.

Authors:  Stéphanie Boisson-Dupuis; Jacinta Bustamante
Journal:  Curr Opin Immunol       Date:  2021-07-24       Impact factor: 7.268

10.  Ailanthone inhibits non-small cell lung cancer cell growth through repressing DNA replication via downregulating RPA1.

Authors:  Zhongya Ni; Chao Yao; Xiaowen Zhu; Chenyuan Gong; Zihang Xu; Lixin Wang; Suyun Li; Chunpu Zou; Shiguo Zhu
Journal:  Br J Cancer       Date:  2017-10-12       Impact factor: 7.640
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