Literature DB >> 33140240

POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development.

Diana X Nichols-Vinueza1, Ottavia M Delmonte1, Vanessa Bundy2, Marita Bosticardo1, Michael T Zimmermann3, Nikita R Dsouza3, Francesca Pala1, Kerry Dobbs1, Jennifer Stoddard4, Julie E Niemela4, Hye Sun Kuehn4, Michael D Keller2, Cesar M Rueda5, Roshini S Abraham5, Raul Urrutia3, Sergio D Rosenzweig4, Luigi D Notarangelo6.   

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Year:  2020        PMID： 33140240      PMCID： PMC8319811          DOI： 10.1007/s10875-020-00903-6

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  13 in total

1.  Electrostatics of nanosystems: application to microtubules and the ribosome.

Authors:  N A Baker; D Sept; S Joseph; M J Holst; J A McCammon
Journal:  Proc Natl Acad Sci U S A       Date:  2001-08-21       Impact factor: 11.205

2.  Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children.

Authors:  Jeroen G Noordzij; Sandra de Bruin-Versteeg; W Marieke Comans-Bitter; Nico G Hartwig; Rudolf W Hendriks; Ronald de Groot; Jacques J M van Dongen
Journal:  Pediatr Res       Date:  2002-02       Impact factor: 3.756

3.  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

4.  Stable interactions between DNA polymerase δ catalytic and structural subunits are essential for efficient DNA repair.

Authors:  Clémentine Brocas; Jean-Baptiste Charbonnier; Claudine Dhérin; Serge Gangloff; Laurent Maloisel
Journal:  DNA Repair (Amst)       Date:  2010-09-01

5.  Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

Authors:  Sahar Elouej; Ana Beleza-Meireles; Richard Caswell; Kevin Colclough; Sian Ellard; Jean Pierre Desvignes; Christophe Béroud; Nicolas Lévy; Shehla Mohammed; Annachiara De Sandre-Giovannoli
Journal:  Metabolism       Date:  2017-03-28       Impact factor: 8.694

6.  Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.

Authors:  Margot A Cousin; Matthew J Smith; Ashley N Sigafoos; Jay J Jin; Marine I Murphree; Nicole J Boczek; Patrick R Blackburn; Gavin R Oliver; Ross A Aleff; Karl J Clark; Eric D Wieben; Avni Y Joshi; Pavel N Pichurin; Roshini S Abraham; Eric W Klee
Journal:  J Clin Immunol       Date:  2018-04-18       Impact factor: 8.317

7.  Regulation of the TCRalpha repertoire by the survival window of CD4(+)CD8(+) thymocytes.

Authors:  Jian Guo; Abbas Hawwari; Hong Li; Zuoming Sun; Sanjeev K Mahanta; Dan R Littman; Michael S Krangel; You-Wen He
Journal:  Nat Immunol       Date:  2002-04-22       Impact factor: 25.606

8.  PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects.

Authors:  Aurélie Berland; Jérémie Rosain; Sophie Kaltenbach; Vincent Allain; Nizar Mahlaoui; Isabelle Melki; Alice Fievet; Catherine Dubois d'Enghien; Marie Ouachée-Chardin; Laurence Perrin; Nathalie Auger; Funda Erol Cipe; Andrea Finocchi; Figen Dogu; Felipe Suarez; Despina Moshous; Thierry Leblanc; Alexandre Belot; Claire Fieschi; David Boutboul; Marion Malphettes; Lionel Galicier; Eric Oksenhendler; Stéphane Blanche; Alain Fischer; Patrick Revy; Dominique Stoppa-Lyonnet; Capucine Picard; Jean-Pierre de Villartay
Journal:  J Allergy Clin Immunol       Date:  2018-06-12       Impact factor: 10.793

9.  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

10.  The FoldX web server: an online force field.

Authors:  Joost Schymkowitz; Jesper Borg; Francois Stricher; Robby Nys; Frederic Rousseau; Luis Serrano
Journal:  Nucleic Acids Res       Date:  2005-07-01       Impact factor: 16.971
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  1 in total

Review 1.  Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

Authors:  Megan Schmit; Anja-Katrin Bielinsky
Journal:  Int J Mol Sci       Date:  2021-01-18       Impact factor: 5.923
  1 in total

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