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Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34493-1
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- Publication type:
- Article
Impaired telomere integrity and rRNA biogenesis in PARN‐deficient patients and knock‐out models.
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- EMBO Molecular Medicine, 2019, v. 11, n. 7, p. N.PAG, doi. 10.15252/emmm.201810201
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- Publication type:
- Article
When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole-exome sequencing.
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- EMBO Molecular Medicine, 2015, v. 7, n. 7, p. 862, doi. 10.15252/emmm.201505307
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- Publication type:
- Article
The Expanding Spectrum of Human coronin 1A deficiency.
- Published in:
- Current Allergy & Asthma Reports, 2014, v. 14, n. 12, p. 1, doi. 10.1007/s11882-014-0481-1
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- Publication type:
- Article
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
- Published in:
- 2005
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- Publication type:
- journal article
Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.
- Published in:
- Nucleic Acids Research, 2015, v. 43, n. 3, p. 1834, doi. 10.1093/nar/gku1402
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- Publication type:
- Article
Translesion DNA synthesis-assisted non-homologous end-joining of complex double-strand breaks prevents loss of DNA sequences in mammalian cells.
- Published in:
- Nucleic Acids Research, 2009, v. 37, n. 20, p. 6737, doi. 10.1093/nar/gkp703
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- Publication type:
- Article
Requirement for XLF/Cernunnos in alignment-based gap filling by DNA polymerases λ and μ for nonhomologous end joining in human whole-cell extracts.
- Published in:
- Nucleic Acids Research, 2009, v. 37, n. 12, p. 4055, doi. 10.1093/nar/gkp283
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- Publication type:
- Article
Indispensable epigenetic control of thymic epithelial cell development and function by polycomb repressive complex 2.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24158-w
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- Publication type:
- Article
RTEL1, une hélicase de l'ADN essentielle à la stabilité du génome.
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- Médecine Sciences, 2013, v. 29, n. 12, p. 1138, doi. 10.1051/medsci/20132912018
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- Publication type:
- Article
Nouvelles formes de dyskératoses congénitales: Le dysfonctionnement des télomères n’est pas systématiquement associé à une réduction de leur taille.
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- Médecine Sciences, 2012, v. 28, n. 6-7, p. 618, doi. 10.1051/medsci/2012286015
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- Publication type:
- Article
DNA replication stress triggers Rapid DNA Replication Fork Breakage by Artemis and XPF.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 7, p. 1, doi. 10.1371/journal.pgen.1007541
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- Publication type:
- Article
CD8 Memory Cells Develop Unique DNA Repair Mechanisms Favoring Productive Division.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0140849
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- Publication type:
- Article
Impaired Replication Stress Response in Cells from Immunodeficiency Patients Carrying Cernunnos/XLF Mutations.
- Published in:
- PLoS ONE, 2009, v. 4, n. 2, p. 1, doi. 10.1371/journal.pone.0004516
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- Publication type:
- Article
The V(D)J Recombination/DNA Repair Factor Artemis Belongs to the Metallo-β-Lactamase Family and Constitutes a Critical Developmental Checkpoint of the Lymphoid System.
- Published in:
- Annals of the New York Academy of Sciences, 2003, v. 987, n. 1, p. 150, doi. 10.1111/j.1749-6632.2003.tb06043.x
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- Publication type:
- Article
Deletion of the human T-cell receptor δ-gene by a site-specific recombination.
- Published in:
- Nature, 1988, v. 335, n. 6186, p. 170, doi. 10.1038/335170a0
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- Publication type:
- Article
An XRCC4 mutant mouse, a model for human X4 syndrome, reveals interplays with Xlf, PAXX, and ATM in lymphoid development.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.69353
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- Publication type:
- Article
Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation.
- Published in:
- Pediatric Transplantation, 2012, v. 16, n. 5, p. E167, doi. 10.1111/j.1399-3046.2011.01491.x
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- Publication type:
- Article
Cernunnos/Xlf Deficiency Results in Suboptimal V(D)J Recombination and Impaired Lymphoid Development in Mice.
- Published in:
- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00443
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- Publication type:
- Article
The mechanisms of immune diversification and their disorders.
- Published in:
- Nature Reviews Immunology, 2003, v. 3, n. 12, p. 962, doi. 10.1038/nri1247
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- Publication type:
- Article
Severe combined immunodeficiency. A model disease for molecular immunology and therapy.
- Published in:
- Immunological Reviews, 2005, v. 203, n. 1, p. 98, doi. 10.1111/j.0105-2896.2005.00223.x
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- Publication type:
- Article
Artemis sheds new light on V(D)J recombination.
- Published in:
- Immunological Reviews, 2004, v. 200, n. 1, p. 142, doi. 10.1111/j.0105-2896.2004.00169.x
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- Publication type:
- Article
Metallo‐β‐lactamase fold within nucleic acids processing enzymes: the β‐CASP family.
- Published in:
- Nucleic Acids Research, 2002, v. 30, n. 16, p. 3592, doi. 10.1093/nar/gkf470
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- Publication type:
- Article
Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency.
- Published in:
- 2021
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- Publication type:
- journal article
Mucosal-associated invariant T cell-rich congenic mouse strain allows functional evaluation.
- Published in:
- 2015
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- Publication type:
- journal article
Passera ou ne passera pas—accessibility is key.
- Published in:
- Nature Immunology, 2006, v. 7, n. 10, p. 1019, doi. 10.1038/ni1006-1019
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- Publication type:
- Article
Inborn errors of immunity caused by defects in the DNA damage response pathways: Importance of minimizing treatment‐related genotoxicity.
- Published in:
- Pediatric Allergy & Immunology, 2022, v. 33, n. 6, p. 1, doi. 10.1111/pai.13820
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- Publication type:
- Article
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.
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- Human Molecular Genetics, 2024, v. 33, n. 7, p. 612, doi. 10.1093/hmg/ddad210
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- Publication type:
- Article
RAG2 and XLF/Cernunnos interplay reveals a novel role for the RAG complex in DNA repair.
- Published in:
- Nature Communications, 2016, v. 7, n. 2, p. 10529, doi. 10.1038/ncomms10529
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- Publication type:
- Article
Lymphoma as an Exclusion Criteria for CVID Diagnosis Revisited.
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- Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 181, doi. 10.1007/s10875-022-01368-5
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- Publication type:
- Article
Diagnosis of 22q11.2 Deletion Syndrome and Artemis Deficiency in Two Children with T-B-NK+ Immunodeficiency.
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- Journal of Clinical Immunology, 2012, v. 32, n. 5, p. 1141, doi. 10.1007/s10875-012-9741-9
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- Publication type:
- Article
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal–Hreidarsson syndrome.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 6, p. 907, doi. 10.1093/hmg/ddaa011
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- Publication type:
- Article
Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 10, p. 1900, doi. 10.1093/hmg/ddx098
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- Publication type:
- Article
Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 16, p. 3239, doi. 10.1093/hmg/ddt178
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- Publication type:
- Article
Congenital defects in V(D)J recombination.
- Published in:
- British Medical Bulletin, 2015, v. 114, n. 1, p. 157, doi. 10.1093/bmb/ldv020
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- Publication type:
- Article
Stable and Functional Lymphoid Reconstitution in Artemis-deficient Mice Following Lentiviral Artemis Gene Transfer Into Hematopoietic Stem Cells.
- Published in:
- Molecular Therapy, 2008, v. 16, n. 8, p. 1490, doi. 10.1038/mt.2008.118
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- Publication type:
- Article
Restoration of Human B-cell Differentiation Into NOD-SCID Mice Engrafted With Gene-corrected CD34<sup>+</sup> Cells Isolated From Artemis or RAG1-deficient Patients.
- Published in:
- Molecular Therapy, 2008, v. 16, n. 2, p. 396, doi. 10.1038/sj.mt.6300353
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- Publication type:
- Article
Expanding the SRI domain family: A common scaffold for binding the phosphorylated C-terminal domain of RNA polymerase II.
- Published in:
- FEBS Letters, 2014, v. 588, n. 23, p. 4431, doi. 10.1016/j.febslet.2014.10.014
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- Publication type:
- Article
Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.
- Published in:
- Human Mutation, 2016, v. 37, n. 5, p. 469, doi. 10.1002/humu.22966
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- Publication type:
- Article
Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound Heterozygous ATR Mutations.
- Published in:
- Human Mutation, 2013, v. 34, n. 2, p. 374, doi. 10.1002/humu.22245
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- Publication type:
- Article
DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype.
- Published in:
- Pediatric Allergy & Immunology, 2017, v. 28, n. 3, p. 298, doi. 10.1111/pai.12694
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- Publication type:
- Article
Late-onset combined immune deficiency due to LIGIV mutations in a 12-year-old patient.
- Published in:
- Pediatric Allergy & Immunology, 2017, v. 28, n. 2, p. 203, doi. 10.1111/pai.12684
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- Publication type:
- Article
A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 4, p. 583, doi. 10.1093/hmg/9.4.583
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- Publication type:
- Article
DNA repair and the immune system: From V(D)J recombination to aging lymphocytes.
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- European Journal of Immunology, 2007, v. 37, p. S71, doi. 10.1002/eji.200737396
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- Publication type:
- Article
Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.
- Published in:
- European Journal of Immunology, 2006, v. 36, n. 1, p. 224, doi. 10.1002/eji.200535401
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- Publication type:
- Article
Phosphorylation of Artemis following irradiation-induced DNA damage.
- Published in:
- European Journal of Immunology, 2004, v. 34, n. 11, p. 3146, doi. 10.1002/eji.200425455
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- Publication type:
- Article
TEA regulates local TCR-Jα accessibility through histone acetylation.
- Published in:
- European Journal of Immunology, 2003, v. 33, n. 8, p. 2216, doi. 10.1002/eji.200323867
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- Publication type:
- Article
A short peptide at the C terminus is responsible for the nuclear localization of RAG2.
- Published in:
- European Journal of Immunology, 2002, v. 32, n. 7, p. 2068, doi. 10.1002/1521-4141(200207)32:7<2068::AID-IMMU2068>3.0.CO;2-6
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- Publication type:
- Article
T early alpha (TEA) regulates initial TCRVAJA rearrangements and leads to TCRJA coincidence.
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- European Journal of Immunology, 2001, v. 31, n. 7, p. 2080, doi. 10.1002/1521-4141(200107)31:7<2080::AID-IMMU2080>3.0.CO;2-H
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- Publication type:
- Article
RORγT, a thymus-specific isoform of the orphan nuclear receptor RORγ / TOR, is up-regulated by signaling through the pre-T cell receptor and binds to the TEA promoter.
- Published in:
- European Journal of Immunology, 1999, v. 29, n. 12, p. 4072, doi. 10.1002/(SICI)1521-4141(199912)29:12<4072::AID-IMMU4072>3.0.CO;2-E
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- Publication type:
- Article