about
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephalyPolymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")Structural characterization of filaments formed by human Xrcc4-Cernunnos/XLF complex involved in nonhomologous DNA end-joiningRTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stabilityFunction of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndromeXIAP deficiency in humans causes an X-linked lymphoproliferative syndromeInterferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infectionSevere hematologic complications after lung transplantation in patients with telomerase complex mutations.Delineation of the Xrcc4-interacting region in the globular head domain of cernunnos/XLF.Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesisHuman RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorderCernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1.Interplay between Cernunnos-XLF and nonhomologous end-joining proteins at DNA ends in the cell.Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination.Hyper-immunoglobulin-M syndromes caused by an intrinsic B cell defect.Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.Human models of inherited immunoglobulin class switch recombination and somatic hypermutation defects (hyper-IgM syndromes).Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects.A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair.The repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models.Retinoids regulate survival and antigen presentation by immature dendritic cells.RAG2 and XLF/Cernunnos interplay reveals a novel role for the RAG complex in DNA repairCernunnos deficiency reduces thymocyte life span and alters the T cell repertoire in mice and humans.Cernunnos-XLF, a recently identified non-homologous end-joining factor required for the development of the immune system.A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency.DNA repair and the immune system: From V(D)J recombination to aging lymphocytes.V(D)J and immunoglobulin class switch recombinations: a paradigm to study the regulation of DNA end-joining.Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation.Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations.T cell adhesion lowers the threshold for antigen detection.Expanding the SRI domain family: a common scaffold for binding the phosphorylated C-terminal domain of RNA polymerase II.A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia.The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains.
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hulumtues
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հետազոտող
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Patrick Revy
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Patrick Revy
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Patrick Revy
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Patrick Revy
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Patrick Revy
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Patrick Revy
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Patrick Revy
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Patrick Revy
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Patrick Revy
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Patrick Revy
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Patrick Revy
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Patrick Revy
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Patrick Revy
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P106
P21
P31
P496
0000-0003-0758-8022