DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiencyReisli, IsmailTurkish Journal of Immunology
However, Artemis patients were more likely to have received MMRD donor origin HCT, and RAG1/RAG2 were more likely to have received MAC before HCT. Although survival in the 2 groups was comparable, late effects were seen in 70% of Artemis patients compared with 24% of RAG1/RAG2 patients...
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Synonyms A SCID, ARTEMIS, ASCID, DCLRE1C, DCLREC1C, hSNM1C, Protein A SCID, Protein artemis, RS SCID, SCIDA, SNM1 homolog C, SNM1 like protein, SNM1C Calculated Molecular Weight 692 aa, 78 kDa Observed Molecular Weight 60 kDa GenBank Accession Number BC022254 Gene Symbol DCLRE1C ...
DCLRE1C Antibody is a Rabbit Polyclonal against DCLRE1C. Target DCLRE1C Reactivity Human Origin Human Host Rabbit Clonality Polyclonal Tested Applications ELISA Immunogen Recombinant human Protein artemis protein (1-300AA) Purification Antigen Affinity Purified. Isotype IgG Conjugation Unconjugated ...
Artemis (ART; also known as DCLRE1C), is a nuclear protein and is essential for DSB end joining in DNA repair via the canonical non-homologous end joining (c-NHEJ) pathway. In this work, we tested whether ART deficiency affects DNA repair following CRISPR/Cas9 induced DSBs in somatic ...
Artemis deficiency precipitates a profound immunodeficiency syndrome, marked by radiosensitivity and compromised T and B lymphocyte functionality. Utilizing CRISPR/Cas9-mediated gene editing, we generated dclre1c-deficient mice with an NOD genetic background. These mice exhibited a radiosensitive SCID ...
DCLRE1Cgene mutation leads to Artemis deficiency, a severe form of combined immunodeficiency (SCID). Impaired DNA repair and block in early adaptive immunity maturation results in T-B-NK+immunodeficiency associated with radiosensitivity. Recurrent infections early in life are the main characteristic of...
Aim: Mutations in the DCLRE1C gene result in functional impairment of the Artemis protein and T/B cell development is adversely affected. As a result of this mutation, a clinic of severe combined and combined immunodeficiency (CID) generally occurs. In our region where con...
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency. J. Allergy Clin. Immunol. 2015, 136, 140-150. [CrossRef] [PubMed]Felgentreff K, Lee YN, Frugoni F, Du L, van der Burg M, Giliani S, et al. Functional ...