同: RAG-1

WordNet

(genetics) a segment of DNA that is involved in producing a polypeptide chain; it can include regions preceding and following the coding DNA as well as introns between the exons; it is considered a unit of heredity; "genes were formerly called factors" (同)cistron, factor
informal term for information; "give me the gen on your new line of computers"
causing motion or action or change (同)actuating

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1. T-B-NK+ SCID：マネージメントt b nk scid management [show details]
…appears better in patients with T-B-NK+ SCID who do not have radiation sensitivity (ie, recombinase-activating gene SCID [RAG-SCID]) and who receive myeloablative or reduced-intensity conditioning. However …
2. 先天性免疫異常症/原発性免疫不全症患者における自己免疫autoimmunity in patients with inborn errors of immunity primary immunodeficiency [show details]
…products of recombinase-activating genes 1 and 2 (RAG1 and RAG2) mediate the creation of double-stranded DNA breaks at the sites of recombination and signal sequences during T and B cell receptor gene rearrangement …
3. 免疫遺伝学immunoglobulin genetics [show details]
… the same in V gene recombination and class-switching. However, the heptamer and nonamer V gene recombination sequences and S sequences are very different, and recombinase activating genes 1 and 2 (RAG1 …
4. T細胞受容体シグナル伝達t cell receptor signaling [show details]
…a functional gene in a process known as V(D)J recombination (somatic recombination of the variable, diverse, and joining gene segments). This is dependent upon recombinase-activating genes 1 and 2 (RAG1 …
5. 小児の紅皮症erythroderma in children [show details]
…(cellular and humoral immunity) due to mutation in multiple genes, including interleukin receptor common gamma chain, recombinase activating gene (RAG) 1 or 2, adenosine deaminase, and Janus kinase 3. Omenn …

English Journal

Intestinal epithelial cell endoplasmic reticulum stress promotes MULT1 up-regulation and NKG2D-mediated inflammation.

Hosomi S1,2, Grootjans J1,3, Tschurtschenthaler M4, Krupka N1, Matute JD1,5, Flak MB1, Martinez-Naves E6, Gomez Del Moral M7, Glickman JN8, Ohira M2, Lanier LL9,10, Kaser A11, Blumberg R12.
The Journal of experimental medicine.J Exp Med.2017 Jul 26. pii: jem.20162041. doi: 10.1084/jem.20162041. [Epub ahead of print]
PMID 28747426

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Dobbs K1, Tabellini G2, Calzoni E3, Patrizi O2, Martinez P4, Giliani SC3, Moratto D3, Al-Herz W5, Cancrini C6,7, Cowan M8, Bleesing J9, Booth C10, Buchbinder D11, Burns SO10,12, Chatila TA13, Chou J13, Daza-Cajigal V10, Ott de Bruin LM13, de la Morena M14, Di Matteo G6,7, Finocchi A6,7, Geha R13, Goyal RK15, Hayward A16, Holland S17, Huang CH18, Kanariou MG19, King A20, Kaplan B21, Kleva A21, Kuijpers TW22, Lee BW18, Lougaris V23, Massaad M13, Meyts I24, Morsheimer M25, Neven B26, Pai SY27, Plebani A23, Prockop S28, Reisli I29, Soh JY18, Somech R30, Torgerson TR31, Kim YJ32, Walter JE33, Gennery AR34,35, Keles S29, Manis JP36, Marcenaro E37, Moretta A37, Parolini S2, Notarangelo LD1.
Frontiers in immunology.Front Immunol.2017 Jul 17;8:798. doi: 10.3389/fimmu.2017.00798. eCollection 2017.
PMID 28769923

New insights into the evolutionary origins of the recombination-activating gene proteins and V(D)J recombination.

Carmona LM1, Schatz DG1,2.
The FEBS journal.FEBS J.2017 Jun;284(11):1590-1605. doi: 10.1111/febs.13990. Epub 2017 Jan 6.
PMID 27973733

Japanese Journal

Evaluation of Antitumor Effects of Folate-Conjugated Methyl-β-cyclodextrin in Melanoma

Biological and Pharmaceutical Bulletin 38(3), 374-379, 2015
NAID 130004872280

Complete arrest from pro-to pre-B cells in a case of B cell-negative severe combined immunodeficiency (SCID) without recombinase activating gene (RAG) mutations

Clin Exp Immunol 124, 461-464, 2001
NAID 30015016407

Expression of recombinase activating gene(RAG) -1 but not RAG-2 in murine early embryogenesis

Proceedings of Annual Meeting of JSIR 8(0), 93-96, 1994
NAID 130004628971

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Recombinase-activating gene 1 immunodeficiency: different ...

Abstract. We report different immunological phenotypes in three siblings from consanguineous family with recombinase-activating gene 1 (RAG1) gene mutations. Null mutations of RAG genes result in severe combined immunodeficiency (SCID) with absent T and B cells. Hypomorphic mutations with retained activity of RAG genes may lead to a 'leaky' SCID ...

Recombinase Activating Gene 1 Deficiencies Without ...

Complete recombinase activating gene (RAG) deficiency is associated with classical T (-)B (-)NK (+) SCID which is the most common phenotype of Turkish SCID patients. There is a broad spectrum of hypomorfic RAG mutations including Omenn syndrome, leaky or atypical SCID with expansion of γδ T cells, autoimmunity and cytomegalovirus (CMV) infections.