beige mutation

ベージュ変異

WordNet

1. (genetics) any event that changes genetic structure; any alteration in the inherited nucleic acid sequence of the genotype of an organism (同)genetic mutation, chromosomal_mutation
2. a change or alteration in form or qualities
3. of a light greyish-brown color
4. a very light brown (同)ecru

PrepTutorEJDIC

1. 変化,俸転 / (生物の)突然変異;その変種
2. ベージュ色(淡いとび色・黄色味を帯びた薄い茶色);ベージュ色の毛織物 / ベージュ色の

UpToDate Contents

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• 1. 遺伝性疾患の基本原則 basic principles of genetic disease
• 2. プロトロンビン遺伝子突然変異：血栓症リスクおよび診断 prothrombin gene mutation thrombotic risk and diagnosis
• 3. 最新の診療アップデート practice changing updates
• 4. 上皮成長因子受容体変異を有する進行非小細胞肺癌に対する全身療法 systemic therapy for advanced non small cell lung cancer with an activating mutation in the epidermal growth factor receptor
• 5. Hereditary thrombotic thrombocytopenic purpura (TTP)

English Journal

• Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity.

• Massaad MJ, Zhou J, Tsuchimoto D, Chou J, Jabara H, Janssen E, Glauzy S, Olson BG, Morbach H, Ohsumi TK, Schmitz K, Kyriacos M, Kane J, Torisu K, Nakabeppu Y, Notarangelo LD, Chouery E, Megarbane A, Kang PB, Al-Idrissi E, Aldhekri H, Meffre E, Mizui M, Tsokos GC, Manis JP, Al-Herz W, Wallace SS, Geha RS.
• The Journal of clinical investigation.J Clin Invest.2016 Nov 1;126(11):4219-4236. doi: 10.1172/JCI85647. Epub 2016 Oct 17.
• Alterations in the apoptosis of immune cells have been associated with autoimmunity. Here, we have identified a homozygous missense mutation in the gene encoding the base excision repair enzyme Nei endonuclease VIII-like 3 (NEIL3) that abolished enzymatic activity in 3 siblings from a consanguineous
• PMID 27760045

• LPS-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal IgM Phenotype and Low Number of B Cells.

• Shokri S1, Nabavi M1, Hirschmugl T2, Aghamohammadi A3, Arshi S1, Bemanian MH1, Fallahpour M1, Molatefi R1, Rekabi M1, Eslami N1, Ahmadian J1, Darabi K1, Sedighi GR1, Monajemzadeh M4, Modaresi M5, Parvaneh N3, Boztug K6, Rezaei N7.
• Acta medica Iranica.Acta Med Iran.2016 Oct;54(10):620-623.
• LPS-Responsive Beige-like Anchor (LRBA) deficiency is a disease which has recently been described in a group of patients with common variable immunodeficiency (CVID) in association with autoimmunity and/or inflammatory bowel disease (IBD)-like phenotype. We here describe a 10-year-old boy who experi
• PMID 27888588

• Atypical Manifestation of LPS-Responsive Beige-Like Anchor Deficiency Syndrome as an Autoimmune Endocrine Disorder without Enteropathy and Immunodeficiency.

• Bakhtiar S1, Ruemmele F2, Charbit-Henrion F2, Lévy E3, Rieux-Laucat F3, Cerf-Bensussan N4, Bader P1, Paetow U5.
• Frontiers in pediatrics.Front Pediatr.2016 Sep 14;4:98. doi: 10.3389/fped.2016.00098. eCollection 2016.
• Monogenic primary immunodeficiency syndromes can affect one or more endocrine organs by autoimmunity during childhood. Clinical manifestations include type 1 diabetes mellitus, hypothyroidism, adrenal insufficiency, and vitiligo. Lipopolysaccharide (LPS)-responsive beige-like anchor protein (LRBA) d
• PMID 27683652

Japanese Journal

• Effects of the beige mutation on respiratory tract infection with Pseudomonas aeruginosa in mice

• TANAKA E
• Ex. Lung Res. 20, 351-366, 1994
• NAID 30030496674

• Genetic Control of In vitro NK-activity and In vivo Resistance to Tumors

• KARRE Klas,KLEIN Gunnar O.,KIESSLING Rolf,KLEIN George
• Tokai journal of experimental and clinical medicine 8(5・6), 429-448, 1980-09-13
• … The beige (bg) mutation in C57B1 mice causes a partial impairment of NK-activity, and can therefore serve to evaluate whether NK-cells can contribute to resistance against syngeneic tumors in the normal intact host. … The bg mutation was also possible to study in T-cell free mice, by combining it with the nu mutation on a C57B1 background. …
• NAID 110004691057

Related Links

• The beige (Bg J ) mutation

Learn about the phenotype of the Bg mutation, including immunological deficiencies and biochemical lesions observed in carriers of the beige mutation. ... JAX Notes January 01, 1992 The beige (Bg J) mutation By ...

• The Chediak-Higashi (beige) mutation in two mouse strains ...

A mutation called beige, with a phenotype similar to that of the human Chediak-Higashi syndrome, has occurred independently in two inbred strains of mice. Beige-J (bgj) occurred as a spontaneous mutation in the C57B1 ...