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1. 遺伝性球状赤血球症：溶血の機序および原因 hereditary spherocytosis mechanism of hemolysis and pathogenesis
2. 赤血球細胞膜の動態および機構 red blood cell membrane dynamics and organization
3. 遺伝性球状赤血球症：臨床的特徴、診断および治療 hereditary spherocytosis clinical features diagnosis and treatment
4. 赤血球表面抗原および細胞骨格蛋白質の異常によるマラリアに対する防御 protection against malaria by abnormalities in red cell surface antigens and cytoskeletal proteins
5. 小児における溶血性貧血の概要 overview of hemolytic anemias in children

Involvement of Relish gene from Macrobrachium rosenbergii in the expression of anti-microbial peptides.

Shi YR1, Jin M2, Ma FT1, Huang Y1, Huang X1, Feng JL1, Zhao LL1, Chen YH3, Ren Q4.
Developmental and comparative immunology.Dev Comp Immunol.2015 Oct;52(2):236-44. doi: 10.1016/j.dci.2015.05.008. Epub 2015 May 27.
Relish is an NF-kB transcription factor involved in immune-deficiency (IMD) signal pathway. In this study, a Relish gene (MrRelish) was identified from Macrobrachium rosenbergii. The full length of MrRelish comprises 5072 bp, including a 3510 bp open reading frame encoding a 1169 bp amino acid prote
PMID 26026243

Ankyrin-B metabolic syndrome combines age-dependent adiposity with pancreatic β cell insufficiency.

Lorenzo DN, Healy JA, Hostettler J, Davis J, Yang J, Wang C, Hohmeier HE, Zhang M, Bennett V.
The Journal of clinical investigation.J Clin Invest.2015 Aug 3;125(8):3087-102. doi: 10.1172/JCI81317. Epub 2015 Jul 13.
Rare functional variants of ankyrin-B have been implicated in human disease, including hereditary cardiac arrhythmia and type 2 diabetes (T2D). Here, we developed murine models to evaluate the metabolic consequences of these alterations in vivo. Specifically, we generated knockin mice that express e
PMID 26168218

Gee HY, Zhang F, Ashraf S, Kohl S, Sadowski CE, Vega-Warner V, Zhou W, Lovric S, Fang H, Nettleton M, Zhu JY, Hoefele J, Weber LT, Podracka L, Boor A, Fehrenbach H, Innis JW, Washburn J, Levy S, Lifton RP, Otto EA, Han Z, Hildebrandt F.
The Journal of clinical investigation.J Clin Invest.2015 Jun;125(6):2375-84. doi: 10.1172/JCI79504. Epub 2015 May 11.
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of progressive renal function decline and affects millions of people. In a recent study, 30% of SRNS cases evaluated were the result of monogenic mutations in 1 of 27 different genes. Here, using homozygosity mapping and whole-exome seq
PMID 25961457

Extramedullary Hematopoiesis in Hereditary Spherocytosis Deficient in Ankyrin : A Case Report

中西秀和
川崎医学会誌 28(2), 73-82, 2002
… は全体の30-50%を占めていると推察された.これらANK-1遺伝子異常を有する症例における赤血球膜蛋白分析の成績では,ankyrin蛋白欠損型を呈した症例は無く,一方でprotein4.2(P4.2)単独部分欠損を呈した症例が17例(85%)認められた.よって,日本人に特徴的とされるP4.2単独部分欠損を伴うHSでは,その多くがankyrin遺伝子異常を有しており,ankyrinがP4.2の安定性に関与している可能性が示唆された. …
NAID 110001042932

Higher incidence of isolated or combined deficiency of band 3 and/or band 4.2 in hereditary spherocytosis(HS)

関: absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve