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Japanese case of diabetes mellitus and deafness with mutation in mitochondrial tRNA(Leu(UUR)) gene.

作者信息

Awata T, Matsumoto T, Iwamoto Y, Matsuda A, Kuzuya T, Saito T

出版信息

Lancet. 1993 May 15;341(8855):1291-2. doi: 10.1016/0140-6736(93)91204-y.

DOI:10.1016/0140-6736(93)91204-y
PMID:8098444
Abstract
摘要

相似文献

1
Japanese case of diabetes mellitus and deafness with mutation in mitochondrial tRNA(Leu(UUR)) gene.线粒体tRNA(亮氨酸(UUR))基因突变导致糖尿病和耳聋的日本病例。
Lancet. 1993 May 15;341(8855):1291-2. doi: 10.1016/0140-6736(93)91204-y.
2
Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.母系遗传的糖尿病和耳聋是糖尿病的一种独特亚型,与线粒体tRNA(Leu(UUR))基因中的单点突变有关。
Diabetes. 1994 Jun;43(6):746-51. doi: 10.2337/diab.43.6.746.
3
Mitochondrial diabetes mellitus: prevalence and clinical characterization of diabetes due to mitochondrial tRNA(Leu(UUR)) gene mutation in Japanese patients.线粒体糖尿病:日本患者中线粒体tRNA(Leu(UUR))基因突变所致糖尿病的患病率及临床特征
Diabetologia. 1994 May;37(5):504-10. doi: 10.1007/s001250050139.
4
Maternally inherited diabetes and deafness (MIDD): a distinct subtype of diabetes associated with a mitochondrial tRNA(Leu)(UUR) gene point mutation.母系遗传的糖尿病和耳聋(MIDD):一种与线粒体tRNA(Leu)(UUR)基因点突变相关的独特糖尿病亚型。
Muscle Nerve Suppl. 1995;3:S124-30. doi: 10.1002/mus.880181425.
5
Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) gene.糖尿病是tRNALeu(UUR)基因中线粒体DNA点突变的异质表型特征之一。
FEBS Lett. 1993 Apr 26;321(2-3):194-6. doi: 10.1016/0014-5793(93)80106-5.
6
Mitochondrial DNA [tRNA(Leu)(UUR)] mutation in a southern Italian diabetic population.
Diabetes Care. 1997 Apr;20(4):674-5. doi: 10.2337/diacare.20.4.674.
7
Diminished insulin secretory response to glucose but normal insulin and glucagon secretory responses to arginine in a family with maternally inherited diabetes and deafness caused by mitochondrial tRNA(LEU(UUR)) gene mutation.在一个因线粒体tRNA(亮氨酸(UUR))基因突变导致母系遗传糖尿病和耳聋的家族中,胰岛素对葡萄糖的分泌反应减弱,但胰岛素和胰高血糖素对精氨酸的分泌反应正常。
Diabetes Care. 2001 Jul;24(7):1253-8. doi: 10.2337/diacare.24.7.1253.
8
Mitochondrial 3243 BP mutation: a case report.线粒体3243碱基对突变:一例报告
Diabetes Nutr Metab. 2001 Dec;14(6):343-8.
9
[Diabetes mellitus with mitochondrial DNA tRNA(Leu)(UUR) mutation at 3256(C-T)].线粒体DNA亮氨酸转运RNA(UUR)第3256位(C-T)突变所致糖尿病
Nihon Rinsho. 1998 Jan;56 Suppl 3:530-3.
10
Prevalence of A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene in Japanese patients with diabetes mellitus and end stage renal disease.日本糖尿病合并终末期肾病患者线粒体tRNA(Leu(UUR))基因第3243位核苷酸A到G突变的患病率
J Hum Genet. 2001;46(6):330-4. doi: 10.1007/s100380170068.

引用本文的文献

1
Mitochondrial complex I and V gene polymorphisms in type II diabetes mellitus among high risk Mizo-Mongoloid population, Northeast India.印度东北部高危米佐 - 蒙古人种人群中2型糖尿病患者的线粒体复合体I和V基因多态性
Genes Environ. 2016 Mar 1;38:5. doi: 10.1186/s41021-016-0034-z. eCollection 2016.
2
Medical care from childhood to adulthood in type 1 and type 2 diabetes.1型和2型糖尿病患者从儿童期到成年期的医疗护理。
J Endocrinol Invest. 2001 Oct;24(9):692-707. doi: 10.1007/BF03343914.
3
Maternally inherited diabetes and deafness: a new diabetes subtype.
母系遗传的糖尿病和耳聋:一种新的糖尿病亚型。
Diabetologia. 1996 Apr;39(4):375-82. doi: 10.1007/BF00400668.
4
Pancreatic beta-cell secretory defect associated with mitochondrial point mutation of the tRNA(LEU(UUR)) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).与tRNA(亮氨酸(UUR))基因线粒体点突变相关的胰腺β细胞分泌缺陷:对七个患有线粒体脑肌病、乳酸酸中毒和卒中样发作(MELAS)家庭的研究
Diabetologia. 1994 Aug;37(8):818-25. doi: 10.1007/BF00404339.
5
Association of polymorphism in the interferon gamma gene with IDDM.干扰素γ基因多态性与胰岛素依赖型糖尿病的关联。
Diabetologia. 1994 Nov;37(11):1159-62. doi: 10.1007/BF00418381.