三核苷酸重复序列的扩展世界。 - Suppr

Suppr

超能文献

The expanding world of trinucleotide repeats.

作者信息

Warren S T

机构信息

Howard Hughes Medical Institute, Atlanta, GA 30322, USA.

出版信息

Science. 1996 Mar 8;271(5254):1374-5. doi: 10.1126/science.271.5254.1374.

DOI:10.1126/science.271.5254.1374

PMID:8596908

Abstract

摘要

相似文献

The expanding world of trinucleotide repeats.

Science. 1996 Mar 8;271(5254):1374-5. doi: 10.1126/science.271.5254.1374.

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

Science. 1996 Mar 8;271(5254):1423-7. doi: 10.1126/science.271.5254.1423.

The molecular basis of Friedreich ataxia.

Neurologia. 2000 Oct;15(8):325-9.

Comparison of the number of triplets in SCA1, MJD/SCA3, HD, SBMA, DRPLA, MD, FRAXA and FRDA genes in schizophrenic patients and a healthy population.

Am J Med Genet. 2000 Dec 4;96(6):884-7. doi: 10.1002/1096-8628(20001204)96:6<884::aid-ajmg41>3.0.co;2-m.

Inherited neurodegenerative disorders caused by CAG/polyglutamine tract expansions: symposium introduction.

Brain Pathol. 1997 Jul;7(3):877-80. doi: 10.1111/j.1750-3639.1997.tb00891.x.

[Molecular basis of Friedreich disease].

Zh Nevrol Psikhiatr Im S S Korsakova. 2003;103(2):61-7.

Genetic abnormalities in Friedreich's ataxia.

N Engl J Med. 1997 Apr 3;336(14):1021; author reply 1022. doi: 10.1056/NEJM199704033361412.

Hemiparesis and absent MRI findings in Freidreich's ataxia.

J Coll Physicians Surg Pak. 2014 Nov;24(11):875-6.

Trinucleotide (GAA)n repeat expansion in two families with Friedreich's ataxia with retained reflexes.

J Neurol Neurosurg Psychiatry. 1997 Dec;63(6):780-3. doi: 10.1136/jnnp.63.6.780.

[Friedreich's ataxia].

Ryoikibetsu Shokogun Shirizu. 1999(27 Pt 2):212-4.

引用本文的文献

Deletions across the SARS-CoV-2 Genome: Molecular Mechanisms and Putative Functional Consequences of Deletions in Accessory Genes.

Microorganisms. 2023 Jan 16;11(1):229. doi: 10.3390/microorganisms11010229.

Identification of novel polymorphism in buffalo stanniocalcin-1 gene and its expression analysis in mammary gland under different stages of lactation.

J Genet. 2019 Jun;98(2).

Engineering of an elastic scaffolding polyprotein based on an SH3-binding intrinsically disordered titin PEVK module.

Protein Expr Purif. 2012 Oct;85(2):187-99. doi: 10.1016/j.pep.2012.08.003. Epub 2012 Aug 14.

DNA triplex structures in neurodegenerative disorder, Friedreich's ataxia.

J Biosci. 2012 Jul;37(3):519-32. doi: 10.1007/s12038-012-9219-1.

Mapping iron binding sites on human frataxin: implications for cluster assembly on the ISU Fe-S cluster scaffold protein.

J Biol Inorg Chem. 2008 Jun;13(5):825-36. doi: 10.1007/s00775-008-0369-4. Epub 2008 Apr 19.

FXTAS: a bad RNA and a hope for a cure.

Expert Opin Biol Ther. 2008 Mar;8(3):249-53. doi: 10.1517/14712598.8.3.249.

Molecular basis of genetic neuropsychiatric disorders.

Child Adolesc Psychiatr Clin N Am. 2007 Jul;16(3):541-56. doi: 10.1016/j.chc.2007.03.003.

AIB1 gene amplification and the instability of polyQ encoding sequence in breast cancer cell lines.

BMC Cancer. 2006 May 2;6:111. doi: 10.1186/1471-2407-6-111.

Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia.

Am J Hum Genet. 2004 Jul;75(1):3-16. doi: 10.1086/422014. Epub 2004 May 19.

Compound microsatellite repeats: practical and theoretical features.

Genome Res. 1999 Sep;9(9):830-8. doi: 10.1101/gr.9.9.830.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验