Rett syndrome and the MECP2 gene.
作者信息
Webb T, Latif F
机构信息
Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham, Birmingham, UK.
出版信息
J Med Genet. 2001 Apr;38(4):217-23. doi: 10.1136/jmg.38.4.217.
Abstract
摘要
相似文献
1
Rett syndrome and the MECP2 gene.雷特综合征与MECP2基因。
J Med Genet. 2001 Apr;38(4):217-23. doi: 10.1136/jmg.38.4.217.
2
Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome.雷特综合征患者甲基-CpG结合蛋白2基因（MECP2）的突变分析。
J Med Genet. 2000 Aug;37(8):608-10. doi: 10.1136/jmg.37.8.608.
3
MECP2 mutations in Swedish Rett syndrome clusters.
Clin Genet. 2002 May;61(5):384-5. doi: 10.1034/j.1399-0004.2002.610512.x.
4
Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome.在丹麦雷特综合征患者中发现的MECP2基因第1外显子内的突变。
Clin Genet. 2005 Jun;67(6):532-3. doi: 10.1111/j.1399-0004.2005.00444.x.
5
[Functional significance of MeCP2 mutations in patients with Rett syndrome].[雷特综合征患者中MeCP2突变的功能意义]
No To Hattatsu. 2002 May;34(3):224-9.
6
Methyl-CpG-binding protein 2 mutations in Rett syndrome.雷特综合征中的甲基化CpG结合蛋白2突变
Curr Opin Genet Dev. 2000 Jun;10(3):275-9. doi: 10.1016/s0959-437x(00)00083-6.
7
De novo MECP2 mutation in a 46,XX male patient with Rett syndrome.
Neurogenetics. 2002 Oct;4(2):107-8. doi: 10.1007/s10048-002-0137-5.
8
Mutation analysis of the MECP2 gene in patients with Rett syndrome.
Am J Med Genet A. 2003 Mar 1;117A(2):184-7. doi: 10.1002/ajmg.a.10898.
9
Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome.MECP2基因的突变分析及雷特综合征的遗传咨询
J Med Genet. 2003 May;40(5):380-4. doi: 10.1136/jmg.40.5.380.
10
Screening for mutations in the MECP2 (Rett syndrome) gene in Gilles de la Tourette syndrome.在抽动秽语综合征中筛查MECP2（雷特综合征）基因突变。
Arch Neurol. 2003 Apr;60(4):502-3. doi: 10.1001/archneur.60.4.502.
引用本文的文献
1
MeCP2 dysfunction prevents proper BMP signaling and neural progenitor expansion in brain organoid.MeCP2 功能障碍可阻止脑类器官中 BMP 信号的正常传递和神经祖细胞的扩增。
Ann Clin Transl Neurol. 2023 Jul;10(7):1170-1185. doi: 10.1002/acn3.51799. Epub 2023 Jun 11.
2
Male infertility and genitourinary birth defects: there is more than meets the eye.男性不育与泌尿生殖系统先天缺陷：并非表面所见那么简单。
Fertil Steril. 2020 Aug;114(2):209-218. doi: 10.1016/j.fertnstert.2020.06.042.
3
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.漏诊：从未解疾病网络解决的医学之谜中吸取的临床相关教训。
Mol Genet Genomic Med. 2020 Oct;8(10):e1397. doi: 10.1002/mgg3.1397. Epub 2020 Jul 30.
4
The molecular genetics of autism spectrum disorders: genomic mechanisms, neuroimmunopathology, and clinical implications.自闭症谱系障碍的分子遗传学：基因组机制、神经免疫病理学及临床意义。
Autism Res Treat. 2011;2011:398636. doi: 10.1155/2011/398636. Epub 2011 May 17.
5
Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome.强烈建议对患有雷特综合征的男性和女性患者进行FOXG1分析。
Mol Syndromol. 2011 Sep;1(6):290-293. doi: 10.1159/000330755. Epub 2011 Aug 9.
6
The impact of MECP2 mutations in the expression patterns of Rett syndrome patients.MECP2突变对雷特综合征患者表达模式的影响。
Hum Genet. 2005 Jan;116(1-2):91-104. doi: 10.1007/s00439-004-1200-0. Epub 2004 Nov 11.
7
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.CDKL5基因突变会导致一种伴有婴儿痉挛和智力迟钝的严重神经发育障碍。
Am J Hum Genet. 2004 Dec;75(6):1079-93. doi: 10.1086/426462. Epub 2004 Oct 18.
8
Methylation matters.甲基化至关重要。
J Med Genet. 2001 May;38(5):285-303. doi: 10.1136/jmg.38.5.285.
本文引用的文献
1
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.与编码甲基化CpG结合蛋白的基因MECP2突变相关的天使综合征表型。
J Med Genet. 2001 Apr;38(4):224-8. doi: 10.1136/jmg.38.4.224.
2
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.一名男性非致命性、非进行性脑病中的MECP2突变
J Med Genet. 2001 Mar;38(3):171-4. doi: 10.1136/jmg.38.3.171.
3
Chromatin modification and disease.染色质修饰与疾病
J Med Genet. 2000 Dec;37(12):905-15. doi: 10.1136/jmg.37.12.905.
4
Two affected boys in a Rett syndrome family: clinical and molecular findings.一个雷特综合征家族中的两名患病男孩：临床及分子学发现。
Neurology. 2000 Oct 24;55(8):1188-93. doi: 10.1212/wnl.55.8.1188.
5
Functional consequences of Rett syndrome mutations on human MeCP2.雷特综合征突变对人类MeCP2的功能影响。
Nucleic Acids Res. 2000 Nov 1;28(21):4172-9. doi: 10.1093/nar/28.21.4172.
6
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.通过变性高效液相色谱法（DHPLC）和MECP2基因直接测序分析对雷特综合征进行诊断检测：几种新突变和多态性的鉴定。
Am J Hum Genet. 2000 Dec;67(6):1428-36. doi: 10.1086/316913. Epub 2000 Oct 30.
7
MECP2 mutation in male patients with non-specific X-linked mental retardation.非特异性X连锁智力障碍男性患者中的MECP2基因突变
FEBS Lett. 2000 Sep 22;481(3):285-8. doi: 10.1016/s0014-5793(00)01994-3.
8
Rett syndrome: a surprising result of mutation in MECP2.雷特综合征：MECP2基因突变的惊人结果。
Hum Mol Genet. 2000 Oct;9(16):2365-75. doi: 10.1093/hmg/9.16.2365.
9
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.患有雷特综合征的一组女孩中MECP2基因的突变。
J Med Genet. 2000 Aug;37(8):610-2. doi: 10.1136/jmg.37.8.610.
10
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.瑞特综合征基因MECP2发生突变会导致男性出现X连锁智力迟钝和进行性痉挛。
Am J Hum Genet. 2000 Oct;67(4):982-5. doi: 10.1086/303078. Epub 2000 Sep 12.
Zotero 插件