Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome

被引：47
|
作者：
Obata, K
Matsuishi, T
Yamashita, Y
Fukuda, T
Kuwajima, K
Horiuchi, I
Nagamitsu, S
Iwanaga, R
Kimura, A
Omori, I
Endo, S
Mori, K
Kondo, I
机构：
[1] Kurume Univ, Sch Med, Dept Paediat & Child Hlth, Kurume, Fukuoka 8300011, Japan
[2] Ibaraki Handicapped Childrens Ctr, Dept Paediat, Mito, Ibaraki 3100008, Japan
[3] Asahigawa Jidoin Childrens Hosp, Okayama 7038555, Japan
[4] Okayama Univ, Sch Med, Dept Child Neurol, Okayama 7008558, Japan
[5] Natl Kagawa Childrens Hosp, Dept Paediat, Kagawa 7658501, Japan
[6] Univ Tokushima, Sch Med, Dept Paediat, Tokushima 7708503, Japan
来源：
JOURNAL OF MEDICAL GENETICS | 2000年 / 37卷 / 08期
关键词：
D O I：
10.1136/jmg.37.8.608
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：608 / 610
页数：3
相关论文
共 50 条
  • [21] Genetic association between methyl-CpG binding protein 2 (MECP2) and primary Sjogren's syndrome
    Cobb, Beth L.
    Fei, Yiping
    Jonsson, Roland
    Bolstad, Anne Isine
    Brun, Johan G.
    Rischmueller, Maureen
    Lester, Susan E.
    Witte, Torsten
    Illei, Gabor
    Brennan, Michael
    Bowman, Simon
    Moser, Kathy L.
    Harley, John B.
    Sawalha, Amr H.
    [J]. ANNALS OF THE RHEUMATIC DISEASES, 2010, 69 (09) : 1731 - 1732
  • [22] A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome
    Jan P. Buschdorf
    Wolf H. Strätling
    [J]. Journal of Molecular Medicine, 2004, 82 : 135 - 143
  • [23] The biological functions of the methyl-CpG-binding protein MeCP2 and its implication in Rett syndrome
    Nan, XH
    Bird, A
    [J]. BRAIN & DEVELOPMENT, 2001, 23 : S32 - S37
  • [24] A WW domain binding region in methyl-CpG-binding protein MeCP2:: impact on Rett syndrome
    Buschdorf, JP
    Strätling, WH
    [J]. JOURNAL OF MOLECULAR MEDICINE-JMM, 2004, 82 (02): : 135 - 143
  • [25] Esophageal motility disturbances in children with Rett syndrome: Correlation with X-linked methyl CPG binding protein (MeCP2) gene mutation
    不详
    [J]. JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 2005, 41 (04): : 520 - 521
  • [26] Proteomic identification of co-factors for the methyl-CpG binding protein, MeCP2
    Tsujimura, Keita
    Suzuki, Akiya
    Fukao, Yoichiro
    Fujiwara, Masayuki
    Nakashima, Kinichi
    [J]. NEUROSCIENCE RESEARCH, 2010, 68 : E351 - E351
  • [27] MeCP2 binding to DNA depends upon hydration at methyl-CpG
    Ho, Kok Lian
    McNae, Lain W.
    Schmiedeberg, Lars
    Klose, Robert J.
    Bird, Adrian P.
    Walkinshaw, Malcolm D.
    [J]. MOLECULAR CELL, 2008, 29 (04) : 525 - 531
  • [28] A novel mutation in the mutations in the methyl-CpG-binding protein 2 (MECP2) gene in a Chinese patient with typical Rett syndrome and subsequent prenatal diagnosis
    Ma, D. Y.
    Li, G.
    Luo, C. Y.
    Liu, A.
    Zhang, J. J.
    Hu, P.
    Cheng, J.
    Wang, Y. G.
    Jiang, T.
    Xu, J. F.
    [J]. CLINICAL AND EXPERIMENTAL OBSTETRICS & GYNECOLOGY, 2018, 45 (06): : 924 - 929
  • [29] Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA
    Ballestar, E
    Yusufzai, TM
    Wolffe, AP
    [J]. BIOCHEMISTRY, 2000, 39 (24) : 7100 - 7106
  • [30] Phenotypic description of Rett syndrome patients with MECP2 gene mutation
    Santander, P.
    Troncoso, M.
    Cardenas, J.
    Troncoso, L.
    Silva, S.
    Barrios, A.
    Parra, P.
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 2015, 357 : E443 - E443
12345