许培扬博客分享 http://blog.sciencenet.cn/u/xupeiyang 跟踪国际前沿 服务国内科研

博文

精准医疗----雷特综合征(Rett syndrome)的信息分析与知识发现

已有 3899 次阅读 2015-8-5 07:06 |个人分类:知识发现|系统分类:科研笔记

 

信息检索、数据分析、知识发现都是科研人员的必备技能,一旦掌握,事半功倍。

许培扬 知识发现系列博文  http://blog.sciencenet.cn/home.php?mod=space&uid=280034&do=blog&classid=115378&view=me&from=space

科学研究与知识发现  http://blog.sciencenet.cn/home.php?mod=space&uid=280034&do=blog&id=327994

 

研究进展参考文献

诸平  雷特综合症(Rett syndrome)治疗的新靶标                                                   精选 http://blog.sciencenet.cn/home.php?mod=space&uid=212210&do=blog&id=910557

http://doc.sciencenet.cn/DocInfo.aspx?id=23063

原文  http://www.jci.org/articles/view/80323

国际研究文献信息分析结果与知识发现

Rett syndrome国际研究文献2833篇分布如下:

statistics of 2,833 documents

123
Top Years
Publications
2014
196
2012
179
2013
170
2011
161
2001
146
2015
144
2009
138
2010
136
2005
126
2006
124
2007
118
2008
107
2003
96
1990
89
2002
88
2004
72
2000
62
1997
62
1999
59
1998
58
123
1234
Top Countries
Publications
United States
874
Italy
218
United Kingdom
155
Japan
152
Australia
131
France
112
Germany
109
Canada
96
Sweden
91
Spain
62
China
59
Netherlands
40
Brazil
37
Israel
36
Austria
30
India
25
South Korea
23
Switzerland
23
Denmark
20
Belgium
20
1234
123 ...24
Top Cities
Publications
Houston
129
Baltimore
104
Siena
90
Perth
72
Göteborg
60
Birmingham
52
Boston
51
Paris
50
Tokyo
42
Toronto
38
London
38
Los Angeles
36
Beijing
36
Göttingen
35
Sydney
32
Portland
31
Roma
29
Glasgow
28
Davis
28
Edinburgh
27
123 ...24
123 ...36
Top Journals
Publications
Brain Dev-jpn
241
J Child Neurol
116
Am J Med Genet A
89
Hum Mol Genet
57
Neuropediatrics
51
Dev Med Child Neurol
50
Pediatr Neurol
48
J Med Genet
43
Clin Genet
42
Plos One
41
J Neurosci
40
Am J Med Genet Suppl
40
Eur J Hum Genet
33
Neurobiol Dis
30
Eur Child Adolesc Psychiatry
29
J Autism Dev Disord
28
Neurology
28
Brain Dev
25
No To Hattatsu
25
Hum Genet
24
123 ...36
123 ...413
Top Terms
Publications
Rett Syndrome
2,713
Syndrome
2,616
Humans
2,273
Female
1,863
Mutation
1,289
Child
1,234
Genes
1,160
Patients
1,114
Methyl-CpG-Binding Protein 2
1,059
Methyl-CpG-binding protein 2
983
Child, Preschool
890
Proteins
843
Male
839
Adolescent
736
Animals
707
Phenotype
701
Research Report
682
Adult
632
Intellectual Disability
605
Mice
582
123 ...413
123 ...553
Top Authors
Publications
Leonard H
57
Naidu S
52
Zoghbi H
49
Kerr A
44
Christodoulou J
43
Percy A
39
Zappella M
38
Hagberg B
33
Glaze D
30
Segawa M
27
Ellaway C
25
Bienvenu T
23
Nomura Y
23
Renieri A
22
Hayek G
22
Johnston M
21
Witt Engerström I
21
Fyfe S
20
Chelly J
19
Huppke P
19
123 ...553
publications over timepublications over timeworld mapnetwork of top authorsnetwork of top authors

http://www.gopubmed.org/web/gopubmed/1?WEB013yge0vato9pyI9I1I00h001000d1002020000100100000011100040111

 

基因知识发现结果如下

A-query: Rett syndrome
C-query: Phenotype

The B-list contains title words and phrases (terms) that appeared in both the A and the C literature. 596 articles appeared in both literatures and were not included in the process of computing the B-list but can be viewed here. The results of this search are saved under id # 17491 and can be accessed from the start page after you leave this session. There are 477 terms on the current B-list (185 are predicted to be relevant), which is shown ranked according to predicted relevance. The list can be further trimmed down using the filters listed in the left margin.

To assess whether there appears to be a biologically significant relationship between the AB and BC literatures for specific B-terms, please select one or more B-terms and then click the button to view the corresponding AB and BC literatures. Use Ctrl to select multiple B-terms.

 

http://arrowsmith.psych.uic.edu/cgi-bin/arrowsmith_uic/edit_b.cgi

job id # 17491 started Tue Aug 4 18:39:47 2015
Max_citations: 50000
Stoplist: /var/www/arrowsmith_uic/data/stopwords_pubmed
Ngram_max: 3
A_query_raw: Rett syndromeTue Aug 4 18:39:53 2015

A query = Rett syndrome started Tue Aug 4 18:39:54 2015
A query resulted in 2833 titles
C_query_raw: Phenotype Tue Aug 4 18:40:51 2015

C: Phenotype 398960

A: Rett syndrome 2833

AC: ( Rett syndrome ) AND ( Phenotype ) 596

C_query_raw: Phenotype Tue Aug 4 18:42:33 2015

C: Phenotype 398960

A: Rett syndrome 2833

AC: ( Rett syndrome ) AND ( Phenotype ) 596

C query = Phenotype started Tue Aug 4 18:42:34 2015
C query resulted in 50000 titles
A AND C query resulted in 596 titles
6459 B-terms ready on Tue Aug 4 18:43:54 2015

Sem_filter:
Genes & Molecular Sequences, and Gene & Protein Names
477 B-terms left after filter executed Tue Aug 4 18:49:41 2015

B-list on Tue Aug 4 18:50:39 2015
1 mecp2
2 akt
3 mtor
4 mycn
5 ube3a
6 adiponectin
7 foxg1
8 microrna
9 leptin
10 exon
11 bdnf
12 gene autistic
13 chrna7
14 chromatin remodeling
15 stat3
16 huntingtin
17 trkb
18 snp
19 atrx
20 swi snf
21 candidate gene
22 histone deacetylase
23 tcf4
24 repressor
25 genome scan
26 cdkl5
27 cd8
28 ghrelin
29 hdac
30 promoter methylation
31 16s rrna
32 ryanodine receptor
33 5-ht1a
34 pi3k
35 transcription factor
36 metabolic syndrome
37 gene tunisian
38 cgh
39 genome wide
40 gene patient
41 rrna
42 lsd1
43 dlx5
44 16s
45 gene silencing
46 dna methyltransferase
47 foxp3
48 gene chinese
49 genomic imprinting
50 cyclin dependent kinase
51 gene autism
52 frameshift
53 bromodomain
54 kaiso
55 adhd
56 cpg
57 id3
58 id4
59 gastrin releasing peptide
60 nrf2
61 bone mineral density
62 epac
63 body mass index
64 gsk3beta
65 siv
66 creb
67 cyclin
68 connexin
69 mb
70 atm
71 dsm
72 adnp
73 sequencing gene
74 g quadruplex
75 id1
76 mitochondrial genome
77 rac1
78 statin
79 epigenetic gene
80 brg1
81 pcr
82 transgene
83 igf-1
84 rna binding protein
85 glia
86 dlx6
87 synapsin
88 snf
89 isoform
90 twin
91 rnai
92 ncrna
93 epilepsy
94 allele
95 ubiquitin
96 gene identification
97 promoter
98 rna binding
99 pufa
100 targeted gene
101 ptp1b
102 trpc6
103 alu
104 gene italian
105 grpr
106 id2
107 icf
108 notch
109 binding protein gene
110 gene involved
111 cytokine
112 enhancer
113 igf1
114 ips
115 hap1
116 genomic
117 codon
118 bdnf gene
119 egr2
120 spastic
121 diabetes
122 anxiety
123 methyltransferase
124 histone
125 dna binding protein
126 parvalbumin
127 ca3
128 gene not
129 ncor
130 protein gene
131 receptor gene
132 gabaa
133 imprinted gene
134 gene silencing human
135 cd4
136 mlpa
137 gene a
138 genome
139 macrophage gene
140 dna binding
141 receptor tyrosine kinase
142 ataxia telangiectasia mutated
143 body mass
144 triplet repeat
145 function allele
146 rna
147 l1
148 trait
149 open reading frame
150 microtubule associated protein
151 tuberous sclerosis
152 promoter activity
153 domain
154 bone mineral content
155 promoter region
156 gene knockout
157 gene brain
158 h4
159 bromodomain containing
160 cdna
161 mri
162 hla
163 copy
164 locus
165 gene associated
166 synapsin i
167 reduced expression
168 bcl-2
169 opioid receptor gene
170 map
171 opioid receptor
172 senescence
173 catalytic domain
174 related gene
175 3p
176 disease gene
177 protocadherin
178 s6
179 jc
180 beta actin
181 glucose transporter
182 spike wave
183 transporter
184 altered gene
185 tyrosine kinase

http://arrowsmith.psych.uic.edu/cgi-bin/arrowsmith_uic/view_b_txt.cgi?ID=17491

MECP2基因与Rett综合征研究课题如下:

 

StartA-LiteratureC-LiteratureB-listFilterLiterature

AB literature

 

B-term

 

BC literature

 

Rett syndromemecp2Phenotype
1:Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene. 2015
Add to clipboard

2: Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2(308/y) Mouse Model. 2015
Add to clipboard

3: Mechanisms of Functional Hypoconnectivity in the Medial Prefrontal Cortex of Mecp2 Null Mice. 2015
Add to clipboard

4: Reading the unique DNA methylation landscape of the brain: Non-CpG methylation, hydroxymethylation, and MeCP2. 2015
Add to clipboard

5: Role of mecp2 in experience-dependent epigenetic programming. 2015
Add to clipboard

6:MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. 2015
Add to clipboard

7: Circadian Cycle-Dependent MeCP2 and Brain Chromatin Changes. 2015
Add to clipboard

8:MeCP2 in the Rostral Striatum Maintains Local Dopamine Content Critical for Psychomotor Control. 2015
Add to clipboard

9:MeCP2 plays an analgesic role in pain transmission through regulating CREB / miR-132 pathway. 2015
Add to clipboard

10: Brains, Blood, and Guts: MeCP2 Regulates Microglia, Monocytes, and Peripheral Macrophages. 2015
Add to clipboard

11: Correction for Chen et al., MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. 2015
Add to clipboard

12: Genotype-specific effects of Mecp2 loss-of-function on morphology of Layer V pyramidal neurons in heterozygous female Rett syndrome model mice. 2015
Add to clipboard

13:Mecp2 regulates neural cell differentiation by suppressing the Id1-Her2/Hes5 axis in zebrafish. 2015
Add to clipboard

14: Exploring the possible link between MeCP2 and oxidative stress in Rett syndrome. 2015
Add to clipboard

15: The methyl-CpG-binding domain (MBD) is crucial for MeCP2's dysfunction-induced defects in adult newborn neurons. 2015
Add to clipboard

16: Defects During Mecp2 Null Embryonic Cortex Development Precede the Onset of Overt Neurological Symptoms. 2015
Add to clipboard

17:MeCP2 in the enteric nervous system. 2015
Add to clipboard

18: Structural, Dynamical, and Energetical Consequences of Rett Syndrome Mutation R133C in MeCP2. 2015
Add to clipboard

19: Applying the ethoexperimental approach to neurodevelopmental syndrome research reveals exaggerated defensive behavior in Mecp2 mutant mice. 2015
Add to clipboard

20: Involvement of MeCP2 in Regulation of Myelin-Related Gene Expression in Cultured Rat Oligodendrocytes. 2015
Add to clipboard

21:MECP2, a gene associated with Rett syndrome in humans, shows conserved coding regions, independent Alu insertions, and a novel transcript across primate evolution. 2015
Add to clipboard

22: Cell-Specific Regulation of N-Methyl-D-Aspartate Receptor Maturation by Mecp2 in Cortical Circuits. 2015
Add to clipboard

23: Conditional depletion of methyl-CpG-binding protein 2 (MeCP2) in astrocytes depresses the hypercapnic ventilatory response (HCVR) in mice. 2015
Add to clipboard

24: Astrocyte Transcriptome from the Mecp2(308)-Truncated Mouse Model of Rett Syndrome. 2015
Add to clipboard

25: Cytokine Dysregulation in MECP2- and CDKL5-Related Rett Syndrome: Relationships with Aberrant Redox Homeostasis, Inflammation, and omega-3 PUFAs. 2015
Add to clipboard

26:MECP2 disorders: from the clinic to mice and back. 2015
Add to clipboard

27:MeCP2 is required for activity-dependent refinement of olfactory circuits. 2014
Add to clipboard

28: Loss of MeCP2 From Forebrain Excitatory Neurons Leads to Cortical Hyperexcitation and Seizures. 2014
Add to clipboard

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

http://arrowsmith.psych.uic.edu/cgi-bin/arrowsmith_uic/show_sentences.cgi

MeCP2(methyl  CpG  binding  protein  2)即甲基CpG结合蛋白2是蛋白世界的“金凤花(Goldilocks)。当这种蛋白缺乏或有缺陷时,女孩会在生命早期患上神经疾病即雷特综合症(Rett  syndrome)。而这种蛋白太多也会导致最近鉴定出的MeCP2重复综合症(MeCP2  duplication  syndrome),这种疾病通常会影响男孩,而且男孩可能是从他们的母亲身上遗传这种基因重复的或者是在罕见的情况下偶尔产生这种重复的。在这两种情况下,焦虑和社会行为缺失是患上该疾病的这些人的典型特征,同时还有其他的运动问题和认知缺陷。

生物谷报道:MECP2的突变可以导致持续性神经系统退化性疾病---Rett综合征。这个x-染色体连锁综合征(X-linked  syndrome)主要在女性身上体现,但相对温和的突变也可以导致男性的智力障碍(mental  retardation)。

知网:MeCP2蛋白是甲基化结合蛋白家族中的主要成员,通过与甲基化DNA特异性结合,抑制其下游靶基因的转录,起到转录调节的作用,因此是重要的转录抑制因子。当MeCP2基因功能异常时,则不能对相应的下游靶基因产生抑制作用,从而使基因的表达异常,导致疾病的发生。近年来的研究表明MeCP2基因的转录抑制作用具有特异性,仅作用于特异的靶基因。那么在MeCP2基因作用通路上不同环节(MeCP2基因自身或其下游靶基因)的异常可能会产生相似的临床表现,由此推测孤独症RTT可能是由于MeCP2基因作用通路上的不同环节异常所致。因此,探讨MeCP2基因及其下游靶基因与孤独症的相关性可能有助于揭示孤独症的发病机制。

归纳一下:
1)MeCP2基因位于X染色体,连锁遗传,主要在脑内表达,不仅与神经元发育有关,而且与突触的形成、分化有关。
2)MeCP2蛋白通过与甲基化DNA的特异性结合,抑制其下游靶基因的转录。

http://zhidao.baidu.com/link?url=AyrbnohPuM9CVPOJQuTonCU6y4UahSDPc7LrWcV3AB1uRzrcBCvLWtzak6tCOd_ExmhFTVp7vFRGcFyd0DvzJK

 

 



https://blog.sciencenet.cn/blog-280034-910671.html

上一篇:科技评价 无须派别
下一篇:办好期刊,学有榜样。发表论文,关注被引。
收藏 IP: 114.111.167.*| 热度|

0

该博文允许注册用户评论 请点击登录 评论 (2 个评论)

数据加载中...
扫一扫,分享此博文

Archiver|手机版|科学网 ( 京ICP备07017567号-12 )

GMT+8, 2024-12-29 21:30

Powered by ScienceNet.cn

Copyright © 2007- 中国科学报社

返回顶部