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 timeworld mapnetwork 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：

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的特异性结合，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，由此推测孤独症与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