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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
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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 |
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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 |
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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 |
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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 |
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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 |
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:
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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。
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