http://arrowsmith.psych.uic.edu/cgi-bin/arrowsmith_uic/edit_b.cgi?refresh=TID=2179 Start A-Literature C-Literature B-list Filter Literature A-query: Hypoglycemia C-query: gene Mutation The B-list contains title words and phrases (terms) that appeared in both the A and the C literature. 504 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 # 2179 and can be accessed from the start page after you leave this session. There are 22417 terms on the current B-list (3957 are predicted to be relevant 相关知识概念), 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 Start A-Literature C-Literature B-list Filter Literature A-query: Hypoglycemia C-query: gene Mutation The B-list contains title words and phrases (terms) that appeared in both the A and the C literature. 504 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 # 2179 and can be accessed from the start page after you leave this session. There are 1499 terms on the current B-list (530 are predicted to be relevant基因、序列分析、蛋白质知识概念), 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/view_b_txt.cgi?ID=2179 job id # 2179 started Wed Oct 26 20:52:00 2011 Max_citations: 50000 Stoplist: /var/www/html/arrowsmith_uic/data/stopwords_pubmed Ngram_max: 3 2179 Search ARROWSMITH A A_query_raw: Hypoglycemia Wed Oct 26 20:52:37 2011 A query = Hypoglycemia started Wed Oct 26 20:52:37 2011 A query resulted in 31933 titles 2179 Search ARROWSMITH C C_query_raw: gene Mutation Wed Oct 26 20:52:57 2011 C: gene Mutation 352061 A: pubmed_query_A 31933 AC: ( Hypoglycemia ) AND ( gene Mutation ) 504 C query = gene Mutation started Wed Oct 26 20:52:58 2011 C query resulted in 50000 titles A AND C query resulted in 504 titles 22417 B-terms ready on Wed Oct 26 20:57:41 2011 Sem_filter: Genes Molecular Sequences, and Gene Protein Names 1499 B-terms left after filter executed Wed Oct 26 21:07:47 2011 C_query_raw: Wed Oct 26 21:08:43 2011 C: A: pubmed_query_A 31933 AC: ( Hypoglycemia ) AND ( ) 31933 A_query_raw: Wed Oct 26 21:08:57 2011 B-list on Wed Oct 26 21:09:57 2011 1 adiponectin 2 cyp2c19 3 akt 4 vegf 5 homeobox 6 ccaat enhancer binding 7 transporter gene 8 abcc8 9 cyp2c9 10 herg 11 smad3 12 sur1 13 igf2 14 mcad 15 jnk 16 kir6 17 leptin 18 c ebpalpha 19 fibrosis transmembrane conductance 20 bdnf 21 socs1 22 multiple endocrine neoplasia 23 cyp2d6 24 creb 25 toll receptor 26 drb1 27 glucokinase gene 28 kcnq1 29 hnf1a 30 smad 31 ampk 32 pseudogene 33 calcium sensing receptor 34 kcnj11 35 ghrelin 36 glycogen synthase 37 receptor kinase 38 thioredoxin interacting protein 39 hif-1 40 prion protein 41 pituitary hormone 42 pdx1 43 hyperinsulinemia 44 pi3k 45 kruppel factor 46 metabolic syndrome 47 clock gene 48 calreticulin 49 kruppel 50 proinsulin 51 genome wide 52 carnitine palmitoyltransferase 53 glut1 54 mtor 55 pten 56 hif-1alpha 57 hypocretin 58 cpg island 59 glucose transporter 60 chaperone 61 receptor tyrosine kinase 62 hba1 63 eralpha 64 hif-2alpha 65 trinucleotide repeat 66 e virus 67 androgen receptor gene 68 c jun 69 growth hormone receptor 70 fxr 71 sirtuin 72 hydroxylase gene 73 dgat1 74 glut4 75 insulin gene 76 cyclin dependent kinase 77 cyp2c8 78 foxa2 79 fasting glucose 80 hnrnp 81 glut2 82 fdg 83 wolfram syndrome 84 fat mass 85 a-go related gene 86 aicardi goutiere syndrome 87 rdna 88 hemochromatosis 89 bcl xl 90 gene promoter 91 caspase-3 92 aav 93 enzyme gene 94 neurotrophin 95 3-methylcrotonyl coa carboxylase 96 transcription factor 97 etfdh 98 ins-1 99 sgk1 100 mpl 参考文献 Science：严重低血糖症与基因有关 研究人员发现了罹患严重且会令人感到虚弱的低血糖症的人的体内的一种过度活跃的酶。低血糖症是一种机体无法维持足够血糖浓度的疾病。在这种罕见形式的低血糖症中，患者如果在大约3个小时内不吃东西就会失去知觉或发生癫痫。 在一篇Brevium中，Khalid Hussain及其同事分析了3位没有关系的儿童的基因组序列并发现，这些孩子都存在着AKT2基因的一种变异，而该基因所编码的是一种在由胰岛素控制的细胞信号转导通路中的关键性的酶。 那些因为基因变异而使AKT2酶失活的人具有很高的血糖水平，并对胰岛素有着严重的抵抗性。 由Hussain及其同事发现的这种变异则有着相反的效果：它会在无论什么水平的胰岛素的情况下令AKT2一直处于激活状态，因而根本性地损害了机体调节血糖水平的机制。 文章的作者提出，他们的发现可能给人们提供了一个研发治疗严重低血糖症的起始点。（ 生物谷 Bioon.com）
2011年7月《美国科学院院报》（PNAS）刊登了由中国科学院北京基因组研究所吴仲义先生及其团队与国立台湾大学医学院陈培哲先生合作研究结果“Rapid growth of a hepatocellular carcinoma and the driving mutations revealed by cell-population genetic analysis of whole-genome data”（July 5, 2011；http://www.pnas.org/content/early/2011/07/01/1108715108.abstract）。该研究运用崭新的细胞群体微进化分析理念，通过比较不同癌细胞和正常细胞的基因组，获得癌细胞中发生突变的基因。同时，也可以了解这些突变发生的先后顺序，并结合演化的观点更为直接地推断肿瘤的演化过程。具体的讲，该研究通过追踪一例肝癌病人肿瘤细胞的DNA改变过程，对改例病例的原位以及肝内转移肿瘤进行了全基因组测序，并鉴定该例病例中基因突变及其发生的先后顺序。虽然肿瘤细胞通常积累了成千上万的突变，通过演化的观点分析研究，界定出3个与肿瘤细胞群体迅速膨胀相关的关键基因突变。 此外，以往认为复发肿瘤一般是由原位肿瘤细胞的后代发展而来，在这一例的研究中研究人员观察的2个复发肿瘤的基因组发现，复发肿瘤1的确是原位癌的直接后代，而“复发肿瘤2”实际上是原位癌的兄弟克隆，而非子代克隆。而这意味着在原位癌获得快速生长能力之前，肿瘤细胞就发生了转移，而这也丰富了我们对“复发肿瘤”的认识。 癌症的危害和重要性为世人关注。肿瘤发生是一个动态过程，是基因突变不断累积的结果，并具有高度个体特异性。癌症发生和转移机制、个体化的医疗手段，已成为当代医学研究急需解决的问题。2009年在国家自然科学基金和中科院知识创新工程等项目的支持下，中国科学院基因组学研究启动了“肝癌癌症基因组合作研究计划”，经过2年的合作研究，已经获得了一些重要研究进展，此次发表的学术论文则报告了该计划的第一例肝癌全基因组最新研究成果。 （转载自国家自然科学基金网站 2011-7-28）
知识发现平台 http://arrowsmith.psych.uic.edu/cgi-bin/arrowsmith_uic/edit_b.cgi Start A-Literature C-Literature B-list Filter Literature A-query: genome-wide mutation rates C-query: human families The B-list contains title words and phrases (terms) that appeared in both the A and the C literature. 11 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 # 2504 and can be accessed from the start page after you leave this session. There are 8 terms on the current B-list ( 5 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/view_b_txt.cgi?ID=2504 job id # 2504 started Wed Jun 15 21:06:35 2011 Max_citations: 50000 Stoplist: /var/www/html/arrowsmith_uic/data/stopwords_pubmed Ngram_max: 3 2504 Search ARROWSMITH A A_query_raw: endocytosis and tumorigenicityWed Jun 15 21:06:49 2011 A query = endocytosis and tumorigenicity started Wed Jun 15 21:06:49 2011 A query resulted in 15 titles 2504 Search ARROWSMITH C C_query_raw: tyrosine kinase Wed Jun 15 21:07:17 2011 C: tyrosine kinase 141772 A: pubmed_query_A 15 AC: ( endocytosis and tumorigenicity ) AND ( tyrosine kinase ) 5 C query = tyrosine kinase started Wed Jun 15 21:07:18 2011 C query resulted in 50000 titles 2504 Search ARROWSMITH A A_query_raw: genome-wide mutation rates Wed Jun 15 21:08:41 2011 A query = genome-wide mutation rates started Wed Jun 15 21:08:42 2011 A query resulted in 183 titles 2504 Search ARROWSMITH C C_query_raw: human families Wed Jun 15 21:09:12 2011 C: human families 610349 A: pubmed_query_A 183 AC: ( genome-wide mutation rates ) AND ( human families ) 11 C query = human families started Wed Jun 15 21:09:13 2011 C query resulted in 50000 titles A AND C query resulted in 11 titles 1178 B-terms ready on Wed Jun 15 21:11:14 2011 Sem_filter: Genes Molecular Sequences, and Gene Protein Names 104 B-terms left after filter executed Wed Jun 15 21:13:15 2011 Sem_filter: Disorders 8 B-terms left after filter executed Wed Jun 15 21:17:02 2011 B-list on Wed Jun 15 21:29:26 2011 人类家族基因突变与疾病发生的关系，具有密切相关性的隐含知识概念有： 1 inflammatory bowel disease 炎性肠疾病 2 genomic 基因组 3 wilm tumor 维尔姆瘤 4 disease gene 疾病基因 5 breast cancer 乳腺癌 http://arrowsmith.psych.uic.edu/cgi-bin/arrowsmith_uic/show_sentences.cgi Start A-Literature C-Literature B-list Filter Literature AB literature B-term BC literature genome-wide mutation rates breast cancer human families 1: DNA Methylome of Familial Breast Cancer Identifies Distinct Profiles Defined by Mutation Status.2010 Add to clipboard 2: Data integration from two microarray platforms identifies bi-allelic genetic inactivation of RIC8A in a breast cancer cell line.2009 Add to clipboard 1: Global DNA methylation levels in girls with and without a family history of breast cancer .2011 Add to clipboard 2: Breast cancer genomics based on biobanks.2011 Add to clipboard 3: Overexpression of human ortholog of mammalian enabled (hMena) is associated with the expression of mutant p53 protein in human breast cancer s.2011 Add to clipboard 4: Side population in MDA-MB-231 human breast cancer cells exhibits cancer stem cell-like properties without higher bone-metastatic potential.2011 Add to clipboard 5: Physical activity and breast cancer prevention.2011 Add to clipboard 最新研究动态： 人体内平均出现60处基因突变 http://paper.sciencenet.cn/htmlpaper/201161414202954817476.shtm
青少年发病的非胰岛素依赖型糖尿病，又称青少年发病的成人型糖尿病（Maturity- Onset Diabetes of the Youth，MODY），为一种发病年龄早，较为少见并呈常染色体显性遗传的单基因遗传疾病，常被误诊为1型或者2型糖尿病，现将之归为特殊类型的糖尿病。分子遗传学诊断可以在糖尿病病人中明确MODY诊断和分型，从而有助于治疗和预测可能的后果和临床过程。比如，HNF1α突变患者对磺脲类药物的降糖作用非常敏感。这类患者用磺脲类药物治疗可以更好地控制血糖。目前研究所知，MODY至少由11个明确的不同基因突变引起，其中MODY1-6基因的研究比较多。 根据MODY临床标准确定家系内先证者，对先证者的MODY基因进行分子缺陷筛查研究，进一步确定家系内的突变基因位点成为确定MODY家系的基本路线。MODY相关基因的分子筛查在确定MODY亚型、有效针对性的治疗和防治预后中起到很重要的作用。研究显示，通过筛查基因突变进行基因诊断可提高新生儿糖尿病患者的生命质量，并减少诊疗费用，故建议把基因诊断广泛应用于其他疾病诊断中。《科技导报》2011年第15期28—34页刊登了帕它木·莫合买提、伊力哈木江·伊马木等的研究论文“维吾尔族早发糖尿病家系中MODY1-6基因缺陷的分子筛查”，选择一个维吾尔族早发糖尿病家系，对临床特点进行分析，采用DNA直接双向测序技术对维吾尔族MODY家系中MODY1-6基因缺陷进行分子筛查，发现了17种多态性变异，其中HNF1α基因的同义突变Gln497Gln和NEUROD1基因的c. 164GA尚未见报道，其他是已报道的MODY基因常见多态性，未发现MODY1-6基因致病突变。 通常MODY发病年龄较早，与肥胖或超重无关联，故被误认为是1型糖尿病。MODY口服降糖药治疗至少5年有效，一般未发生酮症酸中毒，至少在发病2年内不依赖胰岛素治疗，可有心血管并发症，故有时候也误认为是2型糖尿病。MODY的一些临床表现与1型糖尿病相似，有些临床表现与2型糖尿病相似。它在临床表现上与1型和2型糖尿病都有共同点。因此有些学者把MODY归类为“1.5型糖尿病”。本期封面图片中，两片大叶子（红色和绿色）分别代表1型和2型糖尿病，中间的黄色部分代表发病率较低的MODY。本期封面图片由热比亚·努力提供，本期封面由金功博设计。（责任编辑 吴晓丽）
NEJM：肢端肥大症和巨人症与基因突变有关 http://news.sciencenet.cn/htmlnews/2011/1/242563.shtm AIP Mutation in Pituitary Adenomas in the 18th Century and Today http://www.nejm.org/doi/full/10.1056/NEJMoa1008020 http://www.gopubmed.org/web/gopubmed/WEB1kOWEB10O00h0010009000000h001000j100300.y 119 documents semantically analyzed top author statistics 1 2 3 Top Years Publications 2008 8 2006 8 1999 8 2005 7 1994 6 2010 5 2007 4 2003 4 2001 4 1993 4 1992 4 1971 4 2004 3 2002 3 2000 3 1996 3 1987 3 1986 3 1977 3 1969 3 1 2 3 Top Countries Publications USA 18 Japan 9 Germany 7 Canada 5 United Kingdom 4 Australia 4 France 4 Netherlands 4 Belgium 2 Italy 2 Taiwan 2 Spain 2 Greece 1 Finland 1 Venezuela 1 Chile 1 New Zealand 1 Austria 1 Brazil 1 India 1 1 2 3 Top Cities Publications Bethesda 5 Nagasaki, Japan 5 Paris 3 Halifax 2 Leiden 2 Taipei 2 Chicago 2 London 1 Lige 1 Athens 1 Sydney 1 Melbourne 1 Genoa 1 Rochester, MN, USA 1 Turin 1 Sapporo 1 Tokyo 1 Helsinki 1 Mainz 1 Nuremberg 1 1 2 3 1 2 3 4 Top Journals Publications Am J Med Genet A 18 J Med Genet 5 Hum Genet 4 Clin Genet 4 J Clin Endocr Metab 4 J Pediatr 3 J Pediatr Endocr Met 3 Horm Res 3 Eur J Endocrinol 2 Orphanet J Rare Dis 2 Nippon Rinsho 2 Genetics 2 P Natl Acad Sci Usa 2 Hum Mol Genet 2 Med Pediatr Oncol 2 Klin Padiatr 2 Lancet 2 Ann Genet-paris 2 Postgrad Med J 2 Monatsschr Kinderh 2 1 2 3 4 1 2 3 ... 59 Top Terms Publications Gigantism 118 Humans 107 Syndrome 74 Mutation 56 Genes 49 Patients 43 Child 39 Chromosome Aberrations 33 Adolescent 31 Adult 28 Chromosomes 27 Infant 27 Abnormalities, Multiple 27 Infant, Newborn 25 Child, Preschool 24 Neoplasms 23 chromosome 20 Mental Retardation 20 Diagnosis 19 Proteins 18 1 2 3 ... 59 1 2 3 ... 26 Top Authors Publications Matsumoto N 4 Niikawa N 4 Turleau C 3 Harada N 3 Ohta T 3 Kurotaki N 3 Tsukahara M 3 Schrander-Stumpel C 3 Georgitsi M 2 Romana S 2 Prieur M 2 Vekemans M 2 Munnich A 2 Cormier-Daire V 2 Baujat G 2 Yoshimoto K 2 Doerr H 2 Wit J 2 Melmed S 2 Foulkes W 2 1 2 3 ... 26 publications over time http://arrowsmith.psych.uic.edu/cgi-bin/arrowsmith_uic/edit_b.cgi?refresh=TID=27778 Start A-Literature C-Literature B-list Filter Literature A-query: Gigantism and mutation C-query: growth hormonesecreting pituitary adeno... The B-list contains title words and phrases (terms) that appeared in both the A and the C literature. 5 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 # 27778 and can be accessed from the start page after you leave this session. There are 283 terms on the current B-list ( 70 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. job id # 27778 started Sat Jan 8 01:29:57 2011 Max_citations: 50000 Stoplist: /var/www/html/arrowsmith_uic/data/stopwords_pubmed Ngram_max: 3 27778 Search ARROWSMITH A A_query_raw: Gigantism and mutationSat Jan 8 01:30:37 2011 A query = Gigantism and mutation started Sat Jan 8 01:30:37 2011 A query resulted in 119 titles 27778 Search ARROWSMITH C C_query_raw: growth hormonesecreting pituitary adenoma Sat Jan 8 01:31:39 2011 C: growth hormonesecreting pituitary adenoma 1152 A: pubmed_query_A 119 AC: ( Gigantism and mutation ) AND ( growth hormonesecreting pituitary adenoma ) 5 C query = growth hormonesecreting pituitary adenoma started Sat Jan 8 01:31:41 2011 C query resulted in 1152 titles A AND C query resulted in 5 titles 283 B-terms ready on Sat Jan 8 01:31:57 2011 B-list on Sat Jan 8 01:36:06 2011 1 cabergoline 2 pituitary macroadenoma 3 octreotide long acting 4 endocrine neoplasia 5 multiple endocrine neoplasia 6 aryl hydrocarbon receptor 7 sella 8 gigantism caused 9 pituitary adenoma 10 acromegaly 11 receptor interacting protein 12 hydrocarbon receptor interacting 13 octreotide 14 familial pituitary 15 cabergoline therapy 16 macroadenoma 17 octreotide therapy 18 isolated familial somatotropinoma 19 familial somatotropinoma 20 gs alpha mutation 21 gene polymorphism 22 pituitary gigantism 23 effect octreotide 24 gigantism 25 somatotropinoma 26 growth hormone receptor 27 gigantism pituitary 28 loss heterozygosity 29 aip gene 30 long acting release 31 mccune albright syndrome 32 pituitary tumor 33 mutation aip gene 34 gs alpha 35 tumor deletion mapping 36 gs 37 boy mccune albright 38 mutation human 39 lar 40 interacting protein aip 41 aip mutation 42 endocrine neoplasia i 43 albright syndrome clinical 44 acromegaly gigantism 45 germline 46 hormone receptor 47 pituitary 48 fibrous dysplasia 49 mosaicism 50 hypopituitarism 51 familial pituitary tumor 52 gigantism a old 53 adenoma 54 cytogenetic 55 tumorigenesis 56 mutation 57 sporadic 58 stature 59 11q13 60 long acting 61 giantism 62 growth factor 63 lipomatosis 64 twin 65 aip 66 growth hormone 67 hormonal 68 genomic 69 polymorphism 70 fibrous Start A-Literature C-Literature B-list Filter Literature AB literature B-term BC literature Gigantism and mutation cabergoline growth hormonesecreting pitui... 1: Case study of a 15-year-old boy with McCune-Albright syndrome combined with pituitary gigantism: effect of octreotide-long acting release (LAR) and cabergoline therapy.2008 Add to clipboard 1: Substantial shrinkage of adenomas cosecreting growth hormone and prolactin with use of cabergoline therapy.2007 Add to clipboard 2: Cabergoline in the treatment of acromegaly: a study in 64 patients.1998 Add to clipboard 3: Use of cabergoline in the long-term treatment of hyperprolactinemic and acromegalic patients.1997 Add to clipboard
标签: 基因突变
