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  • Nature Publishing Group (NPG)  (18)
  • Blackwell Publishing Ltd
  • Nature Publishing Group
  • 2010-2014  (18)
  • 1945-1949
  • 2012  (8)
  • 2011  (10)
  • 1
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    A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma (2011)
    Nature Publishing Group (NPG)
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    Publication Date: 2011-10-21
    Description: So far, no common environmental and/or phenotypic factor has been associated with melanoma and renal cell carcinoma (RCC). The known risk factors for melanoma include sun exposure, pigmentation and nevus phenotypes; risk factors associated with RCC include smoking, obesity and hypertension. A recent study of coexisting melanoma and RCC in the same patients supports a genetic predisposition underlying the association between these two cancers. The microphthalmia-associated transcription factor (MITF) has been proposed to act as a melanoma oncogene; it also stimulates the transcription of hypoxia inducible factor (HIF1A), the pathway of which is targeted by kidney cancer susceptibility genes. We therefore proposed that MITF might have a role in conferring a genetic predisposition to co-occurring melanoma and RCC. Here we identify a germline missense substitution in MITF (Mi-E318K) that occurred at a significantly higher frequency in genetically enriched patients affected with melanoma, RCC or both cancers, when compared with controls. Overall, Mi-E318K carriers had a higher than fivefold increased risk of developing melanoma, RCC or both cancers. Codon 318 is located in a small-ubiquitin-like modifier (SUMO) consensus site (PsiKXE) and Mi-E318K severely impaired SUMOylation of MITF. Mi-E318K enhanced MITF protein binding to the HIF1A promoter and increased its transcriptional activity compared to wild-type MITF. Further, we observed a global increase in Mi-E318K-occupied loci. In an RCC cell line, gene expression profiling identified a Mi-E318K signature related to cell growth, proliferation and inflammation. Lastly, the mutant protein enhanced melanocytic and renal cell clonogenicity, migration and invasion, consistent with a gain-of-function role in tumorigenesis. Our data provide insights into the link between SUMOylation, transcription and cancer.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Bertolotto, Corine -- Lesueur, Fabienne -- Giuliano, Sandy -- Strub, Thomas -- de Lichy, Mahaut -- Bille, Karine -- Dessen, Philippe -- d'Hayer, Benoit -- Mohamdi, Hamida -- Remenieras, Audrey -- Maubec, Eve -- de la Fouchardiere, Arnaud -- Molinie, Vincent -- Vabres, Pierre -- Dalle, Stephane -- Poulalhon, Nicolas -- Martin-Denavit, Tanguy -- Thomas, Luc -- Andry-Benzaquen, Pascale -- Dupin, Nicolas -- Boitier, Francoise -- Rossi, Annick -- Perrot, Jean-Luc -- Labeille, Bruno -- Robert, Caroline -- Escudier, Bernard -- Caron, Olivier -- Brugieres, Laurence -- Saule, Simon -- Gardie, Betty -- Gad, Sophie -- Richard, Stephane -- Couturier, Jerome -- Teh, Bin Tean -- Ghiorzo, Paola -- Pastorino, Lorenza -- Puig, Susana -- Badenas, Celia -- Olsson, Hakan -- Ingvar, Christian -- Rouleau, Etienne -- Lidereau, Rosette -- Bahadoran, Philippe -- Vielh, Philippe -- Corda, Eve -- Blanche, Helene -- Zelenika, Diana -- Galan, Pilar -- French Familial Melanoma Study Group -- Aubin, Francois -- Bachollet, Bertrand -- Becuwe, Celine -- Berthet, Pascaline -- Bignon, Yves Jean -- Bonadona, Valerie -- Bonafe, Jean-Louis -- Bonnet-Dupeyron, Marie-Noelle -- Cambazard, Frederic -- Chevrant-Breton, Jacqueline -- Coupier, Isabelle -- Dalac, Sophie -- Demange, Liliane -- d'Incan, Michel -- Dugast, Catherine -- Faivre, Laurence -- Vincent-Fetita, Lynda -- Gauthier-Villars, Marion -- Gilbert, Brigitte -- Grange, Florent -- Grob, Jean-Jacques -- Humbert, Philippe -- Janin, Nicolas -- Joly, Pascal -- Kerob, Delphine -- Lasset, Christine -- Leroux, Dominique -- Levang, Julien -- Limacher, Jean-Marc -- Livideanu, Cristina -- Longy, Michel -- Lortholary, Alain -- Stoppa-Lyonnet, Dominique -- Mansard, Sandrine -- Mansuy, Ludovic -- Marrou, Karine -- Mateus, Christine -- Maugard, Christine -- Meyer, Nicolas -- Nogues, Catherine -- Souteyrand, Pierre -- Venat-Bouvet, Laurence -- Zattara, Helene -- Chaudru, Valerie -- Lenoir, Gilbert M -- Lathrop, Mark -- Davidson, Irwin -- Avril, Marie-Francoise -- Demenais, Florence -- Ballotti, Robert -- Bressac-de Paillerets, Brigitte -- England -- Nature. 2011 Oct 19;480(7375):94-8. doi: 10.1038/nature10539.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉1] INSERM, U895 (equipe 1), Equipe labelisee Ligue Contre le Cancer, C3M, 06204 Nice, France [2] Universite of Nice Sophia-Antipolis, UFR Medecine, 06204 Nice, France [3] Centre Hospitalier Universitaire de Nice, Service de Dermatologie, 06204 Nice, France [4].〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/22012259" target="_blank"〉PubMed〈/a〉
    Keywords: Carcinoma, Renal Cell/*genetics ; Cell Movement/genetics ; Gene Frequency ; *Genetic Predisposition to Disease ; *Germ-Line Mutation ; Humans ; Melanoma/*genetics ; Microphthalmia-Associated Transcription Factor/*genetics ; Neoplasm Invasiveness/genetics ; Sumoylation
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 2
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    Reward research that informs policy (2011)
    Nature Publishing Group (NPG)
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    Publication Date: 2011-06-24
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Meyer, Ryan -- Leith, Peat -- England -- Nature. 2011 Jun 22;474(7352):450. doi: 10.1038/474450c.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/21697935" target="_blank"〉PubMed〈/a〉
    Keywords: Climate Change ; *Policy Making ; *Public Policy ; Research/*manpower ; *Reward
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 3
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    Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma (2011)
    Nature Publishing Group (NPG)
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    Publication Date: 2011-07-29
    Description: Follicular lymphoma (FL) and diffuse large B-cell lymphoma (DLBCL) are the two most common non-Hodgkin lymphomas (NHLs). Here we sequenced tumour and matched normal DNA from 13 DLBCL cases and one FL case to identify genes with mutations in B-cell NHL. We analysed RNA-seq data from these and another 113 NHLs to identify genes with candidate mutations, and then re-sequenced tumour and matched normal DNA from these cases to confirm 109 genes with multiple somatic mutations. Genes with roles in histone modification were frequent targets of somatic mutation. For example, 32% of DLBCL and 89% of FL cases had somatic mutations in MLL2, which encodes a histone methyltransferase, and 11.4% and 13.4% of DLBCL and FL cases, respectively, had mutations in MEF2B, a calcium-regulated gene that cooperates with CREBBP and EP300 in acetylating histones. Our analysis suggests a previously unappreciated disruption of chromatin biology in lymphomagenesis.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3210554/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3210554/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Morin, Ryan D -- Mendez-Lago, Maria -- Mungall, Andrew J -- Goya, Rodrigo -- Mungall, Karen L -- Corbett, Richard D -- Johnson, Nathalie A -- Severson, Tesa M -- Chiu, Readman -- Field, Matthew -- Jackman, Shaun -- Krzywinski, Martin -- Scott, David W -- Trinh, Diane L -- Tamura-Wells, Jessica -- Li, Sa -- Firme, Marlo R -- Rogic, Sanja -- Griffith, Malachi -- Chan, Susanna -- Yakovenko, Oleksandr -- Meyer, Irmtraud M -- Zhao, Eric Y -- Smailus, Duane -- Moksa, Michelle -- Chittaranjan, Suganthi -- Rimsza, Lisa -- Brooks-Wilson, Angela -- Spinelli, John J -- Ben-Neriah, Susana -- Meissner, Barbara -- Woolcock, Bruce -- Boyle, Merrill -- McDonald, Helen -- Tam, Angela -- Zhao, Yongjun -- Delaney, Allen -- Zeng, Thomas -- Tse, Kane -- Butterfield, Yaron -- Birol, Inanc -- Holt, Rob -- Schein, Jacqueline -- Horsman, Douglas E -- Moore, Richard -- Jones, Steven J M -- Connors, Joseph M -- Hirst, Martin -- Gascoyne, Randy D -- Marra, Marco A -- 1U01CA114778/CA/NCI NIH HHS/ -- HHSN261200800001E/PHS HHS/ -- P50CA130805-01/CA/NCI NIH HHS/ -- TGT-53912/Canadian Institutes of Health Research/Canada -- U24 CA143866/CA/NCI NIH HHS/ -- U24 CA143866-01/CA/NCI NIH HHS/ -- U24 CA143866-02/CA/NCI NIH HHS/ -- U24 CA143866-03/CA/NCI NIH HHS/ -- England -- Nature. 2011 Jul 27;476(7360):298-303. doi: 10.1038/nature10351.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/21796119" target="_blank"〉PubMed〈/a〉
    Keywords: Chromatin/genetics/metabolism ; DNA-Binding Proteins/genetics/metabolism ; Genome, Human/genetics ; Histone Acetyltransferases/genetics/metabolism ; Histone-Lysine N-Methyltransferase/genetics/metabolism ; Histones/*metabolism ; Humans ; Loss of Heterozygosity/genetics ; Lymphoma, Follicular/enzymology/genetics ; Lymphoma, Large B-Cell, Diffuse/enzymology/genetics ; Lymphoma, Non-Hodgkin/enzymology/*genetics ; MADS Domain Proteins/genetics/metabolism ; MEF2 Transcription Factors ; Mutation/*genetics ; Myogenic Regulatory Factors/genetics/metabolism ; Neoplasm Proteins/genetics/metabolism
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 4
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    A massive, cooling-flow-induced starburst in the core of a luminous cluster of galaxies (2012)
    Nature Publishing Group (NPG)
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    Publication Date: 2012-08-17
    Description: In the cores of some clusters of galaxies the hot intracluster plasma is dense enough that it should cool radiatively in the cluster's lifetime, leading to continuous 'cooling flows' of gas sinking towards the cluster centre, yet no such cooling flow has been observed. The low observed star-formation rates and cool gas masses for these 'cool-core' clusters suggest that much of the cooling must be offset by feedback to prevent the formation of a runaway cooling flow. Here we report X-ray, optical and infrared observations of the galaxy cluster SPT-CLJ2344-4243 (ref. 11) at redshift z = 0.596. These observations reveal an exceptionally luminous (8.2 x 10(45) erg s(-1)) galaxy cluster that hosts an extremely strong cooling flow (around 3,820 solar masses a year). Further, the central galaxy in this cluster appears to be experiencing a massive starburst (formation of around 740 solar masses a year), which suggests that the feedback source responsible for preventing runaway cooling in nearby cool-core clusters may not yet be fully established in SPT-CLJ2344-4243. This large star-formation rate implies that a significant fraction of the stars in the central galaxy of this cluster may form through accretion of the intracluster medium, rather than (as is currently thought) assembling entirely via mergers.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉McDonald, M -- Bayliss, M -- Benson, B A -- Foley, R J -- Ruel, J -- Sullivan, P -- Veilleux, S -- Aird, K A -- Ashby, M L N -- Bautz, M -- Bazin, G -- Bleem, L E -- Brodwin, M -- Carlstrom, J E -- Chang, C L -- Cho, H M -- Clocchiatti, A -- Crawford, T M -- Crites, A T -- de Haan, T -- Desai, S -- Dobbs, M A -- Dudley, J P -- Egami, E -- Forman, W R -- Garmire, G P -- George, E M -- Gladders, M D -- Gonzalez, A H -- Halverson, N W -- Harrington, N L -- High, F W -- Holder, G P -- Holzapfel, W L -- Hoover, S -- Hrubes, J D -- Jones, C -- Joy, M -- Keisler, R -- Knox, L -- Lee, A T -- Leitch, E M -- Liu, J -- Lueker, M -- Luong-Van, D -- Mantz, A -- Marrone, D P -- McMahon, J J -- Mehl, J -- Meyer, S S -- Miller, E D -- Mocanu, L -- Mohr, J J -- Montroy, T E -- Murray, S S -- Natoli, T -- Padin, S -- Plagge, T -- Pryke, C -- Rawle, T D -- Reichardt, C L -- Rest, A -- Rex, M -- Ruhl, J E -- Saliwanchik, B R -- Saro, A -- Sayre, J T -- Schaffer, K K -- Shaw, L -- Shirokoff, E -- Simcoe, R -- Song, J -- Spieler, H G -- Stalder, B -- Staniszewski, Z -- Stark, A A -- Story, K -- Stubbs, C W -- Suhada, R -- van Engelen, A -- Vanderlinde, K -- Vieira, J D -- Vikhlinin, A -- Williamson, R -- Zahn, O -- Zenteno, A -- England -- Nature. 2012 Aug 16;488(7411):349-52. doi: 10.1038/nature11379.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉MIT Kavli Institute for Astrophysics and Space Research, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA. mcdonald@space.mit.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/22895340" target="_blank"〉PubMed〈/a〉
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  • 5
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    De novo mutations revealed by whole-exome sequencing are strongly associated with autism (2012)
    Nature Publishing Group (NPG)
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    Publication Date: 2012-04-13
    Description: Multiple studies have confirmed the contribution of rare de novo copy number variations to the risk for autism spectrum disorders. But whereas de novo single nucleotide variants have been identified in affected individuals, their contribution to risk has yet to be clarified. Specifically, the frequency and distribution of these mutations have not been well characterized in matched unaffected controls, and such data are vital to the interpretation of de novo coding mutations observed in probands. Here we show, using whole-exome sequencing of 928 individuals, including 200 phenotypically discordant sibling pairs, that highly disruptive (nonsense and splice-site) de novo mutations in brain-expressed genes are associated with autism spectrum disorders and carry large effects. On the basis of mutation rates in unaffected individuals, we demonstrate that multiple independent de novo single nucleotide variants in the same gene among unrelated probands reliably identifies risk alleles, providing a clear path forward for gene discovery. Among a total of 279 identified de novo coding mutations, there is a single instance in probands, and none in siblings, in which two independent nonsense variants disrupt the same gene, SCN2A (sodium channel, voltage-gated, type II, alpha subunit), a result that is highly unlikely by chance.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3667984/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3667984/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Sanders, Stephan J -- Murtha, Michael T -- Gupta, Abha R -- Murdoch, John D -- Raubeson, Melanie J -- Willsey, A Jeremy -- Ercan-Sencicek, A Gulhan -- DiLullo, Nicholas M -- Parikshak, Neelroop N -- Stein, Jason L -- Walker, Michael F -- Ober, Gordon T -- Teran, Nicole A -- Song, Youeun -- El-Fishawy, Paul -- Murtha, Ryan C -- Choi, Murim -- Overton, John D -- Bjornson, Robert D -- Carriero, Nicholas J -- Meyer, Kyle A -- Bilguvar, Kaya -- Mane, Shrikant M -- Sestan, Nenad -- Lifton, Richard P -- Gunel, Murat -- Roeder, Kathryn -- Geschwind, Daniel H -- Devlin, Bernie -- State, Matthew W -- K08 MH087639/MH/NIMH NIH HHS/ -- R25 MH077823/MH/NIMH NIH HHS/ -- T32 GM008042/GM/NIGMS NIH HHS/ -- U01 MH081896/MH/NIMH NIH HHS/ -- Howard Hughes Medical Institute/ -- England -- Nature. 2012 Apr 4;485(7397):237-41. doi: 10.1038/nature10945.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Program on Neurogenetics, Child Study Center, Department of Psychiatry, Yale University School of Medicine, 230 South Frontage Road, New Haven, Connecticut 06520, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/22495306" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Autistic Disorder/*genetics ; Codon, Nonsense/genetics ; Exome/*genetics ; Exons/*genetics ; Genetic Heterogeneity ; Genetic Predisposition to Disease/*genetics ; Humans ; Mutation/*genetics ; NAV1.2 Voltage-Gated Sodium Channel ; Nerve Tissue Proteins/*genetics ; RNA Splice Sites/genetics ; Siblings ; Sodium Channels/*genetics
    Print ISSN: 0028-0836
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  • 6
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    The clonal and mutational evolution spectrum of primary triple-negative breast cancers (2012)
    Nature Publishing Group (NPG)
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    Publication Date: 2012-04-13
    Description: Primary triple-negative breast cancers (TNBCs), a tumour type defined by lack of oestrogen receptor, progesterone receptor and ERBB2 gene amplification, represent approximately 16% of all breast cancers. Here we show in 104 TNBC cases that at the time of diagnosis these cancers exhibit a wide and continuous spectrum of genomic evolution, with some having only a handful of coding somatic aberrations in a few pathways, whereas others contain hundreds of coding somatic mutations. High-throughput RNA sequencing (RNA-seq) revealed that only approximately 36% of mutations are expressed. Using deep re-sequencing measurements of allelic abundance for 2,414 somatic mutations, we determine for the first time-to our knowledge-in an epithelial tumour subtype, the relative abundance of clonal frequencies among cases representative of the population. We show that TNBCs vary widely in their clonal frequencies at the time of diagnosis, with the basal subtype of TNBC showing more variation than non-basal TNBC. Although p53 (also known as TP53), PIK3CA and PTEN somatic mutations seem to be clonally dominant compared to other genes, in some tumours their clonal frequencies are incompatible with founder status. Mutations in cytoskeletal, cell shape and motility proteins occurred at lower clonal frequencies, suggesting that they occurred later during tumour progression. Taken together, our results show that understanding the biology and therapeutic responses of patients with TNBC will require the determination of individual tumour clonal genotypes.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3863681/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3863681/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Shah, Sohrab P -- Roth, Andrew -- Goya, Rodrigo -- Oloumi, Arusha -- Ha, Gavin -- Zhao, Yongjun -- Turashvili, Gulisa -- Ding, Jiarui -- Tse, Kane -- Haffari, Gholamreza -- Bashashati, Ali -- Prentice, Leah M -- Khattra, Jaswinder -- Burleigh, Angela -- Yap, Damian -- Bernard, Virginie -- McPherson, Andrew -- Shumansky, Karey -- Crisan, Anamaria -- Giuliany, Ryan -- Heravi-Moussavi, Alireza -- Rosner, Jamie -- Lai, Daniel -- Birol, Inanc -- Varhol, Richard -- Tam, Angela -- Dhalla, Noreen -- Zeng, Thomas -- Ma, Kevin -- Chan, Simon K -- Griffith, Malachi -- Moradian, Annie -- Cheng, S-W Grace -- Morin, Gregg B -- Watson, Peter -- Gelmon, Karen -- Chia, Stephen -- Chin, Suet-Feung -- Curtis, Christina -- Rueda, Oscar M -- Pharoah, Paul D -- Damaraju, Sambasivarao -- Mackey, John -- Hoon, Kelly -- Harkins, Timothy -- Tadigotla, Vasisht -- Sigaroudinia, Mahvash -- Gascard, Philippe -- Tlsty, Thea -- Costello, Joseph F -- Meyer, Irmtraud M -- Eaves, Connie J -- Wasserman, Wyeth W -- Jones, Steven -- Huntsman, David -- Hirst, Martin -- Caldas, Carlos -- Marra, Marco A -- Aparicio, Samuel -- 5U01ES017154-02/ES/NIEHS NIH HHS/ -- R01 GM084875/GM/NIGMS NIH HHS/ -- R01GM084875/GM/NIGMS NIH HHS/ -- Cancer Research UK/United Kingdom -- England -- Nature. 2012 Apr 4;486(7403):395-9. doi: 10.1038/nature10933.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia V6T 2B5, Canada. sshah@bccrc.ca〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/22495314" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Breast Neoplasms/diagnosis/*genetics/*pathology ; Clone Cells/metabolism/pathology ; DNA Copy Number Variations/genetics ; DNA Mutational Analysis ; Disease Progression ; *Evolution, Molecular ; Female ; Gene Expression Profiling ; Gene Expression Regulation, Neoplastic/genetics ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; INDEL Mutation/genetics ; Mutation/*genetics ; Point Mutation/genetics ; Precision Medicine ; Reproducibility of Results ; Sequence Analysis, RNA
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  • 7
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    A disinhibitory microcircuit for associative fear learning in the auditory cortex (2011)
    Nature Publishing Group (NPG)
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    Publication Date: 2011-12-14
    Description: Learning causes a change in how information is processed by neuronal circuits. Whereas synaptic plasticity, an important cellular mechanism, has been studied in great detail, we know much less about how learning is implemented at the level of neuronal circuits and, in particular, how interactions between distinct types of neurons within local networks contribute to the process of learning. Here we show that acquisition of associative fear memories depends on the recruitment of a disinhibitory microcircuit in the mouse auditory cortex. Fear-conditioning-associated disinhibition in auditory cortex is driven by foot-shock-mediated cholinergic activation of layer 1 interneurons, in turn generating inhibition of layer 2/3 parvalbumin-positive interneurons. Importantly, pharmacological or optogenetic block of pyramidal neuron disinhibition abolishes fear learning. Together, these data demonstrate that stimulus convergence in the auditory cortex is necessary for associative fear learning to complex tones, define the circuit elements mediating this convergence and suggest that layer-1-mediated disinhibition is an important mechanism underlying learning and information processing in neocortical circuits.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Letzkus, Johannes J -- Wolff, Steffen B E -- Meyer, Elisabeth M M -- Tovote, Philip -- Courtin, Julien -- Herry, Cyril -- Luthi, Andreas -- England -- Nature. 2011 Dec 7;480(7377):331-5. doi: 10.1038/nature10674.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Friedrich Miescher Institute for Biomedical Research, Maulbeerstrasse 66, CH-4058 Basel, Switzerland. johannes.letzkus@fmi.ch〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/22158104" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Auditory Cortex/cytology/drug effects/*physiology ; Conditioning, Classical/drug effects/*physiology ; Electroshock ; Extremities/innervation/physiology ; Fear/drug effects/*physiology/*psychology ; Interneurons/cytology/drug effects/physiology ; Male ; Mice ; Mice, Inbred C57BL ; Models, Neurological ; Nerve Net/cytology/drug effects/physiology ; Neural Inhibition/drug effects/physiology ; Neural Pathways/cytology/drug effects/*physiology ; Nicotinic Antagonists/pharmacology ; Pyramidal Cells/drug effects/physiology ; Receptors, Nicotinic/metabolism
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  • 8
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    Biomimetic self-templating supramolecular structures (2011)
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    Publication Date: 2011-10-21
    Description: In nature, helical macromolecules such as collagen, chitin and cellulose are critical to the morphogenesis and functionality of various hierarchically structured materials. During tissue formation, these chiral macromolecules are secreted and undergo self-templating assembly, a process whereby multiple kinetic factors influence the assembly of the incoming building blocks to produce non-equilibrium structures. A single macromolecule can form diverse functional structures when self-templated under different conditions. Collagen type I, for instance, forms transparent corneal tissues from orthogonally aligned nematic fibres, distinctively coloured skin tissues from cholesteric phase fibre bundles, and mineralized tissues from hierarchically organized fibres. Nature's self-templated materials surpass the functional and structural complexity achievable by current top-down and bottom-up fabrication methods. However, self-templating has not been thoroughly explored for engineering synthetic materials. Here we demonstrate the biomimetic, self-templating assembly of chiral colloidal particles (M13 phage) into functional materials. A single-step process produces long-range-ordered, supramolecular films showing multiple levels of hierarchical organization and helical twist. Three distinct supramolecular structures are created by this approach: nematic orthogonal twists, cholesteric helical ribbons and smectic helicolidal nanofilaments. Both chiral liquid crystalline phase transitions and competing interfacial forces at the interface are found to be critical factors in determining the morphology of the templated structures during assembly. The resulting materials show distinctive optical and photonic properties, functioning as chiral reflector/filters and structural colour matrices. In addition, M13 phages with genetically incorporated bioactive peptide ligands direct both soft and hard tissue growth in a hierarchically organized manner. Our assembly approach provides insight into the complexities of hierarchical assembly in nature and could be expanded to other chiral molecules to engineer sophisticated functional helical-twisted structures.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Chung, Woo-Jae -- Oh, Jin-Woo -- Kwak, Kyungwon -- Lee, Byung Yang -- Meyer, Joel -- Wang, Eddie -- Hexemer, Alexander -- Lee, Seung-Wuk -- R21DE018360/DE/NIDCR NIH HHS/ -- England -- Nature. 2011 Oct 19;478(7369):364-8. doi: 10.1038/nature10513.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Bioengineering, University of California, Berkeley, California 94720, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/22012394" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Bacteriophage M13/chemistry/*physiology ; Biomimetic Materials/chemical synthesis/*chemistry ; Cell Line ; Macromolecular Substances/chemistry ; Mice ; Optical Rotation ; Tissue Culture Techniques/instrumentation ; Virion/chemistry
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Published by Nature Publishing Group (NPG)
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    Spatio-temporal transcriptome of the human brain (2011)
    Nature Publishing Group (NPG)
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    Publication Date: 2011-10-28
    Description: Brain development and function depend on the precise regulation of gene expression. However, our understanding of the complexity and dynamics of the transcriptome of the human brain is incomplete. Here we report the generation and analysis of exon-level transcriptome and associated genotyping data, representing males and females of different ethnicities, from multiple brain regions and neocortical areas of developing and adult post-mortem human brains. We found that 86 per cent of the genes analysed were expressed, and that 90 per cent of these were differentially regulated at the whole-transcript or exon level across brain regions and/or time. The majority of these spatio-temporal differences were detected before birth, with subsequent increases in the similarity among regional transcriptomes. The transcriptome is organized into distinct co-expression networks, and shows sex-biased gene expression and exon usage. We also profiled trajectories of genes associated with neurobiological categories and diseases, and identified associations between single nucleotide polymorphisms and gene expression. This study provides a comprehensive data set on the human brain transcriptome and insights into the transcriptional foundations of human neurodevelopment.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3566780/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3566780/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kang, Hyo Jung -- Kawasawa, Yuka Imamura -- Cheng, Feng -- Zhu, Ying -- Xu, Xuming -- Li, Mingfeng -- Sousa, Andre M M -- Pletikos, Mihovil -- Meyer, Kyle A -- Sedmak, Goran -- Guennel, Tobias -- Shin, Yurae -- Johnson, Matthew B -- Krsnik, Zeljka -- Mayer, Simone -- Fertuzinhos, Sofia -- Umlauf, Sheila -- Lisgo, Steven N -- Vortmeyer, Alexander -- Weinberger, Daniel R -- Mane, Shrikant -- Hyde, Thomas M -- Huttner, Anita -- Reimers, Mark -- Kleinman, Joel E -- Sestan, Nenad -- DA026119/DA/NIDA NIH HHS/ -- G0700089/Medical Research Council/United Kingdom -- G9900837/Medical Research Council/United Kingdom -- GR082557/Wellcome Trust/United Kingdom -- HD000836/HD/NICHD NIH HHS/ -- MH081896/MH/NIMH NIH HHS/ -- MH089929/MH/NIMH NIH HHS/ -- NS054273/NS/NINDS NIH HHS/ -- R01 NS054273/NS/NINDS NIH HHS/ -- R01 NS054273-07/NS/NINDS NIH HHS/ -- RC2 MH089929/MH/NIMH NIH HHS/ -- RC2 MH089929-02/MH/NIMH NIH HHS/ -- U01 MH081896/MH/NIMH NIH HHS/ -- U01 MH081896-03/MH/NIMH NIH HHS/ -- England -- Nature. 2011 Oct 26;478(7370):483-9. doi: 10.1038/nature10523.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Neurobiology and Kavli Institute for Neuroscience, Yale University School of Medicine, New Haven, Connecticut 06510, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/22031440" target="_blank"〉PubMed〈/a〉
    Keywords: Adolescent ; Adult ; Aged ; Aged, 80 and over ; Aging/*genetics ; Brain/embryology/*growth & development/*metabolism ; Child ; Child, Preschool ; Exons/genetics ; Female ; Fetus/metabolism ; *Gene Expression Profiling ; Gene Expression Regulation, Developmental/*genetics ; Gene Regulatory Networks/genetics ; Humans ; Infant ; Male ; Middle Aged ; Quality Control ; Quantitative Trait Loci/genetics ; Sex Characteristics ; Time Factors ; Transcriptome/*genetics ; Young Adult
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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    Phylogenomics reveals deep molluscan relationships (2011)
    Nature Publishing Group (NPG)
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    Publication Date: 2011-09-06
    Description: Evolutionary relationships among the eight major lineages of Mollusca have remained unresolved despite their diversity and importance. Previous investigations of molluscan phylogeny, based primarily on nuclear ribosomal gene sequences or morphological data, have been unsuccessful at elucidating these relationships. Recently, phylogenomic studies using dozens to hundreds of genes have greatly improved our understanding of deep animal relationships. However, limited genomic resources spanning molluscan diversity has prevented use of a phylogenomic approach. Here we use transcriptome and genome data from all major lineages (except Monoplacophora) and recover a well-supported topology for Mollusca. Our results strongly support the Aculifera hypothesis placing Polyplacophora (chitons) in a clade with a monophyletic Aplacophora (worm-like molluscs). Additionally, within Conchifera, a sister-taxon relationship between Gastropoda and Bivalvia is supported. This grouping has received little consideration and contains most (〉95%) molluscan species. Thus we propose the node-based name Pleistomollusca. In light of these results, we examined the evolution of morphological characters and found support for advanced cephalization and shells as possibly having multiple origins within Mollusca.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4024475/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4024475/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kocot, Kevin M -- Cannon, Johanna T -- Todt, Christiane -- Citarella, Mathew R -- Kohn, Andrea B -- Meyer, Achim -- Santos, Scott R -- Schander, Christoffer -- Moroz, Leonid L -- Lieb, Bernhard -- Halanych, Kenneth M -- 1R01GM097502/GM/NIGMS NIH HHS/ -- 1R01NS06076/NS/NINDS NIH HHS/ -- R01 GM097502/GM/NIGMS NIH HHS/ -- R01 NS039103/NS/NINDS NIH HHS/ -- R21 DA030118/DA/NIDA NIH HHS/ -- R21 RR025699/RR/NCRR NIH HHS/ -- R21DA030118/DA/NIDA NIH HHS/ -- England -- Nature. 2011 Sep 4;477(7365):452-6. doi: 10.1038/nature10382.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Biological Sciences, Auburn University, 101 Rouse Life Sciences, Auburn, Alabama 36849, USA. kmkocot@auburn.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/21892190" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Bivalvia/anatomy & histology/classification/genetics ; Expressed Sequence Tags ; Gastropoda/anatomy & histology/classification/genetics ; Gene Expression Profiling ; Genes ; Genome/*genetics ; Genomics ; Models, Biological ; Mollusca/anatomy & histology/*classification/*genetics ; *Phylogeny
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Published by Nature Publishing Group (NPG)
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