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  • Male  (255)
  • 2005-2009  (255)
  • 1940-1944
  • 2009  (255)
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  • 2005-2009  (255)
  • 1940-1944
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  • 1
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    A comprehensive catalogue of somatic mutations from a human cancer genome (2009)
    Nature Publishing Group (NPG)
    Details
    Publication Date: 2009-12-18
    Description: All cancers carry somatic mutations. A subset of these somatic alterations, termed driver mutations, confer selective growth advantage and are implicated in cancer development, whereas the remainder are passengers. Here we have sequenced the genomes of a malignant melanoma and a lymphoblastoid cell line from the same person, providing the first comprehensive catalogue of somatic mutations from an individual cancer. The catalogue provides remarkable insights into the forces that have shaped this cancer genome. The dominant mutational signature reflects DNA damage due to ultraviolet light exposure, a known risk factor for malignant melanoma, whereas the uneven distribution of mutations across the genome, with a lower prevalence in gene footprints, indicates that DNA repair has been preferentially deployed towards transcribed regions. The results illustrate the power of a cancer genome sequence to reveal traces of the DNA damage, repair, mutation and selection processes that were operative years before the cancer became symptomatic.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3145108/" 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/PMC3145108/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Pleasance, Erin D -- Cheetham, R Keira -- Stephens, Philip J -- McBride, David J -- Humphray, Sean J -- Greenman, Chris D -- Varela, Ignacio -- Lin, Meng-Lay -- Ordonez, Gonzalo R -- Bignell, Graham R -- Ye, Kai -- Alipaz, Julie -- Bauer, Markus J -- Beare, David -- Butler, Adam -- Carter, Richard J -- Chen, Lina -- Cox, Anthony J -- Edkins, Sarah -- Kokko-Gonzales, Paula I -- Gormley, Niall A -- Grocock, Russell J -- Haudenschild, Christian D -- Hims, Matthew M -- James, Terena -- Jia, Mingming -- Kingsbury, Zoya -- Leroy, Catherine -- Marshall, John -- Menzies, Andrew -- Mudie, Laura J -- Ning, Zemin -- Royce, Tom -- Schulz-Trieglaff, Ole B -- Spiridou, Anastassia -- Stebbings, Lucy A -- Szajkowski, Lukasz -- Teague, Jon -- Williamson, David -- Chin, Lynda -- Ross, Mark T -- Campbell, Peter J -- Bentley, David R -- Futreal, P Andrew -- Stratton, Michael R -- 077012/Z/05/Z/Wellcome Trust/United Kingdom -- 088340/Wellcome Trust/United Kingdom -- 093867/Wellcome Trust/United Kingdom -- England -- Nature. 2010 Jan 14;463(7278):191-6. doi: 10.1038/nature08658. Epub 2009 Dec 16.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/20016485" target="_blank"〉PubMed〈/a〉
    Keywords: Adult ; Cell Line, Tumor ; DNA Damage/genetics ; DNA Mutational Analysis ; DNA Repair/genetics ; Gene Dosage/genetics ; Genes, Neoplasm/*genetics ; Genome, Human/*genetics ; Humans ; Loss of Heterozygosity/genetics ; Male ; Melanoma/etiology/genetics ; MicroRNAs/genetics ; Mutagenesis, Insertional/genetics ; Mutation/*genetics ; Neoplasms/etiology/*genetics ; Polymorphism, Single Nucleotide/genetics ; Precision Medicine ; Sequence Deletion/genetics ; Ultraviolet Rays
    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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  • 2
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    A cure for euthanasia? (2009)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2009-09-19
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Grimm, David -- New York, N.Y. -- Science. 2009 Sep 18;325(5947):1490-3. doi: 10.1126/science.325_1490.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19762620" target="_blank"〉PubMed〈/a〉
    Keywords: Animal Welfare ; Animals ; Awards and Prizes ; *Cats ; Contraception/economics/methods/*veterinary ; Contraception, Immunologic/economics/methods/veterinary ; *Dogs ; Euthanasia, Animal ; Female ; *Foundations ; Male ; *Research Support as Topic ; Sterilization, Reproductive/economics/methods/*veterinary
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 3
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    A hub-and-spoke circuit drives pheromone attraction and social behaviour in C. elegans (2009)
    Nature Publishing Group (NPG)
    Details
    Publication Date: 2009-04-08
    Description: Innate social behaviours emerge from neuronal circuits that interpret sensory information on the basis of an individual's own genotype, sex and experience. The regulated aggregation behaviour of the nematode Caenorhabditis elegans, a simple animal with only 302 neurons, is an attractive system to analyse these circuits. Wild social strains of C. elegans aggregate in the presence of specific sensory cues, but solitary strains do not. Here we identify the RMG inter/motor neuron as the hub of a regulated circuit that controls aggregation and related behaviours. RMG is the central site of action of the neuropeptide receptor gene npr-1, which distinguishes solitary strains (high npr-1 activity) from wild social strains (low npr-1 activity); high RMG activity is essential for all aspects of social behaviour. Anatomical gap junctions connect RMG to several classes of sensory neurons known to promote aggregation, and to ASK sensory neurons, which are implicated in male attraction to hermaphrodite pheromones. We find that ASK neurons respond directly to pheromones, and that high RMG activity enhances ASK responses in social strains, causing hermaphrodite attraction to pheromones at concentrations that repel solitary hermaphrodites. The coordination of social behaviours by RMG suggests an anatomical hub-and-spoke model for sensory integration in aggregation, and points to functions for related circuit motifs in the C. elegans wiring diagram.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2760495/" 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/PMC2760495/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Macosko, Evan Z -- Pokala, Navin -- Feinberg, Evan H -- Chalasani, Sreekanth H -- Butcher, Rebecca A -- Clardy, Jon -- Bargmann, Cornelia I -- CA24487/CA/NCI NIH HHS/ -- F32 GM077943/GM/NIGMS NIH HHS/ -- F32 GM077943-03/GM/NIGMS NIH HHS/ -- GM07739/GM/NIGMS NIH HHS/ -- GM077943/GM/NIGMS NIH HHS/ -- R01 CA024487/CA/NCI NIH HHS/ -- R01 CA024487-30/CA/NCI NIH HHS/ -- T32 GM007739/GM/NIGMS NIH HHS/ -- T32 GM007739-30/GM/NIGMS NIH HHS/ -- Howard Hughes Medical Institute/ -- England -- Nature. 2009 Apr 30;458(7242):1171-5. doi: 10.1038/nature07886. Epub 2009 Apr 6.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Howard Hughes Medical Institute, Laboratory of Neural Circuits and Behavior, The Rockefeller University, 1230 York Avenue, New York, New York 10065, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19349961" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Caenorhabditis elegans/cytology/drug effects/*physiology ; Caenorhabditis elegans Proteins/genetics/metabolism ; Disorders of Sex Development ; Feeding Behavior/drug effects/physiology ; Male ; Models, Neurological ; Mutation ; Neural Pathways/drug effects/*physiology ; Neurons/drug effects/physiology ; Pheromones/pharmacology/*physiology ; Receptors, Neuropeptide Y/genetics/metabolism ; *Social Behavior
    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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  • 4
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    A human 5'-tyrosyl DNA phosphodiesterase that repairs topoisomerase-mediated DNA damage (2009)
    Nature Publishing Group (NPG)
    Details
    Publication Date: 2009-10-02
    Description: Topoisomerases regulate DNA topology and are fundamental to many aspects of chromosome metabolism. Their activity involves the transient cleavage of DNA, which, if it occurs near sites of endogenous DNA damage or in the presence of topoisomerase poisons, can result in abortive topoisomerase-induced DNA strand breaks. These breaks feature covalent linkage of the enzyme to the DNA termini by a 3'- or 5'-phosphotyrosyl bond and are implicated in hereditary human disease, chromosomal instability and cancer, and underlie the clinical efficacy of an important class of anti-tumour poisons. The importance of liberating DNA termini from trapped topoisomerase is illustrated by the progressive neurodegenerative disease observed in individuals containing a mutation in tyrosyl-DNA phosphodiesterase 1 (TDP1), an enzyme that cleaves 3'-phosphotyrosyl bonds. However, a complementary human enzyme that cleaves 5'-phosphotyrosyl bonds has not been reported, despite the effect of DNA double-strand breaks containing such termini on chromosome instability and cancer. Here we identify such an enzyme in human cells and show that this activity efficiently restores 5'-phosphate termini at DNA double-strand breaks in preparation for DNA ligation. This enzyme, TTRAP, is a member of the Mg(2+)/Mn(2+)-dependent family of phosphodiesterases. Cellular depletion of TTRAP results in increased susceptibility and sensitivity to topoisomerase-II-induced DNA double-strand breaks. TTRAP is, to our knowledge, the first human 5'-tyrosyl DNA phosphodiesterase to be identified, and we suggest that this enzyme is denoted tyrosyl DNA phosphodiesterase-2 (TDP2).〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Cortes Ledesma, Felipe -- El Khamisy, Sherif F -- Zuma, Maria C -- Osborn, Kay -- Caldecott, Keith W -- 085284/Wellcome Trust/United Kingdom -- BB/C516595/1/Biotechnology and Biological Sciences Research Council/United Kingdom -- C6563/A10192/Cancer Research UK/United Kingdom -- G0600776/Medical Research Council/United Kingdom -- G0901606/Medical Research Council/United Kingdom -- England -- Nature. 2009 Oct 1;461(7264):674-8. doi: 10.1038/nature08444.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Genome Damage and Stability Centre, University of Sussex, Science Park Road, Falmer, Brighton, Sussex BN1 9RQ, UK. fc55@sussex.ac.uk〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19794497" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Camptothecin/pharmacology ; Cell Extracts/chemistry ; Cell Line, Tumor ; DNA Breaks, Double-Stranded ; DNA Breaks, Single-Stranded ; *DNA Damage/drug effects ; *DNA Repair ; DNA Topoisomerases/*metabolism ; DNA Topoisomerases, Type I/metabolism ; DNA Topoisomerases, Type II/metabolism ; Etoposide/pharmacology ; Female ; Gene Library ; Genetic Complementation Test ; Humans ; Male ; Mice ; Nuclear Proteins/deficiency/genetics/isolation & purification/*metabolism ; Phosphoric Diester Hydrolases/genetics/metabolism ; Saccharomyces cerevisiae/drug effects/enzymology/genetics/metabolism ; Suppression, Genetic ; Transcription Factors/deficiency/genetics/isolation & purification/*metabolism
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 5
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    A key role for similarity in vicarious reward (2009)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2009-05-16
    Description: Humans appear to have an inherent prosocial tendency toward one another in that we often take pleasure in seeing others succeed. This fact is almost certainly exploited by game shows, yet why watching others win elicits a pleasurable vicarious rewarding feeling in the absence of personal economic gain is unclear. One explanation is that game shows use contestants who have similarities to the viewing population, thereby kindling kin-motivated responses (for example, prosocial behavior). Using a game show-inspired paradigm, we show that the interactions between the ventral striatum and anterior cingulate cortex subserve the modulation of vicarious reward by similarity, respectively. Our results support studies showing that similarity acts as a proximate neurobiological mechanism where prosocial behavior extends to unrelated strangers.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2839480/" 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/PMC2839480/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Mobbs, Dean -- Yu, Rongjun -- Meyer, Marcel -- Passamonti, Luca -- Seymour, Ben -- Calder, Andrew J -- Schweizer, Susanne -- Frith, Chris D -- Dalgleish, Tim -- MC_U105579214/Medical Research Council/United Kingdom -- MC_U105579215/Medical Research Council/United Kingdom -- U.1055.02.002.00001.01(79215)/Medical Research Council/United Kingdom -- Medical Research Council/United Kingdom -- New York, N.Y. -- Science. 2009 May 15;324(5929):900. doi: 10.1126/science.1170539.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Cognition and Brain Sciences Unit, Medical Research Council (MRC), Cambridge CB2 7EF, UK. dean.mobbs@mrc-cbu.cam.ac.uk〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19443777" target="_blank"〉PubMed〈/a〉
    Keywords: Adult ; Basal Ganglia/*physiology ; Brain Mapping ; Empathy ; Female ; Games, Experimental ; Gyrus Cinguli/*physiology ; Humans ; Magnetic Resonance Imaging ; Male ; Prefrontal Cortex/*physiology ; *Reward ; Self Concept ; *Social Behavior ; *Social Desirability ; Young Adult
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 6
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    A lifesaving arrangement (2009)
    Nature Publishing Group (NPG)
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    Publication Date: 2009-01-17
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉England -- Nature. 2009 Jan 15;457(7227):236. doi: 10.1038/457236a.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19148049" target="_blank"〉PubMed〈/a〉
    Keywords: *Acquired Immunodeficiency Syndrome/drug ; therapy/economics/epidemiology/prevention & control ; *Federal Government ; Female ; Humans ; International Cooperation ; *Leadership ; Male ; Sexual Abstinence ; United States/epidemiology
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 7
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    A luminal epithelial stem cell that is a cell of origin for prostate cancer (2009)
    Nature Publishing Group (NPG)
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    Publication Date: 2009-09-11
    Description: In epithelial tissues, the lineage relationship between normal progenitor cells and cell type(s) of origin for cancer has been poorly understood. Here we show that a known regulator of prostate epithelial differentiation, the homeobox gene Nkx3-1, marks a stem cell population that functions during prostate regeneration. Genetic lineage-marking demonstrates that rare luminal cells that express Nkx3-1 in the absence of testicular androgens (castration-resistant Nkx3-1-expressing cells, CARNs) are bipotential and can self-renew in vivo, and single-cell transplantation assays show that CARNs can reconstitute prostate ducts in renal grafts. Functional assays of Nkx3-1 mutant mice in serial prostate regeneration suggest that Nkx3-1 is required for stem cell maintenance. Furthermore, targeted deletion of the Pten tumour suppressor gene in CARNs results in rapid carcinoma formation after androgen-mediated regeneration. These observations indicate that CARNs represent a new luminal stem cell population that is an efficient target for oncogenic transformation in prostate cancer.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2800362/" 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/PMC2800362/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Wang, Xi -- Kruithof-de Julio, Marianna -- Economides, Kyriakos D -- Walker, David -- Yu, Hailong -- Halili, M Vivienne -- Hu, Ya-Ping -- Price, Sandy M -- Abate-Shen, Cory -- Shen, Michael M -- P01 CA154293/CA/NCI NIH HHS/ -- R01 DK076602/DK/NIDDK NIH HHS/ -- R01 DK076602-05/DK/NIDDK NIH HHS/ -- U01 CA084294/CA/NCI NIH HHS/ -- U01 CA084294-10/CA/NCI NIH HHS/ -- England -- Nature. 2009 Sep 24;461(7263):495-500. doi: 10.1038/nature08361. Epub 2009 Sep 9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Medicine, Herbert Irving Comprehensive Cancer Center, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19741607" target="_blank"〉PubMed〈/a〉
    Keywords: Androgens/deficiency/metabolism ; Animals ; Castration ; Cell Differentiation ; Cell Division ; *Cell Lineage ; Cell Transformation, Neoplastic ; Epithelial Cells/metabolism/*pathology/transplantation ; Gene Expression Regulation ; Homeodomain Proteins/genetics/metabolism ; Kidney ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Nude ; Neoplastic Stem Cells/metabolism/*pathology/transplantation ; PTEN Phosphohydrolase/deficiency/genetics ; Prostatic Neoplasms/genetics/metabolism/*pathology ; Regeneration ; Transcription Factors/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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  • 8
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    A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range (2009)
    Nature Publishing Group (NPG)
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    Publication Date: 2009-03-03
    Description: Brachydactyly type A1 (BDA1) was the first recorded disorder of the autosomal dominant Mendelian trait in humans, characterized by shortened or absent middle phalanges in digits. It is associated with heterozygous missense mutations in indian hedgehog (IHH). Hedgehog proteins are important morphogens for a wide range of developmental processes. The capacity and range of signalling is thought to be regulated by its interaction with the receptor PTCH1 and antagonist HIP1. Here we show that a BDA1 mutation (E95K) in Ihh impairs the interaction of IHH with PTCH1 and HIP1. This is consistent with a recent paper showing that BDA1 mutations cluster in a calcium-binding site essential for the interaction with its receptor and cell-surface partners. Furthermore, we show that in a mouse model that recapitulates the E95K mutation, there is a change in the potency and range of signalling. The mice have digit abnormalities consistent with the human disorder.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Gao, Bo -- Hu, Jianxin -- Stricker, Sigmar -- Cheung, Martin -- Ma, Gang -- Law, Kit Fong -- Witte, Florian -- Briscoe, James -- Mundlos, Stefan -- He, Lin -- Cheah, Kathryn S E -- Chan, Danny -- MC_U117560541/Medical Research Council/United Kingdom -- England -- Nature. 2009 Apr 30;458(7242):1196-200. doi: 10.1038/nature07862. Epub 2009 Mar 1.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Biochemistry, the University of Hong Kong, Hong Kong, China.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19252479" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Chickens ; DNA-Binding Proteins/genetics/metabolism ; Disease Models, Animal ; Female ; Hedgehog Proteins/*genetics/*metabolism ; Humans ; Limb Deformities, Congenital/*genetics/*metabolism ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Mutant Strains ; Mutation/*genetics ; Protein Binding ; Receptors, Cell Surface/genetics/metabolism ; *Signal Transduction
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  • 9
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    A p53-mediated DNA damage response limits reprogramming to ensure iPS cell genomic integrity (2009)
    Nature Publishing Group (NPG)
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    Publication Date: 2009-08-12
    Description: The reprogramming of differentiated cells to pluripotent cells (induced pluripotent stem (iPS) cells) is known to be an inefficient process. We recently reported that cells with short telomeres cannot be reprogrammed to iPS cells despite their normal proliferation rates, probably reflecting the existence of 'reprogramming barriers' that abort the reprogramming of cells with uncapped telomeres. Here we show that p53 (also known as Trp53 in mice and TP53 in humans) is critically involved in preventing the reprogramming of cells carrying various types of DNA damage, including short telomeres, DNA repair deficiencies, or exogenously inflicted DNA damage. Reprogramming in the presence of pre-existing, but tolerated, DNA damage is aborted by the activation of a DNA damage response and p53-dependent apoptosis. Abrogation of p53 allows efficient reprogramming in the face of DNA damage and the generation of iPS cells carrying persistent DNA damage and chromosomal aberrations. These observations indicate that during reprogramming cells increase their intolerance to different types of DNA damage and that p53 is critical in preventing the generation of human and mouse pluripotent cells from suboptimal parental cells.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3624089/" 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/PMC3624089/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Marion, Rosa M -- Strati, Katerina -- Li, Han -- Murga, Matilde -- Blanco, Raquel -- Ortega, Sagrario -- Fernandez-Capetillo, Oscar -- Serrano, Manuel -- Blasco, Maria A -- 232854/European Research Council/International -- England -- Nature. 2009 Aug 27;460(7259):1149-53. doi: 10.1038/nature08287. Epub 2009 Aug 9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Telomeres and Telomerase Group, Molecular Oncology Program, Spanish National Cancer Research Centre (CNIO), Melchor Fernandez Almagro 3, Madrid E-28029, Spain.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19668189" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Apoptosis ; Cells, Cultured ; Cellular Reprogramming/*physiology ; Chromosome Aberrations ; DNA Damage/genetics/*physiology ; DNA Repair ; Female ; Fibroblasts/cytology/metabolism ; Genomic Instability/genetics/*physiology ; Humans ; Male ; Mice ; Pluripotent Stem Cells/*cytology/*metabolism ; Telomere/genetics/metabolism ; Tumor Suppressor Protein p53/deficiency/genetics/*metabolism
    Print ISSN: 0028-0836
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    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 10
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    A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis (2009)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2009-03-17
    Description: beta-Amyloid precursor protein (APP) mutations cause familial Alzheimer's disease with nearly complete penetrance. We found an APP mutation [alanine-673--〉valine-673 (A673V)] that causes disease only in the homozygous state, whereas heterozygous carriers were unaffected, consistent with a recessive Mendelian trait of inheritance. The A673V mutation affected APP processing, resulting in enhanced beta-amyloid (Abeta) production and formation of amyloid fibrils in vitro. Co-incubation of mutated and wild-type peptides conferred instability on Abeta aggregates and inhibited amyloidogenesis and neurotoxicity. The highly amyloidogenic effect of the A673V mutation in the homozygous state and its anti-amyloidogenic effect in the heterozygous state account for the autosomal recessive pattern of inheritance and have implications for genetic screening and the potential treatment of Alzheimer's disease.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2728497/" 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/PMC2728497/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Di Fede, Giuseppe -- Catania, Marcella -- Morbin, Michela -- Rossi, Giacomina -- Suardi, Silvia -- Mazzoleni, Giulia -- Merlin, Marco -- Giovagnoli, Anna Rita -- Prioni, Sara -- Erbetta, Alessandra -- Falcone, Chiara -- Gobbi, Marco -- Colombo, Laura -- Bastone, Antonio -- Beeg, Marten -- Manzoni, Claudia -- Francescucci, Bruna -- Spagnoli, Alberto -- Cantu, Laura -- Del Favero, Elena -- Levy, Efrat -- Salmona, Mario -- Tagliavini, Fabrizio -- NS42029/NS/NINDS NIH HHS/ -- R01 NS042029/NS/NINDS NIH HHS/ -- R01 NS042029-01A1/NS/NINDS NIH HHS/ -- R01 NS042029-02/NS/NINDS NIH HHS/ -- R01 NS042029-03/NS/NINDS NIH HHS/ -- R01 NS042029-04/NS/NINDS NIH HHS/ -- R01 NS042029-05/NS/NINDS NIH HHS/ -- R01 NS042029-06/NS/NINDS NIH HHS/ -- New York, N.Y. -- Science. 2009 Mar 13;323(5920):1473-7. doi: 10.1126/science.1168979.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Division of Neurology and Neuropathology, "Carlo Besta" National Neurological Institute, 20133 Milan, Italy.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19286555" target="_blank"〉PubMed〈/a〉
    Keywords: Adult ; Alzheimer Disease/*genetics/metabolism ; Amino Acid Substitution ; Amyloid/*metabolism ; Amyloid beta-Peptides/chemistry/metabolism ; Amyloid beta-Protein Precursor/*genetics/metabolism ; Cell Line ; Dementia/*genetics/metabolism ; Female ; *Genes, Recessive ; Heterozygote ; Homozygote ; Humans ; Kinetics ; Male ; *Mutation ; Pedigree ; Peptide Fragments/chemistry/metabolism ; Protein Binding ; Transfection
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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