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Nature Genetics, ISSN 1061-4036, 01/2015, Volume 47, Issue 2, pp. 106 - 114
Cancers exhibit extensive mutational heterogeneity, and the resulting long-tail phenomenon complicates the discovery of genes and pathways that are... 
COHESIN | COMPONENTS | PATTERNS | LANDSCAPE | DISCOVERY | GENETICS & HEREDITY | Proteins | Gene mutations | Genetic research | Genetic aspects | Cellular signal transduction | Research | Health aspects | Cancer | Studies | Algorithms | Genes | Software | Genomes | Mutation | Index Medicus
Journal Article
Molecular Cell, ISSN 1097-2765, 02/2012, Volume 45, Issue 3, pp. 344 - 356
Journal Article
by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Ullmann, Jeremy F P and Hoogstraten, Charlotte A and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaëlle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I Chiara and Sanchez-Ferras, Oraly and Hu, Jennifer F and Boschat, Anne-Claire and Sanquer, Sylvia and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Gee, Heon Yung and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian K and Daga, Ankana and Basta, Tamara and Matejas, Verena and Scharmann, Karin and Kienast, Sana D and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gaffney, Patrick M and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-Ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okashah and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Ozaltin, Fatih and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth R and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish D and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Topaloglu, Rezan and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wierenga, Klaas J and Wolf, Matthias T F and Wong, Sik-Nin and Leidel, Sebastian A and Truglio, Gessica and Dedon, Peter C and Poduri, Annapurna and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Callewaert, Bert and van Tilbeurgh, Herman and Zenker, Martin and ...
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 10, pp. 1529 - 1529
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly... 
YEAST | UNFOLDED PROTEIN RESPONSE | TRANSFER-RNA MODIFICATION | DNA | KINASE | GENETICS & HEREDITY | SECKEL-SYNDROME | GENOME MAINTENANCE | WDR73 | GALLOWAY-MOWAT SYNDROME | MASS-SPECTROMETRY | Metalloendopeptidases - genetics | Protein-Serine-Threonine Kinases - deficiency | Microcephaly - genetics | Humans | Metalloendopeptidases - deficiency | Apoptosis - genetics | Multiprotein Complexes - genetics | Nephrotic Syndrome - genetics | DNA Repair - genetics | Telomere Homeostasis - genetics | Endoplasmic Reticulum Stress - genetics | Intracellular Signaling Peptides and Proteins - deficiency | Hernia, Hiatal - genetics | Intracellular Signaling Peptides and Proteins - genetics | Podocytes - metabolism | RNA, Transfer - metabolism | Protein-Serine-Threonine Kinases - genetics | Models, Molecular | Nephrotic Syndrome - pathology | Zebrafish | Cytoskeleton - ultrastructure | Nephrosis - genetics | Gene Knockout Techniques | Carrier Proteins - genetics | Podocytes - ultrastructure | Zebrafish Proteins - deficiency | Animals | RNA Processing, Post-Transcriptional - genetics | CRISPR-Cas Systems | Protein Conformation | Mice | Mutation | Zebrafish Proteins - genetics | Cell Movement | Genetic disorders | Gene mutations | Development and progression | Nephrotic syndrome | Genetic aspects | Microcephaly | Health aspects | Cell proliferation | Brain | CRISPR | Genes | DNA damage | Genomes | Lethality | Kinases | Proteins | Genotype & phenotype | Microencephaly | Actin | Biopsy | Cytoskeleton | Scientific imaging | Endoplasmic reticulum | Mass spectrometry | Deoxyribonucleic acid--DNA | Apoptosis | Index Medicus | Life Sciences
Journal Article
Journal Article
Nature, ISSN 0028-0836, 04/2007, Volume 446, Issue 7137, pp. 806 - 810
Journal Article
Nature Immunology, ISSN 1529-2908, 05/2010, Volume 11, Issue 5, pp. 395 - 402
Inflammasomes regulate the activity of caspase-1 and the maturation of interleukin 1. (IL-1.) and IL-18. AIM2 has been shown to bind DNA and engage the... 
RECOGNITION | TOLL-LIKE RECEPTOR | INDUCIBLE GENES | INNATE IMMUNE-RESPONSE | INFECTION | VACCINIA VIRUS | IMMUNOLOGY | MURINE CYTOMEGALOVIRUS | FRANCISELLA-TULARENSIS | CASPASE-1 ACTIVATION | FAMILY | Tularemia - metabolism | Cytoskeletal Proteins - genetics | Humans | Tularemia - genetics | Caspase 1 - metabolism | Multiprotein Complexes - genetics | Multiprotein Complexes - metabolism | Lymphocyte Activation - genetics | Transcription Factors - immunology | Cytokines - genetics | Macrophages - microbiology | DNA-Binding Proteins | DNA Viruses - pathogenicity | Macrophages - pathology | Killer Cells, Natural - virology | Listeriosis - genetics | Signal Transduction - genetics | DNA Virus Infections - genetics | Viral Load - immunology | Mice, Knockout | Macrophages - metabolism | DNA Virus Infections - immunology | Mice | Killer Cells, Natural - metabolism | Multiprotein Complexes - immunology | DNA Virus Infections - metabolism | Caspase 1 - immunology | Killer Cells, Natural - pathology | Signal Transduction - immunology | Macrophages - virology | Listeriosis - immunology | Tularemia - immunology | Killer Cells, Natural - immunology | Nuclear Proteins - genetics | Macrophages - immunology | Cytokines - immunology | Killer Cells, Natural - microbiology | Cell Line | Francisella tularensis - immunology | Listeriosis - metabolism | Cytokines - metabolism | DNA - immunology | Mice, Inbred C57BL | Nuclear Proteins - metabolism | Transcription Factors - genetics | Immunity, Innate | Nuclear Proteins - immunology | Viral Load - genetics | DNA Viruses - immunology | Transcription Factors - metabolism | Animals | Apoptosis Regulatory Proteins | Caspase 1 - genetics | DNA Viruses - growth & development | CARD Signaling Adaptor Proteins | Francisella tularensis - pathogenicity | Bacterial infections | Immune response | Cytomegalovirus infections | Research | DNA viruses | Health aspects | Risk factors | Index Medicus
Journal Article
by Santen, Gijs W. E and Aten, Emmelien and Vulto-van Silfhout, Anneke T and Pottinger, Caroline and van Bon, Bregje W. M and van Minderhout, Ivonne J. H. M and Snowdowne, Ronelle and van der Lans, Christian A. C and Boogaard, Merel and Linssen, Margot M. L and Vijfhuizen, Linda and van der Wielen, Michiel J. R and Vollebregt, M. J. Ellen and Breuning, Martijn H and Kriek, Marjolein and van Haeringen, Arie and den Dunnen, Johan T and Hoischen, Alexander and Clayton-Smith, Jill and de Vries, Bert B. A and Hennekam, Raoul C. M and van Belzen, Martine J and Almureikhi, Mariam and Baban, Anwar and Barbosa, Mafalda and Ben-Omran, Tawfeg and Berry, Katherine and Bigoni, Stefania and Boute, Odile and Brueton, Louise and van der Burgt, Ineke and Canham, Natalie and Chandler, Kate E and Chrzanowska, Krystyna and Collins, Amanda L and de Toni, Teresa and Dean, John and den Hollander, Nicolette S and Flore, Leigh Anne and Fryer, Alan and Gardham, Alice and Graham, John M and Harrison, Victoria and Horn, Denise and Jongmans, Marjolijn C and Josifova, gana and Kant, Sarina G and Kapoor, Seema and Kingston, Helen and Kini, Usha and Kleefstra, Tjitske and Krajewska-Walasek, Małgorzata and Kramer, Nancy and Maas, Saskia M and Maciel, Patricia and Mancini, Grazia M. S and Maystadt, Isabelle and McKee, Shane and Milunsky, Jeff M and Nampoothiri, Sheela and Newbury-Ecob, Ruth and Nikkel, Sarah M and Parker, Michael J and Pérez-Jurado, Luis A and Robertson, Stephen P and Rooryck, Caroline and Shears, Debbie and Silengo, Margherita and Singh, Ankur and Smigiel, Robert and Soares, Gabriela and Splitt, Miranda and Stewart, Helen and Sweeney, Elizabeth and Tassabehji, May and Tuysuz, Beyhan and van Eerde, Albertien M and Vincent-Delorme, Catherine and Wilson, Louise C and Yesil, Gozde and Coffin-Siris Consortium and Coffin-Siris consortium and the Coffin-Siris consortium
Human mutation, ISSN 1059-7794, 2013, Volume 34, Issue 11, pp. 1519 - 1528
Journal Article
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 09/2014, Volume 111, Issue 38, pp. E3948 - E3956
Journal Article