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1. Full Text Persistent DNA damage signalling triggers senescence-associated inflammatory cytokine secretion
by Campisi, Judith and Davalos, Albert R and Hoeijmakers, Wieteke A. M and Muñoz, Denise P and Campeau, Eric and Raza, Saba R and Patil, Christopher K and Rodier, Francis and Coppé, Jean-Philippe and Freund, Adam
Nature cell biology, ISSN 1465-7392, 08/2009, Volume 11, Issue 8, pp. 973 - 979
Life Sciences & Biomedicine | Science & Technology | Cell Biology | RNA, Small Interfering - genetics | Humans | Male | Green Fluorescent Proteins - genetics | Tumor Suppressor Protein p53 - genetics | DNA-Binding Proteins - metabolism | Telomerase - genetics | Transfection | Tumor Suppressor Proteins - genetics | Cell Cycle Proteins - genetics | Telomerase - metabolism | Nuclear Proteins - genetics | Protein-Serine-Threonine Kinases - metabolism | Fibroblasts - metabolism | Telomere - genetics | Cell Line | Green Fluorescent Proteins - metabolism | Tumor Suppressor Proteins - metabolism | Enzyme-Linked Immunosorbent Assay | Cell Cycle Proteins - metabolism | Cells, Cultured | Cytokines - secretion | Protein-Serine-Threonine Kinases - genetics | Tumor Suppressor Protein p53 - metabolism | Cellular Senescence - physiology | Cyclin-Dependent Kinase Inhibitor p16 - genetics | Nuclear Proteins - metabolism | Ataxia Telangiectasia Mutated Proteins | DNA-Binding Proteins - genetics | Interleukin-6 - secretion | Blotting, Western | Fibroblasts - radiation effects | Checkpoint Kinase 2 | Cyclin-Dependent Kinase Inhibitor p16 - metabolism | Signal Transduction - physiology | Fibroblasts - cytology | DNA Damage | Microscopy, Fluorescence | Physiological aspects | Cellular signal transduction | Genetic aspects | Research | Cytokines | DNA damage | Index Medicus
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2. Full Text DNA-SCARS: Distinct nuclear structures that sustain damage-induced senescence growth arrest and inflammatory cytokine secretion
by Rodier, Francis and Muñoz, Denise P and Teachenor, Robert and Chu, Victoria and Le, Oanh and Bhaumik, Dipa and Coppé, Jean-Philippe and Campeau, Eric and Beauséjour, Christian M and Kim, Sahn-Ho and Davalos, Albert R and Campisi, Judith
Journal of cell science, ISSN 0021-9533, 01/2011, Volume 124, Issue 1, pp. 68 - 81
Interleukin 6 (IL6) | Homologous recombination | Cellular senescence | Aging | Promyelocytic leukemia protein (PML) | DNA repair | Cancer | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Cell Line | Chromatin - metabolism | Tumor Suppressor Proteins - metabolism | Cytokines - metabolism | Cell Cycle - radiation effects | Humans | Mice, Inbred C57BL | Nuclear Proteins - metabolism | Transcription Factors - genetics | Transcription Factors - metabolism | Animals | Cell Nucleus - metabolism | Cell Nucleus - genetics | Cell Nucleus - radiation effects | X-Rays | Tumor Suppressor Proteins - genetics | Cellular Senescence - radiation effects | Mice | Histones - metabolism | Nuclear Proteins - genetics | Chromatin - genetics | Cytokines - genetics | DNA Damage - radiation effects | Promyelocytic Leukemia Protein | Index Medicus
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3. Full Text High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
by Hamdan, Fadi F and Myers, Candace T and Cossette, Patrick and Lemay, Philippe and Spiegelman, Dan and Laporte, Alexandre Dionne and Nassif, Christina and Diallo, Ousmane and Monlong, Jean and Cadieux-Dion, Maxime and Dobrzeniecka, Sylvia and Meloche, Caroline and Retterer, Kyle and Cho, Megan T and Rosenfeld, Jill A and Bi, Weimin and Massicotte, Christine and Miguet, Marguerite and Brunga, Ledia and Regan, Brigid M and Mo, Kelly and Tam, Cory and Hollingsworth, Georgie and FitzPatrick, David R and Canham, Natalie and Blair, Edward and Kerr, Bronwyn and Fry, Andrew E and Thomas, Rhys H and Shelagh, Joss and Hurst, Jane A and Brittain, Helen and Blyth, Moira and Lebel, Robert Roger and Gerkes, Erica H and Davis-Keppen, Laura and Stein, Quinn and Chung, Wendy K and Dorison, Sara J and Benke, Paul J and Fassi, Emily and Corsten-Janssen, Nicole and Kamsteeg, Erik-Jan and Mau-Them, Frederic T and Bruel, Ange-Line and Verloes, Alain and Õunap, Katrin and Wojcik, Monica H and Albert, Dara V.F and Venkateswaran, Sunita and Ware, Tyson and Liu, Yu-Chi and Mohammad, Shekeeb S and Bizargity, Peyman and Bacino, Carlos A and Leuzzi, Vincenzo and Martinelli, Simone and Dallapiccola, Bruno and Tartaglia, Marco and Blumkin, Lubov and Wierenga, Klaas J and Purcarin, Gabriela and O’Byrne, James J and Stockler, Sylvia and Lehman, Anna and Keren, Boris and Nougues, Marie-Christine and Mignot, Cyril and Auvin, Stéphane and Nava, Caroline and Hiatt, Susan M and Bebin, Martina and Shao, Yunru and Scaglia, Fernando and Lalani, Seema R and Frye, Richard E and Jarjour, Imad T and Jacques, Stéphanie and Boucher, Renee-Myriam and Riou, Emilie and Srour, Myriam and Carmant, Lionel and Lortie, Anne and Major, Philippe and Diadori, Paola and Dubeau, François and D’Anjou, Guy and Bourque, Guillaume and Sadleir, Lynette G and Campeau, Philippe M and Kibar, Zoha and Lafrenière, Ronald G and Mercimek-Mahmutoglu, Saadet and Boelman, Cyrus and Rouleau, Guy A and Scheffer, Ingrid E and Mefford, Heather C and Andrade, Danielle M and Rossignol, Elsa and Michaud, Jacques L and Deciphering Developmental Disorders Study and Deciphering Dev Disorders Study
American journal of human genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 664 - 685
NTRK2 | GABRB2 | GABBR2 | NUS1 | RAB11 | SNAP25 | CLTC | epileptic encephalopathy | DHDDS | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Recurrence | Seizures - genetics | Humans | Brain Diseases - genetics | Child, Preschool | Male | Mutation - genetics | Genome, Human - genetics | Intellectual Disability - genetics | Epilepsy - genetics | Female | Genome-Wide Association Study - methods | Child | Index Medicus | Life Sciences | Human health and pathology
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4. Full Text A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis
by Cheung, Yee Him and Gayden, Tenzin and Campeau, Philippe M and LeDuc, Charles A and Russo, Donna and Nguyen, Van-Hung and Guo, Jiancheng and Qi, Ming and Guan, Yanfang and Albrecht, Steffen and Moroz, Brenda and Eldin, Karen W and Lu, James T and Schwartzentruber, Jeremy and Malkin, David and Berghuis, Albert M and Emil, Sherif and Gibbs, Richard A and Burk, David L and Vanstone, Megan and Lee, Brendan H and Orchard, David and Boycott, Kym M and Chung, Wendy K and Jabado, Nada
American journal of human genetics, ISSN 0002-9297, 06/2013, Volume 92, Issue 6, pp. 996 - 1000
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Protein Structure, Tertiary | Amino Acid Sequence | Genetic Association Studies | Humans | Models, Molecular | Male | Receptors, Notch - genetics | Mutation, Missense | Myofibromatosis - congenital | Receptor, Platelet-Derived Growth Factor beta - chemistry | Myofibromatosis - genetics | Receptor, Platelet-Derived Growth Factor beta - genetics | Sequence Analysis, DNA | Genes, Dominant | Pedigree | Germ-Line Mutation | Female | Heterozygote | Receptor, Notch3 | Blood platelets | Blood vessels | Smooth muscle | Mutation | Tissues | Deoxyribonucleic acid--DNA | Tumors | Index Medicus | Report
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5. Full Text The genetic basis of DOORS syndrome: an exome-sequencing study
by Campeau, Philippe M, MD and Kasperaviciute, Dalia, PhD and Lu, James T, PhD and Burrage, Lindsay C, PhD and Kim, Choel, PhD and Hori, Mutsuki, MD and Powell, Berkley R, MD and Stewart, Fiona, MBBS and Félix, Têmis Maria, PhD and van den Ende, Jenneke, MD and Wisniewska, Marzena, PhD and Kayserili, Hülya, MD and Rump, Patrick, PhD and Nampoothiri, Sheela, MSc and Aftimos, Salim, MD and Mey, Antje, MD and Nair, Lal D V, MD and Begleiter, Michael L, MSc and De Bie, Isabelle, PhD and Meenakshi, Girish, MBBS and Murray, Mitzi L, MD and Repetto, Gabriela M, MD and Golabi, Mahin, MD and Blair, Edward, MD and Male, Alison, MD and Giuliano, Fabienne, MD and Kariminejad, Ariana, MD and Newman, William G and Bhaskar, Sanjeev S and Dickerson, Jonathan E and Kerr, Bronwyn and Banka, Siddharth and Giltay, Jacques C, PhD and Wieczorek, Dagmar, MD and Tostevin, Anna, MSc and Wiszniewska, Joanna, MD and Cheung, Sau Wai, Prof and Hennekam, Raoul C, Prof and Gibbs, Richard A, Prof and Lee, Brendan H, Prof and Sisodiya, Sanjay M, Prof
Lancet neurology, ISSN 1474-4422, 2014, Volume 13, Issue 1, pp. 44 - 58
Neurology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | Child, Preschool | Infant | Male | Hearing Loss, Sensorineural - genetics | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Nails, Malformed - genetics | Young Adult | Carrier Proteins - genetics | Exome - genetics | Hearing Loss, Sensorineural - diagnosis | Phenotype | Craniofacial Abnormalities - diagnosis | Hand Deformities, Congenital - genetics | Internationality | Intellectual Disability - diagnosis | Adolescent | Carrier Proteins - chemistry | Female | Child | Sequence Analysis, DNA - methods | Craniofacial Abnormalities - genetics | Nails, Malformed - diagnosis | Deafness | Medical research | Medical colleges | Epilepsy | Genomics | Medical genetics | Medicine, Experimental | Genetic research | Genetic aspects | Genomes | Seizures (Medicine) | Mental illness | Index Medicus | Calvaria
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6. Full Text Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability
by Edvardson, Simon and Murakami, Yoshiko and Nguyen, Thi Tuyet Mai and Shahrour, Maher and St-Denis, Anik and Shaag, Avraham and Damseh, Nadira and Le Deist, Françoise and Bryceson, Yenan and Abu-Libdeh, Bassam and Campeau, Philippe M and Kinoshita, Taroh and Elpeleg, Orly
Journal of medical genetics, ISSN 0022-2593, 03/2017, Volume 54, Issue 3, pp. 196 - 201
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Developmental Disabilities | Genetic Association Studies | Membrane Proteins - genetics | Humans | Hexosyltransferases - genetics | Abnormalities, Multiple | Male | Amino Acid Sequence - genetics | Epilepsy - physiopathology | Intellectual Disability - genetics | Intellectual Disability - physiopathology | Homozygote | Exome - genetics | Animals | Pedigree | Epilepsy - genetics | Female | Mice | Mutation | Complications and side effects | Phosphatidylinositol | Research | Mental retardation | Epilepsy | Index Medicus | Medicin och hälsovetenskap
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7. Full Text Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase
by Campeau, Philippe M and Lenk, Guy M and Lu, James T and Bae, Yangjin and Burrage, Lindsay and Turnpenny, Peter and Román Corona-Rivera, Jorge and Morandi, Lucia and Mora, Marina and Reutter, Heiko and Vulto-van Silfhout, Anneke T and Faivre, Laurence and Haan, Eric and Gibbs, Richard A and Meisler, Miriam H and Lee, Brendan H
American journal of human genetics, ISSN 0002-9297, 05/2013, Volume 92, Issue 5, pp. 781 - 791
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Limb Deformities, Congenital - genetics | Genetic Predisposition to Disease - genetics | Phosphatidylinositol Phosphates - metabolism | Flavoproteins - genetics | Humans | Micrognathism - genetics | Molecular Sequence Data | Genotype | Micrognathism - pathology | Sequence Analysis, DNA | Cleidocranial Dysplasia - pathology | Mutation, Missense - genetics | Phosphoric Monoester Hydrolases | Exome - genetics | Animals | Base Sequence | Cleidocranial Dysplasia - genetics | Fibroblasts | Ectodermal Dysplasia - pathology | Ectodermal Dysplasia - genetics | Mice | Bone Development - genetics | Frameshift Mutation - genetics | Limb Deformities, Congenital - pathology | Phosphoinositides | Genetic disorders | Gene mutations | Physiological aspects | Genetic research | Research | Health aspects | Genotype & phenotype | Mutation | Metabolism | Neurons | Correlation analysis | Rodents | Index Medicus | Report
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8. Full Text Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome
by Campeau, Philippe M and Kim, Jaeseung C and Lu, James T and Schwartzentruber, Jeremy A and Abdul-Rahman, Omar A and Schlaubitz, Silke and Murdock, David M and Jiang, Ming-Ming and Lammer, Edward J and Enns, Gregory M and Rhead, William J and Rowland, Jon and Robertson, Stephen P and Cormier-Daire, Valérie and Bainbridge, Matthew N and Yang, Xiang-Jiao and Gingras, Marie-Claude and Gibbs, Richard A and Rosenblatt, David S and Majewski, Jacek and Lee, Brendan H
American journal of human genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 282 - 289
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Blepharoptosis - genetics | Blepharophimosis - enzymology | Humans | Urogenital Abnormalities - enzymology | Histone Acetyltransferases - genetics | Male | Bone Diseases, Developmental - genetics | Cerebellum - abnormalities | Intellectual Disability - genetics | Exome | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Rubinstein-Taybi Syndrome - genetics | Epigenomics - methods | Blepharoptosis - enzymology | Heart Defects, Congenital - enzymology | Intellectual Disability - enzymology | Female | Rubinstein-Taybi Syndrome - enzymology | Musculoskeletal Abnormalities - enzymology | Abnormalities, Multiple - genetics | Mice, Inbred C57BL | Phenotype | Animals | Bone Diseases, Developmental - enzymology | Musculoskeletal Abnormalities - genetics | Abnormalities, Multiple - enzymology | Heterozygote | Mice | Mutation | Sequence Analysis, DNA - methods | Urogenital Abnormalities - genetics | Brain | Dysplasia | Usage | Genetic disorders | Gene mutations | Exome sequencing | Physiological aspects | Causes of | Genetic aspects | Research | Histones | Analysis | Genomics | Proteins | Rodents | Epigenetics | Genetic research | Gene expression | Cells | Index Medicus | Report
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