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1. Full Text Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men
by Auguste, Yasmina and Delague, Valérie and Desvignes, Jean-Pierre and Longepied, Guy and Gnisci, Audrey and Besnier, Pierre and Levy, Nicolas and Beroud, Christophe and Megarbane, André and Metzler-Guillemain, Catherine and Mitchell, Michael J
American journal of human genetics, ISSN 0002-9297, 09/2018, Volume 103, Issue 3, pp. 413 - 420
flagellum | genetic disorder | spermatogenesis | asthenozoospermia | male infertility | human | mitochondrial sheath | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Calmodulin-Binding Proteins - genetics | Calmodulin - genetics | Spermatozoa - pathology | Sperm Motility - genetics | Humans | Male | Mutation - genetics | Axoneme - genetics | Cilia - genetics | Exome - genetics | Infertility, Male - genetics | Sperm Tail - pathology | Mitochondria - genetics | Tetrahymena - genetics | Cell Line, Tumor | Female | Dyneins - genetics | HeLa Cells | Calcium-Binding Proteins - genetics | Usage | Care and treatment | Spermatozoa | Gene mutations | Genetic variation | Infertility, Male | Genetic aspects | Research | Electron microscopy | Physiological aspects | Index Medicus | Life Sciences | Genetics | Sexual reproduction | Human genetics | Reproductive Biology | Report
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2. Full Text Similar DNA methylation pattern in lung tumours from smokers and never-smokers with second-hand tobacco smoke exposure
by Scesnaite, Asta and Jarmalaite, Sonata and Mutanen, Pertti and Anttila, Sisko and Nyberg, Fredrik and Benhamou, Simone and Boffetta, Paolo and Husgafvel-Pursiainen, Kirsti
Mutagenesis, ISSN 0267-8357, 07/2012, Volume 27, Issue 4, pp. 423 - 429
Toxicology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Molecular genetics | Biological and medical sciences | Cell physiology | Molecular and cellular biology | Cell transformation and carcinogenesis. Action of oncogenes and antioncogenes | Mutagenesis. Repair | Lung Neoplasms - genetics | Calcium-Calmodulin-Dependent Protein Kinases - genetics | Carcinoma, Squamous Cell - genetics | Humans | Middle Aged | DNA Repair Enzymes - genetics | Cyclin-Dependent Kinase Inhibitor p16 - genetics | Male | Promoter Regions, Genetic - genetics | Receptors, Retinoic Acid - genetics | DNA Methylation | DNA Modification Methylases - genetics | Tobacco Smoke Pollution - adverse effects | Tumor Suppressor Proteins - genetics | Apoptosis Regulatory Proteins - genetics | Female | Adenocarcinoma - genetics | Aged | Biomarkers, Tumor - genetics | Tobacco - adverse effects | Death-Associated Protein Kinases | Index Medicus
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3. Full Text Convergent lines of evidence support CAMKK2 as a schizophrenia susceptibility gene
by Luo, X.-J and Li, M and Huang, L and Steinberg, S and Mattheisen, M and Liang, G and Donohoe, G and Shi, Y and Chen, C and Yue, W and Alkelai, A and Lerer, B and Li, Z and Yi, Q and Rietschel, M and Cichon, S and Collier, D.A and Tosato, S and Suvisaari, J and Rujescu, Dan and Golimbet, V and Silagadze, T and Durmishi, N and Milovancevic, M.P and Stefansson, H and Schulze, T.G and Nöthen, M.M and Chen, C and Lyne, R and Morris, D.W and Gill, M and Corvin, A and Zhang, D and Dong, Q and Moyzis, R.K and Stefansson, K and Sigurdsson, E and Hu, F and SCZ Consortium36, Consortium36 and Su, B and Gan, L and MooDs SCZ Consortium and MooDS SCZ Consortium
Molecular psychiatry, ISSN 1359-4184, 2014, Volume 19, Issue 7, pp. 774 - 783
association | protein-protein interaction | expression | eQTL | schizophrenia | CAMKK2 | Biochemistry & Molecular Biology | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Science & Technology | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Down-Regulation | Humans | Asian Continental Ancestry Group - genetics | Databases, Genetic | Genotype | Personality - genetics | Cognition | Schizophrenic Psychology | Calcium-Calmodulin-Dependent Protein Kinase Kinase - genetics | Case-Control Studies | Brain - metabolism | Schizophrenia - genetics | Protein Interaction Maps - genetics | Alleles | Calcium-Calmodulin-Dependent Protein Kinase Kinase - metabolism | Polymorphism, Single Nucleotide - genetics | Schizophrenia | Genetic research | Genetic aspects | Disease susceptibility | Research | Gene expression | Risk factors | Index Medicus
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4. Full Text Whole-genome landscape of pancreatic neuroendocrine tumours
by Scarpa, Aldo and Chang, David K and Nones, Katia and Corbo, Vincenzo and Patch, Ann-Marie and Bailey, Peter and Lawlor, Rita T and Johns, Amber L and Miller, David K and Mafficini, Andrea and Rusev, Borislav and Scardoni, Maria and Antonello, Davide and Barbi, Stefano and Sikora, Katarzyna O and Cingarlini, Sara and Vicentini, Caterina and McKay, Skye and Quinn, Michael C.J and Bruxner, Timothy J.C and Christ, Angelika N and Harliwong, Ivon and Idrisoglu, Senel and McLean, Suzanne and Nourse, Craig and Nourbakhsh, Ehsan and Wilson, Peter J and Anderson, Matthew J and Fink, J. Lynn and Newell, Felicity and Waddell, Nick and Holmes, Oliver and Kazakoff, Stephen H and Leonard, Conrad and Wood, Scott and Xu, Qinying and Nagaraj, Shivashankar Hiriyur and Amato, Eliana and Dalai, Irene and Bersani, Samantha and Cataldo, Ivana and Dei Tos, Angelo P and Capelli, Paola and Davì, Maria Vittoria and Landoni, Luca and Malpaga, Anna and Miotto, Marco and Whitehall, Vicki L.J and Leggett, Barbara A and Harris, Janelle L and Harris, Jonathan and Jones, Marc D and Humphris, Jeremy and Chantrill, Lorraine A and Chin, Venessa and Nagrial, Adnan M and Pajic, Marina and Scarlett, Christopher J and Pinho, Andreia and Rooman, Ilse and Toon, Christopher and Wu, Jianmin and Pinese, Mark and Cowley, Mark and Barbour, Andrew and Mawson, Amanda and Humphrey, Emily S and Colvin, Emily K and Chou, Angela and Lovell, Jessica A and Jamieson, Nigel B and Duthie, Fraser and Gingras, Marie-Claude and Fisher, William E and Dagg, Rebecca A and Lau, Loretta M.S and Lee, Michael and Pickett, Hilda A and Reddel, Roger R and Samra, Jaswinder S and Kench, James G and Merrett, Neil D and Epari, Krishna and Nguyen, Nam Q and Falconi, Massimo and Simbolo, Michele and Butturini, Giovanni and Van Buren, George and Partelli, Stefano and Khanna, Kum Kum and Gill, Anthony J and Wheeler, David A and Gibbs, Richard A and Musgrove, Elizabeth A and Tortora, Giampaolo and Pederzoli, Paolo and Pearson, John V and Waddell, Nicola and Biankin, Andrew V and Grimmond, Sean M and Australian Pancreatic Canc Genome and Australian Pancreatic Cancer Genome Initiative
Nature (London), ISSN 0028-0836, 03/2017, Volume 543, Issue 7643, pp. 65 - 71
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Calmodulin-Binding Proteins - genetics | RNA-Binding Proteins - genetics | TOR Serine-Threonine Kinases - metabolism | Genomics | Humans | DNA Glycosylases - genetics | Carcinoma, Neuroendocrine - genetics | Chromatin Assembly and Disassembly - genetics | Male | Pancreatic Neoplasms - genetics | DNA Copy Number Variations - genetics | DNA Repair - genetics | Germ-Line Mutation - genetics | Genome, Human - genetics | DNA Mutational Analysis | Base Sequence | Chromosome Aberrations | Female | Telomere - metabolism | RNA-Binding Protein EWS | Telomere - genetics | Genetic aspects | Nucleotide sequencing | Pancreatic cancer | Methods | DNA sequencing | Genes | Biomarkers | Genomes | Mutation | Signatures | Patients | Tumors | Index Medicus
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5. Full Text Contribution of common genetic variation to the risk of type 2 diabetes in the Mexican Mestizo population
by Gamboa-Meléndez, Marco Alberto and Huerta-Chagoya, Alicia and Moreno-Macías, Hortensia and Vázquez-Cárdenas, Paola and Ordóñez-Sánchez, María Luisa and Rodríguez-Guillén, Rosario and Riba, Laura and Rodríguez-Torres, Maribel and Guerra-García, María Teresa and Guillén-Pineda, Luz Elizabeth and Choudhry, Shweta and Del Bosque-Plata, Laura and Canizales-Quinteros, Samuel and Pérez-Ortiz, Gustavo and Escobedo-Aguirre, Fernando and Parra, Adalberto and Lerman-Garber, Israel and Aguilar-Salinas, Carlos Alberto and Tusié-Luna, María Teresa
Diabetes (New York, N.Y.), ISSN 0012-1797, 12/2012, Volume 61, Issue 12, pp. 3314 - 3321
Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Biological and medical sciences | Endocrinopathies | Etiopathogenesis. Screening. Investigations. Target tissue resistance | Diabetes. Impaired glucose tolerance | Medical sciences | Endocrine pancreas. Apud cells (diseases) | RNA-Binding Proteins - genetics | Calcium-Calmodulin-Dependent Protein Kinase Type 1 - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | KCNQ1 Potassium Channel - genetics | Transcription Factor 7-Like 2 Protein - genetics | Zinc Transporter 8 | Diabetes Mellitus, Type 2 - genetics | Humans | Middle Aged | Genotype | Male | Transcription Factors - genetics | Homeodomain Proteins - genetics | Cyclin-Dependent Kinase 5 - genetics | Cyclin-Dependent Kinase Inhibitor p15 - genetics | tRNA Methyltransferases | Polymorphism, Single Nucleotide - genetics | Cation Transport Proteins - genetics | Female | Mexico | Type 2 diabetes | Racially mixed people | Genetic variation | Mexicans | Genetic aspects | Health aspects | Risk factors | Index Medicus | Abridged Index Medicus | Metabolomics | Genetics | Genomes | Proteomics
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6. Full Text Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death
by Nyegaard, Mette and Overgaard, Michael T and Sondergaard, Mads T and Vranas, Marta and Behr, Elijah R and Hildebrandt, Lasse L and Lund, Jacob and Hedley, Paula L and Camm, A. John and Wettrell, Göran and Fosdal, Inger and Christiansen, Michael and Borglum, Anders D
American journal of human genetics, ISSN 0002-9297, 10/2012, Volume 91, Issue 4, pp. 703 - 712
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy | Medical genetics | Biological and medical sciences | Intensive care medicine | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Emergency and intensive care: neonates and children. Prematurity. Sudden death | Amino Acid Sequence | Calmodulin - genetics | Genetic Predisposition to Disease | Syncope - genetics | Humans | Child, Preschool | Molecular Sequence Data | Male | Death, Sudden, Cardiac - etiology | Mutation, Missense | Young Adult | Ryanodine Receptor Calcium Release Channel - genetics | Adolescent | Tachycardia, Ventricular - genetics | Adult | Chromosomes, Human, Pair 14 | Female | Heterozygote | Calcium Channels - genetics | Child | Arrhythmias, Cardiac - genetics | Gene mutations | Cardiac arrest | Causes of | Ventricular tachycardia | Genetic aspects | Research | Health aspects | Calmodulin | Heart attacks | Exercise | Genetic disorders | Mutation | Calcium | Chromosomes | Index Medicus | Report | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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7. Full Text Translocation-associated Salivary Gland Tumors: A Review and Update
by Weinreb, Ilan
Advances in anatomic pathology, ISSN 1072-4109, 11/2013, Volume 20, Issue 6, pp. 367 - 377
hyalinizing clear cell carcinoma | pleomorphic adenoma | translocation | mammary analog secretory carcinoma | adenoid cystic carcinoma | mucoepidermoid carcinoma | Life Sciences & Biomedicine | Pathology | Science & Technology | Adenoma, Pleomorphic - genetics | RNA-Binding Proteins - genetics | Translocation, Genetic | Proto-Oncogene Proteins c-ets - genetics | Salivary Gland Neoplasms - genetics | Humans | NFI Transcription Factors - genetics | Carcinoma, Mucoepidermoid - genetics | Receptor, trkC - genetics | Carcinoma - pathology | Nuclear Proteins - genetics | Activating Transcription Factor 1 - genetics | Calmodulin-Binding Proteins - genetics | Carcinoma, Adenoid Cystic - pathology | Repressor Proteins - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Carcinoma, Mucoepidermoid - pathology | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Carcinoma, Adenoid Cystic - genetics | Oncogene Proteins, Fusion - genetics | Adenoma, Pleomorphic - pathology | Carcinoma - genetics | Oncogene Proteins v-myb - genetics | Adenocarcinoma, Clear Cell - pathology | Salivary Gland Neoplasms - pathology | Adenocarcinoma, Clear Cell - genetics | RNA-Binding Protein EWS | Index Medicus
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8. Full Text Divergence of evolutionary ways among common sym genes: CASTOR and CCaMK show functional conservation between two symbiosis systems and constitute the root of a common signaling pathway
by Banba, M.(National Inst. of Agrobiological Sciences, Tsukuba, Ibaraki (Japan)) and Gutjahr, C and Miyao, A and Hirochika, H and Paszkowski, U and Kouchi, H and Imaizumi Anraku, H
Plant and cell physiology, ISSN 0032-0781, 11/2008, Volume 49, Issue 11, pp. 1659 - 1671
MUTANT | SIMBIOSIS | VESICULAR ARBUSCULAR MYCORRHIZAE | MICORRIZAS ARBUSCULARES VESICULARES | SYMBIOSE | MYCORHIZE A VESICULE ET ARBUSCULE | NUDOSIDADES RADICULARES | ORYZA SATIVA | MEDICAGO TRUNCATULA | NODOSITE RACINAIRE | MUTANTS | MUTANTES | ROOT NODULES | GENE | GENES | LOTUS | SYMBIOSIS | Oryza sativa | Lotus japonicus | Common symbiosis pathway | Arbuscular mycorrhizal symbiosis | Rice | Root nodule symbiosis | Life Sciences & Biomedicine | Plant Sciences | Science & Technology | Cell Biology | Symbiosis | Root Nodules, Plant - metabolism | Calcium-Calmodulin-Dependent Protein Kinases - genetics | Genes, Plant | Oryza - metabolism | Loteae - metabolism | Root Nodules, Plant - genetics | Loteae - microbiology | Mycorrhizae - physiology | Genetic Complementation Test | Plant Proteins - genetics | Phenotype | Sequence Alignment | Oryza - genetics | Oryza - microbiology | Cloning, Molecular | Mutagenesis, Insertional | Plant Proteins - metabolism | Mutation | Calcium-Calmodulin-Dependent Protein Kinases - metabolism | DNA, Plant - genetics | Loteae - genetics | Evolution, Molecular | Index Medicus
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