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1. Full Text Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy
by Nikopoulos, Konstantinos and Gilissen, Christian and Hoischen, Alexander and Erik van Nouhuys, C and Boonstra, F. Nienke and Blokland, Ellen A.W and Arts, Peer and Wieskamp, Nienke and Strom, Tim M and Ayuso, Carmen and Tilanus, Mauk A.D and Bouwhuis, Sanne and Mukhopadhyay, Arijit and Scheffer, Hans and Hoefsloot, Lies H and Veltman, Joris A and Cremers, Frans P.M and Collin, Rob W.J
American journal of human genetics, ISSN 0002-9297, 02/2010, Volume 86, Issue 2, pp. 240 - 247
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Classical genetics, quantitative genetics, hybrids | Human | General aspects. Genetic counseling | Vitreous body diseases | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Ophthalmology | Amino Acid Sequence | Retinal Diseases - genetics | Genome-Wide Association Study | Membrane Proteins - genetics | Humans | Molecular Sequence Data | Male | Mutation - genetics | Mutation, Missense - genetics | Membrane Proteins - chemistry | DNA Mutational Analysis | Pedigree | Base Pairing - genetics | Base Sequence | Polymorphism, Single Nucleotide - genetics | Retinal Diseases - pathology | Family | Female | Fundus Oculi | Sequence Analysis, DNA - methods | Genetic Linkage | Tetraspanins | Linkage (Genetics) | Research | Nucleotide sequence | Gene mutations | Genetic disorders | Genes | Genomics | Retina | Eye diseases | Mutation | Chromosomes | Index Medicus | Report
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2. Full Text Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2
by Yue, Wei-Hua and Wang, Hai-Feng and Sun, Liang-Dan and Tang, Fu-Lei and Liu, Zhong-Hua and Zhang, Hong-Xing and Li, Wen-Qiang and Zhang, Yan-Ling and Zhang, Yang and Ma, Cui-Cui and Du, Bo and Wang, Li-Fang and Ren, Yun-Qing and Yang, Yong-Feng and Hu, Xiao-Feng and Wang, Yi and Deng, Wei and Tan, Li-Wen and Tan, Yun-Long and Chen, Qi and Xu, Guang-Ming and Yang, Gui-Gang and Zuo, Xian-Bo and Yan, Hao and Ruan, Yan-Yan and Lu, Tian-Lan and Han, Xue and Ma, Xiao-Hong and Wang, Yan and Cai, Li-Wei and Jin, Chao and Zhang, Hong-Yan and Yan, Jun and Mi, Wei-Feng and Yin, Xian-Yong and Ma, Wen-Bin and Liu, Qi and Kang, Lan and Sun, Wei and Pan, Cheng-Ying and Shuang, Mei and Yang, Fu-De and Wang, Chuan-Yue and Yang, Jian-Li and Li, Ke-Qing and Ma, Xin and Li, Ling-Jiang and Yu, Xin and Li, Qi-Zhai and Huang, Xun and Lv, Lu-Xian and Li, Tao and Zhao, Guo-Ping and Huang, Wei and Zhang, Xue-Jun and Zhang, Dai
Nature genetics, ISSN 1061-4036, 12/2011, Volume 43, Issue 12, pp. 1228 - 1231
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Human | Psychology. Psychoanalysis. Psychiatry | Psychoses | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Schizophrenia | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Population genetics, reproduction patterns | Humans | Male | Genetic Loci | Case-Control Studies | Brain - metabolism | Schizophrenia - genetics | Adult | Female | Transcription, Genetic | Nuclear Proteins - genetics | Tetraspanins - genetics | Principal Component Analysis | Genetic Predisposition to Disease | Genome-Wide Association Study | Gene Frequency | Chromosomes, Human, Pair 6 | DNA-Binding Proteins - genetics | Co-Repressor Proteins - genetics | Nerve Tissue Proteins - genetics | Mice, Inbred ICR | Asian Continental Ancestry Group | Schizophrenia - ethnology | Animals | Chromosomes, Human, Pair 11 | Mice | Polymorphism, Single Nucleotide | Quantitative Trait Loci | Genetic aspects | Disease susceptibility | Research | Single nucleotide polymorphisms | Risk factors | Studies | Brain | Genealogy | Pathogenesis | Genomics | Quality control | Genetics | Data processing | Genomes | Manuscripts | Index Medicus
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3. Full Text Immunochip Meta-Analysis of Inflammatory Bowel Disease Identifies Three Novel Loci and Four Novel Associations in Previously Reported Loci
by Hong, Myunghee and Ye, Byong Duk and Yang, Suk-Kyun and Jung, Seulgi and Lee, Ho-Su and Kim, Byoung Mok and Lee, Soo Bin and Hong, Jeonghoon and Baek, Jiwon and Park, Sang Hyoung and Han, Buhm and Li, Yi and Liu, Wenting and Haritunians, Talin and Taylor, Kent D and Rotter, Jerome I and Bang, So-Young and Kim, Tae-Hwan and McGovern, Dermot P B and Liu, Jianjun and Song, Kyuyoung
Journal of Crohn's and colitis, ISSN 1873-9946, 05/2018, Volume 12, Issue 6, pp. 730 - 741
Inflammatory bowel disease | Trans-ethnic | Meta-analysis | Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Republic of Korea - ethnology | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Membrane Proteins - genetics | Humans | Asian Continental Ancestry Group - genetics | Protein Phosphatase 2 - genetics | Protein-Serine-Threonine Kinases - genetics | Repressor Proteins - genetics | NF-KappaB Inhibitor alpha - genetics | Genetic Loci | Phosphoproteins - genetics | Myosins - genetics | Nerve Tissue Proteins - genetics | Proteasome Endopeptidase Complex - genetics | Ribonuclease P - genetics | Inflammatory Bowel Diseases - genetics | Trans-Activators - genetics | Polymorphism, Single Nucleotide | Nuclear Proteins - genetics | Tetraspanins - genetics | Intracellular Signaling Peptides and Proteins - genetics | Inflammatory Bowel Diseases - ethnology | Index Medicus | meta-analysis | trans-ethnic | Original
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4. Full Text Association of indices of liver and adipocyte insulin resistance with 19 confirmed susceptibility loci for type 2 diabetes in 6,733 non-diabetic Finnish men
by Vangipurapu, J and Vangipurapu, J and Stančáková, A and Stančáková, A and Pihlajamäki, J and Pihlajamäki, J and Kuulasmaa, T M and Kuulasmaa, T M and Kuulasmaa, T and Kuulasmaa, T and Paananen, J and Paananen, J and Kuusisto, J and Kuusisto, J and Ferrannini, E and Ferrannini, E and Laakso, M and Laakso, M
Diabetologia, ISSN 0012-186X, 3/2011, Volume 54, Issue 3, pp. 563 - 571
Type 2 diabetes | Liver insulin resistance | Medicine & Public Health | Human Physiology | Metabolic Diseases | Internal Medicine | Adipocyte insulin resistance | Genetics | Non-esterified fatty acids | 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 | Zinc Transporter 8 | Diabetes Mellitus, Type 2 - genetics | Humans | Middle Aged | Male | Receptor, Notch2 - genetics | Adipocytes - physiology | Liver - physiopathology | Cyclin-Dependent Kinase 5 - genetics | Cyclin-Dependent Kinase Inhibitor p15 - genetics | Insulin Resistance - physiology | Cell Cycle Proteins - genetics | Cation Transport Proteins - genetics | Neoplasm Proteins - genetics | Hepatocyte Nuclear Factor 1-beta - genetics | PPAR gamma - genetics | Tetraspanins | Antigens, Neoplasm - genetics | Genetic Predisposition to Disease - genetics | Transcription Factor 7-Like 2 Protein - genetics | Membrane Proteins - genetics | Liver - metabolism | Potassium Channels, Inwardly Rectifying - genetics | Transcription Factors - genetics | Homeodomain Proteins - genetics | Membrane Glycoproteins - genetics | ADAMTS9 Protein | Diabetes Mellitus, Type 2 - physiopathology | tRNA Methyltransferases | Adipocytes - metabolism | Finland | Insulin Resistance - genetics | Polymorphism, Single Nucleotide | ADAM Proteins - genetics | Insulin resistance | Disease susceptibility | Glucose tolerance tests | Fatty acids | Liver | Index Medicus
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5. Full Text TSPAN15 interacts with BTRC to promote oesophageal squamous cell carcinoma metastasis via activating NF-κB signaling
by Zhang, Baozhu and Zhang, Zhao and Li, Lei and Qin, Yan-Ru and Liu, Haibo and Jiang, Chen and Zeng, Ting-Ting and Li, Meng-Qing and Xie, Dan and Li, Yan and Guan, Xin-Yuan and Zhu, Ying-Hui
Nature communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1423 - 12
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Tumor Necrosis Factor-alpha - metabolism | Neoplasm Transplantation | RNA, Small Interfering - genetics | Carcinoma, Squamous Cell - genetics | Carcinoma, Squamous Cell - metabolism | Carcinoma, Squamous Cell - pathology | Humans | Middle Aged | Tumor Necrosis Factor-alpha - genetics | Gene Expression Regulation, Neoplastic | Male | MicroRNAs - metabolism | NF-KappaB Inhibitor alpha - genetics | NF-kappa B - metabolism | Esophageal Neoplasms - pathology | Matrix Metalloproteinase 9 - metabolism | beta-Transducin Repeat-Containing Proteins - metabolism | Neoplasm Grading | Matrix Metalloproteinase 9 - genetics | Esophageal Neoplasms - metabolism | Female | Vascular Cell Adhesion Molecule-1 - genetics | Chemokine CCL2 - metabolism | Tetraspanins - genetics | Tetraspanins - metabolism | beta-Transducin Repeat-Containing Proteins - genetics | Esophageal Squamous Cell Carcinoma | Signal Transduction | Chemokine CCL2 - genetics | Lymphatic Metastasis | Urokinase-Type Plasminogen Activator - genetics | Tetraspanins - antagonists & inhibitors | Intercellular Adhesion Molecule-1 - metabolism | Animals | Esophageal Neoplasms - genetics | NF-kappa B - genetics | Urokinase-Type Plasminogen Activator - metabolism | Mice, Nude | Intercellular Adhesion Molecule-1 - genetics | NF-KappaB Inhibitor alpha - metabolism | Cell Line, Tumor | Aged | Mice | MicroRNAs - genetics | Neoplasm Staging | Vascular Cell Adhesion Molecule-1 - metabolism | RNA, Small Interfering - metabolism | Ubiquitin | Translocation | NF-κB protein | Squamous cell carcinoma | Intercellular adhesion molecule 1 | Therapeutic applications | Transducin | Metastasis | Tumor necrosis factor-α | Tissues | Gene expression | Nuclear transport | Lymph nodes | Gelatinase B | Metastases | Esophagus | Degradation | Signaling | Ubiquitination | Transcription activation | Proteasomes | Biomarkers | Monocyte chemoattractant protein 1 | Ubiquitin-protein ligase | Index Medicus
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6. Full Text The CD63-Syntenin-1 Complex Controls Post-Endocytic Trafficking of Oncogenic Human Papillomaviruses
by Gräßel, Linda and Fast, Laura Aline and Scheffer, Konstanze D and Boukhallouk, Fatima and Spoden, Gilles A and Tenzer, Stefan and Boller, Klaus and Bago, Ruzica and Rajesh, Sundaresan and Overduin, Michael and Berditchevski, Fedor and Florin, Luise
Scientific reports, ISSN 2045-2322, 08/2016, Volume 6, Issue 1, pp. 32337 - 32337
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Humans | Endosomal Sorting Complexes Required for Transport - genetics | Multiprotein Complexes - genetics | Uterine Cervical Neoplasms - pathology | Cell Cycle Proteins - chemistry | Papillomavirus Infections - pathology | Cell Cycle Proteins - genetics | Female | Papillomavirus Infections - virology | Tetraspanin 30 - genetics | Endocytosis - genetics | Endosomal Sorting Complexes Required for Transport - chemistry | Human papillomavirus 18 - genetics | Calcium-Binding Proteins - chemistry | Human papillomavirus 16 - pathogenicity | Carcinogenesis - genetics | Uterine Cervical Neoplasms - genetics | Protein Transport - genetics | Papillomavirus Infections - genetics | Syntenins - genetics | Multiprotein Complexes - chemistry | Human papillomavirus 18 - pathogenicity | Tetraspanin 30 - chemistry | Human papillomavirus 31 - genetics | Protein Binding | Uterine Cervical Neoplasms - virology | HeLa Cells | Human papillomavirus 16 - genetics | Calcium-Binding Proteins - genetics | Human papillomavirus 31 - pathogenicity | Uncoating | Proteins | Clathrin | Human papillomavirus | CD63 antigen | Infectivity | Electron microscopy | Immunofluorescence | Endosomes | Index Medicus
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7. Full Text Familial exudative vitreoretinopathy and related retinopathies
by Gilmour, D.F
Eye (London), ISSN 0950-222X, 01/2015, Volume 29, Issue 1, pp. 1 - 14
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Retinal Diseases - genetics | Low Density Lipoprotein Receptor-Related Protein-5 - genetics | Retinal Diseases - complications | Vitreoretinopathy, Proliferative - complications | Humans | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Vitreoretinopathy, Proliferative - genetics | Frizzled Receptors - genetics | Eye Proteins - genetics | Tetraspanins - genetics | Index Medicus | Review
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8. Full Text DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation
by Richard, Melissa A and Huan, Tianxiao and Ligthart, Symen and Gondalia, Rahul and Jhun, Min A and Brody, Jennifer A and Irvin, Marguerite R and Marioni, Riccardo and Shen, Jincheng and Tsai, Pei-Chien and Montasser, May E and Jia, Yucheng and Syme, Catriona and Salfati, Elias L and Boerwinkle, Eric and Guan, Weihua and Mosley, Thomas H and Bressler, Jan and Morrison, Alanna C and Liu, Chunyu and Mendelson, Michael M and Uitterlinden, André G and van Meurs, Joyce B and Heijmans, Bastiaan T and ’t Hoen, Peter A.C and van Meurs, Joyce and Isaacs, Aaron and Jansen, Rick and Franke, Lude and Boomsma, Dorret I and Pool, René and van Dongen, Jenny and Hottenga, Jouke J and van Greevenbroek, Marleen M.J and Stehouwer, Coen D.A and van der Kallen, Carla J.H and Schalkwijk, Casper G and Wijmenga, Cisca and Zhernakova, Alexandra and Tigchelaar, Ettje F and Slagboom, P. Eline and Beekman, Marian and Deelen, Joris and van Heemst, Diana and Veldink, Jan H and van den Berg, Leonard H and van Duijn, Cornelia M and Hofman, Albert and Uitterlinden, André G and Jhamai, P. Mila and Verbiest, Michael and Suchiman, H. Eka D and Verkerk, Marijn and van der Breggen, Ruud and van Rooij, Jeroen and Lakenberg, Nico and Mei, Hailiang and van Iterson, Maarten and van Galen, Michiel and Bot, Jan and van ’t Hof, Peter and Deelen, Patrick and Nooren, Irene and Moed, Matthijs and Vermaat, Martijn and Zhernakova, Dasha V and Luijk, René and Bonder, Marc Jan and van Dijk, Freerk and Arindrarto, Wibowo and Kielbasa, Szymon M and Swertz, Morris A and van Zwet, Erik W and Franco, Oscar H and Zhang, Guosheng and Li, Yun and Stewart, James D and Bis, Joshua C and Psaty, Bruce M and Chen, Yii-Der Ida and Kardia, Sharon L.R and Zhao, Wei and Turner, Stephen T and Absher, Devin and Aslibekyan, Stella and Starr, John M and McRae, Allan F and Hou, Lifang and Just, Allan C and Schwartz, Joel D and Vokonas, Pantel S and Menni, Cristina and Spector, Tim D and Shuldiner, Alan and Damcott, Coleen M and Rotter, Jerome I and Palmas, Walter and Liu, Yongmei and Paus, Tomáš and Horvath, Steve and ... and BIOS Consortium
American journal of human genetics, ISSN 0002-9297, 12/2017, Volume 101, Issue 6, pp. 888 - 902
DNA methylation | blood pressure | epigenome-wide association study | sequence variation | Mendelian randomization | gene expression | HEART | INDIVIDUALS | METAANALYSIS | VARIANTS | COMMON | RISK | POPULATIONS | HYPERTENSION | EXPRESSION | GENOME-WIDE ASSOCIATION | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genome-Wide Association Study | Cross-Sectional Studies | Blood Pressure - genetics | Humans | Middle Aged | DNA Methylation - genetics | Nerve Tissue Proteins - genetics | Epigenesis, Genetic - genetics | Mendelian Randomization Analysis | CpG Islands - genetics | Aged | Genetic Variation - genetics | Tetraspanins - genetics | Quantitative Trait Loci - genetics | Index Medicus
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