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1. Full Text Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling
by Melki, Isabelle, MD and Rose, Yoann, BSc and Uggenti, Carolina, PhD and Van Eyck, Lien, MD and Frémond, Marie-Louise, MD and Kitabayashi, Naoki, BSc and Rice, Gillian I., PhD and Jenkinson, Emma M., PhD and Boulai, Anaïs, BSc and Jeremiah, Nadia, PhD and Gattorno, Marco, MD and Volpi, Sefano, MD, PhD and Sacco, Olivero, MD and Terheggen-Lagro, Suzanne W.J., MD and Tiddens, Harm A.W.M., MD, PhD and Meyts, Isabelle, MD, PhD and Morren, Marie-Anne, MD and De Haes, Petra, MD, PhD and Wouters, Carine, MD, PhD and Legius, Eric, MD, PhD and Corveleyn, Anniek, PhD and Rieux-Laucat, Frederic, PhD and Bodemer, Christine, MD, PhD and Callebaut, Isabelle, PhD and Rodero, Mathieu P., PhD and Crow, Yanick J., MD, PhD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 140, Issue 2, pp. 543 - 552.e5
Allergy and Immunology | type I interferonopathy | Stimulator of interferon genes (STING) | TMEM173 | interferon | STING-associated vasculopathy with onset in infancy | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Signal Transduction | Membrane Proteins - genetics | Humans | Male | STAT1 Transcription Factor - metabolism | Adolescent | HEK293 Cells | Inflammation - genetics | Interferon Type I - genetics | Interferon Type I - metabolism | Adult | Female | Mutation | Child | Amino Acid Substitution | Autoimmunity | Genetic aspects | Interferon | Hospitals | Biological response modifiers | Analysis | RNA viruses | Membrane fusion | Phosphorylation | Disease | Lung diseases | Amino acids | Viruses | Kinases | Ribonucleic acid--RNA | Patients | Proteins | Pathology | Cytometry | Vascular diseases | Mutagenesis | Genetic analysis | Janus kinase | Skin diseases | Lesions | Deoxyribonucleic acid--DNA | Structural analysis | Index Medicus | Abridged Index Medicus | Life Sciences
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2. Full Text Desensitization to a whole egg by rush oral immunotherapy improves the quality of life of guardians: A multicenter, randomized, parallel-group, delayed-start design study
by Itoh-Nagato, Naoka and Inoue, Yuzaburo and Nagao, Mizuho and Fujisawa, Takao and Shimojo, Naoki and Iwata, Tsutomu and Adachi, Yuichi and Arakawa, Koichi and Arima, Takayasu and Fukushima, Keitaro and Hoshioka, Akira and Igarashi, Takashi and Itazawa, Toshiko and Itoh, Komei and Kameda, Makoto and Kando, Naoyuki and Kato, Izumi and Kitabayashi, Taeru and Kobayashi, Takae and Koyama, Harumi and Morita, Yoshinori and Nakano, Taiji and Suzuki, Shuichi and Takaoka, Yuri and Tomiita, Minako and Yagi, Hisako and Yajima, Yuko and Yamaide, Akiko and Yasui, Masahiro and Yoshihara, Shigemi and J-OIT group and fDepartment of Education for Childcare and cDepartment of General Medical Science and Chiba University and Eastern Chiba Medical Center and bDepartment of Pediatrics and Faculty of Child Studies and Tokyo Kasei University and Graduate School of Medicine and Mie National Hospital and dAllergy Center and aDepartment of Pediatrics and Shimoshizu National Hospital and eDepartment of Pediatrics and J-OIT Grp
Allergology international, ISSN 1323-8930, 2018, Volume 67, Issue 2, pp. 209 - 216
Food allergy | Guardians | Desensitization | Oral immunotherapy | Quality of life | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Index Medicus
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3. Full Text Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer
by Barbieri, Christopher E and Baca, Sylvan C and Lawrence, Michael S and Demichelis, Francesca and Blattner, Mirjam and Theurillat, Jean-Philippe and White, Thomas A and Stojanov, Petar and Van Allen, Eliezer and Stransky, Nicolas and Nickerson, Elizabeth and Chae, Sung-Suk and Boysen, Gunther and Auclair, Daniel and Onofrio, Robert C and Park, Kyung and Kitabayashi, Naoki and MacDonald, Theresa Y and Sheikh, Karen and Vuong, Terry and Guiducci, Candace and Cibulskis, Kristian and Sivachenko, Andrey and Carter, Scott L and Saksena, Gordon and Voet, Douglas and Hussain, Wasay M and Ramos, Alex H and Winckler, Wendy and Redman, Michelle C and Ardlie, Kristin and Tewari, Ashutosh K and Mosquera, Juan Miguel and Rupp, Niels and Wild, Peter J and Moch, Holger and Morrissey, Colm and Nelson, Peter S and Kantoff, Philip W and Gabriel, Stacey B and Golub, Todd R and Meyerson, Matthew and Lander, Eric S and Getz, Gad and Rubin, Mark A and Garraway, Levi A
Nature genetics, ISSN 1061-4036, 06/2012, Volume 44, Issue 6, pp. 685 - 689
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Tumors of the urinary system | Urinary tract. Prostate gland | Gynecology. Andrology. Obstetrics | Nephrology. Urinary tract diseases | Biological and medical sciences | Cell physiology | Molecular and cellular biology | Medical sciences | Cell transformation and carcinogenesis. Action of oncogenes and antioncogenes | Male genital diseases | Tumors | Exome | Prostatic Neoplasms - genetics | Microtubule-Associated Proteins - genetics | Humans | Male | Mediator Complex - genetics | Hepatocyte Nuclear Factor 3-alpha - genetics | Mutation | Sequence Analysis, DNA | Usage | Gene mutations | Genetic aspects | Research | Nucleotide sequencing | Health aspects | Prostate cancer | Risk factors | DNA sequencing | Studies | Proteins | Kinases | Index Medicus
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4. Full Text The genomic complexity of primary human prostate cancer
by Berger, Michael F and Lawrence, Michael S and Demichelis, Francesca and Drier, Yotam and Cibulskis, Kristian and Sivachenko, Andrey Y and Sboner, Andrea and Esgueva, Raquel and Pflueger, Dorothee and Sougnez, Carrie and Onofrio, Robert and Carter, Scott L and Park, Kyung and Habegger, Lukas and Ambrogio, Lauren and Fennell, Timothy and Parkin, Melissa and Saksena, Gordon and Voet, Douglas and Ramos, Alex H and Pugh, Trevor J and Wilkinson, Jane and Fisher, Sheila and Winckler, Wendy and Mahan, Scott and Ardlie, Kristin and Baldwin, Jennifer and Simons, Jonathan W and Kitabayashi, Naoki and MacDonald, Theresa Y and Kantoff, Philip W and Chin, Lynda and Gabriel, Stacey B and Gerstein, Mark B and Golub, Todd R and Meyerson, Matthew and Tewari, Ashutosh and Lander, Eric S and Getz, Gad and Rubin, Mark A and Garraway, Levi A
Nature (London), ISSN 0028-0836, 02/2011, Volume 470, Issue 7333, pp. 214 - 220
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Fundamental and applied biological sciences. Psychology | Gynecology. Andrology. Obstetrics | Biological and medical sciences | Cell physiology | Molecular and cellular biology | Medical sciences | Cell transformation and carcinogenesis. Action of oncogenes and antioncogenes | Male genital diseases | Tumors | Chromatin - metabolism | PTEN Phosphohydrolase - genetics | Cell Adhesion Molecules - genetics | Chromosome Breakpoints | Humans | Gene Expression Regulation, Neoplastic | PTEN Phosphohydrolase - metabolism | Male | Signal Transduction - genetics | Case-Control Studies | Genome, Human - genetics | Carrier Proteins - genetics | Prostatic Neoplasms - genetics | Epigenesis, Genetic - genetics | Chromosome Aberrations | Recombination, Genetic - genetics | Transcription, Genetic | Chromatin - genetics | Care and treatment | Genetic aspects | Prostate cancer | Health aspects | Genomics | Stem cells | Epigenetics | Gene loci | Genetic engineering | Mutation | Stress response | Chromosomes | Deoxyribonucleic acid--DNA | Index Medicus
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5. Full Text AlleleSeq: analysis of allele‐specific expression and binding in a network framework
by Rozowsky, Joel and Abyzov, Alexej and Wang, Jing and Alves, Pedro and Raha, Debasish and Harmanci, Arif and Leng, Jing and Bjornson, Robert and Kong, Yong and Kitabayashi, Naoki and Bhardwaj, Nitin and Rubin, Mark and Snyder, Michael and Gerstein, Mark
Molecular systems biology, ISSN 1744-4292, 2011, Volume 7, Issue 1, pp. 522 - n/a
allele‐specific | networks | RNA‐Seq | ChIP‐Seq | ChIP-Seq | RNA-Seq | allele-specific | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Cell Line | Chromosomes, Human, X - genetics | Oligonucleotide Array Sequence Analysis | Humans | Molecular Sequence Annotation | Gene Expression Regulation | Databases, Genetic | Chromosome Mapping | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Gene Regulatory Networks | Chromosomes, Human, Y - genetics | DNA-Binding Proteins - metabolism | Transcription Factors - metabolism | Sequence Analysis, RNA | Alleles | Polymorphism, Single Nucleotide | Genome, Human | Binding | Construction | Transcription factors | Deactivation | Nucleotide sequence | Pipelines | X chromosomes | Data processing | Genomes | Single-nucleotide polymorphism | Ribonucleic acid--RNA | Inactivation | Gene expression | X-chromosome inactivation | Annotations | Computation | Correlation analysis | Data sets | Computer applications | Gene mapping | Index Medicus
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6. Full Text MicroRNA analysis as a potential diagnostic tool for papillary thyroid carcinoma
by Chen, Yao-Tseng and Kitabayashi, Naoki and Zhou, Xi K and Fahey III, Thomas J and Scognamiglio, Theresa
Modern pathology, ISSN 0893-3952, 09/2008, Volume 21, Issue 9, pp. 1139 - 1146
microRNA | Molecular diagnosis | Papillary thyroid carcinoma | Cancer | Life Sciences & Biomedicine | Pathology | Science & Technology | Thyroid Neoplasms - diagnosis | Carcinoma, Papillary, Follicular - diagnosis | Oligonucleotide Array Sequence Analysis | Adenoma - genetics | Humans | Gene Expression Regulation, Neoplastic | Thyroid Nodule - diagnosis | MicroRNAs - metabolism | Adenoma - metabolism | Paraffin Embedding | Molecular Diagnostic Techniques | RNA, Neoplasm - analysis | Biomarkers, Tumor - metabolism | Thyroid Nodule - genetics | Adenoma - diagnosis | Thyroid Nodule - metabolism | Reverse Transcriptase Polymerase Chain Reaction | Thyroidectomy | Carcinoma, Papillary, Follicular - metabolism | Carcinoma, Papillary, Follicular - genetics | Thyroid Neoplasms - genetics | Biopsy | Thyroid Gland - pathology | Biomarkers, Tumor - genetics | MicroRNAs - genetics | Thyroid Gland - metabolism | Thyroid Neoplasms - metabolism | Index Medicus
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7. Full Text Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease
by Rice, Gillian I and Rice, Gillian I and Melki, Isabelle and Melki, Isabelle and Frémond, Marie-Louise and Frémond, Marie-Louise and Briggs, Tracy A and Briggs, Tracy A and Rodero, Mathieu P and Rodero, Mathieu P and Kitabayashi, Naoki and Kitabayashi, Naoki and Oojageer, Anthony and Oojageer, Anthony and Bader-Meunier, Brigitte and Bader-Meunier, Brigitte and Belot, Alexandre and Belot, Alexandre and Bodemer, Christine and Bodemer, Christine and Quartier, Pierre and Quartier, Pierre and Crow, Yanick J and Crow, Yanick J
Journal of clinical immunology, ISSN 0271-9142, 2/2017, Volume 37, Issue 2, pp. 123 - 132
Medical Microbiology | Biomedicine | Immunology | autoinflammatory disease | interferonopathy | autoinflammation | Infectious Diseases | Internal Medicine | Interferon | Life Sciences & Biomedicine | Science & Technology | Age Factors | Humans | Middle Aged | Interferon Regulatory Factors - metabolism | Child, Preschool | Infant | Male | Gene Expression Profiling | Case-Control Studies | Young Adult | Inflammation - metabolism | Aged, 80 and over | Interferon Type I - metabolism | Adult | Female | Inflammation - diagnosis | Child | Infant, Newborn | Genetic Association Studies | Signal Transduction | Gene Expression Regulation | Interferon Regulatory Factors - genetics | Genotype | Inflammation - etiology | Phenotype | Adolescent | Biomarkers | Aged | Autoimmunity | Pediatrics | Analysis | Children | Biological response modifiers | Diseases | Index Medicus | Life Sciences | Microbiology and Parasitology | Bacteriology | Virology | Original
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8. Full Text Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics
by Ekta Khurana and Yao Fu and Vincenza Colonna and Xinmeng Jasmine Mu and Hyun Min Kang and Tuuli Lappalainen and Andrea Sboner and Lucas Lochovsky and Jieming Chen and Arif Harmanci and Jishnu Das and Alexej Abyzov and Suganthi Balasubramanian and Kathryn Beal and Dimple Chakravarty and Daniel Challis and Yuan Chen and Declan Clarke and Laura Clarke and Fiona Cunningham and Uday S. Evani and Paul Flicek and Robert Fragoza and Erik Garrison and Richard Gibbs and Zeynep H. Gümüş and Javier Herrero and Naoki Kitabayashi and Yong Kong and Kasper Lage and Vaja Liluashvili and Steven M. Lipkin and Daniel G. MacArthur and Gabor Marth and Donna Muzny and Tune H. Pers and Graham R. S. Ritchie and Jeffrey A. Rosenfeld and Cristina Sisu and Xiaomu Wei and Michael Wilson and Yali Xue and Fuli Yu and Emmanouil T. Dermitzakis and Haiyuan Yu and Mark A. Rubin and Chris Tyler-Smith and Mark Gerstein and 1000 Genomes Project Consortium
Science (American Association for the Advancement of Science), ISSN 0036-8075, 10/2013, Volume 342, Issue 6154, pp. 84 - 84
RESEARCH ARTICLE SUMMARY | Genomes | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Genomics | Humans | Selection, Genetic | Molecular Sequence Annotation - methods | Binding Sites - genetics | RNA, Untranslated - genetics | Genetic Variation | Neoplasms - genetics | Kruppel-Like Transcription Factors - metabolism | Polymorphism, Single Nucleotide | Mutation | Genome, Human | Population - genetics | Index Medicus
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