المؤلفون: Xianglong Zhang, Ying Zhang, Xiaowei Zhu, Carolin Purmann, Michael S. Haney, Thomas Ward, Arineh Khechaduri, Jie Yao, Sherman M. Weissman, Alexander E. Urban

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-15 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/e9aab59abbe142e29443cfd1acc2965a

المؤلفون: Xianglong Zhang, Alexander E. Urban, Wing Hung Wong, Shining Ma, Reenal Pattni, Carolin Purmann, Kasey N. Davis, Joachim Hallmayer, Anima Shrestha, Marcus Ho, Yiling Huang, Jonathan A. Bernstein, Siming Zhang

المصدر: Biol Psychiatry

مصطلحات موضوعية: 0301 basic medicine, Chromosome Disorders, Biology, Article, Epigenome, 03 medical and health sciences, 0302 clinical medicine, Seizures, Intellectual Disability, Humans, Gene family, Copy-number variation, Gene, Biological Psychiatry, Gene knockout, Neurons, Genetics, Chromosomes, Human, Pair 15, Chromatin, 030104 developmental biology, DNA methylation, Chromosome Deletion, Transcriptome, Haploinsufficiency, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af5550cd59299f953c2434e1bbe995f2
https://doi.org/10.1016/j.biopsych.2020.06.021

المؤلفون: Shi-Bin Li, Valentina Martinez Damonte, Chong Chen, Gordon X. Wang, Justus M. Kebschull, Hiroshi Yamaguchi, Wen-Jie Bian, Carolin Purmann, Reenal Pattni, Alexander Eckehart Urban, Philippe Mourrain, Julie A. Kauer, Grégory Scherrer, Luis de Lecea

المصدر: Science

مصطلحات موضوعية: Male, Aging, Patch-Clamp Techniques, Hypothalamus, Aminopyridines, Nerve Tissue Proteins, Article, KCNQ3 Potassium Channel, Mice, Neural Pathways, Animals, KCNQ2 Potassium Channel, RNA-Seq, Wakefulness, Narcolepsy, Neurons, Orexins, Multidisciplinary, Electromyography, Electroencephalography, Optogenetics, Sleep Quality, nervous system, Hypothalamic Area, Lateral, Sleep Deprivation, Female, CRISPR-Cas Systems, Sleep

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7c117e92fda14fd45b62d9ff2986465
https://doi.org/10.1126/science.abh3021

المؤلفون: Alexis Mitelpunkt, Koji Tanabe, Anshul Kundaje, Wing Hung Wong, Cheen Euong Ang, Jonathan A. Bernstein, Tamas Danko, Soumya Kundu, Bruce J. Aronow, Joachim Hallmayer, Carolin Purmann, Alexander E. Urban, Shining Ma, Thomas C. Südhof, Yue Zhang, Marius Wernig

مصطلحات موضوعية: Transcriptome, microRNA, Epigenome, Biology, Functional genomics, Phenotype, Gene, Reprogramming, Chromatin, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6ac794fc56f488fdc1f69e3270cabe91
https://doi.org/10.1101/2021.10.14.464344

المؤلفون: Philip Dexheimer, Jeffrey L. Dage, Xianglong Zhang, Thomas J. Ward, Yu-Wen Alvin Huang, Yingfei Liu, Marius Wernig, Zhiping P. Pang, Tamas Danko, ChangHui Pak, Jinzhao Wang, Vincent R. Mirabella, Kang Jin, Michael McLachlan, Madhuri Vangipuram, Carolin Purmann, Jennifer C. Moore, Junyi Ma, Bradley J. Swanson, Sarah Grieder, Eric E. Bardes, Douglas F. Levinson, Alexis Mitelpunkt, Bruce J. Aronow, Alexander E. Urban, Thomas C. Südhof, Pingping Qu

المصدر: Proc Natl Acad Sci U S A

مصطلحات موضوعية: 0301 basic medicine, Heterozygote, Mutant, Induced Pluripotent Stem Cells, Neurexin, Gene Expression, Neuroligin, Neurotransmission, Biology, medicine.disease_cause, Cohort Studies, Synapse, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, Humans, CASK, Induced pluripotent stem cell, Neurotransmitter, Neural Cell Adhesion Molecules, Cells, Cultured, Embryonic Stem Cells, Neurons, Mutation, Neurotransmitter Agents, Multidisciplinary, Drug discovery, Calcium-Binding Proteins, Biological Sciences, Phenotype, Embryonic stem cell, 030104 developmental biology, chemistry, Case-Control Studies, Cell Transdifferentiation, Schizophrenia, NMDA receptor, Guanylate Kinases, Neuroscience, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4862173dfbc4ea72fe8169d61db3d2ea
https://doi.org/10.1073/pnas.2025598118

المؤلفون: Joachim Hallmayer, Wendy M Froehlich-Santino, Sean Berquist, Jonathan A. Bernstein, Gillian Reierson, Josh Jordan, Carolin Purmann, Alexander E. Urban, Ruth O'Hara

المصدر: Journal of Psychiatric Research. 91:139-144

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Pediatrics, Adolescent, Chromosomes, Human, Pair 22, Chromosome Disorders, 22q13 deletion syndrome, Electroencephalography, Article, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Seizures, medicine, Humans, Age of Onset, Child, Psychiatry, Genetic Association Studies, Biological Psychiatry, Language, medicine.diagnostic_test, Medical record, Infant, Newborn, Infant, Contrast (statistics), medicine.disease, Regression, Regression, Psychology, Psychiatry and Mental health, 030104 developmental biology, Motor Skills, Child, Preschool, Autism, Female, Chromosome Deletion, Psychology, Developmental regression, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::241aec07363784eb30fa88dc68eb54d9
https://doi.org/10.1016/j.jpsychires.2017.03.010

المؤلفون: Kasey N. Davis, Jonathan A. Bernstein, Wing Hung Wong, Carolin Purmann, Alexander E. Urban, Shining Ma, Siming Zhang, Joachim Hallmayer, Xianglong Zhang

مصطلحات موضوعية: Genetics, 0303 health sciences, Epigenome, Biology, Chromatin, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, DNA methylation, Copy-number variation, Induced pluripotent stem cell, Haploinsufficiency, Gene, 030217 neurology & neurosurgery, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46e6c785f83f2cafe4405f9faf2b5f61
https://doi.org/10.1101/772541

المؤلفون: Sarah Grieder, Reenal Pattni, Yiling Huang, Bruce J. Aronow, Alexander E. Urban, Tom Sudhof, Carolin Purmann, Douglas F. Levinson, Marius Wernig, Xianglong Zhang, ChangHui Pak

المصدر: European Neuropsychopharmacology. 29:S172-S173

مصطلحات موضوعية: Pharmacology, Transcriptome, Psychiatry and Mental health, Neurology, Pharmacology (medical), Neurology (clinical), Biology, Biological Psychiatry, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2e8ca3f60abd6eda94b80084e3714c99
https://doi.org/10.1016/j.euroneuro.2019.08.112

المؤلفون: Xiaowei Zhu, Sherman M. Weissman, Carolin Purmann, Michael S. Haney, Thomas J. Ward, Ying Zhang, Jie Yao, Alexander E. Urban, Xianglong Zhang

المصدر: European Neuropsychopharmacology. 29:S854-S855

مصطلحات موضوعية: Pharmacology, Genetics, 0303 health sciences, Autosome, Locus (genetics), Biology, Genome, Chromatin, 03 medical and health sciences, Psychiatry and Mental health, 0302 clinical medicine, Histone, Neurology, biology.protein, Pharmacology (medical), Human genome, Neurology (clinical), Copy-number variation, Gene, 030217 neurology & neurosurgery, Biological Psychiatry, 030304 developmental biology, Epigenomics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8edc9bb9ec383dfe9fae0d7de15e394c
https://doi.org/10.1016/j.euroneuro.2017.08.131

المؤلفون: Wing Hung Wong, Jonathan A. Bernstein, Alexander E. Urban, Xianglong Zhang, Shining Ma, Carolin Purmann, Kasey N. Davis, Joachim Hallmayer, Siming Zhang

المصدر: European Neuropsychopharmacology. 29:S105

مصطلحات موضوعية: Pharmacology, Psychiatry and Mental health, Neurology, DNA methylation, Gene expression, Pharmacology (medical), Biological neuron model, Neurology (clinical), Biology, Biological Psychiatry, Cell biology, Chromatin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::77d25cf592ce11b14b4c79fd9c1e566b
https://doi.org/10.1016/j.euroneuro.2019.07.222

المؤلفون: Angelo Scuteri, Chris Wallace, Rachel Hackett, Sonja I. Berndt, Richard B. Hayes, Peter Vollenweider, Susan M. Ring, Lauren Gianniny, Alistair S. Hall, Christopher J. Gillson, Karani Santhanakrishnan Vimaleswaran, Karol Estrada, Thomas Meitinger, Kay-Tee Khaw, Nicholas J. Timpson, Willem H. Ouwehand, Cristen J. Willer, Andy R Ness, Peter S. Chines, Wendy L. McArdle, I. Sadaf Farooqi, Eleftheria Zeggini, Jouko Saramies, Amanda J. Bennett, Matthew A. Sims, Richard M. Watanabe, David M. Evans, Patricia B. Munroe, Toshiko Tanaka, Francis S. Collins, Peter Kraft, Morris Brown, Inês Barroso, Sheila Bingham, John M. C. Connell, Jian'an Luan, Pekka Jousilahti, Amanda F. Elliott, Lachlan J. M. Coin, Parimal Deodhar, Kijoung Song, Ruth J. F. Loos, Eleanor Wheeler, George Davey Smith, Kate Northstone, Joshua C. Randall, Claudia Lamina, André G. Uitterlinden, Dawn M. Waterworth, Tim D. Spector, Robert Luben, Veikko Salomaa, Vincent Mooser, Candace Guiducci, Andrew T. Hattersley, Guillaume Lettre, Guangju Zhai, Gonçalo R. Abecasis, Jaana Laitinen, Cyrus Cooper, David J. Hunter, Noël P. Burtt, Timo T. Valle, Carolin Purmann, Narisu Narisu, Lori L. Bonnycastle, Steven A. McCarroll, Christian Gieger, Albert Hofman, Laura J. Scott, Iris M. Heid, Lu Qi, Kevin B. Jacobs, Toby Johnson, Cornelia M. van Duijn, David Altshuler, David Hadley, Marjo-Riitta Järvelin, Johannes Hebebrand, Stephen J. Chanock, Stephen O'Rahilly, Jaakko Tuomilehto, Cecilia M. Lindgren, Y. C. Loraine Tung, Panagiotis Deloukas, Manjinder S. Sandhu, H-Erich Wichmann, Antonella Mulas, Matthew G. Rees, Jack M. Guralnik, Elaine M. Dennison, Timothy M. Frayling, David P. Strachan, Jonathan Stephens, Inga Prokopenko, Mikko Kuokkanen, Shengxu Li, Leif Groop, Jing Hua Zhao, Paul Elliott, David Schlessinger, Ken K. Ong, Peter Almgren, Massimo Mangino, Manuela Uda, Zorica Jovanovic, Karen L. Mohlke, Leena Peltonen, Michael N. Weedon, Elizabeth K. Speliotes, Markku Laakso, Bo Isomaa, Serena Sanna, Mark J. Caulfield, Gérard Waeber, Martin Ridderstråle, Luigi Ferrucci, Anne U. Jackson, Suzanne Stevens, Aimo Ruokonen, Jacqueline C. M. Witteman, Nicole Soranzo, Kaisa Silander, Mark I. McCarthy, Joel N. Hirschhorn, Nilesh J. Samani, Frank B. Hu, Michael R. Erdos, Paul Scheet, Leonie C. Jacobs, Rosa Maria Roccasecca, Heather M. Stringham, Helen N. Lyon, Konstantinos A. Papadakis, Aki S. Havulinna, Michael Boehnke, Richard N. Bergman, Nicholas J. Wareham, M. Carola Zillikens, Nicholas A. Watkins, Tiinamaija Tuomi, Fernando Rivadeneira, Noha Lim, Edward G. Lakatta, Johanna Kuusisto

المصدر: Nature Genetics, vol. 41, no. 1, pp. 25-34
Nature Genetics
Nature genetics
Nature Genetics; Vol 41

مصطلحات موضوعية: Central Nervous System, medicine.medical_specialty, Quantitative Trait Loci, Medizin, Gene Dosage, 030209 endocrinology & metabolism, Genome-wide association study, Locus (genetics), Biology, FTO gene, Polymorphism, Single Nucleotide, Article, Body Mass Index, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Quantitative Trait, Heritable, SH2B1, Meta-Analysis as Topic, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Obesity, Alleles, 030304 developmental biology, 2. Zero hunger, 0303 health sciences, Neuronal growth regulator 1, Anthropometry, Genetics of obesity, Body Weight, 3. Good health, Endocrinology, Alpha-Ketoglutarate-Dependent Dioxygenase FTO, Genome-Wide Association Study, Colaus Study, Body mass index

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4365d9b679ccfa63e63cb3f9f61dd98a
https://doi.org/10.1038/ng.287

المؤلفون: Julia M. Keogh, Richard J. Ellis, Mehul T. Dattani, Robin G. Walters, Susan E. Holder, I. Sadaf Farooqi, Stephen O'Rahilly, Mieke M. van Haelst, Giles S.H. Yeo, U. L. Fairbrother, Carolin Purmann, Philippe Froguel, Angela F. Brady, Elana Henning, Adam J. de Smith, Alexandra I. F. Blakemore

المساهمون: University of Groningen, Other departments, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: de Smith, A J, Purmann, C, Walters, R G, Ellis, R J, Holder, S E, Van Haelst, M M, Brady, A F, Fairbrother, U L, Dattani, M, Keogh, J M, Henning, E, Yeo, G S H, O'Rahilly, S, Froguel, P, Farooqi, I S & Blakemore, A I F 2009, ' A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism ', Human Molecular Genetics, vol. 18, no. 17, pp. 3257-65 . https://doi.org/10.1093/hmg/ddp263
Human Molecular Genetics, 18(17), 3257-3265. Oxford University Press
Human molecular genetics, 18(17), 3257-3265. Oxford University Press
Human Molecular Genetics, 18(17), 3257-65. Oxford University Press

مصطلحات موضوعية: Male, Molecular Sequence Data, RECOMBINATION, DEFINE, Biology, Hyperphagia, Young Adult, Hypogonadotropic hypogonadism, Genetics, medicine, Humans, RNA, Small Nucleolar, Amino Acid Sequence, Obesity, BREAKPOINTS, Small nucleolar RNA, Molecular Biology, Genotyping, Gene, Genetics (clinical), Chromosomes, Human, Pair 15, Hypogonadism, Breakpoint, Chromosome, Chromosome Mapping, CLUSTER, General Medicine, Articles, medicine.disease, Phenotype, GENE, DEFICIENCY, PRADER-WILLI-SYNDROME, Sequence Alignment, Comparative genomic hybridization, ALU ELEMENTS

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b4d4c20d769a9864f3d0ebf935e51d5
https://doi.org/10.1093/hmg/ddp263

المؤلفون: Elaine Huang, Shining Ma, Wing Hung Wong, Siming Zhang, Thomas J. Ward, Joachim Hallmayer, Alexander E. Urban, Carolin Purmann, Reenal Pattni

المصدر: European Neuropsychopharmacology. 29:S1060

مصطلحات موضوعية: Pharmacology, Psychiatry and Mental health, Tissue culture, Molecular network, Neurology, Pharmacology (medical), Neurology (clinical), Computational biology, Biology, Biological Psychiatry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3aa650b6b5e8cad587f867143e45eddd
https://doi.org/10.1016/j.euroneuro.2018.07.080

المؤلفون: Ismaa, Farooqi, Elena Bochukova, No Value, Julia Keogh, No Value, Elana Henning, No Value, Carolin Purmann, No Value, Ni Huang, No Value, Kasia Blaszczyk, No Value, Sadia Saeed, No Value, Shield, JPH, Jill Clayton-Smith, No Value, Stephen O'Rahilly, No Value, Matthew, Hurles

المصدر: Ismaa , F , Elena Bochukova , N V , Julia Keogh , N V , Elana Henning , N V , Carolin Purmann , N V , Ni Huang , N V , Kasia Blaszczyk , N V , Sadia Saeed , N V , Shield , JPH , Jill Clayton-Smith , N V , Stephen O'Rahilly , N V & Matthew , H 2010 , ' Large rare chromosomal deletions associated with severe early onset obesity ' , Nature , vol. 463 , pp. 666-670 . https://doi.org/10.1038/nature08689

الاتاحة: https://hdl.handle.net/1983/81dd46fb-d54a-441a-8fee-317a0b989b31
https://research-information.bris.ac.uk/en/publications/81dd46fb-d54a-441a-8fee-317a0b989b31
https://doi.org/10.1038/nature08689
http://www.scopus.com/inward/record.url?eid=2-s2.0-76349083132&partnerID=8YFLogxK
http://www.nature.com/nature/journal/v463/n7281/full/nature08689.html

المؤلفون: Carolin Purmann, Alexander E. Urban

المصدر: Nature Genetics. 47:100-101

مصطلحات موضوعية: Pluripotent Stem Cells, Williams Syndrome, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, Genomics, Biology, humanities, Transcription Factors, TFII, Gene Expression Regulation, Gene duplication, Humans, cardiovascular diseases, Copy-number variation, Induced pluripotent stem cell, Transcription factor, Chromosomes, Human, Pair 7

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2f7cd93efc8a266f6ce159c591b713e
https://doi.org/10.1038/ng.3204

المؤلفون: Kasia Blaszczyk, Sadia Saeed, Elana Henning, Ni Huang, Jill Clayton-Smith, Carolin Purmann, Elena G. Bochukova, Julia M. Keogh, Stephen O'Rahilly, Julian Hamilton-Shield, I. Sadaf Farooqi, Matthew E. Hurles

المصدر: Nature. 463(7281)

مصطلحات موضوعية: medicine.medical_specialty, Heterozygote, DNA Copy Number Variations, Developmental Disabilities, Inheritance Patterns, Biology, Hyperphagia, Bioinformatics, Article, White People, Cohort Studies, Insulin resistance, SH2B1, Internal medicine, medicine, Humans, Copy-number variation, Obesity, Age of Onset, Child, Adaptor Proteins, Signal Transducing, Multidisciplinary, Genetic heterogeneity, Leptin, Cancer, medicine.disease, United Kingdom, Endocrinology, Mutation, Autism, Chromosome Deletion, Insulin Resistance, Chromosomes, Human, Pair 16, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c7c3ce1fd12c84887d61373a05d2fe1
https://pubmed.ncbi.nlm.nih.gov/20880123

المؤلفون: Carolin Purmann, Hong Hua Li, Claudia Fisch-Kohl, Birgitt Schüle, Uta Francke

المصدر: American journal of human genetics. 81(3)

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Somatic cell, Methyl-CpG-Binding Protein 2, Molecular Sequence Data, Kruppel-Like Transcription Factors, Gene Expression, Rett syndrome, Biology, Allelic Imbalance, Polymorphism, Single Nucleotide, Article, MECP2, Cell Line, Genomic Imprinting, Mice, mental disorders, Genetics, medicine, Rett Syndrome, Animals, Humans, Genetics(clinical), Imprinting (psychology), Genetics (clinical), Alleles, Aged, Cerebral Cortex, Homeodomain Proteins, Base Sequence, Proteins, RNA-Binding Proteins, DLX6, DLX5, Middle Aged, medicine.disease, Molecular biology, Phenotype, Mice, Mutant Strains, nervous system diseases, DNA-Binding Proteins, embryonic structures, Female, Genomic imprinting, Apoptosis Regulatory Proteins, Chromosomes, Human, Pair 7, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d7a1dae38b7c608f641fa1c980971a5
https://pubmed.ncbi.nlm.nih.gov/17701895

المؤلفون: Stephen O'Rahilly, Giles S.H. Yeo, Sadaf Farooqi, Carolin Purmann

المصدر: Mechanisms of Development. 126:S53-S54

مصطلحات موضوعية: Genetics, Embryology, Biology, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14fed69428e2089ab39c5590c62bcd83

المؤلفون: Elena G Bochukova, Ni Huang, Julia Keogh, Elana Henning, Carolin Purmann, Kasia Blaszczyk, Sadia Saeed, Julian Hamilton-Shield, Jill Clayton-Smith, Stephen O'rahilly, Matthew E Hurles, I Sadaf Farooqi

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://llama.mshri.on.ca/courses/Biophysics205/Papers/Bochukova_2009.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1051.8452; http://llama.mshri.on.ca/courses/Biophysics205/Papers/Bochukova_2009.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1051.8452
http://llama.mshri.on.ca/courses/Biophysics205/Papers/Bochukova_2009.pdf