المؤلفون: Sameer S Bajikar, Ashley G Anderson, Jian Zhou, Mark A Durham, Alexander J Trostle, Ying-Wooi Wan, Zhandong Liu, Huda Y Zoghbi

المصدر: eLife, Vol 12 (2023)

مصطلحات موضوعية: growth differentiation factor 11, Methyl CpG Binding Protein 2, MECP2 duplication syndrome, GDF11, MeCP2, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/83806Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/6b82cfcf999546bdac0e75edf2ab2c99Test

المؤلفون: Laura A Lavery, Kerstin Ure, Ying-Wooi Wan, Chongyuan Luo, Alexander J Trostle, Wei Wang, Haijing Jin, Joanna Lopez, Jacinta Lucero, Mark A Durham, Rosa Castanon, Joseph R Nery, Zhandong Liu, Margaret Goodell, Joseph R Ecker, M Margarita Behrens, Huda Y Zoghbi

المصدر: eLife, Vol 9 (2020)

مصطلحات موضوعية: non-CpG methylation, Dnmt3a, MeCP2, inhibitory neuron, Rett syndrome, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/52981Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/b078fc09c47f4ff18e2e3557478a806dTest

المؤلفون: Jacinta Lucero, Joseph R. Ecker, M. Margarita Behrens, Chongyuan Luo, Margaret A. Goodell, Alexander J. Trostle, Kerstin Ure, Joseph R. Nery, Huda Y. Zoghbi, Rosa Castanon, Zhandong Liu, Haijing Jin, Joanna Lopez, Ying-Wooi Wan, Wei Wang, Mark A Durham, Laura A. Lavery

المصدر: eLife
eLife, Vol 9 (2020)

مصطلحات موضوعية: 0301 basic medicine, Male, Mouse, Methyl-CpG-Binding Protein 2, Dnmt3a, DNA Methyltransferase 3A, Mice, 0302 clinical medicine, Rett syndrome, Gene expression, inhibitory neuron, DNA (Cytosine-5-)-Methyltransferases, Biology (General), GABAergic Neurons, Regulation of gene expression, General Neuroscience, Gene Expression Regulation, Developmental, General Medicine, Methylation, respiratory system, Chromosomes and Gene Expression, embryonic structures, GABAergic, Medicine, Female, hormones, hormone substitutes, and hormone antagonists, Research Article, congenital, hereditary, and neonatal diseases and abnormalities, QH301-705.5, Science, Biology, General Biochemistry, Genetics and Molecular Biology, MECP2, 03 medical and health sciences, medicine, Animals, Genetic Predisposition to Disease, Epigenetics, Gene, MeCP2, General Immunology and Microbiology, medicine.disease, nervous system diseases, 030104 developmental biology, Neuroscience, 030217 neurology & neurosurgery, non-CpG methylation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36f0d038ef82af667f7c01e2661b6865Test
http://europepmc.org/articles/PMC7065908Test

المؤلفون: Alexander J. Trostle, Joseph R. Ecker, Laura A. Lavery, Wei Wang, Joseph R. Nery, Jacinta Lucero, Rosa Castanon, Zhandong Liu, Haijing Jin, Huda Y. Zoghbi, Chongyuan Luo, Ying-Wooi Wan, Margaret A. Goodell, Joanna Lopez, M. Margarita Behrens, Kerstin Ure, Mark A Durham

مصطلحات موضوعية: Mechanism (biology), Chemistry, Neural function, medicine, Rett syndrome, Methylation, Inhibitory postsynaptic potential, medicine.disease, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2a2411cb8fba6e96a9d4fdbabb5277ddTest
https://doi.org/10.7554/elife.52981.sa2Test

المؤلفون: Jacinta Lucero, Alexander J. Trostle, Laura A. Lavery, Kerstin Ure, Chongyuan Luo, Margaret A. Goodell, Joseph R. Ecker, Mark A Durham, Wei Wang, Joanna Lopez, Joseph R. Nery, Rosa Castanon, Zhandong Liu, Ying-Wooi Wan, Huda Y. Zoghbi, M. Margarita Behrens

مصطلحات موضوعية: Regulation of gene expression, 0303 health sciences, congenital, hereditary, and neonatal diseases and abnormalities, Rett syndrome, Methylation, Biology, respiratory system, medicine.disease, DNA methyltransferase, MECP2, Cell biology, nervous system diseases, 03 medical and health sciences, 0302 clinical medicine, embryonic structures, medicine, GABAergic, Epigenetics, Gene, 030217 neurology & neurosurgery, 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a18e9faae4693e5a218c79e8e8114f09Test

المؤلفون: Ethan D. Sperry, Elyse N. Reamer, Adam B. Stein, Mark A. Durham, Donna M. Martin, Elizabeth A. Hurd

المصدر: Developmental Dynamics. 243:1055-1066

مصطلحات موضوعية: Mice, Knockout, Pharyngeal pouch, Gene Expression Regulation, Developmental, Neural crest, Anatomy, Biology, medicine.disease, Article, Hypoplasia, Craniofacial Abnormalities, DNA-Binding Proteins, Trachea, Mice, CHARGE syndrome, Frontal bone, Dysplasia, embryonic structures, Conditional gene knockout, medicine, Animals, Abnormalities, Multiple, CHARGE Syndrome, Craniofacial, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08120313770d924a9d87815a47106607Test
https://doi.org/10.1002/dvdy.24156Test

المؤلفون: Ethan D. Sperry, Peter C. Scacheri, Sophia F. Frank, Wanda S. Layman, Jennifer M. Skidmore, Yehoash Raphael, Joseph A. Micucci, Donald L. Swiderski, Donna M. Martin, Mark A. Durham, Elizabeth A. Hurd

المصدر: Human Molecular Genetics. 23:434-448

مصطلحات موضوعية: Neurogenesis, Retinoic acid, Subventricular zone, Tretinoin, Biology, Cerebral Ventricles, Mice, chemistry.chemical_compound, CHARGE syndrome, Neural Stem Cells, Genetics, medicine, Animals, Humans, Inner ear, Stem Cell Niche, Molecular Biology, Genetics (clinical), Mice, Knockout, Brain, Articles, General Medicine, medicine.disease, Olfactory Bulb, Neural stem cell, Cell biology, Olfactory bulb, DNA-Binding Proteins, Disease Models, Animal, medicine.anatomical_structure, chemistry, Ear, Inner, Mutation, Immunology, CHARGE Syndrome, Neural development, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57591c879b96462b2e230bd353d3e010Test
https://doi.org/10.1093/hmg/ddt435Test

المؤلفون: Yongsheng Bai, Amol C. Shetty, Jennifer M. Skidmore, James D. Cavalcoli, Kajari Mondal, Julie B Kaplan, Anthony Antonellis, Charles E. Schwartz, Mark A. Durham, Jun Li, Jirair K. Bedoyan, Cindy Skinner, Valerie M. Schaibley, Donna M. Martin, Michael E. Zwick, Arti Dhiraaj, Joseph A. Micucci, Weiping Peng

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: Male, DNA Mutational Analysis, Xenopus, GTPase, medicine.disease_cause, genome-wide, Mice, 0302 clinical medicine, Chlorocebus aethiops, Missense mutation, guidelines, Zebrafish, Genetics (clinical), Genetics, 0303 health sciences, Mutation, Massive parallel sequencing, Developmental Defects, Genetic Diseases, X-Linked, Syndrome, Pedigree, Organ Specificity, COS Cells, Female, medicine.symptom, microarray, Adult, Primates, genetic epidemiology, Blotting, Western, Green Fluorescent Proteins, Molecular Sequence Data, Mutation, Missense, Biology, Short stature, Mitochondrial Proteins, complex traits, 03 medical and health sciences, Fetus, copy-number, medicine, Animals, Humans, developmental, chromosomal, Gene, 030304 developmental biology, Base Sequence, epigenetics, academic medicine, Sequence Analysis, DNA, biology.organism_classification, Spectrometry, Fluorescence, molecular genetics, ras Proteins, clinical genetics, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47ecb6666e066bf3ceddce20b0c2279fTest
https://doi.org/10.1136/jmedgenet-2011-100575Test

المؤلفون: Bradley R. Foerster, Donna M. Martin, Andrea H. Seeley, Mark Micale, Mark A. Durham, Jeffrey R. Wesolowski

مصطلحات موضوعية: Cerebellum, Biology, Article, Epilepsy, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Gene, Genetics (clinical), Genetic Association Studies, In Situ Hybridization, Fluorescence, Microarray analysis techniques, Dysautonomia, Chromosome, Chromosome Mapping, medicine.disease, Phenotype, Magnetic Resonance Imaging, medicine.anatomical_structure, Child, Preschool, Female, medicine.symptom, Chromosome Deletion, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b220dabceff8a695dc098232e5cb92a3Test
https://europepmc.org/articles/PMC4266592Test/