Molecular and Neural Functions of Rai1, the Causal Gene for Smith-Magenis Syndrome
暂无分享,去创建一个
Howard Y. Chang | L. Luo | O. Gozani | M. Shamloo | C. J. Guenthner | Wei-Hsiang Huang | Alex W. Wilkinson | L. Schwarz | Jin Xu | Tiffany M. Nguyen
[1] L. Vallée,et al. Smith-Magenis syndrome , 2019, Definitions.
[2] Baoji Xu,et al. Neurotrophic factor control of satiety and body weight , 2016, Nature Reviews Neuroscience.
[3] B. Barak,et al. Neurobiology of social behavior abnormalities in autism and Williams syndrome , 2016, Nature Neuroscience.
[4] G. Fishell,et al. Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops , 2016, Neuron.
[5] H. Zoghbi,et al. Loss of MeCP2 in Parvalbumin-and Somatostatin-Expressing Neurons in Mice Leads to Distinct Rett Syndrome-like Phenotypes , 2015, Neuron.
[6] Andreas Lüthi,et al. Disinhibition, a Circuit Mechanism for Associative Learning and Memory , 2015, Neuron.
[7] Michael M. Halassa,et al. Thalamic reticular impairment underlies attention deficit in Ptchd1Y/− mice , 2015, Nature.
[8] Guoping Feng,et al. Modeling psychiatric disorders for developing effective treatments , 2015, Nature Medicine.
[9] G. Liao,et al. Discrete BDNF Neurons in the Paraventricular Hypothalamus Control Feeding and Energy Expenditure. , 2015, Cell metabolism.
[10] R. Kooy,et al. The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders , 2015, Neuron.
[11] A. Lüthi,et al. Neuronal circuits for fear and anxiety , 2015, Nature Reviews Neuroscience.
[12] W. Huber,et al. Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2 , 2014, Genome Biology.
[13] Liqun Luo,et al. Presynaptic Partners of Dorsal Raphe Serotonergic and GABAergic Neurons , 2014, Neuron.
[14] Eric Nestler,et al. ngs.plot: Quick mining and visualization of next-generation sequencing data by integrating genomic databases , 2014, BMC Genomics.
[15] W. Colmers. Faculty Opinions recommendation of An excitatory paraventricular nucleus to AgRP neuron circuit that drives hunger. , 2014 .
[16] C. Barthélémy,et al. Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions , 2014, Molecular Syndromology.
[17] Benjamin R. Arenkiel,et al. Glutamate mediates the function of melanocortin receptor 4 on Sim1 neurons in body weight regulation. , 2013, Cell metabolism.
[18] T. Johansen,et al. A Phylogenetic Study of SPBP and RAI1: Evolutionary Conservation of Chromatin Binding Modules , 2013, PloS one.
[19] A. White,et al. Metabolic pitfalls of CNS Cre-based technology. , 2013, Cell metabolism.
[20] J. Lupski,et al. Circadian abnormalities in mouse models of smith–magenis syndrome: Evidence for involvement of RAI1 , 2013, American journal of medical genetics. Part A.
[21] L. Luo,et al. Permanent Genetic Access to Transiently Active Neurons via TRAP: Targeted Recombination in Active Populations , 2013, Neuron.
[22] Bernardo L. Sabatini,et al. Excitatory/Inhibitory Synaptic Imbalance Leads to Hippocampal Hyperexcitability in Mouse Models of Tuberous Sclerosis , 2013, Neuron.
[23] E. Colman,et al. The FDA's assessment of two drugs for chronic weight management. , 2012, The New England journal of medicine.
[24] Cary Fu,et al. GABAergic interneuron development and function is modulated by the Tsc1 gene. , 2012, Cerebral cortex.
[25] N. Friedman,et al. Systematic Dissection of Roles for Chromatin Regulators in a Yeast Stress Response , 2012, PLoS biology.
[26] Stephen R. Williams,et al. Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity. , 2012, American journal of human genetics.
[27] J. Lupski,et al. A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men , 2012, PLoS genetics.
[28] J. Sebat,et al. CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics , 2012, Cell.
[29] Steven L Salzberg,et al. Fast gapped-read alignment with Bowtie 2 , 2012, Nature Methods.
[30] Mark F Bear,et al. Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. , 2012, Cold Spring Harbor perspectives in biology.
[31] T. Johansen,et al. Identification of two independent nucleosome-binding domains in the transcriptional co-activator SPBP. , 2012, The Biochemical journal.
[32] Manolis Kellis,et al. ChromHMM: automating chromatin-state discovery and characterization , 2012, Nature Methods.
[33] S. Nelson,et al. A Resource of Cre Driver Lines for Genetic Targeting of GABAergic Neurons in Cerebral Cortex , 2011, Neuron.
[34] Linh Vong,et al. Leptin Action on GABAergic Neurons Prevents Obesity and Reduces Inhibitory Tone to POMC Neurons , 2011, Neuron.
[35] Marcel Martin. Cutadapt removes adapter sequences from high-throughput sequencing reads , 2011 .
[36] Stephen R. Williams,et al. Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome. , 2010, Human molecular genetics.
[37] C. Glass,et al. Simple combinations of lineage-determining transcription factors prime cis-regulatory elements required for macrophage and B cell identities. , 2010, Molecular cell.
[38] N. Tommerup,et al. A Functional Link between the Histone Demethylase PHF8 and the Transcription Factor ZNF711 in X-Linked Mental Retardation , 2010, Molecular cell.
[39] J. Lupski,et al. Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. , 2010, American journal of human genetics.
[40] M. Hurles,et al. Copy number variation in human health, disease, and evolution. , 2009, Annual review of genomics and human genetics.
[41] Andrew Menzies,et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation , 2009, Nature Genetics.
[42] H. Zoghbi,et al. Failure of neuronal homeostasis results in common neuropsychiatric phenotypes , 2008, Nature.
[43] N. D. Clarke,et al. Integration of External Signaling Pathways with the Core Transcriptional Network in Embryonic Stem Cells , 2008, Cell.
[44] M. Bucan,et al. How much is too much? Phenotypic consequences of Rai1 overexpression in mice , 2008, European Journal of Human Genetics.
[45] J. Lupski,et al. Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes. , 2007, Human molecular genetics.
[46] J. Lupski,et al. Gender, genotype, and phenotype differences in Smith–Magenis syndrome: a meta‐analysis of 105 cases , 2007, Clinical genetics.
[47] B. Lowell,et al. Synaptic glutamate release by ventromedial hypothalamic neurons is part of the neurocircuitry that prevents hypoglycemia. , 2007, Cell metabolism.
[48] Lorraine Potocki,et al. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. , 2007, American journal of human genetics.
[49] Robert A. McGovern,et al. Leptin Directly Activates SF1 Neurons in the VMH, and This Action by Leptin Is Required for Normal Body-Weight Homeostasis , 2006, Neuron.
[50] Robert A. McGovern,et al. Divergence of Melanocortin Pathways in the Control of Food Intake and Energy Expenditure , 2005, Cell.
[51] J. Lupski,et al. Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. , 2005, Human molecular genetics.
[52] M. Sofroniew,et al. GFAP-expressing progenitors are the principal source of constitutive neurogenesis in adult mouse forebrain , 2004, Nature Neuroscience.
[53] C. Vlangos,et al. Mutations in RAI1 associated with Smith–Magenis syndrome , 2003, Nature Genetics.
[54] H. Onda,et al. Astrocyte‐specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures , 2002, Annals of neurology.
[55] Luis Puelles,et al. Cortical Excitatory Neurons and Glia, But Not GABAergic Neurons, Are Produced in the Emx1-Expressing Lineage , 2002, The Journal of Neuroscience.
[56] J. Lupski,et al. Hypercholesterolemia in children with Smith-Magenis syndrome: del (17)(p11.2p11.2) , 2002, Genetics in Medicine.
[57] L. Parada,et al. BDNF regulates eating behavior and locomotor activity in mice , 2000, The EMBO journal.
[58] O. Kretz,et al. Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety , 1999, Nature Genetics.
[59] L. Tecott,et al. Leptin-independent hyperphagia and type 2 diabetes in mice with a mutated serotonin 5-HT2C receptor gene , 1998, Nature Medicine.
[60] B. Finucane,et al. Smith-Magenis syndrome. , 1997, Ophthalmology.
[61] C McCluggage,et al. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2) , 1996, American journal of medical genetics.
[62] David Julius,et al. Eating disorder and epilepsy in mice lacking 5-HT2C serotonin receptors , 1995, Nature.
[63] J. Opitz,et al. Interstitial deletion of (17)(p11.2p11.2) in nine patients. , 1986, American journal of medical genetics.
[64] W. R. Ingram. THE HYPOTHALAMUS , 1938, Ciba clinical symposia.
[65] Ira M. Hall,et al. BEDTools: a flexible suite of utilities for comparing genomic features , 2010, Bioinform..
[66] Brad T. Sherman,et al. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources , 2008, Nature Protocols.
[67] L. Shaffer,et al. Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion , 2000, Nature Genetics.