Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome. - Wikidata - wikimedia - TriplyDB

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.

http://www.wikidata.org/entity/Q34509186

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Clinical uses of melatonin in pediatrics Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype Melatonin Treatment in Children with Developmental Disabilities Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum Smith-Magenis syndrome beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome COP9 signalosome subunit 3 is essential for maintenance of cell proliferation in the mouse embryonic epiblast When clocks go bad: neurobehavioural consequences of disrupted circadian timing.Dual regulation of dendritic morphogenesis in Drosophila by the COP9 signalosome.COP9 limits dendritic branching via Cullin3-dependent degradation of the actin-crosslinking BTB-domain protein Kelch.Sleep in Neurodevelopmental Disorders.Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome Role of individual subunits of the Neurospora crassa CSN complex in regulation of deneddylation and stability of cullin proteins.Rai1 frees mice from the repression of active wake behaviors by light.The COP9 signalosome regulates the Neurospora circadian clock by controlling the stability of the SCFFWD-1 complex Pharmacological treatment of disruptive behavior in Smith-Magenis syndrome.Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.Behavioral disturbance and treatment strategies in Smith-Magenis syndrome Learning to live on a Mars day: fatigue countermeasures during the Phoenix Mars Lander mission.Melatonin synthesis in the human pineal gland: advantages, implications, and difficulties.New approaches in the management of insomnia: weighing the advantages of prolonged-release melatonin and synthetic melatoninergic agonists.Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.Neurodevelopment of children under 3 years of age with Smith-Magenis syndrome Investigational melatonin receptor agonists.Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.Co-morbidity of complex genetic disorders and hypersomnias of central origin: lessons from the underlying neurobiology of wake and sleep.Melatonin effects on bone: potential use for the prevention and treatment for osteopenia, osteoporosis, and periodontal disease and for use in bone-grafting procedures.Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions.Sleep Complaints and the 24-h Melatonin Level in Individuals with Smith-Magenis Syndrome: Assessment for Effective Intervention.Yin-yang actions of histone methylation regulatory complexes in the brain.First Case Report of Smith-Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview The circadian system of patients with bipolar disorder differs in episodes of mania and depression.Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.A randomized, placebo-controlled trial of controlled release melatonin treatment of delayed sleep phase syndrome and impaired sleep maintenance in children with neurodevelopmental disabilities.Impairment of the melatonin rhythm in children with Sanfilippo syndrome.Effects on bone by the light/dark cycle and chronic treatment with melatonin and/or hormone replacement therapy in intact female mice.

P2860

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P2860

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.

http://www.wikidata.org/entity/Q34509186

description

2000 nî lūn-bûn

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2000 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2000 թվականի հունիսին հրատարակված գիտական հոդված

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2000年の論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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2000年论文

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name

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.

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Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.

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Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.

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type

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Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.

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Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.

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Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.

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Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.

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Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.

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Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.

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Journal of Medical Genetics

P1476

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.

@en

P2093

C D Kashork

http://www.w3.org/2001/XMLSchema#string

D Glaze

http://www.w3.org/2001/XMLSchema#string

D X Tan

http://www.w3.org/2001/XMLSchema#string

J R Lupski

http://www.w3.org/2001/XMLSchema#string

L G Shaffer

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L Potocki

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R J Reiter

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S S Park

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P2860

Pineal Melatonin: Cell Biology of Its Synthesis and of Its Physiological Interactions*

The COP9 complex, a novel multisubunit nuclear regulator involved in light control of a plant developmental switch

The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients

The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2

Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the smith-magenis syndrome critical region in 17p11.2

The COP9 complex is conserved between plants and mammals and is related to the 26S proteasome regulatory complex

Melatonin in humans

Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179.

Complex effects of melatonin: evidence for photoperiodic responses in humans?

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.

P304

428-433

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scholarly article

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10.1136/JMG.37.6.428

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P433

6

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37

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2000-06-01T00:00:00Z

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12467809

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10851253

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P921

circadian rhythm

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1734604

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