(Q86848041)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703963%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

title

Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703963%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

main subject

Smith-Magenis syndrome

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3

James R Lupski

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703963%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

author name string

Melanie Lacaria

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703963%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Wenli Gu

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703963%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

publication date

23 May 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703963%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

1 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703963%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

volume

161A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703963%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703963%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

page(s)

1561-1568

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703963%20AND%20SRC:MED&resulttype=core&format=json

Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome

1 March 2020

cites work

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12 December 2020

The molecular gatekeeper Dexras1 sculpts the photic responsiveness of the mammalian circadian clock.

1 reference

12 December 2020

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

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12 December 2020

Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome

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12 December 2020

beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome

1 reference

12 December 2020

1 reference

12 December 2020

Mouse dexamethasone-induced RAS protein 1 gene is expressed in a circadian rhythmic manner in the suprachiasmatic nucleus.

1 reference

12 December 2020

Mutations in RAI1 associated with Smith-Magenis syndrome.

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12 December 2020

Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2).

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12 December 2020

Dexras1 potentiates photic and suppresses nonphotic responses of the circadian clock

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12 December 2020

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

1 reference

12 December 2020

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

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12 December 2020

Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2).

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

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12 December 2020

Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome

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12 December 2020

Retinoic acid signaling affects cortical synchrony during sleep.

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12 December 2020

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions

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12 December 2020

Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).

1 reference

12 December 2020

Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike

1 reference

12 December 2020

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

1 reference

12 December 2020

Non-photic phase resetting of Dexras1 deficient mice: a more complicated story

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12 December 2020

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.

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12 December 2020

Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.

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12 December 2020

Appearances can be deceiving: phenotypes of knockout mice.

1 reference

12 December 2020

Gonadectomy reveals sex differences in circadian rhythms and suprachiasmatic nucleus androgen receptors in mice

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12 December 2020

Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion.

1 reference

12 December 2020

Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome

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12 December 2020

Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations

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12 December 2020

Clan genomics and the complex architecture of human disease

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12 December 2020

A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men

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12 December 2020

Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity

1 reference

12 December 2020

Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits

1 reference

12 December 2020

Smith-Magenis syndrome: a case report of improved sleep after treatment with beta1-adrenergic antagonists and melatonin.

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12 December 2020

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

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12 December 2020

Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).

1 reference

12 December 2020

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

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12 December 2020

Identifiers

DOI

10.1002/AJMG.A.35941

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703963%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23703963%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

PubMed publication ID

23703963

1 reference