(Q24320361)

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

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

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circadian rhythm

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Retinoic acid induced 1

1 reference

GOA release 2020-03-11

positive regulation of transcription, DNA-templated

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GOA release 2020-03-11

Retinoic acid induced 1

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GOA release 2020-03-11

Smith-Magenis syndrome

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based on heuristic

inferred from title

Stephen R Williams

object named as

Stephen R Williams

1

author given names

Stephen R

author last names

Williams

1 reference

PubMed publication ID

20 October 2023

author name string

Deborah Zies

2

author given names

Deborah

author last names

Zies

1 reference

PubMed publication ID

20 October 2023

Sureni V Mullegama

3

author given names

Sureni V

author last names

Mullegama

1 reference

PubMed publication ID

20 October 2023

Michael S Grotewiel

4

author given names

Michael S

author last names

Grotewiel

1 reference

PubMed publication ID

20 October 2023

Sarah H Elsea

5

author given names

Sarah H

author last names

Elsea

1 reference

PubMed publication ID

20 October 2023

language of work or name

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publication date

8 June 2012

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American Journal of Human Genetics

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90

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6

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941-9

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Histone lysine demethylase JARID1a activates CLOCK-BMAL1 and influences the circadian clock

1 reference

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19 March 2017

A genome-wide RNAi screen for modifiers of the circadian clock in human cells

1 reference

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19 March 2017

Nucleosome-binding affinity as a primary determinant of the nuclear mobility of the pioneer transcription factor FoxA

1 reference

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19 March 2017

Obesity and metabolic syndrome in circadian Clock mutant mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

19 March 2017

Beta 1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

19 March 2017

Direct regulation of CLOCK expression by REV-ERB.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

19 March 2017

Smith-Magenis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

19 March 2017

Inverted rhythm of melatonin secretion in Smith-Magenis syndrome: from symptoms to treatment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

19 March 2017

The genetics of mammalian circadian order and disorder: implications for physiology and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

7 April 2017

Chloride intracellular channels modulate acute ethanol behaviors in Drosophila, Caenorhabditis elegans and mice.

1 reference

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27 September 2017

Circadian rhythms, sleep, and metabolism

1 reference

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27 September 2017

Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways

1 reference

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27 September 2017

Circadian rhythms and clock genes in psychotic disorders

1 reference

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27 September 2017

Disruption of the circadian timing systems: molecular mechanisms in mood disorders

1 reference

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27 September 2017

A large-scale functional RNAi screen reveals a role for CK2 in the mammalian circadian clock.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

27 September 2017

A functional network module for Smith-Magenis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

27 September 2017

A high-throughput assay for siRNA-based circadian screens in human U2OS cells

1 reference

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27 September 2017

A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2

1 reference

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27 September 2017

New developments in Smith-Magenis syndrome (del 17p11.2).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

27 September 2017

Circadian rhythm disorder in a rare disease: Smith-Magenis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

27 September 2017

DNA microarray time series analysis: automated statistical assessment of circadian rhythms in gene expression patterning

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

27 September 2017

Nonredundant roles of the mPer1 and mPer2 genes in the mammalian circadian clock

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

27 September 2017

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

27 September 2017

Transformation of human cystinotic fibroblasts by SV40: Characteristics of transformed cells with limited and unlimited growth potential

1 reference

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27 September 2017

Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

30 May 2018

Alteration of the circadian clock in children with Smith-Magenis syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

29 November 2018

Identification of two independent nucleosome-binding domains in the transcriptional co-activator SPBP

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

29 November 2018

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

1 reference

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29 November 2018

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

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29 November 2018

Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice

1 reference

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29 November 2018

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29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

29 November 2018

Inversion of the circadian melatonin rhythm in Smith-Magenis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

29 November 2018

Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370274

29 November 2018

Melatonin content of the pineal gland in different mouse strains

1 reference

https://pubmed.ncbi.nlm.nih.gov/22578325

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22578325

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2012.04.013

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

release_yxmeic5u3nebvkgddujxt52rjq

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OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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