(Q44936179)

7 December 2017

How much is too much? Phenotypic consequences of Rai1 overexpression in mice (English)

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7 December 2017

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6

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7 December 2017

Santhosh Girirajan

1

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7 December 2017

Nisha Patel

2

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7 December 2017

Rebecca E Slager

3

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7 December 2017

Mary E Tokarz

4

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7 December 2017

Maja Bucan

5

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7 December 2017

Sarah H Elsea

7

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7 December 2017

20 February 2008

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European Journal of Human Genetics

7 December 2017

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7 December 2017

16

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7 December 2017

8

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7 December 2017

941-954

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https://scigraph.springernature.com/pub.10.1038/ejhg.2008.21

7 December 2017

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cites work

17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Mutations in RAI1 associated with Smith-Magenis syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Interstitial deletion of (17)(p11.2p11.2) in nine patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Transcriptional activation modulated by homopolymeric glutamine and proline stretches

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Cloning of a retinoic acid-induced gene, GT1, in the embryonal carcinoma cell line P19: neuron-specific expression in the mouse brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

A proposed test battery and constellations of specific behavioral paradigms to investigate the behavioral phenotypes of transgenic and knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Comparison of chlordimeform and carbaryl using a functional observational battery.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

A comparison of the acute behavioral effects of alkylbenzenes using a functional observational battery in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Chondrodysplasia and neurological abnormalities in ATF-2-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Sensory ataxia and muscle spindle agenesis in mice lacking the transcription factor Egr3

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Social interaction and sensorimotor gating abnormalities in mice lacking Dvl1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Sterol regulatory element-binding proteins (SREBPs): transcriptional regulators of lipid synthetic genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

BAC-mediated gene-dosage analysis reveals a role for Zipro1 (Ru49/Zfp38) in progenitor cell proliferation in cerebellum and skin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Understanding the basis for Down syndrome phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Genetic dissection of neuronal pathways controlling energy homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

A targeted mutation of the D3 dopamine receptor gene is associated with hyperactivity in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Connexin30-deficient mice show increased emotionality and decreased rearing activity in the open-field along with neurochemical changes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Neuromotor alterations and cerebellar deficits in aged arylsulfatase A-deficient transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Development of motor deficits in a murine model of mucopolysaccharidosis type IIIA (MPS-IIIA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Motor dysfunction in a mouse model for Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Profound ataxia in complexin I knockout mice masks a complex phenotype that includes exploratory and habituation deficits

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Animal models of osteoarthritis: lessons learned while seeking the "Holy Grail".

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Expanding our understanding of polyglutamine diseases through mouse models

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

In vivo response to high-resolution variation of Tbx1 mRNA dosage

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

7 January 2021

The PHD finger: implications for chromatin-mediated transcriptional regulation

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

7 January 2021

Comprehensive observational assessment: Ia. A systematic, quantitative procedure for assessing the behavioral and physiologic state of the mouse

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

7 January 2021

Real-time quantitative PCR-based system for determining transgene copy number in transgenic animals.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

7 January 2021

Locomotor activity in D2 dopamine receptor-deficient mice is determined by gene dosage, genetic background, and developmental adaptations

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

7 January 2021

The cerebellum: movement coordinator or much more?

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

7 January 2021

CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.21

7 January 2021

Identifiers

DOI

10.1038/EJHG.2008.21

1 reference

Dimensions Publication ID

7 December 2017

1033444626

0 references

Fatcat ID

release_62qh5xv7w5ddrpdob542pjf434

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/62qh5xv7w5ddrpdob542pjf434

24 November 2022

mapped directly with Wikidata item

1 reference