Inappropriate p53 activation during development induces features of CHARGE syndrome (Q34315506)

1 August 2017

title

Inappropriate p53 activation during development induces features of CHARGE syndrome (English)

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1 August 2017

12

Tania Attié-Bitach

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Daniel R Fuentes

object named as

Daniel R Fuentes

4

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Jeanine L Van Nostrand

object named as

Jeanine L Van Nostrand

1

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author name string

Colleen A Brady

2

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1 August 2017

Heiyoun Jung

3

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1 August 2017

Margaret M Kozak

5

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1 August 2017

Thomas M Johnson

6

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1 August 2017

Chieh-Yu Lin

7

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1 August 2017

Chien-Jung Lin

8

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1 August 2017

Donald L Swiderski

9

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1 August 2017

Hannes Vogel

10

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1 August 2017

Jonathan A Bernstein

11

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1 August 2017

Ching-Pin Chang

13

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1 August 2017

Joanna Wysocka

14

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1 August 2017

Donna M Martin

15

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1 August 2017

Laura D Attardi

16

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1 August 2017

language of work or name

English

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publication date

3 August 2014

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full work available at URL

1 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4192026

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published in

Nature

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1 August 2017

volume

514

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1 August 2017

issue

7521

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1 August 2017

page(s)

228-232

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Knockdown of fbxl10/kdm2bb rescues chd7 morphant phenotype in a zebrafish model of CHARGE syndrome

1 August 2017

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More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

6 July 2018

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Global genomic profiling reveals an extensive p53-regulated autophagy program contributing to key p53 responses

6 July 2018

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Distinct p53 transcriptional programs dictate acute DNA-damage responses and tumor suppression

6 July 2018

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The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear.

6 July 2018

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CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expression

6 July 2018

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Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome

6 July 2018

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CHD7 cooperates with PBAF to control multipotent neural crest formation

6 July 2018

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Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.

6 July 2018

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Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues.

6 July 2018

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Absent semicircular canals in CHARGE syndrome: radiologic spectrum of findings.

6 July 2018

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6 July 2018

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Osteoblast differentiation and skeletal development are regulated by Mdm2-p53 signaling

6 July 2018

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Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation

6 July 2018

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Tumor suppression and normal aging in mice with constitutively high p53 activity

6 July 2018

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Multiple mutations in mouse Chd7 provide models for CHARGE syndrome

6 July 2018

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Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

6 July 2018

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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

6 July 2018

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mdm2 Is critical for inhibition of p53 during lymphopoiesis and the response to ionizing irradiation

6 July 2018

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p53 mutant mice that display early ageing-associated phenotypes

6 July 2018

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Epitope analysis of the murine p53 tumour suppressor protein

6 July 2018

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A cre-transgenic mouse strain for the ubiquitous deletion of loxP-flanked gene segments including deletion in germ cells

6 July 2018

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Rescue of early embryonic lethality in mdm2-deficient mice by deletion of p53

6 July 2018

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The spectrum of clinical features in CHARGE syndrome.

6 July 2018

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The p53QS transactivation-deficient mutant shows stress-specific apoptotic activity and induces embryonic lethality

6 July 2018

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The cardiac phenotype in patients with a CHD7 mutation.

21 January 2018

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p53 coordinates cranial neural crest cell growth and epithelial-mesenchymal transition/delamination processes.

21 January 2018

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High-frequency developmental abnormalities in p53-deficient mice.

21 January 2018

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Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.

21 January 2018

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Algorithm for prediction of tumour suppressor p53 affinity for binding sites in DNA.

21 January 2018

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Alcian blue/alizarin red staining of cartilage and bone in mouse.

21 January 2018

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Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies

28 October 2018

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Genitourinary anomalies in the CHARGE association

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25119037

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25119037

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Defects in vestibular sensory epithelia and innervation in mice with loss ofChd7 function: Implications for human CHARGE syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25119037

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NATURE13585

1 reference

1 August 2017

1 reference

1 August 2017

1 reference