(Q48246014)

9 February 2018

http://europepmc.org/abstract/MED/25501393

title

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages (English)

1 reference

9 February 2018

http://europepmc.org/abstract/MED/25501393

1 reference

12

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11 June 2020

Antonio Adamo

1

1 reference

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11 June 2020

Sina Atashpaz

2

1 reference

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11 June 2020

Pierre-Luc Germain

3

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11 June 2020

Matteo Zanella

4

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11 June 2020

Lucia Micale

8

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11 June 2020

Carmela Fusco

9

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11 June 2020

Christian Unger

10

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11 June 2020

Massimo Carella

14

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11 June 2020

Giuseppe Merla

21

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11 June 2020

Giuseppe Testa

22

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11 June 2020

author name string

Giuseppe D'Agostino

5

1 reference

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11 June 2020

Veronica Albertin

6

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11 June 2020

Josh Chenoweth

7

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11 June 2020

Bartolomeo Augello

11

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11 June 2020

Brad Hamilton

13

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11 June 2020

Emilio Donti

15

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11 June 2020

Giancarlo Pruneri

16

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11 June 2020

Angelo Selicorni

17

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11 June 2020

Elisa Biamino

18

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11 June 2020

Paolo Prontera

19

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11 June 2020

Ronald McKay

20

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11 June 2020

language of work or name

English

0 references

publication date

15 December 2014

1 reference

9 February 2018

http://europepmc.org/abstract/MED/25501393

published in

Nature Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25501393%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25501393%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25501393%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

page(s)

132-141

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25501393%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ng.3169

11 June 2020

exact match

0 references

cites work

Origins and implications of pluripotent stem cell variability and heterogeneity

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Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

21 January 2018

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Severe expressive-language delay related to duplication of the Williams-Beuren locus

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21 January 2018

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21 January 2018

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Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome

21 January 2018

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Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

21 January 2018

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Brief report: functional MRI of a patient with 7q11.23 duplication syndrome and autism spectrum disorder.

21 January 2018

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Highly efficient reprogramming to pluripotency and directed differentiation of human cells with synthetic modified mRNA.

21 January 2018

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Induction of pluripotent stem cells from adult human fibroblasts by defined factors

21 January 2018

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Genomic instability in induced stem cells

21 January 2018

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Induced pluripotent stem cell modeling of multisystemic, hereditary transthyretin amyloidosis.

21 January 2018

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Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells

21 January 2018

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Abnormalities in human pluripotent cells due to reprogramming mechanisms

21 January 2018

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Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.

21 January 2018

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An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

21 January 2018

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Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23

21 January 2018

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Williams-Beuren syndrome-associated transcription factor TFII-I regulates osteogenic marker genes

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Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders.

21 January 2018

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21 January 2018

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The pattern of sensory processing abnormalities in autism.

21 January 2018

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Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome

21 January 2018

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Parent-of-origin effects of FAS and PDLIM1 in attention-deficit/hyperactivity disorder

21 January 2018

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Characterization of CLP36/Elfin/PDLIM1 in the nervous system.

21 January 2018

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Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)

21 January 2018

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Transcriptome profile in Williams-Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits.

21 January 2018

1 reference

An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.

21 January 2018

1 reference

GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.

21 January 2018

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ZNF198 stabilizes the LSD1-CoREST-HDAC1 complex on chromatin through its MYM-type zinc fingers

21 January 2018

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A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes

21 January 2018

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Cellular reprogramming: recent advances in modeling neurological diseases

21 January 2018

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RCOR2 is a subunit of the LSD1 complex that regulates ESC property and substitutes for SOX2 in reprogramming somatic cells to pluripotency

21 January 2018

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Identification of the TFII-I family target genes in the vertebrate genome

21 January 2018

1 reference

Diversity and complexity in chromatin recognition by TFII-I transcription factors in pluripotent embryonic stem cells and embryonic tissues

21 January 2018

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Genomic and proteomic analysis of transcription factor TFII-I reveals insight into the response to cellular stress

21 January 2018

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21 January 2018

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21 January 2018

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Human cerebral cortex development from pluripotent stem cells to functional excitatory synapses

21 January 2018

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Directed differentiation of human pluripotent stem cells to cerebral cortex neurons and neural networks

21 January 2018

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Bmp signaling regulates a dose-dependent transcriptional program to control facial skeletal development

21 January 2018

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Sonic hedgehog signalling inhibits palatogenesis and arrests tooth development in a mouse model of the nevoid basal cell carcinoma syndrome

21 January 2018

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Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects

21 January 2018

1 reference

SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation

21 January 2018

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Disrupting hedgehog and WNT signaling interactions promotes cleft lip pathogenesis

21 January 2018

1 reference

Patched1 is required in neural crest cells for the prevention of orofacial clefts

21 January 2018

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Molecular profiles of mitogen activated protein kinase signaling pathways in orofacial development

21 January 2018

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21 January 2018

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21 January 2018

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Neural crest cell survival is dependent on Rho kinase and is required for development of the mid face in mouse embryos

21 January 2018

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Modeling supravalvular aortic stenosis syndrome with human induced pluripotent stem cells.

21 January 2018

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Williams Syndrome Transcription Factor is critical for neural crest cell function in Xenopus laevis

21 January 2018

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The H3K27 demethylase JMJD3 is required for maintenance of the embryonic respiratory neuronal network, neonatal breathing, and survival.

21 January 2018

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Lineage-specific polycomb targets and de novo DNA methylation define restriction and potential of neuronal progenitors.

21 January 2018

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The histone H3 lysine 27-specific demethylase Jmjd3 is required for neural commitment

21 January 2018

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A bivalent chromatin structure marks key developmental genes in embryonic stem cells

21 January 2018

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A ROCK inhibitor permits survival of dissociated human embryonic stem cells

21 January 2018

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High-throughput chromatin immunoprecipitation for genome-wide mapping of in vivo protein-DNA interactions and epigenomic states

21 January 2018

1 reference

Protocol for micro-purification, enrichment, pre-fractionation and storage of peptides for proteomics using StageTips

21 January 2018

1 reference

LSD1 regulates the balance between self-renewal and differentiation in human embryonic stem cells.

21 January 2018

1 reference

Molecular basis of Williams-Beuren syndrome: TFII-I regulated targets involved in craniofacial development

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Directed differentiation of human pluripotent cells to neural crest stem cells

1 reference