(Q33864543)

29 July 2017

title

Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder (English)

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29 July 2017

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patent ductus arteriosus

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Arya Mani

1

1 reference

29 July 2017

Jayaram Radhakrishnan

2

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29 July 2017

Anita Farhi

3

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29 July 2017

Khary S Carew

4

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29 July 2017

Carole A Warnes

5

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29 July 2017

Carol Nelson-Williams

6

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29 July 2017

Ronald W Day

7

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29 July 2017

Barbara Pober

8

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29 July 2017

Matthew W State

9

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29 July 2017

Richard P Lifton

10

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29 July 2017

language of work or name

English

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publication date

31 January 2005

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Proceedings of the National Academy of Sciences of the United States of America

29 July 2017

published in

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29 July 2017

volume

102

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29 July 2017

issue

8

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29 July 2017

page(s)

2975-2979

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Nonsense-mediated mRNA decay: terminating erroneous gene expression

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

Ultraconserved Elements in the Human Genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome

5 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

5 July 2018

https://api.crossref.org/works/10.1073%2FPNAS.0409852102

Finding genetic contributions to sporadic disease: a recessive locus at 12q24 commonly contributes to patent ductus arteriosus

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

Regulatory roles of AP-2 transcription factors in vertebrate development, apoptosis and cell-cycle control

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

Adenosine in sleep and wakefulness

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

AP-2-null cells disrupt morphogenesis of the eye, face, and limbs in chimeric mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

The prostaglandin receptor EP4 triggers remodelling of the cardiovascular system at birth.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

Enhanced apoptotic cell death of renal epithelial cells in mice lacking transcription factor AP-2beta

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

Adenosine: a mediator of the sleep-inducing effects of prolonged wakefulness

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

A human MSX1 homeodomain missense mutation causes selective tooth agenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

Familial occurrence of patent ductus arteriosus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

Sleepwalking and recurrent sleeptalking in children of childhood sleepwalkers.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

Hormonal role of adenosine in maintaining patency of the ductus arteriosus in fetal lambs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

Congenital heart disease in a cohort of 19,502 births with long-term follow-up

5 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0409852102

Comparative analysis of AP-2 alpha and AP-2 beta gene expression during murine embryogenesis.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0409852102

Circulating prostaglandin E2 concentrations and patent ductus arteriosus in fetal and neonatal lambs

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=549488

Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21

29 October 2018

1 reference

12 December 2020

Char syndrome: an additional family with polythelia, a new finding

1 reference

12 December 2020

Sleep-walking in twins

1 reference

12 December 2020

Familial patent ductus arteriosus: a further case of CHAR syndrome

1 reference

12 December 2020

Congenital Heart Disease in 56,109 Births Incidence and Natural History

1 reference

12 December 2020

A previously unrecognized X-linked syndrome of dysmorphia

1 reference

12 December 2020

Closure of the ductus arteriosus in premature infants by inhibition of prostaglandin synthesis

1 reference

12 December 2020

Responsiveness of the lamb ductus arteriosus to prostaglandins and their metabolites

1 reference

12 December 2020

The ulnar-mammary syndrome: an autosomal dominant pleiotropic gene

1 reference

12 December 2020

Histopathology of the arterial duct (ductus arteriosus) with and without treatment with prostaglandin E1

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0409852102

1 reference

29 July 2017

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29 July 2017

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