(Q64044228)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30029678%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

title

Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30029678%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

main subject

exome sequencing

0 references

congenital heart disease

1 reference

inferred from title

author

Claudia Gonzaga-Jauregui

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30029678%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

Erika Berman-Rosenzweig

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30029678%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

Dunbar Ivy

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30029678%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

author name string

Na Zhu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30029678%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

Carrie L Welch

2

1 reference

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13 April 2020

Jiayao Wang

3

1 reference

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13 April 2020

Philip M Allen

4

1 reference

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13 April 2020

Lijiang Ma

6

1 reference

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13 April 2020

Alejandra K King

7

1 reference

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13 April 2020

Usha Krishnan

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30029678%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

Eric D Austin

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30029678%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

Rizwan Hamid

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30029678%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

Michael W Pauciulo

13

1 reference

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13 April 2020

Katie A Lutz

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30029678%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

William C Nichols

15

1 reference

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13 April 2020

Jeffrey G Reid

16

1 reference

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13 April 2020

John D Overton

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30029678%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

Aris Baras

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30029678%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

Frederick E Dewey

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30029678%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

Yufeng Shen

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30029678%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

Wendy K Chung

21

1 reference

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13 April 2020

language of work or name

English

0 references

publication date

20 July 2018

1 reference

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13 April 2020

1 reference

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13 April 2020

volume

10

1 reference

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13 April 2020

issue

1

1 reference

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13 April 2020

page(s)

56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30029678%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1186/s13073-018-0566-x

13 April 2020

exact match

0 references

cites work

Regulation of Wnt signaling by Sox proteins: XSox17 alpha/beta and XSox3 physically interact with beta-catenin

1 reference

12 December 2020

Depletion of definitive gut endoderm in Sox17-null mutant mice

1 reference

12 December 2020

Human Gene Mutation Database (HGMD): 2003 update.

1 reference

12 December 2020

BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease.

1 reference

12 December 2020

Redundant roles of Sox17 and Sox18 in postnatal angiogenesis in mice

1 reference

12 December 2020

Redundant roles of Sox17 and Sox18 in early cardiovascular development of mouse embryos

1 reference

12 December 2020

Sox17 and Sox4 differentially regulate beta-catenin/T-cell factor activity and proliferation of colon carcinoma cells

1 reference

12 December 2020

Mapping short DNA sequencing reads and calling variants using mapping quality scores

1 reference

12 December 2020

Susceptibility loci for intracranial aneurysm in European and Japanese populations

1 reference

12 December 2020

Generation of a mouse line expressing Sox17-driven Cre recombinase with specific activity in arteries.

1 reference

12 December 2020

Sox7 and Sox17 are strain-specific modifiers of the lymphangiogenic defects caused by Sox18 dysfunction in mice

1 reference

12 December 2020

Updated clinical classification of pulmonary hypertension.

1 reference

12 December 2020

1 reference

12 December 2020

SoxF genes: Key players in the development of the cardio-vascular system

1 reference

12 December 2020

Gata4 directs development of cardiac-inducing endoderm from ES cells

1 reference

12 December 2020

Genomewide RNA expression profiling in lung identifies distinct signatures in idiopathic pulmonary arterial hypertension and secondary pulmonary hypertension

1 reference

12 December 2020

Genome-wide association study of intracranial aneurysm identifies three new risk loci

1 reference

12 December 2020

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

12 December 2020

ChEA: transcription factor regulation inferred from integrating genome-wide ChIP-X experiments

1 reference

12 December 2020

Sox17 modulates Wnt3A/beta-catenin-mediated transcriptional activation of the Lef-1 promoter.

1 reference

12 December 2020

The primitive endoderm lineage of the mouse blastocyst: sequential transcription factor activation and regulation of differentiation by Sox17.

1 reference

12 December 2020

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

12 December 2020

Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension

1 reference

12 December 2020

Missense mutations of the BMPR1B (ALK6) gene in childhood idiopathic pulmonary arterial hypertension

1 reference

12 December 2020

Transcription factor pathways and congenital heart disease.

1 reference

12 December 2020

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

1 reference

12 December 2020

Wnt/β-catenin and Bmp signals control distinct sets of transcription factors in cardiac progenitor cells

1 reference

12 December 2020

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease

1 reference

12 December 2020

Genome-wide association study of intracranial aneurysms confirms role of Anril and SOX17 in disease risk

1 reference

12 December 2020

Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension.

1 reference

12 December 2020

Genetics of congenital heart disease: the glass half empty

1 reference

12 December 2020

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

1 reference

12 December 2020

De novo mutations in histone-modifying genes in congenital heart disease.

1 reference

12 December 2020

Analysis of Dll4 regulation reveals a combinatorial role for Sox and Notch in arterial development

1 reference

12 December 2020

Of mice and men: molecular genetics of congenital heart disease

1 reference

12 December 2020

Sox17 is indispensable for acquisition and maintenance of arterial identity

1 reference

12 December 2020

Pulmonary hypertension related to congenital heart disease: a call for action

1 reference

12 December 2020

ClinVar: public archive of relationships among sequence variation and human phenotype

1 reference

12 December 2020

The Reactome pathway knowledgebase

1 reference

12 December 2020

Direct reversal of glucocorticoid resistance by AKT inhibition in acute lymphoblastic leukemia

1 reference

12 December 2020

Sox17 is required for normal pulmonary vascular morphogenesis

1 reference

12 December 2020

A general framework for estimating the relative pathogenicity of human genetic variants

1 reference

12 December 2020

Transcriptional atlas of cardiogenesis maps congenital heart disease interactome

1 reference

12 December 2020

Lifetime prevalence of congenital heart disease in the general population from 2000 to 2010.

1 reference

12 December 2020

A framework for the interpretation of de novo mutation in human disease

1 reference

12 December 2020

Ion channels and transporters as therapeutic targets in the pulmonary circulation

1 reference

12 December 2020

Genetics of pulmonary hypertension

1 reference

12 December 2020

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

1 reference

12 December 2020

The contribution of de novo coding mutations to autism spectrum disorder

1 reference

12 December 2020

SOX17 links gut endoderm morphogenesis and germ layer segregation

1 reference

12 December 2020

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

1 reference

12 December 2020

Congenital heart disease: the crossroads of genetics, epigenetics and environment

1 reference

12 December 2020

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

1 reference

12 December 2020

Deficiency of endothelium-specific transcription factor Sox17 induces intracranial aneurysm.

1 reference

12 December 2020

Canonical wnt signaling regulates atrioventricular junction programming and electrophysiological properties.

1 reference

12 December 2020

Excess of rare, inherited truncating mutations in autism

1 reference

12 December 2020

Interpreting de novo Variation in Human Disease Using denovolyzeR.

1 reference

12 December 2020

Endocardial Notch Signaling in Cardiac Development and Disease.

1 reference

12 December 2020

Convergence of cMyc and β-catenin on Tcf7l1 enables endoderm specification

1 reference

12 December 2020

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

1 reference

12 December 2020

Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping

1 reference

12 December 2020

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

12 December 2020

Genetic analyses in a cohort of children with pulmonary hypertension.

1 reference

12 December 2020

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

1 reference

12 December 2020

Structural insight, mutation and interactions in human Beta-catenin and SOX17 protein: A molecular-level outlook for organogenesis

1 reference

12 December 2020

Who's Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy

1 reference

12 December 2020

Reactome pathway analysis: a high-performance in-memory approach

1 reference

12 December 2020

Genetics and Genomics of Congenital Heart Disease

1 reference

12 December 2020

The Changing Landscape of Pulmonary Arterial Hypertension in the Adult with Congenital Heart Disease

1 reference

12 December 2020

SoxF factors induce Notch1 expression via direct transcriptional regulation during early arterial development

1 reference

12 December 2020

Pulmonary arterial hypertension in the USA: an epidemiological study in a large insured pediatric population

1 reference

12 December 2020

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

1 reference

12 December 2020

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

1 reference

12 December 2020

Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults

1 reference

12 December 2020

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

1 reference

12 December 2020

10.1186/S13073-018-0566-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30029678%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

13 April 2020

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/s13073-018-0566-x

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30029678%20AND%20SRC:MED&resulttype=core&format=json

13 April 2020

1 reference