GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm

scientific article published on 15 October 2020

GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.7554/ELIFE.53278
P932PMC publication ID7593088
P698PubMed publication ID33054971

P50authorMartin Tristani-FirouziQ92169819
Deepak SrivastavaQ92418805
Lauren WassonQ90974959
Joshua M GorhamQ91185922
Radhika AgarwalQ91711851
Christine E. SeidmanQ30123970
Steven R DePalmaQ57036097
George A PorterQ57036150
Daniel M DeLaughterQ57515356
Christopher N ToepferQ59536414
Bruce D. GelbQ64462269
David C. ConnerQ64869133
Jonathan G SeidmanQ88295024
Jon A L WillcoxQ89216162
Elizabeth GoldmuntzQ89676313
Ângela Taís Mattei da SilvaQ90817846
P2093author name stringTarsha Ward
Arun Sharma
Wendy K Chung
Yuri Kim
Alexandre C Pereira
Daniel Bernstein
Seongwon Kim
Manuel Schmid
Sarah U Morton
Min Young Jang
Meraj Neyazi
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Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiationQ24291385
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationQ24295098
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5Q24307366
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndromeQ24311600
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive developmentQ24322665
GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signalingQ24322838
GATA-6 regulates semaphorin 3C and is required in cardiac neural crest for cardiovascular morphogenesisQ24541315
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In vivo reprogramming of adult pancreatic exocrine cells to beta-cellsQ28292190
FOXA2 Is Required for Enhancer Priming during Pancreatic DifferentiationQ91770771
GATA6 regulates HNF4 and is required for differentiation of visceral endoderm in the mouse embryoQ28506998
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Bop encodes a muscle-restricted protein containing MYND and SET domains and is essential for cardiac differentiation and morphogenesisQ28587459
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Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic herniaQ28657716
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Dynamic regulation of Pdx1 enhancers by Foxa1 and Foxa2 is essential for pancreas development.Q34657904
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FGF and retinoic acid activity gradients control the timing of neural crest cell emigration in the trunkQ35156970
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Zic1 controls placode progenitor formation non-cell autonomously by regulating retinoic acid production and transportQ35777444
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6Q35788558
GATA4 and GATA6 control mouse pancreas organogenesis.Q36290293
A contemporary atlas of the mouse diaphragm: myogenicity, vascularity, and the Pax3 connection.Q36473287
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiencyQ36635415
Kif7 is required for the patterning and differentiation of the diaphragm in a model of syndromic congenital diaphragmatic herniaQ36884254
The Congenital Heart Disease Genetic Network Study: rationale, design, and early resultsQ36919920
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomaliesQ36959752
Human Pancreatic β Cell lncRNAs Control Cell-Specific Regulatory NetworksQ37634529
The second heart fieldQ37997211
New developments in the second heart field.Q38004286
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SOX6 attenuates glucose-stimulated insulin secretion by repressing PDX1 transcriptional activity and is down-regulated in hyperinsulinemic obese mice.Q38321332
An improved ATAC-seq protocol reduces background and enables interrogation of frozen tissues.Q38372097
Identification of novel Hoxa1 downstream targets regulating hindbrain, neural crest and inner ear developmentQ38528125
Complex Interdependence Regulates Heterotypic Transcription Factor Distribution and Coordinates CardiogenesisQ38660921
GATA6 is essential for endoderm formation from human pluripotent stem cellsQ38729075
Retinoic acid maintains human skeletal muscle progenitor cells in an immature stateQ39063091
Single-Cell Resolution of Temporal Gene Expression during Heart DevelopmentQ39191249
Targeting SOX17 in human embryonic stem cells creates unique strategies for isolating and analyzing developing endodermQ39583799
The lncRNA DEANR1 facilitates human endoderm differentiation by activating FOXA2 expressionQ41113862
ChIPseeker: an R/Bioconductor package for ChIP peak annotation, comparison and visualization.Q41235136
Congenital diaphragmatic hernias: from genes to mechanisms to therapies.Q41440531
A tissue-specific, Gata6-driven transcriptional program instructs remodeling of the mature arterial treeQ42099636
HAND2 Target Gene Regulatory Networks Control Atrioventricular Canal and Cardiac Valve DevelopmentQ42776614
GATA5 interacts with GATA4 and GATA6 in outflow tract developmentQ43991972
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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.Q46564299
Developmental expression pattern of Stra6, a retinoic acid-responsive gene encoding a new type of membrane proteinQ48050043
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Reversal of Hox1 gene subfunctionalization in the mouseQ48454470
Differentiation and Contractile Analysis of GFP-Sarcomere Reporter hiPSC-CardiomyocytesQ48505612
CRISPR/Cas9-Mediated Fluorescent Tagging of Endogenous Proteins in Human Pluripotent Stem Cells.Q49823752
Gata6 in pluripotent stem cells enhance the potential to differentiate into cardiomyocytesQ50044014
Genome Editing in hPSCs Reveals GATA6 Haploinsufficiency and a Genetic Interaction with GATA4 in Human Pancreatic DevelopmentQ50455898
Development of a lethal congenital heart defect in the splotch (Pax3) mutant mouse.Q52190678
GATA6 Regulates Aortic Valve Remodeling and its Haploinsufficiency Leads to RL-Type Bicuspid Aortic Valve.Q52641921
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of FallotQ63869150
Pax3 cooperates with Ldb1 to direct local chromosome architecture during myogenic lineage specificationQ64283883
The role of hepatic nuclear factor 1 alpha and PDX-1 in transcriptional regulation of the pdx-1 geneQ74599400
P4510describes a project that usesggplot2Q326489
DESeq2Q113018293
P577publication date2020-10-15
P1433published ineLifeQ2000008
P1476titleGATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm
P478volume9

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cites work (P2860)
Q112720883GATA6 defines endoderm fate by controlling chromatin accessibility during differentiation of human-induced pluripotent stem cells
Q115212737Genomic enhancers in cardiac development and disease
Q112812068Genomic frontiers in congenital heart disease
Q112703027The nuclear receptor ERR cooperates with the cardiogenic factor GATA4 to orchestrate cardiomyocyte maturation

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