From molecular mechanisms of cardiac development to genetic substrate of congenital heart diseases. (Q37749840)

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2 February 2020

review article

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title

From molecular mechanisms of cardiac development to genetic substrate of congenital heart diseases (English)

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Giovanni Stellin

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author name string

Antonella Cecchetto

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2 February 2020

Alessandra Rampazzo

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Annalisa Angelini

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Lucia Dal Bianco

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Luciano Daliento

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publication date

1 May 2010

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volume

6

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issue

3

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page(s)

373-393

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Bone morphogenetic protein-4 is required for mesoderm formation and patterning in the mouse

2 February 2020

cites work

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Bone morphogenetic proteins induce cardiomyocyte differentiation through the mitogen-activated protein kinase kinase kinase TAK1 and cardiac transcription factors Csx/Nkx-2.5 and GATA-4

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SMAD-mediated modulation of YY1 activity regulates the BMP response and cardiac-specific expression of a GATA4/5/6-dependent chick Nkx2.5 enhancer

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Characterization of homo- and heterodimerization of cardiac Csx/Nkx2.5 homeoprotein

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Identification of the in vivo casein kinase II phosphorylation site within the homeodomain of the cardiac tisue-specifying homeobox gene product Csx/Nkx2.5

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Cardiac transcription factor Csx/Nkx2-5: Its role in cardiac development and diseases

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Cardiac-specific activity of an Nkx2-5 enhancer requires an evolutionarily conserved Smad binding site

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Heart development in Drosophila requires the segment polarity gene wingless.

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The wingless signaling pathway is directly involved in Drosophila heart development

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Wnt antagonism initiates cardiogenesis in Xenopus laevis

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Wnt-11 activation of a non-canonical Wnt signalling pathway is required for cardiogenesis

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Wnt signaling in heart valve development and osteogenic gene induction

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heartless encodes a fibroblast growth factor receptor (DFR1/DFGF-R2) involved in the directional migration of early mesodermal cells in the Drosophila embryo

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Expression of a dominant negative mutant of the FGF receptor disrupts mesoderm formation in Xenopus embryos

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tinman and bagpipe: two homeo box genes that determine cell fates in the dorsal mesoderm of Drosophila

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Early stage-specific inhibitions of cardiomyocyte differentiation and expression of Csx/Nkx-2.5 and GATA-4 by phosphatidylinositol 3-kinase inhibitor LY294002.

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Drosophila NK-homeobox genes

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Csx: a murine homeobox-containing gene specifically expressed in the developing heart

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NK-2 homeobox genes and heart development

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A tyrosine-rich domain within homeodomain transcription factor Nkx2-5 is an essential element in the early cardiac transcriptional regulatory machinery

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Cardiac and extracardiac expression of Csx/Nkx2.5 homeodomain protein.

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Elevated expression of Nkx-2.5 in developing myocardial conduction cells.

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The cardiac determination factor, Nkx2-5, is activated by mutual cofactors GATA-4 and Smad1/4 via a novel upstream enhancer

21 January 2018

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Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block

21 January 2018

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An Nkx2-5/Bmp2/Smad1 negative feedback loop controls heart progenitor specification and proliferation

21 January 2018

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The zinc finger-containing transcription factors GATA-4, -5, and -6. Ubiquitously expressed regulators of tissue-specific gene expression.

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Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis

21 January 2018

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GATA4 transcription factor is required for ventral morphogenesis and heart tube formation

21 January 2018

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Gata5 is required for the development of the heart and endoderm in zebrafish.

21 January 2018

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GATA6 regulates HNF4 and is required for differentiation of visceral endoderm in the mouse embryo

21 January 2018

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An Nkx-dependent enhancer regulates cGATA-6 gene expression during early stages of heart development.

21 January 2018

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Direct activation of a GATA6 cardiac enhancer by Nkx2.5: evidence for a reinforcing regulatory network of Nkx2.5 and GATA transcription factors in the developing heart.

21 January 2018

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GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

21 January 2018

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A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family

21 January 2018

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D-mef2 is a target for Tinman activation during Drosophila heart development

21 January 2018

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Mef2c is a direct transcriptional target of ISL1 and GATA factors in the anterior heart field during mouse embryonic development

21 January 2018

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D-mef2: a Drosophila mesoderm-specific MADS box-containing gene with a biphasic expression profile during embryogenesis

21 January 2018

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D-MEF2: a MADS box transcription factor expressed in differentiating mesoderm and muscle cell lineages during Drosophila embryogenesis

21 January 2018

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Requirement of MADS domain transcription factor D-MEF2 for muscle formation in Drosophila

21 January 2018

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Control of mouse cardiac morphogenesis and myogenesis by transcription factor MEF2C

21 January 2018

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Mitochondrial deficiency and cardiac sudden death in mice lacking the MEF2A transcription factor

21 January 2018

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MEF2B is a potent transactivator expressed in early myogenic lineages

21 January 2018

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Cardiac tissue enriched factors serum response factor and GATA-4 are mutual coregulators

21 January 2018

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Activation of cardiac gene expression by myocardin, a transcriptional cofactor for serum response factor

21 January 2018

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Modulation of cardiac growth and development by HOP, an unusual homeodomain protein

21 January 2018

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Hop is an unusual homeobox gene that modulates cardiac development

21 January 2018

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Targeted inactivation of serum response factor in the developing heart results in myocardial defects and embryonic lethality

21 January 2018

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Serum response factor is essential for mesoderm formation during mouse embryogenesis

21 January 2018

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Srf(-/-) ES cells display non-cell-autonomous impairment in mesodermal differentiation

21 January 2018

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A HANDful of questions: the molecular biology of the heart and neural crest derivatives (HAND)-subclass of basic helix-loop-helix transcription factors

21 January 2018

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Regulation of cardiac mesodermal and neural crest development by the bHLH transcription factor, dHAND

21 January 2018

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Heart and extra-embryonic mesodermal defects in mouse embryos lacking the bHLH transcription factor Hand1

21 January 2018

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The Hand1 bHLH transcription factor is essential for placentation and cardiac morphogenesis

21 January 2018

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The combinatorial activities of Nkx2.5 and dHAND are essential for cardiac ventricle formation

21 January 2018

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The transcription factors GATA4 and dHAND physically interact to synergistically activate cardiac gene expression through a p300-dependent mechanism

21 January 2018

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The basic-helix-loop-helix transcription factor HAND2 directly regulates transcription of the atrial naturetic peptide gene

21 January 2018

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21 January 2018

The T-box gene family

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Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome

21 January 2018

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A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease

21 January 2018

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Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation

21 January 2018

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Differential expression and function of Tbx5 and Tbx20 in cardiac development

21 January 2018

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Tbx20 is essential for cardiac chamber differentiation and repression of Tbx2

21 January 2018

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Molecular embryology for an understanding of congenital heart diseases

21 January 2018

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The role of Zic genes in neural development.

21 January 2018

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The X-linked mouse mutation Bent tail is associated with a deletion of the Zic3 locus

21 January 2018

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The vertebrate spalt genes in development and disease

21 January 2018

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Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart

21 January 2018

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The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development

21 January 2018

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Molecular cloning and chromosomal localization of the human CITED2 gene encoding p35srj/Mrg1.

21 January 2018

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Expression of Tfap2d, the gene encoding the transcription factor Ap-2δ, during mouse embryogenesis

21 January 2018

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Cited2 controls left-right patterning and heart development through a Nodal-Pitx2c pathway

21 January 2018

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Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator

21 January 2018

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Cited2 is required both for heart morphogenesis and establishment of the left-right axis in mouse development

21 January 2018

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Differences in left-right axis pathways in mouse and chick: functions of FGF8 and SHH

21 January 2018

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Nodal signaling uses activin and transforming growth factor-beta receptor-regulated Smads

21 January 2018

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Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field

21 January 2018

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Molecular cloning of FOG-2: a modulator of transcription factor GATA-4 in cardiomyocytes

21 January 2018

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A syndrome of tricuspid atresia in mice with a targeted mutation of the gene encoding Fog-2

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FOG-2, a cofactor for GATA transcription factors, is essential for heart morphogenesis and development of coronary vessels from epicardium

21 January 2018

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Requirement for LIM homeobox gene Isl1 in motor neuron generation reveals a motor neuron-dependent step in interneuron differentiation

21 January 2018

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Isl1 identifies a cardiac progenitor population that proliferates prior to differentiation and contributes a majority of cells to the heart

21 January 2018

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Insulin gene enhancer binding protein Isl-1 is a member of a novel class of proteins containing both a homeo- and a Cys-His domain

21 January 2018

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Pathogenetic mechanisms of congenital cardiovascular malformations revisited

21 January 2018

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Maternal diabetes induces congenital heart defects in mice by altering the expression of genes involved in cardiovascular development

21 January 2018

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Risk factors for cardiovascular malformations in Finland

21 January 2018

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Hypertension is a major risk factor for aortic root dilatation in women with Turner's syndrome.

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Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes).

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Role of TBX1 in human del22q11.2 syndrome

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Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

21 January 2018

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Mutations in the human Jagged1 gene are responsible for Alagille syndrome

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

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

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Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

21 January 2018

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Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome

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Multifactorial inheritance hypothesis for the etiology of congenital heart diseases. The genetic-environmental interaction

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The developmental genetics of congenital heart disease.

21 January 2018

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Genetics and embryological mechanisms of congenital heart diseases

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Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pedia

21 January 2018

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The geneticist's role in adult congenital heart disease

21 January 2018

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Principles for the buffering of genetic variation

21 January 2018

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Genetic mechanisms controlling cardiovascular development

21 January 2018

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Maternal MTHFR 677C>T is a risk factor for congenital heart defects: effect modification by periconceptional folate supplementation

21 January 2018

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The cardiac tissue-restricted homeobox protein Csx/Nkx2.5 physically associates with the zinc finger protein GATA4 and cooperatively activates atrial natriuretic factor gene expression

21 January 2018

1 reference

GATA-4 and Nkx-2.5 coactivate Nkx-2 DNA binding targets: role for regulating early cardiac gene expression

21 January 2018

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Mutation in myosin heavy chain 6 causes atrial septal defect

21 January 2018

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α-cardiac actin mutations produce atrial septal defects

21 January 2018

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Congenital heart disease caused by mutations in the transcription factor NKX2-5

21 January 2018

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Assignment of Cardiac Homeobox Gene CSX to Human Chromosome 5q34

21 January 2018

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Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.

21 January 2018

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Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects

21 January 2018

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NKX2.5 mutations in patients with tetralogy of fallot

21 January 2018

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Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease

21 January 2018

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Investigation of somatic NKX2-5 mutations in congenital heart disease

21 January 2018

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Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease

21 January 2018

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Functional analyses of three Csx/Nkx-2.5 mutations that cause human congenital heart disease

21 January 2018

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Dual effects of the homeobox transcription factor Csx/Nkx2-5 on cardiomyocytes

21 January 2018

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Spectrum of heart disease associated with murine and human GATA4 mutation

21 January 2018

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Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors

21 January 2018

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A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot.

21 January 2018

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Screening of 99 Danish patients with congenital heart disease for GATA4 mutations.

21 January 2018

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GATA4 sequence variants in patients with congenital heart disease

21 January 2018

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GATA4 mutations in 486 Chinese patients with congenital heart disease.

21 January 2018

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Culture, population structure, and low genetic diversity in Pleistocene hominins

21 January 2018

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X-linked situs abnormalities result from mutations in ZIC3

21 January 2018

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X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3.

21 January 2018

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A submicroscopic deletion in Xq26 associated with familial situs ambiguus

21 January 2018

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Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects

21 January 2018

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Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain.

21 January 2018

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SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders

21 January 2018

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Okihiro syndrome is caused by SALL4 mutations

21 January 2018

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Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy

21 January 2018

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Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum

21 January 2018

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Identification and functional analysis of CITED2 mutations in patients with congenital heart defects

21 January 2018

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A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts

21 January 2018

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A functional genetic study identifies HAND1 mutations in septation defects of the human heart

21 January 2018

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Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus

21 January 2018

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Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)

21 January 2018

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Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

21 January 2018

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Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects

21 January 2018

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TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts

21 January 2018

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Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy

21 January 2018

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T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease

21 January 2018

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Cardiac developmental biology: from flies to humans.

21 January 2018

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CRELD1 andGATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects

21 January 2018

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ZFPM2/FOG2 andHEY2 genes analysis in nonsyndromic tricuspid atresia

21 January 2018

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21 January 2018

Identifiers

DOI

10.2217/FCA.10.10

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20462343%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

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