List of works - Antonio Baldini

14-3-3ε plays a role in cardiac ventricular compaction by regulating the cardiomyocyte cell cycle

scientific article

A Genetic Etiology for Interruption of the Aortic Arch Type B ⬇️

scientific article published on August 15, 1997

A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome

scientific article

A deficiency in the region homologous to human 17q21.33-q23.2 causes heart defects in mice.

scientific article

A fate map of Tbx1 expressing cells reveals heterogeneity in the second cardiac field

scientific article published on 01 July 2007

A genetic link between Tbx1 and fibroblast growth factor signaling.

scientific article published in October 2002

A mouse gene (Dgcr6) related to the Drosophila gonadal gene is expressed in early embryogenesis and is the homolog of a human gene deleted in DiGeorge syndrome ⬇️

scientific article published on January 1, 1997

A phenotypic rescue approach identifies lineage regionalization defects in a mouse model of DiGeorge syndrome

scientific article published in 2022

A pivotal role for endogenous TGF-beta-activated kinase-1 in the LKB1/AMP-activated protein kinase energy-sensor pathway

scholarly article

Canonical Wnt signaling functions in second heart field to promote right ventricular growth

scientific journal article

Conditional and constitutive expression of a Tbx1-GFP fusion protein in mice

scientific article

Congenital heart defects and 22q11 deletions: which genes count? ⬇️

scientific article published on August 1, 1998

Deficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice

scientific article

Deletion of chromosome 22q11 and pseudohypoparathyroidism ⬇️

scientific article published on 01 October 1997

DiGeorge anomaly and chromosome 10p deletions: One or two loci? ⬇️

scientific article published on November 28, 1997

DiGeorge syndrome: an update

scientific article

DiGeorge syndrome: the use of model organisms to dissect complex genetics

scientific article

DiGeorge's syndrome: a gene at last ⬇️

scientific article (publication date: 25 October 2003)

Diagnosis of X-linked Adrenal Hypoplasia Congenita by Mutation Analysis of the DAX1 Gene ⬇️

scientific article published on July 26, 1995

ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene ⬇️

scientific article published on April 1, 1998

Early thyroid development requires a Tbx1-Fgf8 pathway

scientific journal article

Ece1 and Tbx1 define distinct pathways to aortic arch morphogenesis

scientific journal article

Effects of individual segmental trisomies of human chromosome 21 syntenic regions on hippocampal long-term potentiation and cognitive behaviors in mice.

scientific article

Family with 22‐derived marker chromosome and late‐onset dementia of the Alzheimer type: II. Further cytogenetic analysis of the marker and characterization of the high‐level repeat sequences using fluorescence in situ hybridization ⬇️

scientific article published on August 1, 1993

Fgf15 is required for proper morphogenesis of the mouse cardiac outflow tract

scientific journal article

Fgf8 expression in the Tbx1 domain causes skeletal abnormalities and modifies the aortic arch but not the outflow tract phenotype of Tbx1 mutants

scientific journal article

Gain of function of Tbx1 affects pharyngeal and heart development in the mouse

scientific article published in March 2009

Gene-environment interaction impacts on heart development and embryo survival

scientific article published on 20 February 2019

Generating and modifying DiGeorge syndrome-like phenotypes in model organisms: is there a common genetic pathway?

scientific article

Genetic analysis of Down syndrome-associated heart defects in mice.

scientific article published on 26 March 2011

Genetic pathways to mammalian heart development: Recent progress from manipulation of the mouse genome

scientific article published on 24 November 2006

Goosecoid-Like Sequences and the Smallest Region of Deletion Overlap in DiGeorge and Velocardiofacial Syndromes ⬇️

scientific article published on December 1, 1997

In vivo genetic ablation of the periotic mesoderm affects cell proliferation survival and differentiation in the cochlea

scientific article

In vivo response to high-resolution variation of Tbx1 mRNA dosage

scientific journal article

Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity ⬇️

scientific article published on July 1, 1997

Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice

scientific article published on 01 April 2019

Localization of BRRN1, the Human Homologue ofDrosophila barr,to 2q11.2 ⬇️

scientific article published on December 1, 1997

Mapping segmental imbalances using comparative genomic hybridization and eigenanalysis ⬇️

scientific article published on January 1, 1995

Mesodermal expression of Tbx1 is necessary and sufficient for pharyngeal arch and cardiac outflow tract development

scientific article

Methylation of the 5' flanking sequences of the ribosomal DNA in human cell lines and in a human-hamster hybrid cell line

scientific article published on December 1, 1992

Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments ⬇️

scientific article published on November 1, 2001

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome ⬇️

scientific article published on May 1, 1998

Partial rescue of the Tbx1 mutant heart phenotype by Fgf8: genetic evidence of impaired tissue response to Fgf8

scientific journal article

Peroxisome proliferator-activated receptor-delta upregulates 14-3-3 epsilon in human endothelial cells via CCAAT/enhancer binding protein-beta

scientific article published on 15 February 2007

Rebalancing gene haploinsufficiency in vivo by targeting chromatin.

scientific article published on 03 June 2016

Retracted: Tbx1 Regulates the BMP-Smad1 Pathway in a Transcription Independent Manner

retracted article

Subepicardial endothelial cells invade the embryonic ventricle wall to form coronary arteries ⬇️

scientific article published on June 25, 2013

TBX1 Represses Vegfr2 Gene Expression and Enhances the Cardiac Fate of VEGFR2+ Cells

scientific article (publication date: 2015)

TBX1 and Basal Cell Carcinoma: Expression and Interactions with Gli2 and Dvl2 Signaling

scientific article published on 17 January 2020

TBX1 is required for inner ear morphogenesis

scientific journal article

TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome

scientific article

Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery development

scientific journal article

Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract

scientific journal article

Tbx1 is a negative modulator of Mef2c

scientific article

Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways

scientific journal article

Tbx1 regulates Vegfr3 and is required for lymphatic vessel development

scientific journal article

Tbx1 regulates population, proliferation and cell fate determination of otic epithelial cells

scientific journal article

Tbx1 regulates progenitor cell proliferation in the dental epithelium by modulating Pitx2 activation of p21

scientific journal article

Tbx1 regulates proliferation and differentiation of multipotent heart progenitors

scientific journal article

Tbx1 represses Mef2c gene expression and is correlated with histone 3 deacetylation of the anterior heart field enhancer

scientific article published on 30 August 2018

The 22q11.2 deletion syndrome: a gene dosage perspective.

scientific article

Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansion

scientific journal article

Transcriptional control in cardiac progenitors: Tbx1 interacts with the BAF chromatin remodeling complex and regulates Wnt5a

scientific article

Velo‐cardio‐facial syndrome: Frequency and extent of 22q1l deletions ⬇️

scientific article published on July 3, 1995

p53 Suppression partially rescues the mutant phenotype in mouse models of DiGeorge syndrome

scientific article

List of works by Antonio Baldini

14-3-3ε plays a role in cardiac ventricular compaction by regulating the cardiomyocyte cell cycle

A Genetic Etiology for Interruption of the Aortic Arch Type B ⬇️

A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome

A deficiency in the region homologous to human 17q21.33-q23.2 causes heart defects in mice.

A fate map of Tbx1 expressing cells reveals heterogeneity in the second cardiac field

A genetic link between Tbx1 and fibroblast growth factor signaling.

A mouse gene (Dgcr6) related to the Drosophila gonadal gene is expressed in early embryogenesis and is the homolog of a human gene deleted in DiGeorge syndrome ⬇️

A phenotypic rescue approach identifies lineage regionalization defects in a mouse model of DiGeorge syndrome

A pivotal role for endogenous TGF-beta-activated kinase-1 in the LKB1/AMP-activated protein kinase energy-sensor pathway

Canonical Wnt signaling functions in second heart field to promote right ventricular growth

Conditional and constitutive expression of a Tbx1-GFP fusion protein in mice

Congenital heart defects and 22q11 deletions: which genes count? ⬇️

Deficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice

Deletion of chromosome 22q11 and pseudohypoparathyroidism ⬇️

DiGeorge anomaly and chromosome 10p deletions: One or two loci? ⬇️

DiGeorge syndrome: an update

DiGeorge syndrome: the use of model organisms to dissect complex genetics

DiGeorge's syndrome: a gene at last ⬇️

Diagnosis of X-linked Adrenal Hypoplasia Congenita by Mutation Analysis of the DAX1 Gene ⬇️

ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene ⬇️

Early thyroid development requires a Tbx1-Fgf8 pathway

Ece1 and Tbx1 define distinct pathways to aortic arch morphogenesis

Effects of individual segmental trisomies of human chromosome 21 syntenic regions on hippocampal long-term potentiation and cognitive behaviors in mice.

Family with 22‐derived marker chromosome and late‐onset dementia of the Alzheimer type: II. Further cytogenetic analysis of the marker and characterization of the high‐level repeat sequences using fluorescence in situ hybridization ⬇️

Fgf15 is required for proper morphogenesis of the mouse cardiac outflow tract

Fgf8 expression in the Tbx1 domain causes skeletal abnormalities and modifies the aortic arch but not the outflow tract phenotype of Tbx1 mutants

Gain of function of Tbx1 affects pharyngeal and heart development in the mouse

Gene-environment interaction impacts on heart development and embryo survival

Generating and modifying DiGeorge syndrome-like phenotypes in model organisms: is there a common genetic pathway?

Genetic analysis of Down syndrome-associated heart defects in mice.

Genetic pathways to mammalian heart development: Recent progress from manipulation of the mouse genome

Goosecoid-Like Sequences and the Smallest Region of Deletion Overlap in DiGeorge and Velocardiofacial Syndromes ⬇️

In vivo genetic ablation of the periotic mesoderm affects cell proliferation survival and differentiation in the cochlea

In vivo response to high-resolution variation of Tbx1 mRNA dosage

Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity ⬇️

Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice

Localization of BRRN1, the Human Homologue ofDrosophila barr,to 2q11.2 ⬇️

Mapping segmental imbalances using comparative genomic hybridization and eigenanalysis ⬇️

Mesodermal expression of Tbx1 is necessary and sufficient for pharyngeal arch and cardiac outflow tract development

Methylation of the 5' flanking sequences of the ribosomal DNA in human cell lines and in a human-hamster hybrid cell line

Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments ⬇️

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome ⬇️

Partial rescue of the Tbx1 mutant heart phenotype by Fgf8: genetic evidence of impaired tissue response to Fgf8

Peroxisome proliferator-activated receptor-delta upregulates 14-3-3 epsilon in human endothelial cells via CCAAT/enhancer binding protein-beta

Rebalancing gene haploinsufficiency in vivo by targeting chromatin.

Retracted: Tbx1 Regulates the BMP-Smad1 Pathway in a Transcription Independent Manner

Subepicardial endothelial cells invade the embryonic ventricle wall to form coronary arteries ⬇️

TBX1 Represses Vegfr2 Gene Expression and Enhances the Cardiac Fate of VEGFR2+ Cells

TBX1 and Basal Cell Carcinoma: Expression and Interactions with Gli2 and Dvl2 Signaling

TBX1 is required for inner ear morphogenesis

TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome

Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery development

Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract

Tbx1 is a negative modulator of Mef2c

Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways

Tbx1 regulates Vegfr3 and is required for lymphatic vessel development

Tbx1 regulates population, proliferation and cell fate determination of otic epithelial cells

Tbx1 regulates progenitor cell proliferation in the dental epithelium by modulating Pitx2 activation of p21

Tbx1 regulates proliferation and differentiation of multipotent heart progenitors

Tbx1 represses Mef2c gene expression and is correlated with histone 3 deacetylation of the anterior heart field enhancer

The 22q11.2 deletion syndrome: a gene dosage perspective.

Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansion

Transcriptional control in cardiac progenitors: Tbx1 interacts with the BAF chromatin remodeling complex and regulates Wnt5a

Velo‐cardio‐facial syndrome: Frequency and extent of 22q1l deletions ⬇️

p53 Suppression partially rescues the mutant phenotype in mouse models of DiGeorge syndrome