Lista de obras - Sally L. Dunwoodie - Dominio Público Uruguay

'Big issues' in neurodevelopment for children and adults with congenital heart disease

artículo científico publicado en 2019

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

artículo científico publicado en 2019

A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies

artículo científico publicado en 2020

A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data

artículo científico publicado en 2018

A cell autonomous role for the Notch ligand Delta-like 3 in αβ T-cell development.

artículo científico publicado en 2010

A mechanism for gene-environment interaction in the etiology of congenital scoliosis.

artículo científico publicado en 2012

A radiation hybrid transcript map of the mouse genome

artículo científico publicado en 2001

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

scientific journal article

Abnormal vertebral segmentation and the notch signaling pathway in man.

artículo científico publicado en 2007

Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide.

artículo científico publicado en 2017

Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection

artículo científico publicado en 2019

Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG

article

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

artículo científico publicado en 2013

Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm

artículo científico publicado en 2002

BMP/SMAD1 signaling sets a threshold for the left/right pathway in lateral plate mesoderm and limits availability of SMAD4.

artículo científico publicado en 2008

Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers: Practical Implications for Clinical Application

artículo científico publicado en 2022

Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders

artículo científico publicado en 2019

Breaking symmetry: a clinical overview of left-right patterning.

artículo científico publicado en 2004

CITED2 limits pathogenic inflammatory gene programs in myeloid cells

artículo científico publicado en 2020

Characterizing embryonic gene expression patterns in the mouse using nonredundant sequence-based selection

artículo científico publicado en 2003

Cited1 deficiency suppresses intestinal tumorigenesis.

artículo científico publicado en 2013

Cited1 is a bifunctional transcriptional cofactor that regulates early nephronic patterning

artículo científico publicado en 2005

Cited1 is required in trophoblasts for placental development and for embryo growth and survival

scientific journal article

Cited2 Regulates Neocortical Layer II/III Generation and Somatosensory Callosal Projection Neuron Development and Connectivity

artículo científico publicado en 2016

Cited2 gene controls pluripotency and cardiomyocyte differentiation of murine embryonic stem cells through Oct4 gene

artículo científico publicado en 2012

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

scientific journal article

Cited2 is required for fetal lung maturation

artículo científico publicado en 2008

Cited2 is required for the maintenance of glycolytic metabolism in adult hematopoietic stem cells

artículo científico publicado en 2013

Cited2 is required for the proper formation of the hyaloid vasculature and for lens morphogenesis

scientific journal article

Cited2 is required in trophoblasts for correct placental capillary patterning

artículo científico publicado en 2014

Cited2, a coactivator of HNF4alpha, is essential for liver development

artículo científico publicado en 2007

Cited2, a transcriptional modulator protein, regulates metabolism in murine embryonic stem cells

artículo científico publicado en 2013

Cloning of mouse Cited4, a member of the CITED family p300/CBP-binding transcriptional coactivators: induced expression in mammary epithelial cells

scientific journal article

Combinatorial signaling in the heart orchestrates cardiac induction, lineage specification and chamber formation.

artículo científico publicado en 2006

Complex SUMO-1 regulation of cardiac transcription factor Nkx2-5

artículo científico publicado en 2011

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.

artículo científico publicado en 2014

Conditional deletion of Cited2 results in defective corneal epithelial morphogenesis and maintenance.

artículo científico publicado en 2009

Cooperation between somatic Ikaros and Notch1 mutations at the inception of T-ALL

scientific article published on 15 August 2011

Coordination of skeletal muscle gene expression occurs late in mammalian development

artículo científico publicado en 1991

Cyclical expression of the Notch/Wnt regulator Nrarp requires modulation by Dll3 in somitogenesis

artículo científico publicado en 2009

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.

artículo científico publicado en 2017

Deletion of HIF-1α partially rescues the abnormal hyaloid vascular system in Cited2 conditional knockout mouse eyes ⬇️

artículo científico publicado el 11 de mayo de 2012

Developmental regulation of Notch signaling genes in the embryonic pituitary: Prop1 deficiency affects Notch2 expression

artículo científico publicado en 2004

Diseases of development: leveraging developmental biology to understand human disease

artículo científico publicado en 2020

Disruption of the somitic molecular clock causes abnormal vertebral segmentation

artículo científico publicado en 2007

Divergent functions and distinct localization of the Notch ligands DLL1 and DLL3 in vivo

artículo científico publicado en 2007

Diverse requirements for Notch signalling in mammals

artículo científico publicado en 2002

Dll3 andNotch1 genetic interactions model axial segmental and craniofacial malformations of human birth defects

artículo científico publicado en 2007

Dll3 pudgy mutation differentially disrupts dynamic expression of somite genes

scientific journal article

Dynamic expression patterns of the pudgy/spondylocostal dysostosis gene Dll3 in the developing nervous system

artículo científico publicado en 2001

Edd, the Murine Ortholog of the hyperplastic discs (hyd) Gene, Is Essential for Yolk Sac Vascularization and Chorioallantoic Fusion.

artículo científico publicado en 2004

Edd, the murine hyperplastic disc gene, is essential for yolk sac vascularization and chorioallantoic fusion

artículo científico publicado en 2004

Evolution of distinct EGF domains with specific functions

artículo científico publicado en 2005

Folic acid prevents exencephaly in Cited2 deficient mice

scientific journal article

Four-Generation Family With Ebstein Anomaly Highlights Future Challenges in Congenital Heart Disease Genetics.

artículo científico publicado en 2017

Functional characterisation of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease

scientific article published on 18 October 2019

Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants

scientific article published on 01 March 2020

Gene-environment interaction demonstrates the vulnerability of the embryonic heart.

artículo científico publicado en 2014

Gene-environment interaction impacts on heart development and embryo survival

scientific article published on 20 February 2019

Generation of conditional Cited2 null alleles

artículo científico publicado en 2006

Genetic and Environmental Interaction in Malformation of the Vertebral Column

Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease

artículo científico publicado en 2018

Gestational stress induces the unfolded protein response, resulting in heart defects

artículo científico publicado en 2016

Gonadal defects in Cited2-mutant mice indicate a role for SF1 in both testis and ovary differentiation

artículo científico publicado en 2010

HIF-1α deletion partially rescues defects of hematopoietic stem cell quiescence caused by Cited2 deficiency

artículo científico publicado en 2012

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

artículo científico publicado en 2020

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease

scientific article published on 08 October 2018

Insulin Downregulates the Transcriptional Coregulator CITED2, an Inhibitor of Proangiogenic Function in Endothelial Cells.

artículo científico publicado en 2016

KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations

scientific article published on 05 May 2020

Loss of Cited2 affects trophoblast formation and vascularization of the mouse placenta

scientific journal article

Loss of Cited2 causes congenital heart disease by perturbing left-right patterning of the body axis

artículo científico publicado en 2010

Mig-6 regulates endometrial genes involved in cell cycle and progesterone signaling.

artículo científico publicado en 2015

Molecular diagnosis of vertebral segmentation disorders in humans

artículo científico publicado en 2008

Msg1 and Mrg1, founding members of a gene family, show distinct patterns of gene expression during mouse embryogenesis.

artículo científico publicado en 1998

Murine T-box transcription factor Tbx20 acts as a repressor during heart development, and is essential for adult heart integrity, function and adaptation

scientific journal article

Mutated MESP2 causes spondylocostal dysostosis in humans

artículo científico publicado en 2004

Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus

artículo científico publicado en 2013

Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis

scientific journal article

Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype

artículo científico publicado en 2006

Mutation of the fucose-specific beta1,3 N-acetylglucosaminyltransferase LFNG results in abnormal formation of the spine

artículo científico publicado en 2009

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors

artículo científico publicado en 2022

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

artículo científico publicado en 2017

NAD deficiency due to environmental factors or gene-environment interactions causes congenital malformations and miscarriage in mice

artículo científico publicado en 2020

NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets

artículo científico publicado en 2015

Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis.

artículo científico publicado en 2010

Notch1 endocytosis is induced by ligand and is required for signal transduction.

artículo científico publicado en 2015

Notch4 reveals a novel mechanism regulating Notch signal transduction

scientific journal article

Placental insufficiency associated with loss of Cited1 causes renal medullary dysplasia

artículo científico publicado en 2009

Polygenic Risk in Families With Spontaneous Coronary Artery Dissection

scholarly article

Precision Medicine in Cardiovascular Disease: Genetics and Impact on Phenotypes

artículo científico publicado en 2021

Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans

artículo científico publicado en 2009

Remembering Rosa Beddington--a tribute from her friends and colleagues

artículo científico publicado en 2002

Renal developmental defects resulting from in utero hypoxia are associated with suppression of ureteric β-catenin signaling

artículo científico publicado en 2015

Reprint of mutation of the fucose-specific beta1,3 N-acetylglucosaminyltransferase LFNG results in abnormal formation of the spine.

artículo científico publicado en 2009

Role of Delta-like-3 in mammalian somitogenesis and vertebral column formation

artículo científico publicado en 2008

SVPV: a structural variant prediction viewer for paired-end sequencing datasets

artículo científico publicado en 2017

SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation

scientific journal article

Sp5, a new member of the Sp1 family, is dynamically expressed during development and genetically interacts with Brachyury

scientific journal article

Spliceogen: an integrative, scalable tool for the discovery of splice-altering variants

scientific article published on 01 November 2019

Spondylocostal Dysostosis, Autosomal Recessive

artículo científico publicado en 2017

Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p

scientific article published on 01 August 2008

Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation from Genome Sequencing

artículo científico publicado en 2020

Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas

artículo científico publicado en 2017

Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease

artículo científico publicado en 2014

The expression of the imprinted gene Ipl is restricted to extra-embryonic tissues and embryonic lateral mesoderm during early mouse development

artículo científico publicado en 2002

The mouse notches up another success: understanding the causes of human vertebral malformation.

artículo científico publicado en 2011

The pro-death role of Cited2 in stroke is regulated by E2F1/4 transcription factors

artículo científico publicado en 2019

The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease

artículo científico publicado en 2016

The role of Notch in patterning the human vertebral column

scientific article published on 14 July 2009

The role of hypoxia in development of the Mammalian embryo

artículo científico publicado en 2009

The transcriptional activity of CITED1 is regulated by phosphorylation in a cell cycle-dependent manner

artículo científico publicado en 2006

Tinman/Nkx2-5 acts via miR-1 and upstream of Cdc42 to regulate heart function across species

scientific journal article

Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis

artículo científico publicado en 2010

Unrestricted lineage differentiation of parthenogenetic ES cells.

artículo científico publicado en 1997

VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants

artículo científico publicado en 2019

Ways, means and consequences of shaping morphogen gradients

artículo científico publicado en 2013

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

artículo científico publicado en 2019

Lista de obras de Sally L. Dunwoodie

'Big issues' in neurodevelopment for children and adults with congenital heart disease

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies

A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data

A cell autonomous role for the Notch ligand Delta-like 3 in αβ T-cell development.

A mechanism for gene-environment interaction in the etiology of congenital scoliosis.

A radiation hybrid transcript map of the mouse genome

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

Abnormal vertebral segmentation and the notch signaling pathway in man.

Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide.

Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection

Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm

BMP/SMAD1 signaling sets a threshold for the left/right pathway in lateral plate mesoderm and limits availability of SMAD4.

Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers: Practical Implications for Clinical Application

Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders

Breaking symmetry: a clinical overview of left-right patterning.

CITED2 limits pathogenic inflammatory gene programs in myeloid cells

Characterizing embryonic gene expression patterns in the mouse using nonredundant sequence-based selection

Cited1 deficiency suppresses intestinal tumorigenesis.

Cited1 is a bifunctional transcriptional cofactor that regulates early nephronic patterning

Cited1 is required in trophoblasts for placental development and for embryo growth and survival

Cited2 Regulates Neocortical Layer II/III Generation and Somatosensory Callosal Projection Neuron Development and Connectivity

Cited2 gene controls pluripotency and cardiomyocyte differentiation of murine embryonic stem cells through Oct4 gene

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

Cited2 is required for fetal lung maturation

Cited2 is required for the maintenance of glycolytic metabolism in adult hematopoietic stem cells

Cited2 is required for the proper formation of the hyaloid vasculature and for lens morphogenesis

Cited2 is required in trophoblasts for correct placental capillary patterning

Cited2, a coactivator of HNF4alpha, is essential for liver development

Cited2, a transcriptional modulator protein, regulates metabolism in murine embryonic stem cells

Cloning of mouse Cited4, a member of the CITED family p300/CBP-binding transcriptional coactivators: induced expression in mammary epithelial cells

Combinatorial signaling in the heart orchestrates cardiac induction, lineage specification and chamber formation.

Complex SUMO-1 regulation of cardiac transcription factor Nkx2-5

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.

Conditional deletion of Cited2 results in defective corneal epithelial morphogenesis and maintenance.

Cooperation between somatic Ikaros and Notch1 mutations at the inception of T-ALL

Coordination of skeletal muscle gene expression occurs late in mammalian development

Cyclical expression of the Notch/Wnt regulator Nrarp requires modulation by Dll3 in somitogenesis

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.

Deletion of HIF-1α partially rescues the abnormal hyaloid vascular system in Cited2 conditional knockout mouse eyes ⬇️

Developmental regulation of Notch signaling genes in the embryonic pituitary: Prop1 deficiency affects Notch2 expression

Diseases of development: leveraging developmental biology to understand human disease

Disruption of the somitic molecular clock causes abnormal vertebral segmentation

Divergent functions and distinct localization of the Notch ligands DLL1 and DLL3 in vivo

Diverse requirements for Notch signalling in mammals

Dll3 andNotch1 genetic interactions model axial segmental and craniofacial malformations of human birth defects

Dll3 andNotch1 genetic interactions model axial segmental and craniofacial malformations of human birth defects

Dll3 pudgy mutation differentially disrupts dynamic expression of somite genes

Dynamic expression patterns of the pudgy/spondylocostal dysostosis gene Dll3 in the developing nervous system

Edd, the Murine Ortholog of the hyperplastic discs (hyd) Gene, Is Essential for Yolk Sac Vascularization and Chorioallantoic Fusion.

Edd, the murine hyperplastic disc gene, is essential for yolk sac vascularization and chorioallantoic fusion

Evolution of distinct EGF domains with specific functions

Folic acid prevents exencephaly in Cited2 deficient mice

Four-Generation Family With Ebstein Anomaly Highlights Future Challenges in Congenital Heart Disease Genetics.

Functional characterisation of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease

Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants

Gene-environment interaction demonstrates the vulnerability of the embryonic heart.

Gene-environment interaction impacts on heart development and embryo survival

Generation of conditional Cited2 null alleles

Genetic and Environmental Interaction in Malformation of the Vertebral Column

Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease

Gestational stress induces the unfolded protein response, resulting in heart defects

Gonadal defects in Cited2-mutant mice indicate a role for SF1 in both testis and ovary differentiation

HIF-1α deletion partially rescues defects of hematopoietic stem cell quiescence caused by Cited2 deficiency

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease

Insulin Downregulates the Transcriptional Coregulator CITED2, an Inhibitor of Proangiogenic Function in Endothelial Cells.

KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations

Loss of Cited2 affects trophoblast formation and vascularization of the mouse placenta

Loss of Cited2 causes congenital heart disease by perturbing left-right patterning of the body axis

Mig-6 regulates endometrial genes involved in cell cycle and progesterone signaling.

Molecular diagnosis of vertebral segmentation disorders in humans

Msg1 and Mrg1, founding members of a gene family, show distinct patterns of gene expression during mouse embryogenesis.

Murine T-box transcription factor Tbx20 acts as a repressor during heart development, and is essential for adult heart integrity, function and adaptation

Mutated MESP2 causes spondylocostal dysostosis in humans

Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus

Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis