Lista de obras - Gavin Chapman - Dominio Público Uruguay

A CADASIL-mutated Notch 3 receptor exhibits impaired intracellular trafficking and maturation but normal ligand-induced signaling.

artículo científico publicado en 2002

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

Cited2 is required in trophoblasts for correct placental capillary patterning

artículo científico publicado en 2014

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

scientific article published on 15 August 2011

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

Differential, dominant activation and inhibition of Notch signalling and APP cleavage by truncations of PSEN1 in human disease

artículo científico publicado en 2013

Functional Notch signaling is required for BMP4-induced inhibition of myogenic differentiation.

artículo científico publicado en 2003

Gene-environment interaction impacts on heart development and embryo survival

scientific article published on 20 February 2019

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

artículo científico publicado en 2010

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

artículo científico publicado en 2006

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

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

Notch signaling in development and disease.

artículo científico publicado en 2004

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

Recording Notch signaling in real time.

artículo científico publicado en 2006

Sequence and evolutionary conservation of the murine Gbx-2 homeobox gene

artículo científico publicado en 1995

The mouse homeobox gene, Gbx2: genomic organization and expression in pluripotent cells in vitro and in vivo.

artículo científico publicado en 1997

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

Lista de obras de Gavin Chapman

A CADASIL-mutated Notch 3 receptor exhibits impaired intracellular trafficking and maturation but normal ligand-induced signaling.

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.

Cited2 is required in trophoblasts for correct placental capillary patterning

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

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

Differential, dominant activation and inhibition of Notch signalling and APP cleavage by truncations of PSEN1 in human disease

Functional Notch signaling is required for BMP4-induced inhibition of myogenic differentiation.

Gene-environment interaction impacts on heart development and embryo survival

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

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

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

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

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

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

Notch signaling in development and disease.

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

Notch4 reveals a novel mechanism regulating Notch signal transduction

Recording Notch signaling in real time.

Sequence and evolutionary conservation of the murine Gbx-2 homeobox gene

The mouse homeobox gene, Gbx2: genomic organization and expression in pluripotent cells in vitro and in vivo.

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

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