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Genetics and development of neural tube defects

The Journal of pathology, 2010-01, Vol.220 (2), p.217-230

2010

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Cell non-autonomy amplifies disruption of neurulation by mosaic Vangl2 deletion in mice

Nature communications, 2021-02, Vol.12 (1), p.1159-17, Article 1159

2021

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Neurulation in the cranial region – normal and abnormal

Journal of anatomy, 2005-11, Vol.207 (5), p.623-635

Copp, Andrew J.

2005

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Convergent extension, planar-cell-polarity signalling and initiation of mouse neural tube closure

Development (Cambridge), 2007-02, Vol.134 (4), p.789-799

2007

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Vangl2 disruption alters the biomechanics of late spinal neurulation leading to spina bifida in mouse embryos

Disease models & mechanisms, 2018-03, Vol.11 (3)

2018

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Dual mechanism underlying failure of neural tube closure in the Zic2 mutant mouse

Disease models & mechanisms, 2023-03, Vol.16 (3)

2023

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Novel mouse model of encephalocele: post-neurulation origin and relationship to open neural tube defects

Disease models & mechanisms, 2019-11, Vol.12 (11)

2019

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Vangl2-environment interaction causes severe neural tube defects, without abnormal neuroepithelial convergent extension

Disease models & mechanisms, 2022-01, Vol.15 (1)

2022

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Cellular mechanisms underlying Pax3- related neural tube defects and their prevention by folic acid

Disease models & mechanisms, 2019-11, Vol.12 (11)

2019

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Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

Human molecular genetics, 2012-04, Vol.21 (7), p.1496-1503

2012

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Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice

Disease models & mechanisms, 2014-10, Vol.7 (10), p.1153-1163

2014

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Lamin b1 polymorphism influences morphology of the nuclear envelope, cell cycle progression, and risk of neural tube defects in mice

PLoS genetics, 2012-11, Vol.8 (11), p.e1003059-e1003059

2012

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Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non‐ketotic hyperglycinemia

Journal of inherited metabolic disease, 2020-11, Vol.43 (6), p.1186-1198

2020

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Deciphering the Mechanisms of Developmental Disorders (DMDD): a new programme for phenotyping embryonic lethal mice

Disease models & mechanisms, 2013-05, Vol.6 (3), p.562-566

2013

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Bloomsbury report on mouse embryo phenotyping: recommendations from the IMPC workshop on embryonic lethal screening

Disease models & mechanisms, 2013-05, Vol.6 (3), p.571-579

2013

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Disruption of Planar Cell Polarity Signaling Results in Congenital Heart Defects and Cardiomyopathy Attributable to Early Cardiomyocyte Disorganization

Circulation research, 2007-07, Vol.101 (2), p.137-145

2007

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Embryonic Folate Metabolism and Mouse Neural Tube Defects

Science (American Association for the Advancement of Science), 1998-06, Vol.280 (5372), p.2107-2109

1998

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Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model

Human molecular genetics, 2007-11, Vol.16 (21), p.2640-2646

2007

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Genetic interaction of Pax3 mutation and canonical Wnt signaling modulates neural tube defects and neural crest abnormalities

Genesis (New York, N.Y. : 2000), 2021-11, Vol.59 (11), p.e23445-n/a

2021

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Grainyhead genes and mammalian neural tube closure

Birth defects research. A Clinical and molecular teratology, 2008-10, Vol.82 (10), p.728-735

2008

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Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis

Human mutation, 2012-02, Vol.33 (2), p.440-447

2012

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A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele

Human molecular genetics, 2023-08, Vol.32 (17), p.2681-2692

2023

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The genetic basis of mammalian neurulation

Nature reviews. Genetics, 2003-10, Vol.4 (10), p.784-793

2003

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Impaired folate 1-carbon metabolism causes formate-preventable hydrocephalus in glycine decarboxylase-deficient mice

The Journal of clinical investigation, 2020-03, Vol.130 (3), p.1446-1452

2020

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Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

Nature genetics, 2005-10, Vol.37 (10), p.1135-1140

2005

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Genetics and development of neural tube defects

Cell non-autonomy amplifies disruption of neurulation by mosaic Vangl2 deletion in mice

Neurulation in the cranial region – normal and abnormal

Convergent extension, planar-cell-polarity signalling and initiation of mouse neural tube closure

Vangl2 disruption alters the biomechanics of late spinal neurulation leading to spina bifida in mouse embryos

Dual mechanism underlying failure of neural tube closure in the Zic2 mutant mouse

Novel mouse model of encephalocele: post-neurulation origin and relationship to open neural tube defects

Vangl2-environment interaction causes severe neural tube defects, without abnormal neuroepithelial convergent extension

Cellular mechanisms underlying Pax3- related neural tube defects and their prevention by folic acid

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice

Lamin b1 polymorphism influences morphology of the nuclear envelope, cell cycle progression, and risk of neural tube defects in mice

Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non‐ketotic hyperglycinemia

Deciphering the Mechanisms of Developmental Disorders (DMDD): a new programme for phenotyping embryonic lethal mice

Bloomsbury report on mouse embryo phenotyping: recommendations from the IMPC workshop on embryonic lethal screening

Disruption of Planar Cell Polarity Signaling Results in Congenital Heart Defects and Cardiomyopathy Attributable to Early Cardiomyocyte Disorganization

Embryonic Folate Metabolism and Mouse Neural Tube Defects

Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model

Genetic interaction of Pax3 mutation and canonical Wnt signaling modulates neural tube defects and neural crest abnormalities

Grainyhead genes and mammalian neural tube closure

Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis

A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele

The genetic basis of mammalian neurulation

Impaired folate 1-carbon metabolism causes formate-preventable hydrocephalus in glycine decarboxylase-deficient mice

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

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