Search Results - "Savery, Dawn"
-
1
Mechanical loading of cranial joints minimizes the craniofacial phenotype in Crouzon syndrome
Published in Scientific reports (11-06-2022)“…Children with syndromic forms of craniosynostosis undergo a plethora of surgical interventions to resolve the clinical features caused by the premature fusion…”
Get full text
Journal Article -
2
Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice
Published in Nature communications (04-03-2015)“…Glycine decarboxylase (GLDC) acts in the glycine cleavage system to decarboxylate glycine and transfer a one-carbon unit into folate one-carbon metabolism…”
Get full text
Journal Article -
3
Partitioning of One-Carbon Units in Folate and Methionine Metabolism Is Essential for Neural Tube Closure
Published in Cell reports (Cambridge) (14-11-2017)“…Abnormal folate one-carbon metabolism (FOCM) is implicated in neural tube defects (NTDs), severe malformations of the nervous system. MTHFR mediates…”
Get full text
Journal Article -
4
Rho-kinase-dependent actin turnover and actomyosin disassembly are necessary for mouse spinal neural tube closure
Published in Journal of cell science (15-07-2015)“…The cytoskeleton is widely considered essential for neurulation, yet the mouse spinal neural tube can close despite genetic and non-genetic disruption of the…”
Get full text
Journal Article -
5
Convergent extension, planar-cell-polarity signalling and initiation of mouse neural tube closure
Published in Development (Cambridge) (15-02-2007)“…Planar-cell-polarity (PCP) signalling is necessary for initiation of neural tube closure in higher vertebrates. In mice with PCP gene mutations, a broad…”
Get full text
Journal Article -
6
Vangl2 disruption alters the biomechanics of late spinal neurulation leading to spina bifida in mouse embryos
Published in Disease models & mechanisms (01-03-2018)“…Human mutations in the planar cell polarity component VANGL2 are associated with the neural tube defect spina bifida. Homozygous Vangl2 mutation in mice…”
Get full text
Journal Article -
7
Dual mechanism underlying failure of neural tube closure in the Zic2 mutant mouse
Published in Disease models & mechanisms (01-03-2023)“…Understanding the molecular mechanisms that lead to birth defects is an important step towards improved primary prevention. Mouse embryos homozygous for the…”
Get full text
Journal Article -
8
Vangl2-environment interaction causes severe neural tube defects, without abnormal neuroepithelial convergent extension
Published in Disease models & mechanisms (01-01-2022)“…Planar cell polarity (PCP) signalling is vital for initiation of mouse neurulation, with diminished convergent extension (CE) cell movements leading to…”
Get full text
Journal Article -
9
Novel mouse model of encephalocele: post-neurulation origin and relationship to open neural tube defects
Published in Disease models & mechanisms (14-11-2019)“…Encephalocele is a clinically important birth defect that can lead to severe disability in childhood and beyond. The embryonic and early fetal pathogenesis of…”
Get full text
Journal Article -
10
Cellular mechanisms underlying Pax3- related neural tube defects and their prevention by folic acid
Published in Disease models & mechanisms (22-11-2019)“…Neural tube defects (NTDs), including spina bifida and anencephaly, are among the most common birth defects worldwide, but their underlying genetic and…”
Get full text
Journal Article -
11
Regulation of cell protrusions by small GTPases during fusion of the neural folds
Published in eLife (26-04-2016)“…Epithelial fusion is a crucial process in embryonic development, and its failure underlies several clinically important birth defects. For example, failure of…”
Get full text
Journal Article -
12
Apoptosis is not required for mammalian neural tube closure
Published in Proceedings of the National Academy of Sciences - PNAS (19-05-2009)“…Apoptotic cell death occurs in many tissues during embryonic development and appears to be essential for processes including digit formation and cardiac…”
Get full text
Journal Article -
13
Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non‐ketotic hyperglycinemia
Published in Journal of inherited metabolic disease (01-11-2020)“…Glycine abundance is modulated in a tissue‐specific manner by use in biosynthetic reactions, catabolism by the glycine cleavage system (GCS), and excretion via…”
Get full text
Journal Article -
14
The non-canonical Wnt-PCP pathway shapes the caudal neural plate
Published in Development (Cambridge) (01-01-2018)“…The last stage of neural tube (NT) formation involves closure of the caudal neural plate (NP), an embryonic structure formed by neuromesodermal progenitors and…”
Get full text
Journal Article -
15
In amnio MRI of mouse embryos
Published in PloS one (15-10-2014)“…Mouse embryo imaging is conventionally carried out on ex vivo embryos excised from the amniotic sac, omitting vital structures and abnormalities external to…”
Get full text
Journal Article -
16
Evidence of functional redundancy between MID proteins: implications for the presentation of Opitz syndrome
Published in Developmental biology (15-01-2005)“…Opitz G/BBB syndrome (OS) is a congenital defect characterized by hypertelorism and hypospadias, but additional midline malformations are also common in OS…”
Get full text
Journal Article -
17
Biomechanical coupling facilitates spinal neural tube closure in mouse embryos
Published in Proceedings of the National Academy of Sciences - PNAS (27-06-2017)“…Neural tube (NT) formation in the spinal region of the mammalian embryo involves a wave of “zippering” that passes down the elongating spinal axis, uniting the…”
Get full text
Journal Article -
18
Genetic interaction of Pax3 mutation and canonical Wnt signaling modulates neural tube defects and neural crest abnormalities
Published in Genesis (New York, N.Y. : 2000) (01-11-2021)“…Summary Mouse models provide opportunities to investigate genetic interactions that cause or modify the frequency of neural tube defects (NTDs). Mutation of…”
Get full text
Journal Article -
19
Integrin-Mediated Focal Anchorage Drives Epithelial Zippering during Mouse Neural Tube Closure
Published in Developmental cell (10-02-2020)“…Epithelial fusion is a key process of morphogenesis by which tissue connectivity is established between adjacent epithelial sheets. A striking and poorly…”
Get full text
Journal Article -
20
Association of embryonic inositol status with susceptibility to neural tube defects, metabolite profile, and maternal inositol intake
Published in The FASEB journal (15-06-2024)“…Maternal nutrition contributes to gene–environment interactions that influence susceptibility to common congenital anomalies such as neural tube defects…”
Get full text
Journal Article