Maternal fumonisin exposure and risk for neural tube defects: Mechanisms in an in vivo mouse model

2005 ◽  
Vol 73 (7) ◽  
pp. 487-497 ◽  
Author(s):  
Janee Gelineau-van Waes ◽  
Lois Starr ◽  
Joyce Maddox ◽  
Francisco Aleman ◽  
Kenneth A. Voss ◽  
...  
Keyword(s):  
Mouse Model ◽  
Neural Tube ◽  
Neural Tube Defects

scholarly journals Arsenate-induced maternal glucose intolerance and neural tube defects in a mouse model

2009 ◽  
Vol 239 (1) ◽  
pp. 29-36 ◽  
Author(s):  
Denise S. Hill ◽  
Bogdan J. Wlodarczyk ◽  
Laura E. Mitchell ◽  
Richard H. Finnell
Keyword(s):  
Mouse Model ◽  
Glucose Intolerance ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Maternal Glucose

Neural tube development in mutant (curly tail) and normal mouse embryos: the timing of posterior neuropore closure in vivo and in vitro

Development ◽  
1982 ◽  
Vol 69 (1) ◽  
pp. 151-167
Author(s):  
A. J. Copp ◽  
M. J. Seller ◽  
P. E. Polani
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Mouse Embryos ◽  
Injection Technique ◽  
Posterior Neuropore ◽  
Curly Tail ◽  
Mechanisms Of Development ◽  
Delayed Closure

A dye-injection technique has been used to determine the developmental stage at which posterior neuropore (PNP) closure occurs in normal and mutant curly tail mouse embryos. In vivo, the majority of non-mutant embryos undergo PNP closure between 30 and 34 somites whereas approximately 50% of all mutant embryos show delayed closure, and around 20% maintain an open PNP even at advanced stages of development. A similar result has been found for embryos developing in vitro from the headfold stage. Later in development, 50–60% of mutant embryos in vivo develop tail flexion defects, and 15–20% lumbosacral myeloschisis. This supports the view that delayed PNP closure is the main developmental lesion leading to the appearance of caudal neural tube defects in curly tail mice. The neural tube is closed in the region of tail flexion defects, but it is locally overexpanded and abnormal in position. The significance of these observations is discussed in relation to possible mechanisms of development of lumbosacral and caudal neural tube defects. This paper constitutes the first demonstration of the development of a genetically induced malformation in vitro.

Failure of homocysteine to induce neural tube defects in a mouse model

2006 ◽  
Vol 77 (2) ◽  
pp. 89-94 ◽  
Author(s):  
Gregory D. Bennett ◽  
Janee VanWaes ◽  
Kristine Moser ◽  
Tammy Chaudoin ◽  
Lois Starr ◽  
...  
Keyword(s):  
Mouse Model ◽  
Neural Tube ◽  
Neural Tube Defects

scholarly journals Valproic Acid–Induced Deregulation In Vitro of Genes Associated In Vivo with Neural Tube Defects

2009 ◽  
Vol 108 (1) ◽  
pp. 132-148 ◽  
Author(s):  
Måns Jergil ◽  
Kim Kultima ◽  
Anne-Lee Gustafson ◽  
Lennart Dencker ◽  
Michael Stigson
Keyword(s):  
Valproic Acid ◽  
Neural Tube ◽  
Neural Tube Defects

scholarly journals Maternal dietary uridine causes, and deoxyuridine prevents, neural tube closure defects in a mouse model of folate-responsive neural tube defects

2015 ◽  
Vol 101 (4) ◽  
pp. 860-869 ◽  
Author(s):  
Lucia Martiniova ◽  
Martha S Field ◽  
Julia L Finkelstein ◽  
Cheryll A Perry ◽  
Patrick J Stover
Keyword(s):  
Mouse Model ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Neural Tube Closure ◽  
Tube Closure ◽  
Neural Tube Closure Defects

scholarly journals Formate supplementation enhances folate-dependent nucleotide biosynthesis and prevents spina bifida in a mouse model of folic acid-resistant neural tube defects

Biochimie ◽  
2016 ◽  
Vol 126 ◽  
pp. 63-70 ◽  
Author(s):  
Sonia Sudiwala ◽  
Sandra C.P. De Castro ◽  
Kit-Yi Leung ◽  
John T. Brosnan ◽  
Margaret E. Brosnan ◽  
...  
Keyword(s):  
Folic Acid ◽  
Spina Bifida ◽  
Mouse Model ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Nucleotide Biosynthesis

Genetic analysis of rare coding mutations of CELSR1–3 in congenital heart and neural tube defects in Chinese people

2016 ◽  
Vol 130 (24) ◽  
pp. 2329-2340 ◽  
Author(s):  
Xiaojin Qiao ◽  
Yahui Liu ◽  
Peiqiang Li ◽  
Zhongzhong Chen ◽  
Huili Li ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Congenital Heart ◽  
Planar Cell Polarity ◽  
Heart Defects ◽  
In Vitro Assays ◽  
Organ Systems ◽  
Canonical Wnt

The planar cell polarity (PCP) pathway is critical for proper embryonic development of the neural tube and heart. Mutations in these genes have previously been implicated in the pathogenesis of neural tube defects (NTDs), but not in congenital heart defects (CHDs) in humans. We systematically identified the mutation patterns of CELSR1–3, one family of the core PCP genes, in human cohorts composed of 352 individuals with NTDs, 412 with CHDs and matched controls. A total of 72 disease-specific, rare, novel, coding mutations were identified, of which 37 were identified in patients with CHDs and 36 in patients with NTDs. Most of these mutations differed between the two cohorts, because only one novel missense mutation in CELSR1 (c.2609G>A p.P870L) was identified in both NTD and CHD patients. Both in vivo and in vitro assays revealed that CELSR1 P870L is a gain-of-function mutation. It up-regulates not only the PCP pathway, but also canonical WNT signalling in cells, and also induces both NTDs and CHDs in zebrafish embryos. As almost equal numbers of mutations were identified in each cohort, our results provided the first evidence that mutations in CELSR genes are as likely to be associated with CHDs as with NTDs, although the specific mutations differ between the two cohorts. Such differences in mutation panels suggested that CELSRs [cadherin, EGF (epidermal growth factor), LAG (laminin A G-type repeat), seven-pass receptors)] might be regulated differently during the development of these two organ systems.

scholarly journals Mutations associated with human neural tube defects display disrupted planar cell polarity in Drosophila

eLife ◽  
2020 ◽  
Vol 9 ◽  
Author(s):  
Ashley C Humphries ◽  
Sonali Narang ◽  
Marek Mlodzik
Keyword(s):  
Cell Polarity ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Developmental Disorders ◽  
Planar Cell Polarity ◽  
Causative Factor ◽  
Limited Data ◽  
Post Translational Modification ◽  
Pcp Signaling

Planar cell polarity (PCP) and neural tube defects (NTDs) are linked, with a subset of NTD patients found to harbor mutations in PCP genes, but there is limited data on whether these mutations disrupt PCP signaling in vivo. The core PCP gene Van Gogh (Vang), Vangl1/2 in mammals, is the most specific for PCP. We thus addressed potential causality of NTD-associated Vangl1/2 mutations, from either mouse or human patients, in Drosophila allowing intricate analysis of the PCP pathway. Introducing the respective mammalian mutations into Drosophila Vang revealed defective phenotypic and functional behaviors, with changes to Vang localization, post-translational modification, and mechanistic function, such as its ability to interact with PCP effectors. Our findings provide mechanistic insight into how different mammalian mutations contribute to developmental disorders and strengthen the link between PCP and NTD. Importantly, analyses of the human mutations revealed that each is a causative factor for the associated NTD.

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