Results 61 to 70 of about 9,343 (179)

Aberrant Gcm1 expression mediates Wnt/β-catenin pathway activation in folate deficiency involved in neural tube defects

open access: yesCell Death and Disease, 2021
Wnt signaling plays a major role in early neural development. An aberrant activation in Wnt/β-catenin pathway causes defective anteroposterior patterning, which results in neural tube closure defects (NTDs).
Jianting Li   +13 more
doaj   +1 more source

A Mechanistic Review of Environmental Stressor to Decode Their Effect on Congenital Malformations: A Developmental Toxicity

open access: yesJournal of Biochemical and Molecular Toxicology, Volume 40, Issue 8, August 2026.
Environmental toxicants may disrupt developmental pathways via strong molecular docking interactions with hub FGF proteins (FGF9 and FGF4) like dibenzo‐p‐dioxin (−7.2 kcal/mol) at the ASN146 residue of FGF9, driving congenital malformations as revealed by PPI networks and toxicity profiling.
Adarsh Kumar Shukla   +3 more
wiley   +1 more source

Research progress on ultrasound and molecular markers for prenatal diagnosis of neural tube defects

open access: yesHeliyon
Neural tube defects (NTDs) are severe congenital anomalies that result from the failure of early neural tube closure during fetal neurogenesis. They are the most common and severe congenital malformations of the central nervous system.
Jiao Yin   +5 more
doaj   +1 more source

Falling Use of Preconception Folic Acid Supplements and Neural Tube Defect Prevention

open access: yes
BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
Danielle Schoenaker   +4 more
wiley   +1 more source

Detection and Clinical Significance of Chromosomal Mosaicism in Prenatal Diagnosis: A Retrospective Study From a Prenatal Diagnosis Center

open access: yesJournal of Clinical Laboratory Analysis, Volume 40, Issue 16, August 2026.
This retrospective study of 79 prenatal mosaicism cases found that noninvasive prenatal testing (NIPT) had significantly higher sensitivity (90.74%) than first‐ and second‐trimester serum screening, while chromosomal microarray analysis (CMA) showed better concordance with karyotyping (90.00%) than QF‐PCR (58.21%).
Yuanyuan Pei   +5 more
wiley   +1 more source

Identification of histone acetylation markers in human fetal brains and increased H4K5ac expression in neural tube defects

open access: yesMolecular Genetics & Genomic Medicine, 2019
Background Neural tube defects (NTDs) are severe common birth defects that result from a failure in neural tube closure (NTC). Our previous study has shown that decreased histone methylation altered the regulation of genes linked to NTC.
Dan Li   +5 more
doaj   +1 more source

Craniospinal rachischisis with multiple anomalies in an anencephalic fetus: A rare case report

open access: yesJournal of the Scientific Society, 2014
Neural tube defects (NTDs) are the most common malformations accounting for 0.5-1.3 cases/1000 live births with multifactorial etiology. Anencephaly and craniospinal rachischisis are open NTDs.
Hema Basappa Bannur   +3 more
doaj   +1 more source

Functional Validation of CLDN Variants Identified in a Neural Tube Defect Cohort Demonstrates Their Contribution to Neural Tube Defects

open access: yesFrontiers in Neuroscience, 2020
Neural tube defects (NTDs) are severe malformations of the central nervous system that affect 1–2 individuals per 2,000 births. Their etiology is complex and involves both genetic and environmental factors.
Amanda I. Baumholtz   +6 more
doaj   +1 more source

Abnormal Enteric Nervous System Organization and Gastrointestinal Motility in Mice With Valproic Acid‐Induced Neural Tube Defects

open access: yesNeurogastroenterology &Motility, Volume 38, Issue 6, June 2026.
Gastrointestinal tracts from fetuses with a valproic acid‐induced neural tube defect contain blood. Structurally, the enteric neuronal stripes are thinner with a narrower interstripe distance, leading to an increased number of stripes. Functionally, gastrointestinal motility is abnormal, with increased contraction frequency and increased length of ...
Gabrielle R. Barsh   +2 more
wiley   +1 more source

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