Unraveling the complex genetics of neural tube defects: From biological models to human genomics and back

P Wolujewicz, JW Steele, JA Kaltschmidt, RH Finnell… - Genesis, 2021 - Wiley Online Library
Neural tube defects (NTDs) are a classic example of preventable birth defects for which
there is a proven‐effective intervention, folic acid (FA); however, further methods of …

Proposal for standardized prenatal assessment of fetal open dysraphisms by the European reference network for Intellectual disability, TeleHealth, Autism and …

L Guilbaud, E Carreras, C Garel, N Maiz… - Prenatal …, 2024 - Wiley Online Library
Open dysraphisms, that is, myelomeningocele and myeloschisis, are rare diseases
associated with a risk of severe disability, including lower limb motor and sensory deficiency …

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

Z Crane-Smith, SCP De Castro… - Human Molecular …, 2023 - academic.oup.com
Orofacial clefts, including cleft lip and palate (CL/P) and neural tube defects (NTDs) are
among the most common congenital anomalies, but knowledge of the genetic basis of these …

Gene–environment interactions underlying the etiology of neural tube defects

CD Caiaffa, CSR Fonteles, L Yunping… - Current Topics in …, 2023 - Elsevier
Neural tube defects (NTDs) consist of severe structural malformations of the brain and spinal
cord and are the second most common structural birth defect in humans, accounting for …

Systems biology analysis of human genomes points to key pathways conferring spina bifida risk

V Aguiar-Pulido, P Wolujewicz… - Proceedings of the …, 2021 - National Acad Sciences
Spina bifida (SB) is a debilitating birth defect caused by multiple gene and environment
interactions. Though SB shows non-Mendelian inheritance, genetic factors contribute to an …

Genetic association analysis of copy number variations for meat quality in beef cattle

J Wu, T Wu, X Xie, Q Niu, Z Zhao, B Zhu, Y Chen… - Foods, 2023 - mdpi.com
Meat quality is an economically important trait for global food production. Copy number
variations (CNVs) have been previously implicated in elucidating the genetic basis of …

ApoM maintains cellular homeostasis between mitophagy and apoptosis by affecting the stability of Nnt mRNA through the Zic3-ApoM-Elavl2-Nnt axis during neural …

Q Liu, D Liu, Y Wang, X Wei, W Ma, H Gu, S Jia… - Cell Death & …, 2025 - nature.com
Research on the aetiology of neural tube defects (NTDs) has made progress in recent years.
However, the molecular mechanism of apolipoproteins underlying NTDs development …

Risk of meningomyelocele mediated by the common 22q11. 2 deletion

KI Vong, S Lee, KS Au, TB Crowley, V Capra, J Martino… - Science, 2024 - science.org
Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the
most frequent structural birth defect of the central nervous system. We assembled the Spina …

Alcohol induces neural tube defects by reducing retinoic acid signaling and promoting neural plate expansion

T Edri, D Cohen, Y Shabtai, A Fainsod - Frontiers in Cell and …, 2023 - frontiersin.org
Introduction: Neural tube defects (NTDs) are among the most debilitating and common
developmental defects in humans. The induction of NTDs has been attributed to abnormal …

Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models

C Wang, S Seltzsam, B Zheng, CHW Wu… - American Journal of …, 2022 - Wiley Online Library
Spina bifida (SB) is the second most common nonlethal congenital malformation. The
existence of monogenic SB mouse models and human monogenic syndromes with SB …