Spina bifida

BJ Iskandar, RH Finnell - New England Journal of Medicine, 2022 - Mass Medical Soc
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Self-organizing models of human trunk organogenesis recapitulate spinal cord and spine co-morphogenesis

S Gribaudo, R Robert, B van Sambeek, C Mirdass… - Nature …, 2023 - nature.com
Integrated in vitro models of human organogenesis are needed to elucidate the multi-
systemic events underlying development and disease. Here we report the generation of …

Guideline no. 427: folic acid and multivitamin supplementation for prevention of folic acid–sensitive congenital anomalies

RD Wilson, DL O'Connor - Journal of Obstetrics and Gynaecology Canada, 2022 - Elsevier
Objective To provide updated guidance on pre-conception folic acid and multivitamin
supplementation for primary and secondary (recurrence) prevention of neural tube defects …

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 …

Impact of Spina Bifida on Sleep Quality: Current Insights

M Gunnett, BG Rocque, A Nourani… - Nature and Science of …, 2023 - Taylor & Francis
Spina bifida (SB) is one of the most common birth defects in children. The care for patients
with SB continues to evolve, and there has been notable improvement in survival outcomes …

The loop-tail mouse model displays open and closed caudal neural tube defects

B Fernández-Santos, M Reyes-Corral… - Disease Models & …, 2023 - journals.biologists.com
Neural tube defects (NTDs) are the second most common cause of congenital malformations
and are often studied in animal models. Loop-tail (Lp) mice carry a mutation in the Vangl2 …

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 …

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 …

Genome‐wide analysis of spina bifida risk variants in a case–control study from Bangladesh

G Tindula, B Issac, SK Mukherjee… - Birth Defects …, 2024 - Wiley Online Library
Background Human studies of genetic risk factors for neural tube defects, severe birth
defects associated with long‐term health consequences in surviving children, have …

Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects

E Oxman, H Li, HY Wang, IE Zohn - Human Genetics, 2024 - Springer
Neural tube defects (NTDs) are severe malformations of the central nervous system that
arise from failure of neural tube closure. HECTD1 is an E3 ubiquitin ligase required for …