Spina bifida: a review of the genetics, pathophysiology and emerging cellular therapies

AES Hassan, YL Du, SY Lee, A Wang… - Journal of developmental …, 2022 - mdpi.com
Spina bifida is the most common congenital defect of the central nervous system which can
portend lifelong disability to those afflicted. While the complete underpinnings of this disease …

Update on the role of the non-canonical Wnt/planar cell polarity pathway in neural tube defects

M Wang, P de Marco, V Capra, Z Kibar - Cells, 2019 - mdpi.com
Neural tube defects (NTDs), including spina bifida and anencephaly, represent the most
severe and common malformations of the central nervous system affecting 0.7–3 per 1000 …

Human neural tube morphogenesis in vitro by geometric constraints

E Karzbrun, AH Khankhel, HC Megale, SMK Glasauer… - Nature, 2021 - nature.com
Understanding human organ formation is a scientific challenge with far-reaching medical
implications,. Three-dimensional stem-cell cultures have provided insights into human cell …

denovo-db: a compendium of human de novo variants

TN Turner, Q Yi, N Krumm, J Huddleston… - Nucleic acids …, 2017 - academic.oup.com
Whole-exome and whole-genome sequencing have facilitated the large-scale discovery of
de novo variants in human disease. To date, most de novo discovery through next …

Etiology and pathogenesis of hemifacial microsomia

Q Chen, Y Zhao, G Shen, J Dai - Journal of dental research, 2018 - journals.sagepub.com
Hemifacial microsomia (HFM) is a common congenital malformation of the craniofacial
region. There are 3 possible pathogenic models of HFM—vascular abnormality and …

Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans

G Zhao, K Li, B Li, Z Wang, Z Fang, X Wang… - Nucleic acids …, 2020 - academic.oup.com
De novo mutations (DNMs) significantly contribute to sporadic diseases, particularly in
neuropsychiatric disorders. Whole-exome sequencing (WES) and whole-genome …

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 …

A Shared Pathogenic Mechanism for Valproic Acid and SHROOM3 Knockout in a Brain Organoid Model of Neural Tube Defects

TN Takla, J Luo, R Sudyk, J Huang, JC Walker… - Cells, 2023 - mdpi.com
Neural tube defects (NTDs), including anencephaly and spina bifida, are common major
malformations of fetal development resulting from incomplete closure of the neural tube …

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome

MD Saleem - Pediatric dermatology, 2019 - Wiley Online Library
Melanocyte development is orchestrated by a complex interconnecting regulatory network of
genes and synergistic interactions. Piebaldism and Waardenburg syndrome are …

Closing in on mechanisms of open neural tube defects

S Lee, JG Gleeson - Trends in neurosciences, 2020 - cell.com
Neural tube defects (NTDs) represent a failure of the neural plate to complete the
developmental transition to a neural tube. NTDs are the most common birth anomaly of the …