[HTML][HTML] Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration

KS Au, L Hebert, P Hillman, C Baker, MR Brown… - Scientific reports, 2021 - nature.com
Myelomeningocele (MMC) affects one in 1000 newborns annually worldwide and each
surviving child faces tremendous lifetime medical and caregiving burdens. Both genetic and …

Myelomeningocele genotype–phenotype correlation findings in cilia, HH, PCP, and Wnt signaling pathways

G Ortiz‐Cruz, A Aguayo‐Gómez… - Birth Defects …, 2021 - Wiley Online Library
Background Myelomeningocele (MMC) is the most severe and frequent type of spina bifida.
Its etiology remains poorly understood. The Hedgehog (Hh), Wnt, and planar cell polarity …

[HTML][HTML] Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients

L Hebert, P Hillman, C Baker, M Brown, A Ashley-Koch… - Plos one, 2020 - journals.plos.org
Genes in the noncanonical WNT signaling pathway controlling planar cell polarity have
been linked to the neural tube defect myelomeningocele. We hypothesized that some genes …

Association of copper‐zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) genes with nonsyndromic myelomeningocele

BA Kase, H Northrup, AC Morrison… - … Research Part A …, 2012 - Wiley Online Library
BACKGROUND A common and severe neural tube defect (NTD) phenotype,
myelomeningocele (MM), results from the defective closure of the caudal end of the neural …

Loss-of-function de novo mutations play an important role in severe human neural tube defects

P Lemay, MC Guyot, É Tremblay… - Journal of medical …, 2015 - jmg.bmj.com
Background Neural tube defects (NTDs) are very common and severe birth defects that are
caused by failure of neural tube closure and that have a complex aetiology. Anencephaly …

Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one‐carbon metabolism networks

P Hillman, C Baker, L Hebert, M Brown… - … Genetics & Genomic …, 2020 - Wiley Online Library
Abstract Background Neural tube defects (NTDs) are the second most common complex
birth defect, yet, our understanding of the genetic contribution to their development remains …

Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene

AG Bassuk, LB Muthuswamy, R Boland… - Human molecular …, 2013 - academic.oup.com
Neural tube defects (NTDs) are common birth defects of complex etiology. Family and
population-based studies have confirmed a genetic component to NTDs. However, despite …

Amniotic fluid transcriptomics reflects novel disease mechanisms in fetuses with myelomeningocele

T Tarui, A Kim, A Flake, L McClain, JD Stratigis… - American journal of …, 2017 - Elsevier
Background Cell-free RNA in amniotic fluid supernatant reflects developmental changes in
gene expression in the living fetus, which includes genes that are specific to the central …

Novel single nucleotide polymorphisms in the superoxide dismutase 1 and 2 genes among children with myelomeningocele

BA Kase, H Northrup, KS Au - American journal of obstetrics and …, 2013 - Elsevier
Objective Excessive oxidative stress has been demonstrated as a mechanism for neural
tube defects (NTDs). The current exploratory study sought to examine sequence variations …

Spina bifida

AJ Copp, NS Adzick, LS Chitty, JM Fletcher… - Nature reviews Disease …, 2015 - nature.com
Spina bifida is a birth defect in which the vertebral column is open, often with spinal cord
involvement. The most clinically significant subtype is myelomeningocele (open spina …