[HTML][HTML] Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration
Myelomeningocele (MMC) affects one in 1000 newborns annually worldwide and each
surviving child faces tremendous lifetime medical and caregiving burdens. Both genetic and …
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 …
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
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 …
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 …
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 …
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
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 …
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 …
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 …
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 …
tube defects (NTDs). The current exploratory study sought to examine sequence variations …
Spina bifida
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 …
involvement. The most clinically significant subtype is myelomeningocele (open spina …