Gene environment interactions in the etiology of neural tube defects
RH Finnell, CD Caiaffa, SE Kim, Y Lei, J Steele… - Frontiers in …, 2021 - frontiersin.org
Human structural congenital malformations are the leading cause of infant mortality in the
United States. Estimates from the United States Center for Disease Control and Prevention …
United States. Estimates from the United States Center for Disease Control and Prevention …
Unraveling the complex genetics of neural tube defects: From biological models to human genomics and back
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 …
there is a proven‐effective intervention, folic acid (FA); however, further methods of …
Multicellular modeling of ciliopathy by combining iPS cells and microfluidic airway-on-a-chip technology
N Sone, S Konishi, K Igura, K Tamai, S Ikeo… - Science translational …, 2021 - science.org
Mucociliary clearance is an essential lung function that facilitates the removal of inhaled
pathogens and foreign matter unidirectionally from the airway tract and is innately achieved …
pathogens and foreign matter unidirectionally from the airway tract and is innately achieved …
Regulation of Wnt/PCP signaling through p97/VCP-KBTBD7–mediated Vangl ubiquitination and endoplasmic reticulum–associated degradation
D Feng, J Wang, W Yang, J Li, X Lin, F Zha, X Wang… - Science …, 2021 - science.org
The four-pass transmembrane proteins Vangl1 and Vangl2 are dedicated core components
of Wnt/planar cell polarity (Wnt/PCP) signaling that critically regulate polarized cell …
of Wnt/planar cell polarity (Wnt/PCP) signaling that critically regulate polarized cell …
[HTML][HTML] Organoids as a new model system to study neural tube defects
Y Wu, S Peng, RH Finnell, Y Zheng - FASEB journal: official …, 2021 - ncbi.nlm.nih.gov
The neural tube is the first critically important structure that develops in the embryo. It serves
as the primordium of the central nervous system; therefore, the proper formation of the …
as the primordium of the central nervous system; therefore, the proper formation of the …
Constitutive activation of β-catenin in odontoblasts induces aberrant pulp calcification in mouse incisors
S Deng, L Fan, Y Wang, Q Zhang - Journal of Molecular Histology, 2021 - Springer
During dentin formation, odontoblast polarization ensures that odontoblasts directionally
secrete dentin matrix protein, leading to tubular dentin formation; however, little is known …
secrete dentin matrix protein, leading to tubular dentin formation; however, little is known …
[PDF][PDF] Deletions in VANGL1 are a risk factor for antibody-mediated kidney disease
SH Jiang, S Mercan, I Papa, M Moldovan… - Cell Reports …, 2021 - cell.com
We identify an intronic deletion in VANGL1 that predisposes to renal injury in high risk
populations through a kidney-intrinsic process. Half of all SLE patients develop nephritis, yet …
populations through a kidney-intrinsic process. Half of all SLE patients develop nephritis, yet …
A case of anencephaly in an Unbooked Primipara diagnosed at 35 weeks gestation
AI Jumbo, EI Nonye-Enyidah - World Journal of Advanced Research and …, 2021 - wjarr.com
Background: Anencephaly is a rare but lethal congenital anomaly of the neural tube. Ideally,
the diagnosis is made early in pregnancy and the pregnancy is usually terminated. This is to …
the diagnosis is made early in pregnancy and the pregnancy is usually terminated. This is to …
The VANGL1 P384R variant cause both neural tube defect and Klippel‐Feil syndrome
C Cheng, S Zhao, X Zhu, F Yang… - … Genetics & Genomic …, 2021 - Wiley Online Library
Background Neural tube defect (NTD) is a common birth defect causing much death in the
world. Variants in VANGL1 lead to NTD and caudal regression syndrome. NTD displays a …
world. Variants in VANGL1 lead to NTD and caudal regression syndrome. NTD displays a …
Whole-genome sequencing to investigate a possible genetic basis of perosomus elumbis in a calf resulting from a consanguineous mating
AM Barber, A Helms, R Thompson… - Translational Animal …, 2021 - academic.oup.com
Perosomus elumbis (PE) is a lethal, congenital defect marked by aplasia of the lumbar and
sacral spine and spinal cord. Contracture of the hind limbs is also commonly observed in …
sacral spine and spinal cord. Contracture of the hind limbs is also commonly observed in …