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 …
portend lifelong disability to those afflicted. While the complete underpinnings of this disease …
From Myo-inositol to D-chiro-inositol molecular pathways
AK Kiani, S Paolacci, AE Calogero… - European review for …, 2021 - iris.unimore.it
OBJECTIVE: Inositol is a carbocyclic sugar polyalcohol. By epimerization of its hydroxyl
groups, nine possible stereoisomers can be generated, two of major physiological and …
groups, nine possible stereoisomers can be generated, two of major physiological and …
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes
Background Oral clefts, that is, clefts of the lip and/or cleft palate (CL/P), are the most
common craniofacial birth defects with an approximate incidence of~ 1/700. To date …
common craniofacial birth defects with an approximate incidence of~ 1/700. To date …
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 …
among the most common congenital anomalies, but knowledge of the genetic basis of these …
Grainyhead-like (Grhl) target genes in development and cancer
JG Gasperoni, JN Fuller, C Darido… - International Journal of …, 2022 - mdpi.com
Grainyhead-like (GRHL) factors are essential, highly conserved transcription factors (TFs)
that regulate processes common to both natural cellular behaviours during embryogenesis …
that regulate processes common to both natural cellular behaviours during embryogenesis …
[HTML][HTML] Grainyhead-like 2 as a double-edged sword in development and cancer
J He, C Feng, H Zhu, S Wu, P Jin… - American journal of …, 2020 - ncbi.nlm.nih.gov
Abstract Grainyhead-like 2 (GRHL2), one of the three homologs of Drosophila grainyhead,
contributes to epithelial morphogenesis and differentiation. Dysregulation of GRHL2 has …
contributes to epithelial morphogenesis and differentiation. Dysregulation of GRHL2 has …
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 …
interactions. Though SB shows non-Mendelian inheritance, genetic factors contribute to an …
Whole exome sequencing identifies novel predisposing genes in neural tube defects
P Lemay, P De Marco, M Traverso… - Molecular genetics & …, 2019 - Wiley Online Library
Background Neural tube defects (NTD) are among the most common defects affecting 1:
1000 births. They are caused by a failure of neural tube closure during development. Their …
1000 births. They are caused by a failure of neural tube closure during development. Their …
Mis-expression of grainyhead-like transcription factors in zebrafish leads to defects in enveloping layer (EVL) integrity, cellular morphogenesis and axial extension
The grainyhead-like (grhl) transcription factors play crucial roles in craniofacial
development, epithelial morphogenesis, neural tube closure, and dorso-ventral patterning …
development, epithelial morphogenesis, neural tube closure, and dorso-ventral patterning …
Identifying biomarkers for prenatal diagnosis of neural tube defects based on “omics”
W Huang, H Gu, Z Yuan - Clinical Genetics, 2022 - Wiley Online Library
Neural tube defects (NTDs) are the most severe birth defects and the main cause of
newborn death; posing a great challenge to the affected children, families, and societies …
newborn death; posing a great challenge to the affected children, families, and societies …