The Mediator kinase module: an interface between cell signaling and transcription

O Luyties, DJ Taatjes - Trends in biochemical sciences, 2022 - cell.com
The Mediator complex controls RNA polymerase II (pol II) activity by coordinating the
assembly of pol II regulatory factors at transcription start sites and by mediating interactions …

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 …

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 …

Pathogenesis of neural tube defects: The regulation and disruption of cellular processes underlying neural tube closure

DM Engelhardt, CA Martyr… - WIREs mechanisms of …, 2022 - Wiley Online Library
Neural tube closure (NTC) is crucial for proper development of the brain and spinal cord and
requires precise morphogenesis from a sheet of cells to an intact three‐dimensional …

[HTML][HTML] In vivo high-content imaging and regression analysis reveal non-cell autonomous functions of Shroom3 during neural tube closure

AT Baldwin, JH Kim, JB Wallingford - Developmental biology, 2022 - Elsevier
During neural tube closure, neural ectoderm cells constrict their apical surfaces to bend and
fold the tissue into a tube that will become the central nervous system. Recent data from …

[HTML][HTML] Activation of lipophagy ameliorates cadmium-induced neural tube defects via reducing low density lipoprotein cholesterol levels in mouse placentas

YF Zhang, S Zhang, Q Ling, W Chang, LL Tan… - Cell Biology and …, 2024 - Springer
Neural tube defects (NTDs) represent a prevalent and severe category of congenital
anomalies in humans. Cadmium (Cd) is an environmental teratogen known to cause fetal …

MED13L-related intellectual disability due to paternal germinal mosaicism

B Bessenyei, I Balogh… - Molecular …, 2022 - molecularcasestudies.cshlp.org
The MED13L-related intellectual disability or MRFACD syndrome (Mental retardation and
distinctive facial features with or without cardiac defects; MIM# 616789) is one of the most …

[HTML][HTML] 脊柱裂的病因和发病机制研究进展

海艳朱, 琳琳王, 爱国任 - Chinese Journal of Reparative and …, 2021 - ncbi.nlm.nih.gov
目的综述脊柱裂的病因及发病机制等研究进展. 方法通过查阅国内外脊柱裂相关研究文献,
从分型, 流行趋势, 发病机制, 病因及预防治疗等方面进行分析, 归纳和总结. 结果脊柱裂是神经管 …

In vivo imaging and regression analysis reveal cell-non-autonomous functions of Shroom3 during neural tube closure

AT Baldwin, JH Kim, JB Wallingford - bioRxiv, 2022 - biorxiv.org
During neural tube closure, neural ectoderm cells constrict their apical surfaces to bend and
fold the tissue into a tube that will become the central nervous system. These cells are …

Eph and Ephrin Variants in Malaysian Neural Tube Defect Families

SW Mohd-Zin, ACW Tan, WM Atroosh, MK Thong… - Genes, 2022 - mdpi.com
Neural tube defects (NTDs) are common birth defects with a complex genetic etiology.
Mouse genetic models have indicated a number of candidate genes, of which functional …