Results 41 to 50 of about 2,001,908 (203)
Role of miRNAs in neural tube development
, 2013 Although mutations in hundreds (>200) of genes have been causally linked to neural tube defects (NTDs) in mouse, in humans the elucidation of genetic factors associated to NTD has remained elusive.
A. Gallina +7 more
core +2 more sources
Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice. [PDF]
, 2015 Glycine decarboxylase (GLDC) acts in the glycine cleavage system to decarboxylate glycine and transfer a one-carbon unit into folate one-carbon metabolism. GLDC mutations cause a rare recessive disease non-ketotic hyperglycinemia (NKH).
Brosnan, ME +9 more
core
, 2023 Neural tube closure is a fundamental process during vertebrate embryogenesis, which leads to the formation of the central nervous system. Defective neural tube closure leads to neural tube defects which are some of the most common human birth defects ...
Paris A. Skourides (14347593) +1 more
core +1 more source
FEBS Open Bio, EarlyView.Glioblastoma cells express calcitonin receptor variants (CT receptor isoforms) that may help them survive stress. Using qPCR, transcript‐specific long‐read nanopore sequencing, immunofluorescence co‐localisation and comparative sequence analysis, this study identifies a novel alternatively spliced CALCR transcript that encodes the CTb receptor isoform ...
Pragya Gupta +7 more
wiley +1 more source
Characterising the unique role of Grainyhead-like 3 in neural tube closure
, 2023 Neural tube closure is a dynamic, complex developmental process. Its failure causes neural tube defects. The gene Grhl3 is indispensable for this process, however, the mechanisms by which it induces neural tube closure remain unclear. Through single-cell
ZIHAO DENG (17455173)
core +1 more source
The Role of Calcitonin Gene‐Related Peptide in High‐Altitude Headache: A Prospective Field Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective High‐altitude headache (HAH) is a common neurological condition associated with rapid ascent to high altitude. The pathophysiological mechanisms underlying HAH remain incompletely understood. Calcitonin gene‐related peptide (CGRP), a neuropeptide implicated in migraine pathophysiology, may play a key role in the pathophysiology of ...
Roman Schniepp +4 more
wiley +1 more source
Disease Models & Mechanisms, 2018 Human mutations in the planar cell polarity component VANGL2 are associated with the neural tube defect spina bifida. Homozygous Vangl2 mutation in mice prevents initiation of neural tube closure, precluding analysis of its subsequent roles in ...
Gabriel L. Galea +8 more
doaj +1 more source
Cell Death and Disease, 2021 Impaired autophagy and excessive apoptosis disrupt cellular homeostasis and contribute to neural tube defects (NTDs), which are a group of fatal and disabling birth defects caused by the failure of neural tube closure during early embryonic development ...
Wanqi Huang +8 more
doaj +1 more source
Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
Non-neural surface ectodermal rosette formation and F-actin dynamics drive mammalian neural tube closure [PDF]
, 2020 The mechanisms underlying mammalian neural tube closure remain poorly understood. We report a unique cellular process involving multicellular rosette formation, convergent cellular protrusions, and F-actin cable network of the non-neural surface ...
Gu, Ran +12 more
core +1 more source