Results 61 to 70 of about 22,874 (232)
Roles of histone lysine methylation in neurodevelopment and related disorders
Ibrain, EarlyView.This graphical abstract centers on the theme of dynamic balance and systematically outlines the role of histone lysine methylation in neurodevelopment and related disorders. The figure first presents two key classes of regulators that control this balance—“writers” and “erasers”—and then indicates how interactions among different epigenetic ...
Yun Chen +3 more
wiley +1 more source
Molecular Therapy: Nucleic Acids, 2018 Aniridia is a rare congenital syndrome that is associated with reduced visual acuity and progressive loss of vision. Aniridia patients may also develop systemic health issues associated with defects in the pancreas, digestive, and central nervous systems.
Kevin Yongblah +4 more
doaj +1 more source
Pax6 directly down-regulates Pcsk1n expression thereby regulating PC1/3 dependent proinsulin processing. [PDF]
PLoS ONE, 2012 Heterozygous paired box6 (Pax6) mutations lead to abnormal glucose metabolism in mice older than 6 months as well as in human beings. Our previous study found that Pax6 deficiency caused down-expression of prohormone convertase 1/3 (Pcsk1), resulting in ...
Ting Liu +7 more
doaj +1 more source
Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus [PDF]
, 2021 M. Nieves-Moreno +7 more
openalex +1 more source
The Kaohsiung Journal of Medical Sciences, EarlyView.ABSTRACT Diabetic cataracts are a leading cause of blindness, with lens epithelial cells (LECs) exhibiting mitochondrial dysfunction and autophagy inhibition under high glucose (HG) conditions. Methyltransferase‐like 14 (METTL14), an RNA methyltransferase, regulates N6‐methyladenosine (m6A) RNA modification; however, its role in modulating ...
Rui Li +4 more
wiley +1 more source
The Role of Pax6 in Brain Patterning.
The Tohoku Journal of Experimental Medicine, 2001 Pax6 g ene encodes a transcription factor that plays a pivotal role in various aspects of brain development. Here I review the molecular and cellular mechanisms of how the early brain is patterned, and introduce recent studies on the role of Pax6 in brain patterning, neuronal specification, neuronal migration and axonal extension.
openaire +3 more sources
BMC Genetics, 2005 Background The PAX6 protein is a transcriptional regulator with a key role in ocular and neurological development. Individuals with heterozygous loss-of-function mutations in the PAX6 gene have malformations of the eye and brain.
Hanson Isabel M, Cooper Simon T
doaj +1 more source
Pediatric Investigation, EarlyView.Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil +2 more
wiley +1 more source
PLoS Genetics, 2013 Pax6 is a developmental control gene essential for eye development throughout the animal kingdom. In addition, Pax6 plays key roles in other parts of the CNS, olfactory system, and pancreas.
Vydianathan Ravi +11 more
doaj +1 more source
Effects of Tributyltin Chloride on Human Neuronal Differentiation and Mice Brain Development
Environmental Toxicology, EarlyView.ABSTRACT According to the developmental origins of health and disease hypothesis, perinatal exposure to an environmental toxicant during the development of the nervous system could cause a permanent cellular modification that may promote the appearance of neurodegenerative diseases at an older age.
Ester López‐Gallardo +10 more
wiley +1 more source