Results 91 to 100 of about 9,925 (218)
REST Regulates DYRK1A Transcription in a Negative Feedback Loop [PDF]
Journal of Biological Chemistry, 2011 DYRK1A (dual specificity tyrosine phosphorylation-regulated kinase 1A) has been shown to be involved in learning and memory impairments in Alzheimer disease and Down syndrome. As a homolog of Drosophila minibrain gene, DYRK1A also plays important roles in neurodevelopment; however, the function and regulatory mechanism of DYRK1A in neurodevelopment ...
Mei, Lu +6 more
openaire +2 more sources
MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families
Clinical Genetics, Volume 109, Issue 3, Page 558-563, March 2026.Pathogenic variants in MAP1B have recently emerged as a cause of neurodevelopmental disorders characterized by intellectual disability, epilepsy, and cortical malformations, including periventricular nodular heterotopia (PVNH) and polymicrogyria (PMG).
Jessica Archer +4 more
wiley +1 more source
The specificities of small molecule inhibitors of the TGF beta and BMP pathways [PDF]
, 2011 Small molecule inhibitors of type 1 receptor serine threonine kinases (ALKs1-7), the mediators of TGF beta and BMP signals, have been employed extensively to assess their physiological roles in cells and organisms. While all of these inhibitors have been
Sapkota, Gopal P. +2 more
core +3 more sources
PLoS ONE, 2012 Dyrk1A phosphorylated multiple proteins in the clathrin-coated vesicle (CCV) preparations obtained from rat brains. Mass spectrometric analysis identified MAP1A, MAP2, AP180, and α- and β-adaptins as the phosphorylated proteins in the CCVs.
Noriko Murakami +4 more
doaj +1 more source
Scientific Reports, 2022 The correct development and activity of neurons and glial cells is necessary to establish proper brain connectivity. DYRK1A encodes a protein kinase involved in the neuropathology associated with Down syndrome that influences neurogenesis and the ...
Isabel Pijuan +5 more
doaj +1 more source
MOLECULAR BASIS AND MODIFICATION OF A NEURAL CREST DEFICIT IN A DOWN SYNDROME MOUSE MODEL [PDF]
, 2012 poster abstractTrisomy 21 occurs in 1/700 live births and leads to phenotypes associat-ed with Down syndrome (DS), including craniofacial dysmorphology and a small mandible. Ts65Dn mice are trisomic for approximately half the genes on human chromosome 21
Day, Melanie +2 more
core
Solving the mystery of human sleep schedules one mutation at a time. [PDF]
, 2013 Sleep behavior remains one of the most enigmatic areas of life. The unanswered questions range from "why do we sleep?" to "how we can improve sleep in today's society?" Identification of mutations responsible for altered circadian regulation of human ...
Fu, Ying-Hui +2 more
core +1 more source
Advanced Science, Volume 13, Issue 12, 27 February 2026.Plasticity changes of molecular networks form a cellular learning process. Signaling network plasticity promotes cancer, metastasis, and drug resistance development. 55 plasticity‐related cancer drug targets are listed (20 having already approved drugs, 9 investigational drugs, and 26 being drug target candidates).
Márk Kerestély +5 more
wiley +1 more source
MOLECULAR MECHANISMS ALTERING SKELETAL DEVELOPMENT AND HOMEOSTASIS IN TS65NDN DOWN SYNDROME MICE [PDF]
, 2012 poster abstractDown syndrome (DS) is caused by three copies of human chromosome 21 (HSA21) and results in abnormal craniofacial and appendicular bone phe-notypes.
Blazek, Joshua D. +2 more
core
Possible functional links among brain- and skull-related genes selected in modern humans [PDF]
, 2015 The sequencing of the genomes from extinct hominins has revealed that changes in some brain-related genes have been selected after the split between anatomically-modern humans and Neanderthals/Denisovans. To date, no coherent view of these changes has
Antonio BenÃtez-Burraco +1 more
core +1 more source