Results 171 to 180 of about 6,457 (202)
Neuron, 2023 SUMMARY Heterozygous mutations in the Dual specificity tyrosine-phosphorylation-regulated kinase 1a Dyrk1a gene define a syndromic form of Autism Spectrum Disorder. The synaptic and circuit mechanisms mediating Dyrk1a functions in social cognition are unclear.
Amar Sahay
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Journal of American Association for Pediatric Ophthalmology and Strabismus, 2023
We present a case of retinopathy in a 4-year-old girl with DYRK1A syndrome. On external examination, she had short stature, cognitive delay, microcephaly, and iris coloboma of the right eye. On fundus examination of both eyes, she was found to have lattice degeneration and areas of avascularity in the retinal periphery, with overlying hyaloidal ...
Louis Cai +3 more
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We present a case of retinopathy in a 4-year-old girl with DYRK1A syndrome. On external examination, she had short stature, cognitive delay, microcephaly, and iris coloboma of the right eye. On fundus examination of both eyes, she was found to have lattice degeneration and areas of avascularity in the retinal periphery, with overlying hyaloidal ...
Louis Cai +3 more
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DYRK1A inhibitors for disease therapy: Current status and perspectives
European Journal of Medicinal Chemistry, 2022Dual-specificity tyrosine phosphorylation-regulated kinase 1 A (DYRK1A) is a conserved protein kinase that plays essential roles in various biological processes. It is located in the region q22.2 of chromosome 21, which is involved in the pathogenesis of Down syndrome (DS). Moreover, DYRK1A has been shown to promote the accumulation of amyloid beta (Aβ)
Yuxi Wang, Jiaxing Wang, Changyu Ren
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Recent research and development of DYRK1A inhibitors
Chinese Chemical Letters, 2022Abstract Dual specificity tyrosine phosphorylation regulated kinase 1A (DYRK1A) is an evolutionarily conserved protein kinase belonging to the CMGC kinase family, which is closely related to Down syndrome (DS) and Alzheimer's disease (AD). In recent years, not only the treatment of diabetes, but also the treatment of cancer gradually focuses on ...
Rongsheng Tong, Jianyou Shi
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DYRK1A Inhibitors and Perspectives for the Treatment of Alzheimer's Disease
Current Medicinal Chemistry, 2023Background: Alzheimer's disease (AD) is a chronic neurodegenerative disease and the most common form of dementia, especially in the elderly. Due to the increase in life expectancy, in recent years, there has been an excessive growth in the number of people affected by this disease, causing serious problems for health systems. In recent years, research
Márcia Maria, de Souza +10 more
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Regulation of Dyrk1A kinase activity by 14-3-3
Biochemical and Biophysical Research Communications, 2004 Dual-specificity tyrosine(Y) regulated kinase 1A (DYRK1A) is a serine/threonine protein kinase implicated in mental retardation resulting from Down syndrome.
Cheol O Joe, Sul-Hee Chung
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Dyrk1a is required for craniofacial development in Xenopus laevis.
Developmental Biology, 2023Abstract Loss of function mutations in the dual specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A) gene are associated with craniofacial malformations in humans. Here we characterized the effects of deficient DYRK1A in craniofacial development using a developmental model, Xenopus ...
H. Katherine Johnson +4 more
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DYRK1A mutations in two unrelated patients
European Journal of Medical Genetics, 2015The Dual-specify tyrosine phosphorylation-regulated kinase 1A (DYRK1A) gene has been extensively studied for its role in the pathophysiology of intellectual disability (ID) in Down syndrome. The rise of next generation sequencing (NGS) and array-CGH (aCGH) in diagnostic settings for the evaluation of patients with ID allowed the identification of 17 ...
Lyse, Ruaud +12 more
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Dyrk1A Inhibition as Potential Treatment for Alzheimer’S Disease
Future Medicinal Chemistry, 2016In total, 47,500,000 people worldwide are affected by dementia and this number is estimated to double by 2030 and triple within 2050 resulting in a huge burden on public health. Alzheimer's disease (AD), a progressive neurodegenerative disorder, is the most common cause of dementia, accounting for 60-70% of all the cases.
Silvia, Stotani +2 more
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Function and inhibition of DYRK1A: Emerging roles of treating multiple human diseases
Biochemical Pharmacology, 2023Xiaoxiao Fan, Yonggang Liu, Cen Liu
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