Results 11 to 20 of about 9,925 (218)

Skeletal health in DYRK1A syndrome

Frontiers in Neuroscience
DYRK1A syndrome results from a reduction in copy number of the DYRK1A gene, which resides on human chromosome 21 (Hsa21). DYRK1A has been implicated in the development of cognitive phenotypes associated with many genetic disorders, including Down ...
Elysabeth D. Otte, Randall J. Roper
doaj   +4 more sources

DYRK1A activates NFATC1 to increase glioblastoma migration [PDF]

Cancer Medicine, 2021
Glioblastoma (GBM) is the most aggressive glioma, and is prone to develop resistance to chemotherapy and radiotherapy; hence, patients with glioblastoma have a high recurrence rate and a low 1‐year survival rate.
Heng Liu, Qian Sun, Shuai Chen, Long Chen, Wenming Jia, Juan Zhao, Xiulian Sun   +6 more
doaj   +3 more sources

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency [PDF]

Molecular Autism, 2017
Background DYRK1A is a gene recurrently disrupted in 0.1–0.5% of the ASD population. A growing number of case reports with DYRK1A haploinsufficiency exhibit common phenotypic features including microcephaly, intellectual disability, speech delay, and ...
Rachel K. Earl, Tychele N. Turner, Heather C. Mefford, Caitlin M. Hudac, Jennifer Gerdts, Evan E. Eichler, Raphael A. Bernier   +6 more
doaj   +3 more sources

DYRK1A: A master regulatory protein controlling brain growth

Neurobiology of Disease, 2012
Copy number variation in a small region of chromosome 21 containing DYRK1A produces morphological and cognitive alterations in human. In mouse models, haploinsufficiency results in microcephaly, and a human DYRK1A gain-of-function model (three alleles ...
Fayçal Guedj, Patricia Lopes Pereira, Sonia Najas, Maria-Jose Barallobre, Caroline Chabert, Benoit Souchet, Catherine Sebrie, Catherine Verney, Yann Herault, Mariona Arbones, Jean M. Delabar   +10 more
doaj   +4 more sources

One-carbon cycle alterations induced by Dyrk1a dosage

Molecular Genetics and Metabolism Reports, 2014
Hyperhomocysteinemia due to cystathionine beta synthase deficiency confers diverse clinical manifestations. It is characterized by elevated plasma homocysteine levels, a common amino acid metabolized by remethylation to methionine or transsulfuration to ...
Jean-Maurice Delabar, Alizée Latour, Christophe Noll, Marjorie Renon, Sacha Salameh, Jean-Louis Paul, Mariona Arbones, Jamileh Movassat, Nathalie Janel   +8 more
doaj   +4 more sources

NFATc1 phosphorylation by DYRK1A increases its protein stability.

PLoS ONE, 2017
NFATs are transcription factors involved in immune activation and tumor progression. Previous reports showed that DYRK1A suppressed NFATc2 transcriptional activity through phosphorylation.
Heng Liu, Ketao Wang, Shuai Chen, Qian Sun, Yuankai Zhang, Long Chen, Xiulian Sun   +6 more
doaj   +4 more sources

Measurement of Tau Protein and Aβ Amyloid Plaques in Postmortem Human Brains of Down Syndrome and Alzheimer's Disease by Using [¹²⁵I]IPPI and [¹²⁵I]IBETA Autoradiography. [PDF]

Synapse
ABSTRACT The accumulation of tau tangles and Aβ plaques are prominent neuropathologies that characterize Alzheimer's disease (AD) and Down syndrome (DS). Continuous developments of PET tracers as biomarkers can be supported by autoradiography to validate effectiveness and accuracy of binding properties that elucidate the pathophysiology of DSAD and AD.
Biju AP, Karim F, Schafer DM, Sison SA, Liang C, Head E, Mukherjee J.   +6 more
europepmc   +2 more sources

Growth charts in DYRK1A syndrome

American Journal of Medical Genetics Part A, 2023
AbstractDYRK1A Syndrome (OMIM #614104) is caused by pathogenic variations in the DYRK1A gene located on 21q22. Haploinsufficiency of DYRK1A causes a syndrome with global psychomotor delay and intellectual disability. Low birth weight, growth restriction with feeding difficulties, stature insufficiency, and microcephaly are frequently reported.
Lanvin, Pierre‐louis, Goronflot, Thomas, Isidor, Bertrand, Nizon, Mathilde, Durand, Benjamin, El Chehadeh, Salima, Geneviève, David, Ruault, Valentin, Fradin, Mélanie, Pasquier, Laurent, Thevenon, Julien, Delobel, Bruno, Burglen, Lydie, Afenjar, Alexandra, Faivre, Laurence, Francannet, Christine, Guerrot, Anne‐marie, Goldenberg, Alice, Mercier, Sandra, Héron, Delphine, Lehalle, Daphné, Mignot, Cyril, Marey, Isabelle, Charles, Perrine, Moutton, Sébastien, Bézieau, Stéphane, Bayat, Allan, Piton, Amélie, Willems, Marjolaine, Vincent, Marie   +29 more
openaire   +4 more sources

Ocular Phenotype Associated with DYRK1A Variants

Genes, 2021
Dual-specificity tyrosine phosphorylation-regulated kinase 1A or DYRK1A, contributes to central nervous system development in a dose-sensitive manner. Triallelic DYRK1A is implicated in the neuropathology of Down syndrome, whereas haploinsufficiency causes the rare DYRK1A-related intellectual disability syndrome (also known as mental retardation 7). It
Cécile Méjécase, Christopher M. Way, Nicholas Owen, Mariya Moosajee   +3 more
openaire   +3 more sources

Mechanism of DYRK1a in myocardial ischemia–reperfusion injury by regulating ferroptosis of cardiomyocytes

Kaohsiung Journal of Medical Sciences, 2023
This study aimed to explore the role and mechanism of DYRK1a regulating ferroptosis of cardiomyocytes during myocardial ischemia–reperfusion injury (MIRI).
Jing Wang, Rui‐Ming Xu, Qiu‐Mei Cao, Bing‐Chen Ma, Hao Zhang, Hua‐Peng Hao   +5 more
doaj   +1 more source