Results 11 to 20 of about 6,457 (202)

Skeletal health in DYRK1A syndrome [PDF]

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   +5 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
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Ocular Phenotype Associated with DYRK1A Variants [PDF]

Genes, 2021
Dual-specificity tyrosine phosphorylation-regulated kinase 1A or DYRK1A, contributes to central nervous system development in a dose-sensitive manner.
Christopher M. Way, Cécile Méjécase, Mariya Moosajee, Nicholas Owen   +3 more
core   +6 more sources

Growth charts in DYRK1A syndrome [PDF]

American Journal of Medical Genetics Part A, 2023
DYRK1A 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.
Guerrot, Anne Marie, Lanvin, Pierre-Louis, Lanvin, Pierre‐louis, El Chehadeh, Salima, Goldenberg, Alice, Marey, Isabelle, Nizon, Mathilde, Héron, Delphine, Thévenon, Julien, Bayat, Allan; id_orcid, Isidor, Bertrand, Piton, Amélie, Durand, Benjamin, Delobel, Bruno, Fradin, Mélanie, Guerrot, Anne-Marie, Bézieau, Stéphane, Ruault, Valentin, Charles, Perrine, Mignot, Cyril, Lehalle, Daphné, Afenjar, Alexandra, Moutton, Sébastien, Vincent, Marie, Lanvin, Pierre Louis, Willems, Marjolaine, Mercier, Sandra, Goronflot, Thomas, Guerrot, Anne‐marie, Geneviève, David, Francannet, Christine, Burglen, Lydie, Faivre, Laurence, Pasquier, Laurent, Bayat, Allan   +34 more
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A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay [PDF]

Scientific Reports, 2020
Dual-specificity tyrosine phosphorylation-regulated kinase 1？A (DYRK1A) is essential for human development, and DYRK1A haploinsufficiency is associated with a recognizable developmental syndrome and variable clinical features.
Sungchan Cho, C K Cheon, Dae Woo Kwon, Yeongwook Ham, Miri Choi, S B Han, Ae-Kyeong Kim, Kyu-Sun Lee, D Kim, J M Choi   +9 more
core   +3 more sources

Impact of Dyrk1A level on alcohol metabolism

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2016
International audienceAlcoholic liver diseases arise from complex phenotypes involving many genetic factors. It is quite common to find hyperhomocysteinemia in chronic alcoholic liver diseases, mainly due to deregulation of hepatic homocysteine ...
Rouach, Hélène, Paul, Jean-Louis, Legrand, Béatrice, Mortreux, Marie, Delabar, Jean-Maurice, Andreau, Karine, Bokobza, Cindy, Janel, Nathalie, Blanc, Étienne, Daubigney, Fabrice   +9 more
core   +3 more sources

RNF169 and RNF168 novel substrates of DYRK1A : connecting DYRK1A to DNA-damage repair [PDF]

, 2016
Gene dosage alterations of the kinase DYRK1A are linked to disease in humans. To better understand DYRK1A activities an interactome analysis was performed.
Roewenstrunk, Julia Maria
core   +3 more sources

Selective Macrocyclic Inhibitors of DYRK1A/B

ACS Medicinal Chemistry Letters, 2022
Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A) is a therapeutic target of interest due to the roles it plays in both neurological diseases and cancer.
Prasanna S. Vatsan (11597284), Jianwei Che (584881), John M. Hatcher (1456450), Jie Jiang, Chelsea E. Powell (5136566), Nathanael S. Gray, Jie Jiang (187037), Nathanael S. Gray (150685), John M. Hatcher, Prasanna S. Vatsan, Chelsea E. Powell, Jianwei Che   +11 more
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CHARACTERIZATION OF THE TSC/DYRK1A INTERACTION

, 2020
The Tuberous sclerosis complex (TSC) includes TSC1, TSC2 and the TBC1D7 subunits that together function as a principal inhibitor of the mTOR protein kinase complex 1 (mTORC1). mTORC1 is a master regulator of cell growth and proliferation that responds to
Joshi, Supriya
core   +2 more sources

DYRK1A roles in human neural progenitors

Frontiers in Neuroscience
IntroductionMutations in dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) represent one of the most prevalent monogenic causes of neurodevelopmental disorders (NDDs), often associated with intellectual developmental disorder and ...
Jeremie Courraud, Jeremie Courraud, Jeremie Courraud, Jeremie Courraud, Angélique Quartier, Angélique Quartier, Angélique Quartier, Angélique Quartier, Nathalie Drouot, Nathalie Drouot, Nathalie Drouot, Nathalie Drouot, Irene Zapata-Bodalo, Irene Zapata-Bodalo, Irene Zapata-Bodalo, Irene Zapata-Bodalo, Johan Gilet, Johan Gilet, Johan Gilet, Johan Gilet, Alexandra Benchoua, Jean-Louis Mandel, Jean-Louis Mandel, Jean-Louis Mandel, Jean-Louis Mandel, Amélie Piton, Amélie Piton, Amélie Piton, Amélie Piton, Amélie Piton, Amélie Piton   +30 more
doaj   +3 more sources