| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Mehdi Agha Gholizadeh, Farkhondeh Behjati, Saghar Ghasemi Firouzabadi, Erfan Heidari, Ehsan Razmara, Navid Almadani, Ali Sharifi Zarchi, Masoud Garshasb. Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families. Neurogenetics. 2024-07-08. PMID:38976082. |
novel splicing variant and gonadal mosaicism in dyrk1a gene identified by whole-genome sequencing in multiplex autism spectrum disorder families. |
2024-07-08 |
2024-07-11 |
Not clear |
| Yanzhuang Ge, Yan Cheng, Tingting Yin, Xingsheng Peng, Zhongmeng Xiong, Bingbing Wu, Huijun Wang, Man Xiong, Wenhao Zho. Generation of a human induced pluripotent stem cell line (FDCHi012-A) from a patient with DYRK1A-related intellectual disability syndrome carrying DYRK1A mutation (c.1024G > T). Stem cell research. vol 76. 2024-02-21. PMID:38382213. |
dyrk1a haploinsufficiency causes a neurodevelopmental syndrome termed dyrk1a-related intellectual disability syndrome which is associated with a range of symptoms including microcephaly, epileptic seizures, and autism spectrum disorder. |
2024-02-21 |
2024-02-24 |
human |
| Yoshihiko Miyata, Eisuke Nishid. Identification of FAM53C as a cytosolic-anchoring inhibitory binding protein of the kinase DYRK1A. Life science alliance. vol 6. issue 12. 2023-10-06. PMID:37802655. |
in addition, dyrk1a malfunction is associated with various other neurodevelopmental disorders such as autism spectrum disorder. |
2023-10-06 |
2023-10-15 |
human |
| Yu-Tzu Shih, Jason Bondoc Alipio, Amar Saha. An inhibitory circuit-based enhancer of DYRK1A function reverses Dyrk1a-associated impairment in social recognition. Neuron. vol 111. issue 19. 2023-10-05. PMID:37797581. |
heterozygous mutations in the dual-specificity tyrosine phosphorylation-regulated kinase 1a (dyrk1a) gene define a syndromic form of autism spectrum disorder. |
2023-10-05 |
2023-10-07 |
mouse |
| Evangeline C Kurtz-Nelson, Hannah M Rea, Aiva C Petriceks, Caitlin M Hudac, Tianyun Wang, Rachel K Earl, Raphael A Bernier, Evan E Eichler, Emily Neuhau. Characterizing the autism spectrum phenotype in DYRK1A-related syndrome. Autism research : official journal of the International Society for Autism Research. 2023-07-27. PMID:37497568. |
likely gene-disrupting (lgd) variants in dyrk1a are causative of dyrk1a syndrome and associated with autism spectrum disorder (asd) and intellectual disability (id). |
2023-07-27 |
2023-08-14 |
human |
| Isabel Pijuan, Elisa Balducci, Cristina Soto-Sánchez, Eduardo Fernández, María José Barallobre, Maria L Arboné. Impaired macroglial development and axonal conductivity contributes to the neuropathology of DYRK1A-related intellectual disability syndrome. Scientific reports. vol 12. issue 1. 2022-11-19. PMID:36402907. |
dyrk1a loss-of-function mutations in heterozygosity cause a well-recognizable syndrome of intellectual disability and autism spectrum disorder. |
2022-11-19 |
2023-08-14 |
Not clear |
| Rebecca Fenster, Alban Ziegler, Catherine Kentros, Alexa Geltzeiler, LeeAnne Green Snyder, Elizabeth Brooks, Wendy K Chun. Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures. American journal of medical genetics. Part A. 2022-03-14. PMID:35285131. |
this study confirms the association of dyrk1a haploinsufficiency with neurodevelopmental disabilities, microcephaly, autism spectrum disorder, and epilepsy and quantifies the range of adaptive behaviors. |
2022-03-14 |
2023-08-13 |
human |
| Jenna A Levy, Christy W LaFlamme, George Tsaprailis, Gogce Crynen, Damon T Pag. Dyrk1a Mutations Cause Undergrowth of Cortical Pyramidal Neurons via Dysregulated Growth Factor Signaling. Biological psychiatry. vol 90. issue 5. 2021-09-27. PMID:33840455. |
mutations in dyrk1a are a cause of microcephaly, autism spectrum disorder, and intellectual disability; however, the underlying cellular and molecular mechanisms are not well understood. |
2021-09-27 |
2023-08-13 |
Not clear |
| Mattias F Lindberg, Laurent Meije. Dual-Specificity, Tyrosine Phosphorylation-Regulated Kinases (DYRKs) and cdc2-Like Kinases (CLKs) in Human Disease, an Overview. International journal of molecular sciences. vol 22. issue 11. 2021-07-13. PMID:34205123. |
abnormal expression and/or activity of some of these kinases, dyrk1a in particular, is seen in many human nervous system diseases, such as cognitive deficits associated with down syndrome, alzheimer's disease and related diseases, tauopathies, dementia, pick's disease, parkinson's disease and other neurodegenerative diseases, phelan-mcdermid syndrome, autism, and cdkl5 deficiency disorder. |
2021-07-13 |
2023-08-13 |
human |
| Anne B Arnett, Jennifer S Beighley, Evangeline C Kurtz-Nelson, Kendra Hoekzema, Tianyun Wang, Raphe A Bernier, Evan E Eichle. Developmental Predictors of Cognitive and Adaptive Outcomes in Genetic Subtypes of Autism Spectrum Disorder. Autism research : official journal of the International Society for Autism Research. vol 13. issue 10. 2021-07-01. PMID:32918531. |
lay summary: researchers have found many genetic causes of autism including mutations to adnp, chd8, dyrk1a, grin2b, and scn2a genes. |
2021-07-01 |
2023-08-13 |
Not clear |
| Maria L Arbones, Aurore Thomazeau, Akiko Nakano-Kobayashi, Masatoshi Hagiwara, Jean M Delaba. DYRK1A and cognition: A lifelong relationship. Pharmacology & therapeutics. vol 194. 2020-02-28. PMID:30268771. |
because this kinase is positioned at the crossroads of many important processes, genetic dosage errors in this protein produce devastating effects arising from dyrk1a deficiency, such as in mrd7, an autism spectrum disorder, or from dyrk1a excess, such as in down syndrome. |
2020-02-28 |
2023-08-13 |
mouse |
| Esti Wahyu Widowati, Sabrina Ernst, Ralf Hausmann, Gerhard Müller-Newen, Walter Becke. Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism. Biology open. vol 7. issue 4. 2019-11-20. PMID:29700199. |
functional characterization of dyrk1a missense variants associated with a syndromic form of intellectual deficiency and autism. |
2019-11-20 |
2023-08-13 |
Not clear |
| Matthieu Raveau, Atsushi Shimohata, Kenji Amano, Hiroyuki Miyamoto, Kazuhiro Yamakaw. DYRK1A-haploinsufficiency in mice causes autistic-like features and febrile seizures. Neurobiology of disease. vol 110. 2019-09-06. PMID:29223763. |
mutations and copy number variants affecting dyrk1a gene encoding the dual-specificity tyrosine phosphorylation-regulated kinase 1a are among the most frequent genetic causes of neurodevelopmental disorders including autism spectrum disorder (asd) associated with microcephaly, febrile seizures and severe speech acquisition delay. |
2019-09-06 |
2023-08-13 |
mouse |
| T Dang, W Y Duan, B Yu, D L Tong, C Cheng, Y F Zhang, W Wu, K Ye, W X Zhang, M Wu, B B Wu, Y An, Z L Qiu, B L W. Autism-associated Dyrk1a truncation mutants impair neuronal dendritic and spine growth and interfere with postnatal cortical development. Molecular psychiatry. vol 23. issue 3. 2019-03-12. PMID:28167836. |
recently, the dual-specificity tyrosine-(y)-phosphorylation-regulated kinase 1 a (dyrk1a) gene was implicated as a risk factor for autism spectrum disorder (asd). |
2019-03-12 |
2023-08-13 |
Not clear |
| T Dang, W Y Duan, B Yu, D L Tong, C Cheng, Y F Zhang, W Wu, K Ye, W X Zhang, M Wu, B B Wu, Y An, Z L Qiu, B L W. Autism-associated Dyrk1a truncation mutants impair neuronal dendritic and spine growth and interfere with postnatal cortical development. Molecular psychiatry. vol 23. issue 3. 2019-03-12. PMID:28167836. |
studies of the truncated dyrk1a mutants may provide new insights into the role of dyrk1a in brain development, as well as the role of dyrk1a loss of function in the pathophysiology of autism. |
2019-03-12 |
2023-08-13 |
Not clear |
| B W M van Bon, B P Coe, R Bernier, C Green, J Gerdts, K Witherspoon, T Kleefstra, M H Willemsen, R Kumar, P Bosco, M Fichera, D Li, D Amaral, F Cristofoli, H Peeters, E Haan, C Romano, H C Mefford, I Scheffer, J Gecz, B B A de Vries, E E Eichle. Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. Molecular psychiatry. vol 21. issue 1. 2016-09-16. PMID:25707398. |
truncation of dyrk1a in patients with developmental delay (dd) and autism spectrum disorder (asd) suggests a different pathology associated with loss-of-function mutations. |
2016-09-16 |
2023-08-13 |
drosophila_melanogaster |
| B W M van Bon, B P Coe, R Bernier, C Green, J Gerdts, K Witherspoon, T Kleefstra, M H Willemsen, R Kumar, P Bosco, M Fichera, D Li, D Amaral, F Cristofoli, H Peeters, E Haan, C Romano, H C Mefford, I Scheffer, J Gecz, B B A de Vries, E E Eichle. Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. Molecular psychiatry. vol 21. issue 1. 2016-09-16. PMID:25707398. |
disruptive de novo mutations of dyrk1a lead to a syndromic form of autism and id. |
2016-09-16 |
2023-08-13 |
drosophila_melanogaster |
| Lucas M Bronicki, Claire Redin, Severine Drunat, Amélie Piton, Michael Lyons, Sandrine Passemard, Clarisse Baumann, Laurence Faivre, Julien Thevenon, Jean-Baptiste Rivière, Bertrand Isidor, Grace Gan, Christine Francannet, Marjolaine Willems, Murat Gunel, Julie R Jones, Joseph G Gleeson, Jean-Louis Mandel, Roger E Stevenson, Michael J Friez, Arthur S Aylswort. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. European journal of human genetics : EJHG. vol 23. issue 11. 2016-05-06. PMID:25920557. |
the dual-specificity tyrosine-phosphorylation-regulated kinase 1a (dyrk1a) gene, located on chromosome 21q22.13 within the down syndrome critical region, has been implicated in syndromic intellectual disability associated with down syndrome and autism. |
2016-05-06 |
2023-08-13 |
Not clear |
| Lyse Ruaud, Cyril Mignot, Agnès Guët, Christelle Ohl, Caroline Nava, Delphine Héron, Boris Keren, Christel Depienne, Valérie Benoit, Isabelle Maystadt, Damien Lederer, Daniel Amsallem, Juliette Piar. DYRK1A mutations in two unrelated patients. European journal of medical genetics. vol 58. issue 3. 2015-12-24. PMID:25641759. |
together with previously reported cases, patients with dyrk1a mutations share many clinical features and may have a recognizable phenotype that includes, by decreasing order of frequency: developmental delay or id with behaviors suggesting autism spectrum disorder, microcephaly, epileptic seizures, facial dysmorphism including ear anomalies (large ears, hypoplastic lobes), thin lips, short philtrum and frontal bossing. |
2015-12-24 |
2023-08-13 |
Not clear |
| Chun-Kan Chen, Catherine Bregere, Jeremy Paluch, Jason F Lu, Dion K Dickman, Karen T Chan. Activity-dependent facilitation of Synaptojanin and synaptic vesicle recycling by the Minibrain kinase. Nature communications. vol 5. 2015-10-27. PMID:24977345. |
here we present evidence that minibrain (mnb; also known as dyrk1a), a serine/threonine kinase implicated in autism spectrum disorder and down syndrome, is required presynaptically for normal synaptic growth and rapid synaptic vesicle endocytosis at the drosophila neuromuscular junction (nmj). |
2015-10-27 |
2023-08-13 |
drosophila_melanogaster |