Search for other works by this author on: selection(s). This strain may be useful for generating conditional mutations in applications related to a range of cellular processes including, but not limited to: lymphopoiesis, transcription, mRNA splicing, and cell proliferation. mutated samples for point mutations, CNV data and gene expression data. Interestingly, while all the pathogenic splice site mutations identified in this study occur within the kinase domain itself, which is likely to be intolerant to alternative splicing, likely benign splice variants and indels occur either proximal to the start of the N-terminus of the domain or distal to the C-terminal end where alternatively spliced isoforms of the protein may be viable. Chromosomal deletions encompassing DYRK1A have been associated with intellectual disability for several years.
deletion or LOH and are excluded by default. These floxed mutant mice possess loxP sites flanking exons 5 and 6 of the Dyrk1a (dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1a) gene. The mechanism by which they cause disease is therefore unclear. Search for other works by this author on: DYRK1A is a tyrosine-(Y) -phosphorylation regulated kinase encoded on chromosome 21 that has been implicated as responsible for the cognitive abnormalities common in Down syndrome. NLS, nuclear localization signal; DH, DYRK homology box; PEST, proline, glutamic acid, serine, and threonine rich domain; STS, speckle-targeting signal; H, histidine repeat; S/T, serine/threonine repeat. LRP2 controls sonic hedgehog-dependent differentiation of cardiac progenitor cells during outflow tract formation The gene view histogram is a graphical view of mutations across DYRK1A_ENST00000398956. more information in our the same genomic position on both the canonical and alternative transcripts used in Ensembl. These resources provide more information about this condition or associated symptoms. or on overlapping genes and/or fusions and share a COSM id. To view all methylation probes within or in data for the selected gene with links to Sample, Study, CNV and (icons) to The five missense mutations all occur within the kinase domain, and their 3D locations are shown in We then compared the locations of the known missense pathogenic mutations in The MNB/DYRK1A protein kinase: genetic and biochemical propertiesDYRK1A accumulates in splicing speckles through a novel targeting signal and induces speckle disassemblyDual-specificity tyrosine phosphorylation-regulated kinase 1A does not require tyrosine phosphorylation for activity in vitroIdentification of the autophosphorylation sites and characterization of their effects in the protein kinase DYRK1AActivation-loop autophosphorylation is mediated by a novel transitional intermediate form of DYRKsTrisomy-driven overexpression of DYRK1A kinase in the brain of subjects with Down syndromeFunction and regulation of Dyrk1A: towards understanding Down syndromeMolecular mapping of the Down syndrome phenotype on chromosome 21Mapping of the Down syndrome phenotype on chromosome 21 at the molecular levelMNB/DYRK1A as a multiple regulator of neuronal developmentminibrain: a new protein kinase family involved in postembryonic neurogenesis in DrosophilaDyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in miceHaploinsufficiency of Dyrk1A in mice leads to specific alterations in the development and regulation of motor activityDopaminergic deficiency in mice with reduced levels of the dual‐specificity tyrosine‐phosphorylated and regulated kinase 1A, Dyrk1A+/−Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1AThe DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsyDe novo gene disruptions in children on the autistic spectrumTruncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephalyMultiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disordersSporadic autism exomes reveal a highly interconnected protein network of de novo mutationsLarge-scale discovery of novel genetic causes of developmental disordersIntragenic deletion in DYRK1A leads to mental retardation and primary microcephalyClinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct faciesDisruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDChromatin-wide profiling of DYRK1A reveals a role as a gene-specific RNA polymerase II CTD kinaseCase report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literatureAnalysis of protein-coding genetic variation in 60,706 humansPrevalence, phenotype and architecture of developmental disorders caused by de novo mutationDECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variationComputer Program, Department of Biochemistry and Molecular BiologyStereochemical quality of protein structure coordinatesPredicting the effecats of coding non-synonymous variants on protein function using the SIFT algorithmThe Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataDeriving the consequences of genomic variants with the Ensembl API and SNP Effect PredictorGenetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data10-Iodo-11 H-indolo [3, 2-c] quinoline-6-carboxylic acids are selective inhibitors of DYRK1AStructures of Down syndrome kinases, DYRKs, reveal mechanisms of kinase activation and substrate recognitionPresenting your structures: the CCP4mg molecular-graphics softwareThe HSSP database of protein structure—sequence alignments and family profiles© The Author 2017.