Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. - Wikidata - wikimedia - TriplyDB

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

http://www.wikidata.org/entity/Q36718950

about

DYRK1A, a Dosage-Sensitive Gene Involved in Neurodevelopmental Disorders, Is a Target for Drug Development in Down Syndrome Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature Structures of Down Syndrome Kinases, DYRKs, Reveal Mechanisms of Kinase Activation and Substrate Recognition Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders De Novo Gene Disruptions in Children on the Autistic Spectrum Targeting Dyrk1A with AAVshRNA attenuates motor alterations in TgDyrk1A, a mouse model of Down syndrome.Impaired spatial learning strategies and novel object recognition in mice haploinsufficient for the dual specificity tyrosine-regulated kinase-1A (Dyrk1A).Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.Transcriptomic responses in mouse brain exposed to chronic excess of the neurotransmitter glutamate.Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.A de novo convergence of autism genetics and molecular neuroscience.Prioritization of neurodevelopmental disease genes by discovery of new mutations.Commonality in Down and fetal alcohol syndromes.The Down syndrome-related protein kinase DYRK1A phosphorylates p27(Kip1) and Cyclin D1 and induces cell cycle exit and neuronal differentiation Evaluating translocation gene fusions by SNP array data.Riquiqui and minibrain are regulators of the hippo pathway downstream of Dachsous.Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.Minibrain/Dyrk1a regulates food intake through the Sir2-FOXO-sNPF/NPY pathway in Drosophila and mammals Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.Pharmacophore and 3D-QSAR characterization of 6-arylquinazolin-4-amines as Cdc2-like kinase 4 (Clk4) and dual specificity tyrosine-phosphorylation-regulated kinase 1A (Dyrk1A) inhibitors Transient expression of Mnb/Dyrk1a couples cell cycle exit and differentiation of neuronal precursors by inducing p27KIP1 expression and suppressing NOTCH signaling.Drosophila Dyrk2 plays a role in the development of the visual system Truncation and Activation of Dual Specificity Tyrosine Phosphorylation-regulated Kinase 1A by Calpain I: A MOLECULAR MECHANISM LINKED TO TAU PATHOLOGY IN ALZHEIMER DISEASE.Trisomy 21 and early brain development Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.Gene dosage-dependent association of DYRK1A with the cytoskeleton in the brain and lymphocytes of down syndrome patients.Small-molecule pyrimidine inhibitors of the cdc2-like (Clk) and dual specificity tyrosine phosphorylation-regulated (Dyrk) kinases: development of chemical probe ML315.DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome Minibrain and Wings apart control organ growth and tissue patterning through down-regulation of Capicua Dyrk1A overexpression inhibits proliferation and induces premature neuronal differentiation of neural progenitor cells.Combined Treatment With Environmental Enrichment and (-)-Epigallocatechin-3-Gallate Ameliorates Learning Deficits and Hippocampal Alterations in a Mouse Model of Down Syndrome.Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.Efficient and rapid generation of large genomic variants in rats and mice using CRISMERE Activation, regulation, and inhibition of DYRK1A.MNB/DYRK1A as a multiple regulator of neuronal development.The C-terminal region of E1A: a molecular tool for cellular cartography.DYRK1A: the double-edged kinase as a protagonist in cell growth and tumorigenesis.The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.

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Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

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Truncation of the Down syndrom ...... ed patients with microcephaly.

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American Journal of Human Genetics

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Truncation of the Down syndrom ...... ed patients with microcephaly.

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Babett Heye

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Christian P Hansen

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Zeynep Tümer

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P2860

Gemin8 is required for the architecture and function of the survival motor neuron complex

Normal development and fertility of knockout mice lacking the tumor suppressor gene LRP1b suggest functional compensation by LRP1

Human minibrain homologue (MNBH/DYRK1): characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome

Functional screening of 2 Mb of human chromosome 21q22.2 in transgenic mice implicates minibrain in learning defects associated with Down syndrome

Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice

Transgenic mouse in vivo library of human Down syndrome critical region 1: association between DYRK1A overexpression, brain development abnormalities, and cell cycle protein alteration.

Alterations of neocortical pyramidal cell phenotype in the Ts65Dn mouse model of Down syndrome: effects of environmental enrichment.

Development of the superior temporal neocortex is anomalous in trisomy 21.

Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region

Trisomy-driven overexpression of DYRK1A kinase in the brain of subjects with Down syndrome

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Maria Hoeltzenbein

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