Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

The Down syndrome-related protein kinase DYRK1A phosphorylates p27Kip1and Cyclin D1 and induces cell cycle exit and neuronal differentiation

(2014) Ulf Soppa et al.   CELL CYCLE

The impact of chromosomal microarray on clinical management: a retrospective analysis

(2014) Lindsay B. Henderson et al.   GENETICS IN MEDICINE

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

Intellectual disability and autism spectrum disorders: Causal genes and molecular mechanisms

(2014) Anand K. Srivastava et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

DYRK1A promotes dopaminergic neuron survival in the developing brain and in a mouse model of Parkinson’s disease

(2014) M J Barallobre et al.   Cell Death & Disease

New Perspectives of Dyrk1A Role in Neurogenesis and Neuropathologic Features of Down Syndrome

(2014) Joongkyu Park et al.   Experimental Neurobiology

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

(2013) Amélie Piton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Neurobiology of X-Linked Intellectual Disability

(2013) Silvia Bassani et al.   NEUROSCIENTIST

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

(2012) Herbert A. Lubs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dyrk1A Influences Neuronal Morphogenesis Through Regulation of Cytoskeletal Dynamics in Mammalian Cortical Neurons

(2012) M. Martinez de Lagran et al.   CEREBRAL CORTEX

Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy

(2012) Angelo Valetto et al.   European Journal of Medical Genetics

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

(2012) Claire Redin et al.   JOURNAL OF MEDICAL GENETICS

TheDYRK1Agene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

(2012) Jean-Benoît Courcet et al.   JOURNAL OF MEDICAL GENETICS

Gene Dosage-Dependent Association of DYRK1A With the Cytoskeleton in the Brain and Lymphocytes of Down Syndrome Patients

(2012) Karol Dowjat et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Phosphorylation by Dyrk1A of Clathrin Coated Vesicle-Associated Proteins: Identification of the Substrate Proteins and the Effects of Phosphorylation

(2012) Noriko Murakami et al.   PLoS One

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Minibrain/Dyrk1a Regulates Food Intake through the Sir2-FOXO-sNPF/NPY Pathway in Drosophila and Mammals

(2012) Seung-Hyun Hong et al.   PLoS Genetics

Genetic and Epigenetic Networks in Intellectual Disabilities

(2011) Hans van Bokhoven   Annual Review of Genetics

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly

(2011) BWM van Bon et al.   CLINICAL GENETICS

Transient expression of Mnb/Dyrk1a couples cell cycle exit and differentiation of neuronal precursors by inducing p27KIP1 expression and suppressing NOTCH signaling

(2011) B. Hammerle et al.   DEVELOPMENT

Microdeletion of the Down syndrome critical region at 21q22

(2010) Hideki Fujita et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6

(2010) Toshiyuki Yamamoto et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

MNB/DYRK1A as a multiple regulator of neuronal development

(2010) Francisco J. Tejedor et al.   FEBS Journal

Activation, regulation, and inhibition of DYRK1A

(2010) Walter Becker et al.   FEBS Journal

The role of DYRK1A in neurodegenerative diseases

(2010) Jerzy Wegiel et al.   FEBS Journal

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

DYRK1A and DYRK3 Promote Cell Survival through Phosphorylation and Activation of SIRT1

(2010) Xiumei Guo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Locus Reference Genomic sequences: an improved basis for describing human DNA variants

(2010) Raymond Dalgleish et al.   Genome Medicine

Nonprimed and DYRK1A-primed GSK3 -phosphorylation sites on MAP1B regulate microtubule dynamics in growing axons

(2009) T. M. E. Scales et al.   JOURNAL OF CELL SCIENCE

Attenuation of Notch signalling by the Down-syndrome-associated kinase DYRK1A

(2009) J. Fernandez-Martinez et al.   JOURNAL OF CELL SCIENCE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

(2009) S. Ashwal et al.   NEUROLOGY

Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly

(2008) Rikke S. Møller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The spatio-temporal and subcellular expression of the candidate Down syndrome gene Mnb/Dyrk1A in the developing mouse brain suggests distinct sequential roles in neuronal development

(2008) Barbara Hämmerle et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Impaired Spatial Learning Strategies and Novel Object Recognition in Mice Haploinsufficient for the Dual Specificity Tyrosine-Regulated Kinase-1A (Dyrk1A)

(2008) Glòria Arqué et al.   PLoS One