DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Prenatal treatment of Down syndrome

(2014) Fayçal Guedj et al.   CURRENT OPINION IN OBSTETRICS & GYNECOLOGY

Dyrk1a haploinsufficiency induces diabetes in mice through decreased pancreatic beta cell mass

(2014) Latif Rachdi et al.   DIABETOLOGIA

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Excitation/inhibition balance and learning are modified by Dyrk1a gene dosage

(2014) Benoit Souchet et al.   NEUROBIOLOGY OF DISEASE

The DCR Protein TTC3 Affects Differentiation and Golgi Compactness in Neurons through Specific Actin-Regulating Pathways

(2014) Gaia Elena Berto et al.   PLoS One

GDNF facilitates differentiation of the adult dentate gyrus-derived neural precursor cells into astrocytes via STAT3

(2013) Shuken Boku et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Mechanism of dual specificity kinase activity of DYRK1A

(2013) Agnes Walte et al.   FEBS Journal

Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome

(2013) Ariadna Laguna et al.   HUMAN MOLECULAR GENETICS

Epigallocatechin-3-gallate, a DYRK1A inhibitor, rescues cognitive deficits in Down syndrome mouse models and in humans

(2013) Rafael De la Torre et al.   MOLECULAR NUTRITION & FOOD RESEARCH

1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: Dissecting the phenotype

(2012) Kosuke Izumi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Structural Basis for Control of Eukaryotic Protein Kinases

(2012) Jane A. Endicott et al.   Annual Review of Biochemistry

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

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

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

Dyrk1A, a Serine/Threonine Kinase, is Involved in ERK and Akt Activation in the Brain of Hyperhomocysteinemic Mice

(2012) Sabiha Abekhoukh et al.   MOLECULAR NEUROBIOLOGY

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

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

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

(2012) Ronald J. Wapner et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly

(2011) BWM van Bon et al.   CLINICAL GENETICS

Features and development ofCoot

(2010) P. Emsley et al.   ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY

De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection

(2010) Julien Thevenon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

DYRK family of protein kinases: evolutionary relationships, biochemical properties, and functional roles

(2010) Sergi Aranda et al.   FASEB JOURNAL

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

MolProbity: all-atom structure validation for macromolecular crystallography

(2009) Vincent B. Chen et al.   ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY

DYRK1A interacts with the REST/NRSF-SWI/SNF chromatin remodelling complex to deregulate gene clusters involved in the neuronal phenotypic traits of Down syndrome

(2009) Aude-Marie Lepagnol-Bestel et al.   HUMAN MOLECULAR GENETICS

Negative Feedback Inhibition of NFATc1 by DYRK1A Regulates Bone Homeostasis

(2009) Youngkyun Lee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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