(Q36184564)

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

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scholarly article

1 reference

Europe PubMed Central

12 August 2017

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

1 reference

Europe PubMed Central

12 August 2017

0 references

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haploinsufficiency

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intellectual disability

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

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based on heuristic

inferred from title

Cédric Le Caignec

13

object named as

Cédric Le Caignec

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Louanne Hudgins

10

object named as

Louanne Hudgins

1 reference

Europe PubMed Central

12 August 2017

A. Micheil Innes

30

object named as

A Micheil Innes

1 reference

Europe PubMed Central

12 August 2017

15

object named as

Ewa Obersztyn

1 reference

Europe PubMed Central

12 August 2017

Stanley F Nelson

31

object named as

Stanley F Nelson

1 reference

Europe PubMed Central

12 August 2017

author name string

Jianling Ji

1

1 reference

Europe PubMed Central

12 August 2017

Hane Lee

2

1 reference

Europe PubMed Central

12 August 2017

Bob Argiropoulos

3

1 reference

Europe PubMed Central

12 August 2017

Naghmeh Dorrani

4

1 reference

Europe PubMed Central

12 August 2017

John Mann

5

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Europe PubMed Central

12 August 2017

Julian A Martinez-Agosto

6

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Europe PubMed Central

12 August 2017

Natalia Gomez-Ospina

7

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Europe PubMed Central

12 August 2017

Natalie Gallant

8

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Europe PubMed Central

12 August 2017

Jonathan A Bernstein

9

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Europe PubMed Central

12 August 2017

Leah Slattery

11

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Europe PubMed Central

12 August 2017

Bertrand Isidor

12

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Europe PubMed Central

12 August 2017

Albert David

14

1 reference

Europe PubMed Central

12 August 2017

Barbara Wiśniowiecka-Kowalnik

16

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Europe PubMed Central

12 August 2017

Michelle Fox

17

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12 August 2017

Joshua L Deignan

18

1 reference

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12 August 2017

Eric Vilain

19

1 reference

Europe PubMed Central

12 August 2017

Emily Hendricks

20

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Europe PubMed Central

12 August 2017

Margaret Horton Harr

21

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Europe PubMed Central

12 August 2017

Sarah E Noon

22

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Europe PubMed Central

12 August 2017

Jessi R Jackson

23

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Europe PubMed Central

12 August 2017

Alisha Wilkens

24

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Europe PubMed Central

12 August 2017

Ghayda Mirzaa

25

1 reference

Europe PubMed Central

12 August 2017

Noriko Salamon

26

1 reference

Europe PubMed Central

12 August 2017

Jeff Abramson

27

1 reference

Europe PubMed Central

12 August 2017

Elaine H Zackai

28

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Europe PubMed Central

12 August 2017

Ian Krantz

29

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Europe PubMed Central

12 August 2017

Wayne W Grody

32

1 reference

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12 August 2017

Fabiola Quintero-Rivera

33

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12 August 2017

publication date

6 May 2015

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Europe PubMed Central

12 August 2017

European Journal of Human Genetics

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Europe PubMed Central

12 August 2017

23

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Europe PubMed Central

12 August 2017

11

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12 August 2017

1473-1481

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12 August 2017

https://scigraph.springernature.com/pub.10.1038/ejhg.2015.71

0 references

Clinical exome sequencing for genetic identification of rare Mendelian disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

Activity-dependent facilitation of Synaptojanin and synaptic vesicle recycling by the Minibrain kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

The DCR protein TTC3 affects differentiation and Golgi compactness in neurons through specific actin-regulating pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

Prenatal treatment of Down syndrome: a reality?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

Chromosomal microarray versus karyotyping for prenatal diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

Minibrain/Dyrk1a regulates food intake through the Sir2-FOXO-sNPF/NPY pathway in Drosophila and mammals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

Gene expression changes in the MAPK pathway in both Fragile X and Down syndrome human neural progenitor cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

The structural basis for control of eukaryotic protein kinases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

MNB/DYRK1A as a multiple regulator of neuronal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

Activation, regulation, and inhibition of DYRK1A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

Features and development of Coot

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

MolProbity: all-atom structure validation for macromolecular crystallography

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

Negative feedback Inhibition of NFATc1 by DYRK1A regulates bone homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

Activation-loop autophosphorylation is mediated by a novel transitional intermediate form of DYRKs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

DYRK1A enhances the mitogen-activated protein kinase cascade in PC12 cells by forming a complex with Ras, B-Raf, and MEK1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

The Down syndrome critical region.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

Sequence characteristics, subcellular localization, and substrate specificity of DYRK-related kinases, a novel family of dual specificity protein kinases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

Isolation of human and murine homologues of the Drosophila minibrain gene: human homologue maps to 21q22.2 in the Down syndrome "critical region"

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

Dyrk, a dual specificity protein kinase with unique structural features whose activity is dependent on tyrosine residues between subdomains VII and VIII

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

2 July 2018

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

2 July 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

2 July 2018

minibrain: a new protein kinase family involved in postembryonic neurogenesis in Drosophila

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

2 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

23 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

23 September 2018

Mechanism of dual specificity kinase activity of DYRK1A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

23 September 2018

Dyrk1A, a serine/threonine kinase, is involved in ERK and Akt activation in the brain of hyperhomocysteinemic mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

23 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

23 September 2018

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

23 September 2018

Microdeletion of the Down syndrome critical region at 21q22.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

23 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

23 September 2018

BDNF selectively regulates GABAA receptor transcription by activation of the JAK/STAT pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

23 September 2018

DYRK1A (dual-specificity tyrosine-phosphorylated and -regulated kinase 1A): a gene with dosage effect during development and neurogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

23 September 2018

Alterations in the phenotype of neocortical pyramidal cells in the Dyrk1A+/- mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

23 September 2018

Unusual function of the activation loop in the protein kinase DYRK1A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613469

23 September 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25944381

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25944381

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25944381

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2015.71

1 reference

Europe PubMed Central

12 August 2017

1 reference

Europe PubMed Central

12 August 2017

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Europe PubMed Central

12 August 2017

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