Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. (Q36184569)

12 August 2017

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. (English)

1 reference

12 August 2017

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intellectual disability

1 reference

syndromic intellectual disability

inferred from title

1 reference

disability affecting intellectual abilities

inferred from title

1 reference

1 reference

Julien Thevenon

9

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Amélie Piton

object named as

Amélie Piton

4

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Sandrine Passemard

6

object named as

Sandrine Passemard

1 reference

12 August 2017

3

Severine Drunat

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12 August 2017

18

Jean-Louis Mandel

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12 August 2017

7

Clarisse Baumann

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12 August 2017

2

Claire Redin

1 reference

12 August 2017

13

Christine Francannet

1 reference

12 August 2017

Lucas M Bronicki

1

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12 August 2017

Michael Lyons

5

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12 August 2017

Laurence Faivre

8

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12 August 2017

Jean-Baptiste Rivière

10

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12 August 2017

Bertrand Isidor

11

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12 August 2017

Grace Gan

12

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12 August 2017

Marjolaine Willems

14

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12 August 2017

Murat Gunel

15

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12 August 2017

Julie R Jones

16

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12 August 2017

Joseph G Gleeson

17

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12 August 2017

Roger E Stevenson

19

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12 August 2017

Michael J Friez

20

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12 August 2017

Arthur S Aylsworth

21

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12 August 2017

29 April 2015

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European Journal of Human Genetics

12 August 2017

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12 August 2017

23

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12 August 2017

11

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12 August 2017

1482-1487

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2015.29

12 August 2017

0 references

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The Down syndrome-related protein kinase DYRK1A phosphorylates p27(Kip1) and Cyclin D1 and induces cell cycle exit and neuronal differentiation

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

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Gene dosage-dependent association of DYRK1A with the cytoskeleton in the brain and lymphocytes of down syndrome patients

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Phosphorylation by Dyrk1A of clathrin coated vesicle-associated proteins: identification of the substrate proteins and the effects of phosphorylation

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

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MNB/DYRK1A as a multiple regulator of neuronal development

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

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1 October 2017

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1 October 2017

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DYRK1A and DYRK3 promote cell survival through phosphorylation and activation of SIRT1

1 October 2017

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1 October 2017

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1 October 2017

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1 October 2017

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Impaired spatial learning strategies and novel object recognition in mice haploinsufficient for the dual specificity tyrosine-regulated kinase-1A (Dyrk1A).

1 October 2017

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

1 October 2017

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The MNB/DYRK1A protein kinase: genetic and biochemical properties

1 October 2017

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1 October 2017

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7 January 2021

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

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Identification of the autophosphorylation sites and characterization of their effects in the protein kinase DYRK1A

1 October 2017

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1 October 2017

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A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613470

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613470

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.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613470

Haploinsufficiency of Dyrk1A in mice leads to specific alterations in the development and regulation of motor activity.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613470

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

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613470

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

2 July 2018

1 reference

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

23 September 2018

1 reference

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Dyrk1A influences neuronal morphogenesis through regulation of cytoskeletal dynamics in mammalian cortical neurons.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613470

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613470

Microdeletion of the Down syndrome critical region at 21q22.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613470

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613470

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613470

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.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613470

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613470

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613470

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

23 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25920557

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/EJHG.2015.29

1 reference

12 August 2017

1 reference

12 August 2017

1 reference