(Q36718950)

15 August 2017

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

1 reference

15 August 2017

0 references

1 reference

12

1 reference

15 August 2017

9

Niels Tommerup

0 references

Maria Hoeltzenbein

Maria Hoeltzenbein

3

0 references

Ida Vogel

Ida Vogel

5

0 references

Rikke S Møller

Rikke S Møller

1

0 references

Sabine Kübart

2

Sabine Kübart

1 reference

15 August 2017

7

Corinna Menzel

1 reference

15 August 2017

8

Reinhard Ullmann

1 reference

15 August 2017

10

Hans-Hilger Ropers

1 reference

15 August 2017

Babett Heye

4

1 reference

15 August 2017

Christian P Hansen

6

1 reference

15 August 2017

Zeynep Tümer

11

1 reference

15 August 2017

language of work or name

English

0 references

publication date

10 April 2008

1 reference

American Journal of Human Genetics

15 August 2017

1 reference

15 August 2017

82

1 reference

15 August 2017

5

1 reference

15 August 2017

1165-1170

1 reference

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

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

Human chromosome 21/Down syndrome gene function and pathway database

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

An integrated map with cosmid/PAC contigs of a 4-Mb Down syndrome critical region

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

Down syndrome children often have brain with maturation delay, retardation of growth, and cortical dysgenesis.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

A case of 21q-syndrome with normal SOD-1 activity

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

Dopaminergic deficiency in mice with reduced levels of the dual-specificity tyrosine-phosphorylated and regulated kinase 1A, Dyrk1A(+/-).

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

DYRK1A BAC transgenic mice show altered synaptic plasticity with learning and memory defects.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

Motor phenotypic alterations in TgDyrk1a transgenic mice implicate DYRK1A in Down syndrome motor dysfunction

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

Possible narrowed assignment of the loci of monosomy 21-associated microcephaly and intrauterine growth retardation to a 1.2-Mb segment at 21q22.2.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427221

Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18405873

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2008.03.001

1 reference

release_couvui3fvvhwpks6qzoevfyada

15 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/couvui3fvvhwpks6qzoevfyada

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

15 August 2017

PubMed publication ID

18405873

1 reference