(Q34964947)

5 August 2017

4 references

22 April 2019

25 April 2019

12 October 2019

6 July 2020

Down syndrome--recent progress and future prospects (English)

1 reference

5 August 2017

4 references

22 April 2019

25 April 2019

12 October 2019

6 July 2020

1 reference

12 October 2019

Frances K Wiseman

1

0 references

Elizabeth M. C. Fisher

series ordinal

4

object named as

Elizabeth M C Fisher

1 reference

5 August 2017

Kate A Alford

2

1 reference

5 August 2017

Victor L J Tybulewicz

series ordinal

3

1 reference

5 August 2017

language of work or name

1 reference

1 April 2009

1 reference

5 August 2017

15 April 2009

4 references

22 April 2019

25 April 2019

12 October 2019

6 July 2020

Human Molecular Genetics

5 references

5 August 2017

22 April 2019

25 April 2019

12 October 2019

6 July 2020

18

1 reference

5 August 2017

issue

R1

1 reference

5 August 2017

page(s)

R75-83

1 reference

Creative Commons Attribution-NonCommercial

5 August 2017

copyright license

4 references

22 April 2019

25 April 2019

12 October 2019

6 July 2020

on focus list of Wikimedia project

ScienceSource

0 references

cites work

A neural crest deficit in Down syndrome mice is associated with deficient mitotic response to Sonic hedgehog

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Prevention of developmental delays in a Down syndrome mouse model

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

The key role of stem cell factor/KIT signaling in the proliferation of blast cells from Down syndrome-related leukemia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Trisomy 21 enhances human fetal erythro-megakaryocytic development

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Inducing segmental aneuploid mosaicism in the mouse through targeted asymmetric sister chromatid event of recombination

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Activating mutations in human acute megakaryoblastic leukemia.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

The role of overexpressed DYRK1A protein in the early onset of neurofibrillary degeneration in Down syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Sprouty2-mediated inhibition of fibroblast growth factor signaling is modulated by the protein kinase DYRK1A.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Identification of loci associated with schizophrenia by genome-wide association and follow-up

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Large recurrent microdeletions associated with schizophrenia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Increased dosage of Dyrk1A alters alternative splicing factor (ASF)-regulated alternative splicing of tau in Down syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Preservation of long-term memory and synaptic plasticity despite short-term impairments in the Tc1 mouse model of Down syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Overexpression of Dyrk1A contributes to neurofibrillary degeneration in Down syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Common variants near MC4R are associated with fat mass, weight and risk of obesity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Decrease of protein phosphatase 2A and its association with accumulation and hyperphosphorylation of tau in Down syndrome.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Human chromosome 21-derived miRNAs are overexpressed in down syndrome brains and hearts

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Dual-specificity tyrosine(Y)-phosphorylation regulated kinase 1A-mediated phosphorylation of amyloid precursor protein: evidence for a functional link between Down syndrome and Alzheimer's disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

DYRK1A-mediated hyperphosphorylation of Tau. A functional link between Down syndrome and Alzheimer disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Highly penetrant myeloproliferative disease in the Ts65Dn mouse model of Down syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Association between genetic variants in sortilin-related receptor 1 (SORL1) and Alzheimer's disease in adults with Down syndrome.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Dyrk1A overexpression in immortalized hippocampal cells produces the neuropathological features of Down syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

What is a gene, post-ENCODE? History and updated definition

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Trisomy of chromosome 21 in leukemogenesis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Gene expression variation in Down's syndrome mice allows prioritization of candidate genes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Trisomy for the Down syndrome 'critical region' is necessary but not sufficient for brain phenotypes of trisomic mice.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Cre/loxP-mediated chromosome engineering of the mouse genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

The DYRK1A gene, encoded in chromosome 21 Down syndrome critical region, bridges between beta-amyloid production and tau phosphorylation in Alzheimer disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Novel activating JAK2 mutation in a patient with Down syndrome and B-cell precursor acute lymphoblastic leukemia.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

The proteins of human chromosome 21.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

New techniques to understand chromosome dosage: mouse models of aneuploidy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Alpha- and beta-secretase activity as a function of age and beta-amyloid in Down syndrome and normal brain

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Activating alleles of JAK3 in acute megakaryoblastic leukemia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organization

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Hippocampal hypocellularity in the Ts65Dn mouse originates early in development

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

RCAN1 (DSCR1 or Adapt78) stimulates expression of GSK-3beta.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

The protein kinase DYRK1A phosphorylates the splicing factor SF3b1/SAP155 at Thr434, a novel in vivo phosphorylation site

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

A genome-wide Drosophila RNAi screen identifies DYRK-family kinases as regulators of NFAT

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Defective cerebellar response to mitogenic Hedgehog signaling in Down [corrected] syndrome mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Abnormal expression of the G-protein-activated inwardly rectifying potassium channel 2 (GIRK2) in hippocampus, frontal cortex, and substantia nigra of Ts65Dn mouse: a model of Down syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Chromosome 21 and down syndrome: from genomics to pathophysiology

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

A chromosome 21 critical region does not cause specific Down syndrome phenotypes.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Mnb/Dyrk1A phosphorylation regulates the interaction of dynamin 1 with SH3 domain-containing proteins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Mutagenic insertion and chromosome engineering resource (MICER).

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

MicroRNAs: genomics, biogenesis, mechanism, and function

8 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

8 July 2018

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Characterization of cyclin L2, a novel cyclin with an arginine/serine-rich domain: phosphorylation by DYRK1A and colocalization with splicing factors

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Behavioral comparison of 4 and 6 month-old Ts65Dn mice: age-related impairments in working and reference memory

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Estrogen restores cognition and cholinergic phenotype in an animal model of Down syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Pattern of malignant disorders in individuals with Down's syndrome.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Failed retrograde transport of NGF in a mouse model of Down's syndrome: reversal of cholinergic neurodegenerative phenotypes following NGF infusion

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Chronic overexpression of the calcineurin inhibitory gene DSCR1 (Adapt78) is associated with Alzheimer's disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

The kinase DYRK phosphorylates protein-synthesis initiation factor eIF2Bepsilon at Ser539 and the microtubule-associated protein tau at Thr212: potential role for DYRK as a glycogen synthase kinase 3-priming kinase

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Loss of cholinergic phenotype in basal forebrain coincides with cognitive decline in a mouse model of Down's syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

International variation in reported livebirth prevalence rates of Down syndrome, adjusted for maternal age.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Population-based study of the prevalence and presentation of dementia in adults with Down's syndrome.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Developmental abnormalities and age-related neurodegeneration in a mouse model of Down syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Human aneuploidy: incidence, origin, and etiology

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Nerve growth factor reverses neuronal atrophy in a Down syndrome model of age-related neurodegeneration

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Long-lasting potentiation of synaptic transmission in the dentate area of the anaesthetized rabbit following stimulation of the perforant path

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

A prospective study of Alzheimer disease in Down syndrome.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Down syndrome: MR quantification of brain structures and comparison with normal control subjects

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Duplication of the entire 22.9 Mb human chromosome 21 syntenic region on mouse chromosome 16 causes cardiovascular and gastrointestinal abnormalities.

8 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

MNB/DYRK1A phosphorylation regulates the interactions of synaptojanin 1 with endocytic accessory proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Dyrk1A phosphorylates alpha-synuclein and enhances intracellular inclusion formation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Neurogenesis impairment and increased cell death reduce total neuron number in the hippocampal region of fetuses with Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Cell cycle alteration and decreased cell proliferation in the hippocampal dentate gyrus and in the neocortical germinal matrix of fetuses with Down syndrome and in Ts65Dn mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Fluoxetine rescues deficient neurogenesis in hippocampus of the Ts65Dn mouse model for Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Parallels of craniofacial maldevelopment in Down syndrome and Ts65Dn mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Effects of aneuploidy on skull growth in a mouse model of Down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Effects of overexpression of Sim2 on spatial memory and expression of synapsin I in rat hippocampus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Speeding of miniature excitatory post-synaptic currents in Ts65Dn cultured hippocampal neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Ts65Dn, a mouse model of Down syndrome, exhibits increased GABAB-induced potassium current.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Synaptic and cognitive abnormalities in mouse models of Down syndrome: exploring genotype-phenotype relationships

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Prevalence of dementia and impact on intellectual disability services.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Minocycline prevents cholinergic loss in a mouse model of Down's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Axonal abnormalities in cerebellar Purkinje cells of the Ts65Dn mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Abnormal APP, cholinergic and cognitive function in Ts65Dn Down's model mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

RCAN1 (DSCR1) increases neuronal susceptibility to oxidative stress: a potential pathogenic process in neurodegeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Postnatal lethality and cardiac anomalies in the Ts65Dn Down syndrome mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Abnormalities in the myeloid progenitor compartment in Down syndrome fetal liver precede acquisition of GATA1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Cytogenetic features of acute lymphoblastic and myeloid leukemias in pediatric patients with Down syndrome: an iBFM-SG study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Trisomy represses Apc Min -mediated tumours in mouse models of Down’s syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Low blood pressure in Down's syndrome, A link with Alzheimer's disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Differences in cardiovascular disease risk between nondiabetic adults with mental retardation with and without Down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Acute injections of the NMDA receptor antagonist memantine rescue performance deficits of the Ts65Dn mouse model of Down syndrome on a fear conditioning test.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Excitatory-inhibitory relationship in the fascia dentata in the Ts65Dn mouse model of Down syndrome

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Specific JAK2 mutation (JAK2R683) and multiple gene deletions in Down syndrome acute lymphoblastic leukemia.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Microstructure of trabecular bone in a mouse model for Down syndrome

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

The prevalence of Down syndrome in County Galway.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Increased App expression in a mouse model of Down's syndrome disrupts NGF transport and causes cholinergic neuron degeneration.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

DSCR1(Adapt78)--a Janus gene providing stress protection but causing Alzheimer's disease?

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Incidence and course of dementia in people with Down's syndrome: findings from a population-based study.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Fetal loss in Down syndrome pregnancies

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

MRI volumes of the hippocampus and amygdala in adults with Down's syndrome with and without dementia.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

MRI brain changes in subjects with Down syndrome with and without dementia.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Cerebellar volume in adults with Down syndrome.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

Pathological evidence for neurotransmitter deficits in Down's syndrome of middle age.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

The changing survival profile of people with Down's syndrome: implications for genetic counselling

26 October 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP010

Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657943

The prevalence of dementia in Down syndrome

9 December 2018

1 reference

12 December 2020

The incidence patterns of Down syndrome in Qatar

1 reference

12 December 2020

Incidence of Down syndrome in Dubai, UAE

1 reference

12 December 2020

JAK3 mutations occur in acute megakaryoblastic leukemia both in Down syndrome children and non-Down syndrome adults

1 reference

12 December 2020

Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome

1 reference

12 December 2020

Differential effects of trisomy on brain shape and volume in related aneuploid mouse models

1 reference

12 December 2020

Janus kinase mutations in the development of acute megakaryoblastic leukemia in children with and without Down's syndrome

1 reference

12 December 2020

Characterization of the cardiac phenotype in neonatal Ts65Dn mice

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDP010

1 reference

5 August 2017

1 reference

5 August 2017

1 reference