|
Microcephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant mental retardation-7 (MRD7) is a rare anomaly, characterized by severe intellectual disability, feeding difficulties, behavior abnormalities, and distinctive facial features, including microcephaly, deep-set eyes, large simple ears, and a pointed or bulbous nasal tip.
|
31803247 |
2019 |
|
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
In the present study, we report 10 unrelated individuals with DYRK1A-associated intellectual disability (ID) who display a recurrent pattern of clinical manifestations including primary or acquired microcephaly, ID ranging from mild to severe, speech delay or absence, seizures, autism, motor delay, deep-set eyes, poor feeding and poor weight gain.
|
25920557 |
2015 |
|
Microcephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
More recently, point mutations in DYRK1A have been shown to be responsible for a recognizable syndrome characterized by microcephaly, developmental delay and intellectual disability (ID) as well as characteristic facial features.
|
26922654 |
2016 |
|
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
The Down syndrome and microcephaly related gene Mnb/Dyrk1A encodes an evolutionary conserved protein kinase subfamily that plays important roles in neurodevelopment. minibrain (mnb) mutants of Drosophila melanogaster (Dm) exhibit reduced adult brains due to neuronal deficits generated during larval development.
|
29495936 |
2018 |
|
Microcephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we show that truncating mutations of DYRK1A result in a clinical phenotype including microcephaly.
|
18405873 |
2008 |
|
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
The human homologue (MNBH/DYRK1) of the Drosophila minibrain gene maps to human chromosome 21 within the Down syndrome (DS) critical region and is within the region minimally deleted in chromosome 21-linked microcephaly.
|
10329007 |
1999 |
|
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our data support associations between specific genes and reciprocal subphenotypes (CHD8-macrocephaly and DYRK1A-microcephaly) and replicate the importance of a β-catenin-chromatin-remodeling network to ASD etiology.
|
23160955 |
2012 |
|
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
The DYRK1A gene was studied by direct sequencing and quantitative PCR in a cohort of 105 patients with ID and at least two symptoms from the Angelman syndrome spectrum (microcephaly < -2.5 SD, ataxic gait, seizures and speech delay).
|
23099646 |
2012 |
|
Microcephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Human DYRK1A lies in the Down syndrome critical region on chromosome 21, and heterozygous mutations in the gene cause microcephaly and neurological dysfunction.
|
24922073 |
2014 |
|
Microcephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The extreme degree of microcephaly in this patient may be ascribed to the haploinsufficiency of DYRK1A, since brain size is severely reduced in heterozygotes for the Dyrk1a null mutation in mice.
|
20358607 |
2010 |
|
Microcephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations and copy number variants affecting DYRK1A gene encoding the dual-specificity tyrosine phosphorylation-regulated kinase 1A are among the most frequent genetic causes of neurodevelopmental disorders including autism spectrum disorder (ASD) associated with microcephaly, febrile seizures and severe speech acquisition delay.
|
29223763 |
2018 |
|
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
DYRK1A, dual-specificity tyrosine phosphorylation-regulated kinase 1A, which is linked to mental retardation and microcephaly, is a member of the CMGC group of kinases.
|
30137413 |
2018 |
|
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
|
25944381 |
2015 |
|
Neurodevelopmental Disorders
|
0.320 |
GeneticVariation
|
group |
BEFREE |
Mutations and copy number variants affecting DYRK1A gene encoding the dual-specificity tyrosine phosphorylation-regulated kinase 1A are among the most frequent genetic causes of neurodevelopmental disorders including autism spectrum disorder (ASD) associated with microcephaly, febrile seizures and severe speech acquisition delay.
|
29223763 |
2018 |
|
Neurodevelopmental Disorders
|
0.320 |
AlteredExpression
|
group |
BEFREE |
We also performed expression analyses using BrainSpan data for NDD-associated genes SATB2, EHMT1, FMR1, MECP2, MBD5, CTNND2, RAI1, CHD8, GRIN2A, GRIN2B, TCF4, SCN2A, and DYRK1A and find high expression of these genes in adult brain, at least comparable to developing human brain, confirming that genes associated with NDDs likely have a role in adult tissue.
|
26194112 |
2015 |
|
Epilepsy
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Because four patients previously reported with intragenic DYRK1A rearrangements or 21q22 microdeletions including only DYRK1A presented with overlapping phenotypes, we hypothesised that DYRK1A mutations could be responsible for syndromic ID with severe microcephaly and epilepsy.
|
23099646 |
2012 |
|
Down Syndrome
|
0.300 |
Biomarker
|
disease |
BEFREE |
Here, we provide some prospective views on the potential role of the p53 family in Down syndrome via miR-1246 and propose a new p53-miR-1246-DYRK1A-NFAT pathway in cancer.
|
22751441 |
2012 |
|
Down Syndrome
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Mutations in DYRK1A underlie a spectrum of human developmental disorders, and increased dosage in trisomy 21 is implicated in Down syndrome related pathologies.
|
31024071 |
2019 |
|
Down Syndrome
|
0.300 |
AlteredExpression
|
disease |
BEFREE |
In human DS LCLs, we confirmed the presence of increased protein levels of DSCR1 and DYRK1A, and showed that the levels of the transcription factor NFATc2 were decreased in DS along with a reduction of its nuclear translocation upon induction of calcium fluxes.
|
23830204 |
2013 |
|
Down Syndrome
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
However, our patient is the first patient with Down syndrome whose clinical findings were provided in detail, with a de novo derivative chromosome 21 resulting from multiple chromosome breaks excluding DYRK1A and DSCR1 gene regions.
|
22827956 |
2012 |
|
Down Syndrome
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The duplication encompasses the gene DYRK1 but not DSCR1 or DSCAM, all of which have previously been implicated in the causation of DS.
|
17237124 |
2007 |
|
Down Syndrome
|
0.300 |
Biomarker
|
disease |
BEFREE |
Generation of improved human cerebral organoids from single copy DYRK1A knockout induced pluripotent stem cells in trisomy 21: hypothetical solutions for neurodevelopmental models and therapeutic alternatives in down syndrome.
|
27743462 |
2016 |
|
Down Syndrome
|
0.300 |
Biomarker
|
disease |
BEFREE |
Furthermore, the map enabled us to present evidence against the necessary involvement of other loci as well as specific hypotheses that have been put forward in relation to the etiology of DS-i.e., the presence of a single DS consensus region and the sufficiency of DSCR1 and DYRK1A, or APP, in causing several severe DS phenotypes.
|
19597142 |
2009 |
|
Down Syndrome
|
0.300 |
AlteredExpression
|
disease |
BEFREE |
2), its homology to the mnb gene, and the in situ hybridization expression patterns of the murine Dyrk combined with the fact that transgenic mice for a YAC to which DYRK maps are mentally deficient suggest that DYRK may be involved in the abnormal neurogenesis found in Down syndrome.
|
8975710 |
1996 |
|
Down Syndrome
|
0.300 |
AlteredExpression
|
disease |
BEFREE |
These data provide a representative picture on the extent of inter-individual variation in myocardial DYRK1A-SRSF6-TNNT2 expression in the context of Down syndrome.
|
31201803 |
2019 |