Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.K188R
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DYRK1A

NM_001396.5:p.K188R

Associated Papers

Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels.

Murray A et al.

Ebiomedicine, 2023

A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay.

Lee KS et al.

Scientific Reports, 2020

A comprehensive proteomics-based interaction screen that links DYRK1A to RNF169 and to the DNA damage response.

Roewenstrunk J et al.

Scientific Reports, 2019

30979931 (PubMed )
Supplement: 41598_2019_42445_MOESM1_ESM.pdf

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

Ji J et al.

European Journal of Human Genetics : Ejhg, 2015

Increased dosage of the chromosome 21 ortholog Dyrk1a promotes megakaryoblastic leukemia in a murine model of Down syndrome.

Malinge S et al.

The Journal of Clinical Investigation, 2012

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

Hämmerle B et al.

Development (cambridge, England), 2011

DYRK1A protein kinase promotes quiescence and senescence through DREAM complex assembly.

Litovchick L et al.

Genes & Development, 2011

Direct association of Sprouty-related protein with an EVH1 domain (SPRED) 1 or SPRED2 with DYRK1A modifies substrate/kinase interactions.

Li D et al.

The Journal of Biological Chemistry, 2010

Regulated segregation of kinase Dyrk1A during asymmetric neural stem cell division is critical for EGFR-mediated biased signaling.

Ferron SR et al.

Cell Stem Cell, 2010

The protein kinase DYRK1A regulates caspase-9-mediated apoptosis during retina development.

Laguna A et al.

Developmental Cell, 2008

DYRK1A accumulates in splicing speckles through a novel targeting signal and induces speckle disassembly.

Alvarez M et al.

Journal of Cell Science, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."