Maja Dembic

Odense, Denmark

Last Updated: 09/26/2026

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Found 18 publications

Somatic mutational landscape in von Hippel-Lindau familial hemangioblastoma.

Somatic mutational landscape in von Hippel-Lindau familial hemangioblastoma.

Journal: Molecular oncology

Published: September 24, 2025

Aortic Aneurysm Risk and the Somatic JAK2 V617F Mutation: Insights From a Multicenter, Population-Based Cardiovascular Screening Study.

Aortic Aneurysm Risk and the Somatic JAK2 V617F Mutation: Insights From a Multicenter, Population-Based Cardiovascular Screening Study.

Journal: Circulation

Published: June 04, 2025

Targeting the pyruvate dehydrogenase kinase/pyruvate dehydrogenase axis modulates neutrophil and smooth muscle cell pathological responses and prevents abdominal aortic aneurysm formation.

Targeting the pyruvate dehydrogenase kinase/pyruvate dehydrogenase axis modulates neutrophil and smooth muscle cell pathological responses and prevents abdominal aortic aneurysm formation.

Journal: Cardiovascular research

Published: January 19, 2025

Mutational landscape of atherosclerotic plaques reveals large clonal cell populations.

Mutational landscape of atherosclerotic plaques reveals large clonal cell populations.

Journal: JCI insight

Published: October 21, 2024

Splice-Switching Antisense Oligonucleotides Correct Phenylalanine Hydroxylase Exon 11 Skipping Defects and Rescue Enzyme Activity in Phenylketonuria.

Splice-Switching Antisense Oligonucleotides Correct Phenylalanine Hydroxylase Exon 11 Skipping Defects and Rescue Enzyme Activity in Phenylketonuria.

Journal: Nucleic acid therapeutics

Published: April 09, 2024

Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia.

Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia.

Journal: Molecular therapy. Nucleic acids

Published: July 10, 2023

Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing.

Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing.

Journal: Frontiers in genetics

Published: June 15, 2022

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Journal: Molecular genetics and genomics : MGG

Published: January 17, 2022

Synchronous detection of pancreatic adenocarcinoma and paraganglioma in a Whipple resection specimen.

Synchronous detection of pancreatic adenocarcinoma and paraganglioma in a Whipple resection specimen.

Journal: Pathology, research and practice

Published: July 18, 2021

Down-Regulation of CK2α Leads toUp-Regulation of the Cyclin-Dependent Kinase Inhibitor p27KIP1 in Conditions Unfavorable for the Growth of Myoblast Cells.

Down-Regulation of CK2α Leads toUp-Regulation of the Cyclin-Dependent Kinase Inhibitor p27KIP1 in Conditions Unfavorable for the Growth of Myoblast Cells.

Journal: Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology

Published: November 04, 2020

Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease.

Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease.

Journal: Molecular genetics and metabolism

Published: August 10, 2018

Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.

Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.

Journal: PLoS genetics

Published: November 17, 2017

Showing 1-12 of 18

Last Updated: 09/26/2026