Dita Musalkova

Prague, PR, Czech Republic

Last Updated: 09/26/2026

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Found 25 publications

Recurrent Single-Nucleotide Insertions in the Mitochondrial Second Light-Strand Promoter Cause Tubulointerstitial Kidney Disease.

Recurrent Single-Nucleotide Insertions in the Mitochondrial Second Light-Strand Promoter Cause Tubulointerstitial Kidney Disease.

Journal: medRxiv : the preprint server for health sciences

Published: August 20, 2026

Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression.

Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression.

Journal: bioRxiv : the preprint server for biology

Published: September 26, 2025

Single-Molecule Real-Time Sequencing for MUC1 VNTR Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis.

Single-Molecule Real-Time Sequencing for MUC1 VNTR Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis.

Journal: Journal of the American Society of Nephrology : JASN

Published: August 27, 2025

Single-Molecule Real-Time Sequencing for MUC1 Variable Number of Tandem Repeat Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis.

Single-Molecule Real-Time Sequencing for MUC1 Variable Number of Tandem Repeat Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis.

Journal: Journal of the American Society of Nephrology : JASN

Published: August 27, 2025

A missense mutation in the SAA1 protein causing hereditary amyloid A amyloidosis.

A missense mutation in the SAA1 protein causing hereditary amyloid A amyloidosis.

Journal: Kidney international

Published: July 24, 2025

Plasma Metabolites Associated with CKD Stage in Autosomal Dominant Tubulointerstitial Kidney Disease.

Plasma Metabolites Associated with CKD Stage in Autosomal Dominant Tubulointerstitial Kidney Disease.

Journal: Kidney360

Published: May 22, 2025

Misprocessing of α -Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response.

Misprocessing of α -Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response.

Journal: Journal of the American Society of Nephrology : JASN

Published: May 17, 2024

A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis.

A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis.

Journal: Kidney international reports

Published: January 12, 2024

Spontaneous nonsense mutation in the tuftelin 1 gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat.

Spontaneous nonsense mutation in the tuftelin 1 gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat.

Journal: Physiological genomics

Published: November 13, 2023

Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy.

Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy.

Journal: ESC heart failure

Published: October 23, 2023

Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.

Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.

Journal: Genes, brain, and behavior

Published: May 19, 2023

Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 2022.

Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 2022.

Journal: Scientific reports

Published: October 05, 2022

Showing 1-12 of 25

Last Updated: 09/26/2026