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Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons

Molecular medicine (Cambridge, Mass.), 2018-05, Vol.24 (1), p.25-25, Article 25

2018

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Schmidtea mediterranea as a Model Organism to Study the Molecular Background of Human Motile Ciliopathies

International journal of molecular sciences, 2023-02, Vol.24 (5), p.4472

2023

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Translational readthrough potential of natural termination codons in eucaryotes - The impact of RNA sequence

RNA biology, 2015-09, Vol.12 (9), p.950-958

2015

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The effect of library preparation protocol on the efficiency of heteroplasmy detection in mitochondrial DNA using two massively parallel sequencing Illumina systems

Journal of applied genetics, 2024-09, Vol.65 (3), p.559-563

2024

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Discrimination between human populations using a small number of differentially methylated CpG sites: a preliminary study using lymphoblastoid cell lines and peripheral blood samples of European and Chinese origin

BMC genomics, 2020-10, Vol.21 (1), p.706-706, Article 706

2020

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Perspectives for Primary Ciliary Dyskinesia

International journal of molecular sciences, 2022-04, Vol.23 (8), p.4122

2022

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Recent advances in primary ciliary dyskinesia genetics

Journal of Medical Genetics, 2015-01, Vol.52 (1), p.1-9

2015

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Sex contribution to average age at onset of Huntington’s disease depends on the number of (CAG)n repeats

Scientific reports, 2024-07, Vol.14 (1), p.15729-9, Article 15729

2024

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Properties of Non-Aminoglycoside Compounds Used to Stimulate Translational Readthrough of PTC Mutations in Primary Ciliary Dyskinesia

International journal of molecular sciences, 2021-05, Vol.22 (9), p.4923

2021

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European context of the diversity and phylogenetic position of SARS-CoV-2 sequences from Polish COVID-19 patients

Journal of applied genetics, 2021-05, Vol.62 (2), p.327-337

2021

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Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants

Journal of applied genetics, 2022-12, Vol.63 (4), p.691-701

2022

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In vitro differentiation of ciliated cells in ALI-cultured human airway epithelium – The framework for functional studies on airway differentiation in ciliopathies

European journal of cell biology, 2022-01, Vol.101 (1), p.151189-151189, Article 151189

2022

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Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife

Kidney international, 2021-06, Vol.99 (6), p.1451-1458

2021

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RPGR mutations might cause reduced orientation of respiratory cilia

Pediatric pulmonology, 2013-04, Vol.48 (4), p.352-363

2013

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CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients

PloS one, 2014-02, Vol.9 (2), p.e89094-e89094

2014

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The hero of American and Polish nations: a molecular look at Thaddeus Kosciuszko’s cause of death suggests a contribution of endocarditis caused by Cutibacterium acnes infection

Microbial cell factories, 2022-11, Vol.21 (1), p.1-245, Article 245

2022

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Impact of SNPs on methylation readouts by Illumina Infinium HumanMethylation450 BeadChip Array: implications for comparative population studies

BMC genomics, 2015-11, Vol.16 (1), p.1003-1003, Article 1003

2015

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Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients

PloS one, 2014-02, Vol.9 (2), p.e88216-e88216

2014

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ZMYND10--Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia

PloS one, 2016-01, Vol.11 (1), p.e0148067-e0148067

2016

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Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients

PloS one, 2012-03, Vol.7 (3), p.e33667-e33667

2012

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Current genetic methodologies in the identification of disaster victims and in forensic analysis

Journal of applied genetics, 2012-02, Vol.53 (1), p.41-60

2012

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DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm

American journal of human genetics, 2008-11, Vol.83 (5), p.547-558

2008

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Effects of age and gender on micronucleus and chromosome nondisjunction frequencies in centenarians and younger subjects

Mutagenesis, 2007-05, Vol.22 (3), p.195-200

2007

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Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD)

Respiratory research, 2010-12, Vol.11 (1), p.174-174, Article 174

2010

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Association of germline genetic variants in RFC, IL15 and VDR genes with minimal residual disease in pediatric B-cell precursor ALL

Scientific reports, 2016-07, Vol.6 (1), p.29427-29427, Article 29427

2016

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Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons

Schmidtea mediterranea as a Model Organism to Study the Molecular Background of Human Motile Ciliopathies

Translational readthrough potential of natural termination codons in eucaryotes - The impact of RNA sequence

The effect of library preparation protocol on the efficiency of heteroplasmy detection in mitochondrial DNA using two massively parallel sequencing Illumina systems

Discrimination between human populations using a small number of differentially methylated CpG sites: a preliminary study using lymphoblastoid cell lines and peripheral blood samples of European and Chinese origin

Perspectives for Primary Ciliary Dyskinesia

Recent advances in primary ciliary dyskinesia genetics

Sex contribution to average age at onset of Huntington’s disease depends on the number of (CAG)n repeats

Properties of Non-Aminoglycoside Compounds Used to Stimulate Translational Readthrough of PTC Mutations in Primary Ciliary Dyskinesia

European context of the diversity and phylogenetic position of SARS-CoV-2 sequences from Polish COVID-19 patients

Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants

In vitro differentiation of ciliated cells in ALI-cultured human airway epithelium – The framework for functional studies on airway differentiation in ciliopathies

Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife

RPGR mutations might cause reduced orientation of respiratory cilia

CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients

The hero of American and Polish nations: a molecular look at Thaddeus Kosciuszko’s cause of death suggests a contribution of endocarditis caused by Cutibacterium acnes infection

Impact of SNPs on methylation readouts by Illumina Infinium HumanMethylation450 BeadChip Array: implications for comparative population studies

Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients

ZMYND10--Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia

Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients

Current genetic methodologies in the identification of disaster victims and in forensic analysis

DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm

Effects of age and gender on micronucleus and chromosome nondisjunction frequencies in centenarians and younger subjects

Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD)

Association of germline genetic variants in RFC, IL15 and VDR genes with minimal residual disease in pediatric B-cell precursor ALL

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