Search Results - "Duk, Katarzyna"
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The Epidermal Transcriptome Analysis of a Novel c.639_642dup LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology
Published in International journal of molecular sciences (29-05-2023)“…Loricrin keratoderma (LK) is a rare autosomal dominant genodermatosis caused by gene mutations. The pathogenesis of the disease is not yet fully understood. So…”
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New Endohyphal Relationships between Mucoromycota and Burkholderiaceae Representatives
Published in Applied and environmental microbiology (11-03-2021)“…Mucoromycota representatives are known to harbor two types of endohyphal bacteria (EHB)- -related endobacteria (BRE) and -related endobacteria (MRE). While…”
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The expression of circulating miR-504 in plasma is associated with EGFR mutation status in non-small-cell lung carcinoma patients
Published in Cellular and molecular life sciences : CMLS (01-09-2019)“…MicroRNAs (miRNAs), key regulators of gene expression at the post-transcriptional level, are grossly misregulated in some human cancers, including…”
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The Epidermal Transcriptome Analysis of a Novel c.639_642dup ILORICRIN/I Variant-Delineation of the Loricrin Keratoderma Pathology
Published in International journal of molecular sciences (01-05-2023)“…Loricrin keratoderma (LK) is a rare autosomal dominant genodermatosis caused by LORICRIN gene mutations. The pathogenesis of the disease is not yet fully…”
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Detection of EGFR mutations in liquid biopsy samples using allele-specific quantitative PCR: A comparative real-world evaluation of two popular diagnostic systems
Published in Advances in medical sciences (01-09-2021)“…The detection of epidermal growth factor receptor (EGFR) mutations in plasma cell-free DNA (cfDNA) is an auxiliary tool for the molecular diagnosis of…”
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Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings
Published in Orphanet journal of rare diseases (05-11-2024)“…The Mendelian Disorders of Cornification (MeDOC) comprise a large number of disorders that present with either localised (palmoplantar keratoderma, PPK) or…”
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