WorldCat Identities

Stokowy, Tomasz

Overview
Works: 10 works in 10 publications in 1 language and 18 library holdings
Roles: Author, Other, Contributor
Publication Timeline
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Most widely held works by Tomasz Stokowy
Screening for viral nucleic acids in vestibular schwannoma by Aril Løge Håvik( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

Molecular differential diagnosis of follicular thyroid carcinoma and adenoma based on gene expression profiling by using formalin-fixed paraffin-embedded tissues by Aleksandra Pfeifer( )

1 edition published in 2013 in English and held by 2 WorldCat member libraries worldwide

<> by Katarzyna Szołtysek( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies by Peer Arts( )

1 edition published in 2019 in English and held by 2 WorldCat member libraries worldwide

Genetic variation in 117 myelination-related genes in schizophrenia: Replication of association to lipid biosynthesis genes by Tomasz Stokowy( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

Two-miRNA classifiers differentiate mutation-negative follicular thyroid carcinomas and follicular thyroid adenomas in fine needle aspirations with high specificity by Tomasz Stokowy( )

1 edition published in 2016 in English and held by 2 WorldCat member libraries worldwide

Comparison of three variant callers for human whole genome sequencing by Anna Supernat( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome by Cecilie Bredrup( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

Reduced expression of OXPHOS and DNA damage genes is linked to protection from microvascular complications in long-term type 1 diabetes the PROLONG study by Türküler Özgümüş( )

1 edition published in 2021 in English and held by 1 WorldCat member library worldwide

Type 1 diabetes is a chronic autoimmune disease requiring insulin treatment for survival. Prolonged duration of type 1 diabetes is associated with increased risk of microvascular complications. Although chronic hyperglycemia and diabetes duration have been considered as the major risk factors for vascular complications, this is not universally seen among all patients. Persons with long-term type 1 diabetes who have remained largely free from vascular complications constitute an ideal group for investigation of natural defense mechanisms against prolonged exposure of diabetes. Transcriptomic signatures obtained from RNA sequencing of the peripheral blood cells were analyzed in non-progressors with more than 30 years of diabetes duration and compared to the patients who progressed to microvascular complications within a shorter duration of diabetes. Analyses revealed that non-progressors demonstrated a reduction in expression of the oxidative phosphorylation (OXPHOS) genes, which were positively correlated with the expression of DNA repair enzymes, namely genes involved in base excision repair (BER) machinery. Reduced expression of OXPHOS and BER genes was linked to decrease in expression of inflammation-related genes, higher glucose disposal rate and reduced measures of hepatic fatty liver. Results from the present study indicate that at transcriptomic level reduction in OXPHOS, DNA repair and inflammation-related genes is linked to better insulin sensitivity and protection against microvascular complications in persons with long-term type 1 diabetes
Somatic mutation profiling of follicular thyroid cancer by next generation sequencing( )

1 edition published in 2016 in English and held by 1 WorldCat member library worldwide

Abstract: The molecular etiology of follicular thyroid tumors is largely unknown, rendering the diagnostics of these tumors challenging. The somatic alterations present in these tumors apart from RAS gene mutations and PAX8 / PPARG translocations are not well described. To evaluate the profile of somatic alteration in follicular thyroid tumors, a total of 82 thyroid tissue samples derived from 48 patients were subjected to targeted Illumina HiSeq next generation sequencing of 372 cancer-related genes. New somatic alterations were identified in oncogenes (MDM2, FLI1), transcription factors and repressors (MITF, FLI1, ZNF331), epigenetic enzymes (KMT2A, NSD1, NCOA1, NCOA2), and protein kinases (JAK3, CHEK2, ALK). Single nucleotide and large structural variants were most and least frequently identified, respectively. A novel translocation in DERL / COX6C was detected. Many somatic alterations in non-coding gene regions with high penetrance were observed. Thus, follicular thyroid tumor somatic alterations exhibit complex patterns. Most tumors contained distinct somatic alterations, suggesting previously unreported heterogeneity. Highlights: The spectrum of somatic alterations in follicular thyroid tumors is largely unknown. Cancer genes in 82 thyroid tissue samples were tested by next generation sequencing. Single nucleotide variants were most common; large structural changes were rare. New somatic alterations were found in genes as well as non-coding regions. Distinct tumor somatic alterations suggested previously unreported heterogeneity
 
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Alternative Names
Tomasz Stokowy onderzoeker

Languages
English (10)