19 Result(s)

Article

Incomplete phenotypic presentation in a girl with rare Rabson–Mendenhall syndrome

Joanna Chrzanowska, Jagoda Skarul, Agnieszka Zubkiewicz-Kucharska… in Acta Diabetologica (2023)

Article

RT-qPCR-based tests for SARS-CoV-2 detection in pooled saliva samples for massive population screening to monitor epidemics

Swab, RT-qPCR tests remain the gold standard of diagnostics of SARS-CoV-2 infections. These tests are costly and have limited throughput. We developed a 3-gene, seminested RT-qPCR test with SYBR green-based de...

Michał Różański, Aurelia Walczak-Drzewiecka, Jolanta Witaszewska… in Scientific Reports (2022)

Article

Elevated level of lysophosphatidic acid among patients with HNF1B mutations and its role in RCAD syndrome: a multiomic study

Patients with hepatocyte nuclear factor-1 beta (HNF1B) mutations present a variable phenotype with two main symptoms: maturity onset diabetes of the young (MODY) and polycystic kidney disease (PKD).

Beata Małachowska, Justyna Janikiewicz, Karolina Pietrowska, Krystyna Wyka… in Metabolomics (2022)

Article

Multiomic analysis on human cell model of wolfram syndrome reveals changes in mitochondrial morphology and function

Wolfram syndrome (WFS) is a rare autosomal recessive syndrome in which diabetes mellitus and neurodegenerative disorders occur as a result of Wolframin deficiency and increased ER stress. In addition, WFS1 def...

Agnieszka Zmyslowska, Miljan Kuljanin… in Cell Communication and Signaling (2021)

Article

Screening for extremely rare pathogenic variants of monogenic diabetes using targeted panel sequencing

Maturity‐onset diabetes of the young (MODY) is one of the rare monogenic forms of diabetes. To date, about 12 genes in the scientific literature are closely related to the occurrence of the disease phenotype. ...

Tomasz Płoszaj, Karolina Antosik, Paulina Jakiel, Agnieszka Zmysłowska… in Endocrine (2021)

Article

Leukemia Inhibitory Factor: A Potential Biomarker and Therapeutic Target in Pancreatic Cancer

Pancreatic ductal adenocarcinoma (PDAC) is a highly aggressive, treatment-resistant cancer. Five-year survival rate is about 9%, one of the lowest among all solid tumors. Such a poor outcome is partly due to t...

Ewa Wrona, Piotr Potemski… in Archivum Immunologiae et Therapiae Experim… (2021)

Article

Identification of placental genes linked to selective intrauterine growth restriction (IUGR) in dichorionic twin pregnancies: gene expression profiling study

A linkage of dichorionic (DC) twin pregnancies with selective intrauterine growth restriction (IUGR) to alterations in placental gene expression is unclear. The aim of the study was to identify placental genes...

Lidia Biesiada, Agata Sakowicz, Mariusz Grzesiak, Maciej Borowiec… in Human Genetics (2019)

Article

Retinal thickness as a marker of disease progression in longitudinal observation of patients with Wolfram syndrome

Wolfram syndrome (WFS) is a recessively inherited monogenic form of diabetes coexisting with optic atrophy and neurodegenerative disorders with no currently recognized markers of disease progression. The aim o...

Agnieszka Zmyslowska, Wojciech Fendler, Arleta Waszczykowska… in Acta Diabetologica (2017)

Article

Abnormal serum microRNA profiles in tuberous sclerosis are normalized during treatment with everolimus: possible clinical implications

Tuberous sclerosis (TSC) is a monogenic disease resulting from defects of the TSC1 or TSC2 genes, which encode the proteins forming hamartin-tuberin tumor suppressor complex, the mammalian target of rapamycin com...

Joanna Trelinska, Wojciech Fendler, Iwona Dachowska… in Orphanet Journal of Rare Diseases (2016)

Article

Differential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors

We aimed to identify microRNAs (miRNAs) under transcriptional control of the HNF1β transcription factor, and investigate whether its effect manifests in serum.

Wojciech Fendler, Joanna Madzio, Kamil Kozinski, Kashyap Patel… in Diabetologia (2016)

Article

Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology

Karolina Antosik, Piotr Gnys, Elisa De Franco, Maciej Borowiec… in Acta Diabetologica (2016)

Article

Less but better: cardioprotective lipid profile of patients with GCK-MODY despite lower HDL cholesterol level

Patients with diabetes caused by single-gene mutations generally exhibit an altered course of diabetes. Those with mutations of the glucokinase gene (GCK-MODY) show good metabolic control and low risk of cardiova...

Wojciech Fendler, Manfredi Rizzo, Maciej Borowiec, Beata Malachowska… in Acta Diabetologica (2014)

Article

Phenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene

Monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY) is usually characterized by a mild clinical phenotype. The clinical course of diabetes may be, however, highly variable. The authors pr...

Maciej Borowiec, Malgorzata Mysliwiec, Wojciech Fendler… in Acta Diabetologica (2011)

Article

FOXP3, IL-10, and TGF-β Genes Expression in Children with IgE-Dependent Food Allergy

Regulatory T cells (Tregs) have an essential role in tolerance and immune regulation. However, few and controversial data have been published to date on the role and number of these cells in food allergic chil...

Aneta Krogulska, Maciej Borowiec, Ewa Polakowska… in Journal of Clinical Immunology (2011)