A5032348436- Pancreatitis Pathology and Treatment
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- RNA Research and Splicing
- Sexual Differentiation and Disorders
- RNA and protein synthesis mechanisms
- Liver Disease Diagnosis and Treatment
- Pancreatic function and diabetes
- Pancreatic and Hepatic Oncology Research
- CAR-T cell therapy research
- Helicobacter pylori-related gastroenterology studies
- Lymphoma Diagnosis and Treatment
- Hormonal and reproductive studies
- Genomics and Chromatin Dynamics
- Animal Genetics and Reproduction
- RNA regulation and disease
- Food Industry and Aquatic Biology
- CRISPR and Genetic Engineering
- Diabetes and associated disorders
- Pediatric Hepatobiliary Diseases and Treatments
- Endoplasmic Reticulum Stress and Disease
- Protein Degradation and Inhibitors
- Animal Nutrition and Health
- Gastrointestinal disorders and treatments
- RNA modifications and cancer
- Galectins and Cancer Biology
Institute of Molecular Biology
2021-2023
Boston University
2018-2023
Medical University of Warsaw
2022
Engelhardt Institute of Molecular Biology
2015-2017
Endocrinology Research Center
2015
Research Institute of General Pathology and Pathophysiology, the Russian Academy of Medical Sciences
2015
Russian Academy of Sciences
2011-2013
Abstract Following CART-19 immunotherapy for B-cell acute lymphoblastic leukaemia (B-ALL), many patients relapse due to loss of the cognate CD19 epitope. Since epitope can be caused by aberrant exon 2 processing, we herein investigate regulatory code that controls splicing. We combine high-throughput mutagenesis with mathematical modelling quantitatively disentangle effects all mutations in region comprising exons 1-3. Thereupon, identify ~200 single point alter splicing and thus could...
Reactive aldehydes are produced by normal cellular metabolism or after alcohol consumption, and they accumulate in human tissues if aldehyde clearance mechanisms impaired. Their toxicity has been attributed to the damage cause genomic DNA subsequent inhibition of transcription replication. However, whether interference with other processes contributes not investigated. We demonstrate that formaldehyde induces RNA-protein crosslinks (RPCs) stall ribosome inhibit translation cells. RPCs...
Deficiency of 17α-hydroxylase/17,20-lyase is a rare cause 46,XY disordered sex development.We characterize in vitro and vivo effects two novel CYP17A1 gene mutations identified patient with mild phenotype deficiency.A presented ambiguous genitalia. deficiency was suspected at 2 months on the basis steroid analysis performed by liquid chromatography-tandem mass spectrometry (LC-MS/MS). Mutational PCR Sanger sequencing. To effect mutation 17α-hydroxylase 17,20-lyase activities vitro, HEK293...
Alcoholic pancreatitis is a multifactorial, progressive, inflammatory disorder of the pancreas. Alcohol initiates and promotes its progression in context genetic susceptibility and/or other environmental risk factors such as smoking. Genetic mutations can cause digestive enzyme misfolding, which induces endoplasmic reticulum (ER) stress elicits pancreatitis. Here, we tested hypothesis that alcohol synergizes with misfolding promoting ER thereby accelerates chronic progression. To this end,...
<b><i>Background:</i></b> Although the importance of steroidogenic factor-1 (SF1, NR5A1) for adrenal development is supported by numerous in vitro and vivo studies, cases SF1 deficiency associated with failure are exceptionally rare. The first human <i>NR5A1</i> mutation was a heterozygous de novo p.G35E variant identified patient disorder sex (DSD) 46,XY primary insufficiency. Here we describe another association “classic” phenotype novel affecting G35...
Unwanted autoactivation of the digestive protease trypsinogen can result in pancreatitis. The activation peptide contains a polyaspartate motif that suppresses autoactivation. This study demonstrates evolutionary expansion these aspartate residues mouse cationic further inhibits and enhances protection against
Abstract During CART-19 immunotherapy for B-cell acute lymphoblastic leukaemia (B-ALL), many patients relapse due to loss of the cognate CD19 epitope. Since epitope can be caused by aberrant exon 2 processing, we herein investigate regulatory code that controls splicing. We combine high-throughput mutagenesis with mathematical modelling quantitatively disentangle effects all mutations in region comprising exons 1-3. Thereupon, identify ~200 single point alter splicing and thus could...
An urgent task for dairy cattle breeding is to study the genetic structure of population by polymorphic systems, which serves as one elements monitoring. Based on analysis new methods assessing genotypes animals, it advisable not only increase total amount protein, but also individual qualitative indicators proteinmilk content. The purpose research occurrence frequency Bola-DRB3 gene alleles in sire bulls Holstein breed. analysis, was noted that out ten gene, a relationship established with...