Table of contents
Articles
MUTATIONS IN ONCOGENES GNAQ AND GNA11 IN UVEAL MELANOMA PATIENTS
Introduction.Uveal melanoma (UM) is one of the most frequent intraocular tumors. Mutations in new oncogenes GNAQ and GNA11 are found in more than 50% of UM. GNAQ gene and its homologue GNA11 are coding the alpha subunit of heterotrimeric G-protein with GTPase …
FREQUENCY OF THE SLCO1B1*5 GENE IN RUSSIAN PATIENTS WITH HYPERLIPIDEMIA, RECEIVING STATINS VS. THOSE NOT RECEIVING STATINS
Introduction.SLCO1B1 encodes the organic anion–transporting polypeptide which has been shown to regulate the hepatic uptake of statins. SLCO1B1*5 genetic variant is associated with statin-induced myopathy. The aim of the study. Aim of the study is to research …
EFFECT OF VAL66MET BDNF ALLELIC POLYMORPHISM ON DYNAMICS OF THE BDNF SERUM LEVEL AND PERFORMANCEOF THE RAVEN’S TEST IN PATIENTS WITH STROKE
Introduction.Study of the influence of molecular and genetic predisposition to forecast neurorehabilitation patients with stroke is of great scientific and practical importance. The aim of the study.Determining the impact of allelic polymorphism Val66Met BDNF …
MICRORNA AS A BIOMARKER FOR DETECTION BLADDER CANCER
Introduction.Transitional cell carcinoma of the bladder is the second most common malignancy of the genitourinary tract. Cystoscopy and urine cytology are the traditional most used techniques for diagnosis and surveillance of superficial bladder cancer. Urinec…
MOLECULAR CYTOGENETICS AND GENOMICS OF AUTISM
Genomic and molecular genetic studies of autism can identify new biological markers to determine the etiology and the molecular and cellular mechanisms of the pathogenesis of this disease. In addition to the fundamental importance of this research the laborato…
REPRODUCIBILITY OF RESULTS IN THE GENETICS OF PREDISPOSITIONS AND THEIR PREDICTIVE VALUES
Poor reproducibility and low predictive values of the results in the genetics of predispositions become a systemic problem. Results of the statistical quality control of genetic tests in the study should be supported with not only integral indices such as odds…
EVOLUTIONARY MEDICAL GENOMICS
«Nothing in biomedicine makes sense except in the light of evolution». From this point of view, genetics of predispositions hasto answer two basic questions: 1. Is the natural genetic polymorphism identified with modern genomics proved to be the result of neut…
A PYROSEQUENCING-BASED METHOD FOR THE DETECTION OF UGT1A1 (ТА)6/(ТА)7 POLYMORPHISM
Introduction.The rs8175347 ((TA)5/6/7/8) in the UGT1A1 gene polymorphism is associated with the expression of UDP glucuronosyltransferase 1A1 enzyme. The low enzyme activity in patients with (TA)7 and (TA)8 alleles is associated with the risk of Gilbert syndro…
IDENTIFICATION OF STRUCTURAL CHROMOSOMAL REARRANGEMENTS IN CHILDREN WITH IDIOPATHIC MENTAL RETARDATION USING HIGH RESOLUTION CHROMOSOME ANALYSIS
Introduction. Diagnosis of genomic and chromosomal anomalies is based on the application of cytogenetic and molecular technologies. The aim of the study. The objective of the work was the delivery and the use of the algorythm for diagnosis of structural genomi…
ADVANTAGES OF A NEW PARADIGM OF EXPERIMENTAL ONCOLOGY: INDIVIDUAL PROGNOSIS OF IMMUNOTHERAPY OUTCOME BASED ON SURROGATE MARKER ANALYSIS
Introduction. A novel 3S-paradigm of alternative experimental anti-cancer drug testing procedure was developed in parallel with a modern conception of personalized and predictive medicine to reveal both positive and negative effect in each experiment and topre…
INTEGRATIVE ALGORHYTHMS AND ETIOPATOGENETIC CLUSTERS AS STUDY METHODS TO BRIDGE THE CHASM BETWEEN THE BASIC SCIENCE AND PRACTICAL MEDICINE
Education in medicine has been facing a challenging problem of relations between basic biomedical sciences and clinical medicine. In postgenomic era emerging didactic issue is related both to contents and quantity of knowledge to be studied. Qualitative and qu…
HOW TO TEACH A PHYSICIAN-PATHOLOGIST? PATHOPHYSIOLOGY TRANSFORMS INTO SYSTEMS PATHOBIOLOGY SERVING AN INTRODUCTION INTO TRANSLATIONAL MEDICINE
Pathophysiology as a science and curriculum discipline stands in front of the biggest challenge in its history. It extended farbeyond the limits of its historical name and embedded aspects of Pathochemistry, Immunopathology, Pathobiophysics and Pathoinformatic…