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Molecular Medicine Peer-reviewed scientific journal

Found: 37

ОБЗОР2017

THE ROLE OF MOLECULAR AND GENETIC FACTORS IN UVEAL MELANOMA PATHOGENESIS

Uveal melanoma (UM) is a rare, aggressive intraocular malignant tumor, leading to metastatic disease in more than 50% of patients. Cytogenetic and molecular studies have identified some genetic prognostic factors considered to be reliable to forecast the survi…

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ОРИГИНАЛЬНОЕ ИССЛЕДОВАНИЕ2017

THE PROFILE OF MICRORNA EXPRESSION IN LIVER IN CHRONIC HEPATITIS C PATIENTS AND THEIR ASSOCIATION WITH CLINICAL PARAMETERS

Introduction. Hepatitis C virus (HCV) is a major risk factor for chronic hepatitis, liver cirrhosis and hepatocellular carcinoma. Molecular mechanisms of fibrogenesis are associated with the activation or inhibition of signaling pathways, which are controlling…

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ОРИГИНАЛЬНОЕ ИССЛЕДОВАНИЕ2017

TWO NOVEL MUTATIONS IN THE SLC37A4 GENE IN A CHILD WITH GLYCOGEN STORAGE DISEASE TYPE IB

Introduction. Glycogen storage disease (GSD) type Ib is caused by mutations in the SLC37A4 gene. The aim of the study. To verify the diagnosis by molecular genetic studies. Patient. Child at the age of 5 years and 8 months with severe hepatomegaly, nephromegal…

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ОРИГИНАЛЬНОЕ ИССЛЕДОВАНИЕ2015

THE STUDY OF THE EFFECT OF INTERACTION BETWEEN GENES, ASSOCIATED WITH PHENOMENON OF DRUG RESISTANCE IN MYCOBACTERIUM TUBERCULOSIS COMPLEX

Introduction. The phenomenon of drug resistance of Mycobacterium tuberculosis complex is extremely complicated. The determination of the genetic changes is not always able to explain reasons of this effect clearly. The aim of the study. Molecular genetic analy…

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ОРИГИНАЛЬНОЕ ИССЛЕДОВАНИЕ2015

MOLECULAR BIOLOGICAL CHARACTERISTICS OF MALIGNANT TUMORS

The formation of properties promoting malignant transformation begins before the appearance of tumor cells at the level of inflammatory and precancerous processes. The basis for these properties is genomic instability of tumor cells. Genetic instability manife…

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ОРИГИНАЛЬНОЕ ИССЛЕДОВАНИЕ2015

CLINICAL AND MOLECULAR ASPECTS OF GASTRIC CANCEROGENESIS

Gastric cancer (GC) arises through a multistep process characterized by the progressive accumulation of molecular alterations of tumor cells that is involving genetic and epigenetic mechanisms. GC is a very complex and heterogeneous disease, and although much …

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Research article2014

SEVERAL GENETIC FEATURES OF HUMAN METASTATIC CUTANEOUS MELANOMA

Introduction. The prevalence of human cutaneous melanoma (CM) in the world is constantly rising. Diagnostics and treatment of CM at the early stages allows to increase the 5-year patient survival up to 90%. This problem can be solved with personalized therapy …

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Research article2014

THE PROBLEMS OF RETT SYNDROME DIAGNOSIS IN GIRLS WITHOUT A MUTATION IN THE MEСP2 GENE: APPLICATION OF MOLECULAR KARYOTYPING

Introduction. Rett syndrome (RTT) is the most common genetic syndrome underlying mental retardation and autism in girls. Etiology of this disorder is related to mutation in the MECP2 gene. However, there are many cases of this disease without the MECP2 mutatio…

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Research article2014

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…

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Research article2014

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…

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Research article2014

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…

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Research article2012

MOLECULAR AND CELLULAR TARGETS AS THE BASISOF PRECLINICAL DIAGNOSIS OF TYPE 1 DIABETES: PROBLEMS AND PROSPECTS

In autoimmune diabetes mellitus (IDDM), clinical manifestation is typically preceded by several years of latent autoimmune insulitis. The autoimmune process arises only in genetically predisposed people,and is usually provoked by an infectious pathogen. Dagnos…

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Research article2012

PHARMACOPREVENTIVE THERAPY OF TYPE 1 DIABETES (T1D)FROM THE POSITIONS OF TRANSLATIONAL MEDICINE: PROBLEMS AND PROSPECTS

Translational medicine is one of the critical components to overcome the impediments within the objectives of Predictive Preventive and Personalized Medicine. Identification of molecular mechanisms underlying subclinical stages of T1D pathogenesis is a key to …

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