A5045925268- Immunodeficiency and Autoimmune Disorders
- Sociopolitical Dynamics in Russia
- Hereditary Neurological Disorders
- Blood groups and transfusion
- Nonprofit Sector and Volunteering
- Genetic Neurodegenerative Diseases
- Platelet Disorders and Treatments
- Blood disorders and treatments
- RNA modifications and cancer
- Tourism, Volunteerism, and Development
- Impulse Buying and Technology Impacts
- Inflammasome and immune disorders
- Cellular Mechanics and Interactions
- Blood properties and coagulation
- Cancer-related gene regulation
- Legal and Policy Issues
- Social and Behavioral Studies
- Immune Cell Function and Interaction
- Mitochondrial Function and Pathology
- Epigenetics and DNA Methylation
- Cell Adhesion Molecules Research
- Neurological diseases and metabolism
- Socioeconomic and Demographic Analysis
- Religion, Society, and Development
- Dermatological and Skeletal Disorders
Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology
2015-2024
Ministry of Health of the Russian Federation
2020-2023
Federal Medical-Biological Agency
2017
National Research University Higher School of Economics
2012-2015
Institute of Bioorganic Chemistry
2015
Research Centre for Medical Genetics
2000-2004
John Wiley & Sons (Germany)
2000
Charcot-Marie-Tooth disease (CMT) and related inherited peripheral neuropathies, including Dejerine-Sottas syndrome, congenital hypomyelination, hereditary neuropathy with liability to pressure palsies (HNPP), are caused by mutations in three myelin genes: PMP22, MPZ Cx32 (GJB1). The most common the 1.5 Mb CMT1A tandem duplication on chromosome 17p11.2-p12 CMT1 patients reciprocal deletion HNPP patients. We performed a mutation screening 174 unrelated CMT families of Russian origin. included...
Background Diamond Blackfan anemia (DBA) is a genetically and clinically heterogeneous ribosomopathy inherited bone marrow failure syndrome characterized by anemia, reticulocytopenia, decreased erythroid precursors in the with an increased risk of malignancy and, approximately 50%, physical abnormalities. Methods We retrospectively analyzed clinical data from 77 patients DBA born Russian Federation 1993 to 2014. In 74 families there was one affected individual; only three instances multiplex...
BACKGROUND. Variants in recombination-activating genes (RAG) are common genetic causes of autosomal recessive forms combined immunodeficiencies (CID) ranging from severe immunodeficiency (SCID), Omenn syndrome (OS), leaky SCID and CID with granulomas and/or autoimmunity (CID-G/AI) even milder presentation antibody deficiency. OBJECTIVE. We aim to estimate the incidence, clinical presentation, variability treatment outcome geographic distribution patients RAG defects populations inhabiting...
Acquired aplastic anemia (AA) is still the diagnosis of exclusion. The purpose research was to identify clinical and laboratory signs that do not correspond acquired AA allowing diagnose other diseases accompanied by cytopenia. Materials methods used: Authors represent results diagnostic search in pediatric patients (0 18 y/o) with a suspected who underwent remote laboratories National Scientific Practical Center for Pediatric Hematology, Oncology Immunology named after Dmitry Rogachev...
Э лектронный журнал «Экономическая социология» издаётся с 2000 г.Учредителями являются Национальный исследовательский университет «Высшая школа экономики» (с 2007 г.) и Вадим Валерьевич Радаев (главный редактор).Цель журнала -утверждать международные стандарты экономико-социологических исследований в России, представлять современные работы российских зарубежных авторов области экономической социологии, информировать профессиональное сообщество о новых актуальных публикациях исследовательских...
RASopathies are disorders caused by germline mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. These syndromes share features developmental delay, facial dysmorphisms, and defects various organs, as well cancer predisposition. Somatic same pathway one primary causes cancer. It is thought cancer-causing would be embryonic lethal, a more severe phenotype was shown Drosophila zebrafish embryos with MAP2K1 than those RASopathy mutations. Here...
The rise of private donations, both in Russia and abroad, has become a leading factor the formation nonprofits’ resource base. A considerable number studies have looked into socio-demographic factors positively associated with charity, such as age, education income level. This paper explicitly targets association between parental volunteering participation children charitable donations they grow up. study draws on results an All-Russia Representative Survey (N = 1,200). survey provide solid...
Charcot-Marie-Tooth disease (CMT) and related inherited peripheral neuropathies, including Dejerine-Sottas syndrome, congenital hypomyelination, hereditary neuropathy with liability to pressure palsies (HNPP), are caused by mutations in three myelin genes: PMP22, MPZ Cx32 (GJB1). The most common the 1.5 Mb CMT1A tandem duplication on chromosome 17p11.2-p12 CMT1 patients reciprocal deletion HNPP patients. We performed a mutation screening 174 unrelated CMT families of Russian origin. included...
To date, about 500 genetic defects are known to cause clinical manifestations of immunodeficiency. Genetic diagnosis is necessary guide the management patients with inborn errors immunity (IEI) and plays an important role in counselling families. find IEI, 2395 probands were tested, 1507 (65.7%) them we identified 164 forms IEI 143 single genes abnormalities 8 chromosomes. The majority IEIs (89.1%) monogenic, 98.6% being germline origin. Only 10.6% due large chromosomal breaks. most common...
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Wiskott–Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by microplatelet thrombocytopenia, eczema, frequent infections and an increased risk of autoimmune disorders malignant neoplasms. Mutation detection in WAS gene the gold standard for diagnosis this disorder. This encodes WASP protein, which works as regulator cell cytoskeleton involved transmission many intracellular signals. Nowadays there no rapid reliable method that allows to confirm short period...
To the Editor Diamond-Blackfan anemia (DBA) is a rare clinically and genetically heterogeneous congenital bone marrow failure syndrome. The cohort of 187 patients from 179 families diagnosed with DBA was recruited during period 1993 to 2019 in Russia. Here we report update on genetic landscape Russia since 2015, when our previous paper published describing 77 probands,1 so increment 2015 manuscript 110 individuals 102 families. Of (2015-2019 period), blood samples were available for 98 92...