Suchergebnisse - R. I. Khusainova

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  1. 1

    Clinical, genetic aspects and molecular pathogenesis of osteopetrosis von D. D. Nadyrshina, R. I. Khusainova

    Veröffentlicht 2023-07-01

    Osteopetrosis (“marble bone”, ICD-10-78.2) includes a group of hereditary bone disorders distinguished by clinical variability and genetic heterogeneity. The name “osteopetrosis” comes from the Greek language: ‘osteo’ means ‘bone’ and ‘petrosis’ means ‘stone’, which characterizes the main feature of...

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  2. 2

    Modern classification and molecular-genetic aspects of osteogenesis imperfecta von A. R. Zaripova, R. I. Khusainova

    Veröffentlicht 2020-04-01

    Osteogenesis imperfecta (imperfect osteogenesis in the Russian literature) is the most common hereditary form of bone fragility, it is a genetically and clinically heterogeneous disease with a wide range of clinical severity, often leading to disability from early childhood. It is based on genetic d...

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  3. 3

    Epigenetic regulation of bone remodeling and its role in the pathogenesis of primary osteoporosis von B. I. Yalaev, R. I. Khusainova

    Veröffentlicht 2023-07-01

    Discovery of molecular mechanisms of primary osteoporosis development is fundamental to understand the pathogenesis of musculoskeletal diseases in general and for identifying key links in the genetic and epigenetic regulation of bone remodelling genes. The number of identified molecular genetic mark...

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  4. 4

    Diagnosis and treatment of ovarian cancer in the light of modern molecular genetic achievements von E. M. Kagirova, R. I. Khusainova, I. R. Minniakhmetov

    Veröffentlicht 2023-11-01

    The purpose of the study was to systematize and summarize the literature data on the study of clinical and genetic aspects, molecular pathogenesis, as well as new trends in the diagnosis and treatment of ovarian cancer.Material and Methods. A literature search was conducted using Web of science, sco...

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  5. 5

    Polymorphic Variants of the <i>ADAMTS5</i> Gene as New Markers of Joint Hypermobility von K. E. Akhiiarova, R. I. Khusainova, B. I. Yalaev, A. V. Tyurin

    Veröffentlicht 2023-02-01

    Joint hypermobility (JH) is a common phenotype that can be both an independent clinical syndrome and a manifestation of connective tissue diseases. The pathogenesis of JH is not well understood. JH may be a predisposing factor in the development of musculoskeletal system pathology, so it is necessar...

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  6. 6

    The role of DNA methylation in the disorders of bone metabolism von B. I. Yalaev, A. V. Tyurin, R. Y. Mirgalieva, R. I. Khusainova

    Veröffentlicht 2019-02-01

    Osteoporosis is one of multifactorial diseases, it develops from interactions between the genetic component and the environment. However, the universal epigenetic markers of osteoporosis are not yet defined. Finding the risk factors will predict the risk of osteoporosis at the preclinical stage, hel...

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  7. 7

    The role of VNTR aggrecan gene polymorphism in the development of osteoarthritis in women von D. A. Shapovalova, A. V. Tyurin, S. S. Litvinov, E. K. Khusnutdinova, R. I. Khusainova

    Veröffentlicht 2018-11-01

    Osteoarthritis (OA) is a common multifactorial joint disease. Undifferentiated connective tissue dysplasia (uCTD) is a genetically determined lesion of the connective tissue structures, including joints, and it can be one of the factors predisposing to development of OA. Solving the problem of comor...

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  8. 8

    New molecular aspects of the pathogenesis of osteoporosis – perspectives for early diagnosis and treatment von A. V. Tyurin, K. E. Akhiyarova, B. I. Yalaev, T. S. Zagidullin, R. I. Khusainova

    Veröffentlicht 2024-04-01

    Osteoporosis (OP) is a common disease leading to low-trauma fractures and is a serious medical and social problem. Often a fracture is the first clinical manifestation of OP that has been asymptomatic for a long time, necessitating the development of methods for early detection and risk assessment o...

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  9. 9

    Analysis of phenotypic manifestations of connective tissue dysplasia in adult patients with osteogenesis imperfecta and development of a diagnostic algorithm von D. I. Valeeva, R. I. Khusainova, L. N. Khusainova, M. M. Khafizov, A. V. Tyurin

    Veröffentlicht 2025-05-01

    Connective tissue dysplasia (CTD) is a genetically determined disorder of the development of connective tissue in the embryonic and postnatal periods, which is characterized by defects in the structure of the fibers and basic substance of the connective tissue, which can cause a variety of disorders...

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  10. 10

    Detecting Associations Between Body Mass Index and Bone Mineral Density in Patients with Fractures of Different Localizations von А. V. Tyurin, B. I. Yalaev, K. E. Akhiiarova, R. Y. Mirgalieva, R. I. Khusainova

    Veröffentlicht 2023-04-01

    Introduction. Osteoporosis is a multifactorial metabolic disease that increases the risk of bone fracture because of reduced bone mineral density. The International Osteoporosis Foundation estimates that about 200 million people are affected by osteoporosis. Therefore, it is relevant to develop clin...

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  11. 11

    Association of vascular endothelial growth factor B (VEGFВ) gene polymorphisms with intracranial aneurysms von R. I. Sultanova, R. I. Khusainova, E. R. Lebedeva, M. A. Yankina, D. V. Gilev, E. K. Khusnutdinova

    Veröffentlicht 2019-01-01

    Intracranial aneurysm (IA) is a complex disease resulting in subarachnoid hemorrhage (SAH) due to a rupture. The average worldwide prevalence of this disease is about 2–5 %, with 50 % of them ending in death or neurological disorders of varying severity, with a high probability of recurrence of hemo...

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  12. 12

    Search for associations of polymorphic variants of the <i>MTHFR, MET, CHEK2</i> genes, identified through next-generation sequencing, with cervical cancer von K. V. Lenkova, R. M. Minyazeva, V. L. Akhmetova, I. R. Gilyazova, R. I. Khusainova, I. R. Minniakhmetov

    Veröffentlicht 2025-04-01

    Introduction. Worldwide, cervical cancer is the 4th most common cancer in women, and morbidity continues to grow. Supposedly, development of human papilloma virus-associated cervical cancer depends on genetic and epigenetic factors, but molecular pathogenesis of this pathology has not yet been estab...

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