Clinical, genetic aspects and molecular pathogenesis of osteopetrosis.

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 the disease: increased bone density caused by imbalances in bone formation and remodeling, leading to structural changes in bone tissue, predisposition to fractures, skeletal deformities.

Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review.

Osteogenesis imperfecta (OI) is a large group of genetically heterogeneous diseases resulting from decreased bone density and an abnormal microarchitecture, which are clinically manifested by abnormal bone fractures. A distinctive clinical feature of this group of diseases is the presence of spontaneous fractures and skeletal deformities. However, the clinical manifestations of different types of OI are characterized by marked polymorphism with variable severity of skeletal and extra-skeletal features.

Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia).

Osteogenesis imperfecta (OI) is an inherited disease of bone characterized by increased bone fragility. Here, we report the results of the molecular architecture of osteogenesis imperfecta research in patients from Bashkortostan Republic, Russia. In total, 16 mutations in , 11 mutations in , and 1 mutation in and genes were found in isolated states; 11 of them were not previously reported in literature.

[Association of cytokine gene polymorphisms in peptic ulcer development in the Bashkortostan Republic].

Peptic ulcer disease (PUD) is a chronic disease based on recurrent gastric or duodenal ulcers. Association analysis of common polymorphisms of the cytokines genes IL1B (rs1143634), IL1RN (rs71941886), IL8 (rs4073), IL10 (rs1800872), and TNFA (rs1800629) was conducted in 254 patients with gastric ulcer or duodenal ulcer and in 277 unrelated healthy individuals from the Bashkortostan Republic. Associations of the rs1143634C allele and the C/C genotype of the IL1B gene with PUD in ethnic Bashkirs have been revealed.

Associations between vitamin D-binding protein (DBP) gene polymorphism (TAAA)n and development of osteoporosis in the Volga-Ural region of Russia.

Study of DBP gene (TAAA) n polymorphism in women of postmenopausal age revealed a significantly lower incidence of DBP(*) 10 allele and a higher incidence of DBP(*) 11 allele in Russian women with bone fractures in comparison with the relevant controls (χ(2) = 4.47, p = 0.034 and χ(2) = 4.