[Structural and functional features of the main arteries of the brain and tumor necrosis factor-alpha in people with chronic non-infectious diseases].

Objective: To investigate the structural and functional characteristics of the carotid and vertebral arteries and their relationship with tumor necrosis factor-alpha (TNF-α) levels in patients with chronic non-infectious diseases (CNIDs), considering sex differences.

Unlabelled: Material and Methods. A retrospective analysis of clinical and laboratory data of 760 patients with chronic non-communicable diseases (average age 52.

Association of leptin receptor gene Gln223Arg polymorphism with insulin resistance and hyperglycemia in patients with metabolic syndrome.

Introduction: Worldwide, there has been an increase in the incidence of metabolic syndrome. The search for genetic markers of this syndrome is ongoing. The leptin receptor has recently received attention.

Alteration of actin cytoskeletal organisation in fetal akinesia deformation sequence.

Fetal akinesia deformation sequence (FADS) represents the severest form of congenital myasthenic syndrome (CMS), a diverse group of inherited disorders characterised by impaired neuromuscular transmission. Most CMS originate from defects in the muscle nicotinic acetylcholine receptor, but the underlying molecular pathogenesis is only poorly understood. Here we show that RNAi-mediated silencing of FADS-related proteins rapsyn and NUP88 in foetal fibroblasts alters organisation of the actin cytoskeleton.

[Prevalence, age and gender features of chronic kidney disease in patients with diabetes mellitus].

Aim: To study the prevalence, age and gender characteristics of chronic kidney disease (CKD) in patients with diabetes mellitus (DM).

Materials And Methods: In a case-control study, clinical and laboratory data were analyzed in 683 patients with DM (4.6% of patients with type 1 DM and 95.

[New data on the pathophysiology of ischemic stroke: epigenetic mechanisms in focus].

Epigenetics is a branch of molecular biology that studies modifications able to change gene expression without changing the DNA sequence. Epigenetic modulations include DNA methylation, histone modifications, and noncoding RNAs. These heritable and modifiable gene changes can be caused by lifestyle and dietary factors.

[Urolithiasis in HIV-positive patients: prevalence and risk factors].

Today, the total number of people living with the human immunodeficiency virus (HIV) is 43.8 million. From the moment of infection to the terminal stage of the disease, the risk of stone formation progressively increases.

Differentiation of Bos grunniens and Bos taurus based on STR locus polymorphism.

Differentiation of closely related biological species using molecular genetic analysis is important for breeding farm animals, creating hybrid lines, maintaining the genetic purity of breeds, lines and layering. Bos grunniens and Bos taurus differentiation based on STR locus polymorphism will help maintain the genetic isolation of these species and identify hybrid individuals. The aim of this study is to assess the differentiating potential of 15 microsatellite loci to distinguish between domestic yak (B.

The Spectrum of Germline Nucleotide Variants in Gastric Cancer Patients in the Kyrgyz Republic.

Gastric cancer is a major challenge in modern oncology due to its high detection rate and prevalence. While sporadic cases make up the majority of gastric cancer, hereditary gastric cancer is caused by germline mutations in several genes linked to different syndromes. Thus, identifying hereditary forms of gastric cancer is considered crucial globally.

A genogeographic study of the Kyrgyz mountain merino via microsatellite markers.

The aim was to ascertain the genetic and geographical structure of the Kyrgyz mountain merino (KMM). We analyzed DNA samples of 109 Kyrgyz mountain merino specimens, bred in three state breeding factories (STB), including "Orgochor" in the Issykul Province, "Katta-Taldyk" in the Osh Province and STb named after Luschikhin in the Talas Province. We identified 126 alleles in 12 microsatellite markers (McM042, INRA006, McM527, ETH152, CSRD247, OarFCB20, INRA172, INRA063, MAF065, MAF214, INRA005, INRA023).

[Chronic cerebral ischemia in therapeutic hospital patients].

Objective: To study the features of clinical and functional manifestations of the syndrome of chronic cerebral ischemia (CCI) in therapeutic patients.

Material And Methods: Patients (=577) in therapeutic departments were selected by random sampling. Of these, 277 patients had verified CCI.

The Genetic Echo of the Tarim Mummies in Modern Central Asians.

The diversity of Central Asians has been shaped by multiple migrations and cultural diffusion. Although ancient DNA studies have revealed the demographic changes of the Central Asian since the Bronze Age, the contribution of the ancient populations to the modern Central Asian remains opaque. Herein, we performed high-coverage sequencing of 131 whole genomes of Indo-European-speaking Tajik and Turkic-speaking Kyrgyz populations to explore their genomic diversity and admixture history.

[Functional state of kidneys and cardiovascular risk in patients with urolithiasis in an outpatient setting].

Aim: To analyze the functional state of the kidneys and vascular stiffness in patients with urinary stone disease in an outpatient setting.

Material And Methods: A total of 110 patients with urinary stone disease aged 17-72 years were included in the study. The stone size was 2,67 (1,90-3,49) mm.

[Modern biomarkers of renal dysfunction in the elderly and senile age: clinical and prognostic significance.].

In the presented work, the role of modern biomarkers of kidney dysfunction in elderly (n=97) and senile (n=18) patients was investigated. A clinical and laboratory examination was performed with an assessment of the glomerular filtration rate (GFR) using the CKD-EPI formula. Serum levels of cystatin C and metabolism of beta-2-microglobulin (β2-MG) were assessed.

Distinct APOL1 functions in trypanosomes and kidney podocytes.

The human serum protein apolipoprotein L1 (APOL1) kills Trypanosoma brucei but not the sleeping sickness agent Trypanosoma rhodesiense. APOL1 C-terminal variants can kill T. rhodesiense but they also induce kidney disease.

The Retinoblastoma Tumor Suppressor Is Required for the NUP98-HOXA9-Induced Aberrant Nuclear Envelope Phenotype.

Chromosomal translocations involving the nucleoporin gene are recurrently identified in leukemia; yet, the cellular defects accompanying NUP98 fusion proteins are poorly characterized. NUP98 fusions cause changes in nuclear and nuclear envelope (NE) organization, in particular, in the nuclear lamina and the lamina associated polypeptide 2α (LAP2α), a regulator of the tumor suppressor retinoblastoma protein (RB). We demonstrate that, for NUP98-HOXA9 (NHA9), the best-studied NUP98 fusion protein, its effect(s) on nuclear architecture largely depend(s) on RB.

[Bidirectionality of cardiovascular risk factors in patients with urolithiasis: current state of the problem].

The most common risk factors for cardiovascular disease and urolithiasis are presented in the article. Data on the prevalence of urolithiasis are discussed, as well as the pathogenetic mechanisms of stone formation in patients with metabolic syndrome, dyslipidemia, and arterial hypertension. The bi-directional relationship of cardiovascular risk factors and urolithiasis is generalized.

Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.

Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH-SCKS) include a heterogeneous group of autosomal recessive inherited diseases characterized by primary (congenital) microcephaly, the absence of visceral abnormalities, and a variable degree of cognitive impairment, short stature and facial dysmorphism. Recently, biallelic variants in the nuclear pore complex (NPC) component nucleoporin 85 gene (NUP85) were reported to cause steroid-resistant nephrotic syndrome (SRNS). Here, we report biallelic variants in NUP85 in two pedigrees with an MCPH-SCKS phenotype spectrum without SRNS, thereby expanding the phenotypic spectrum of NUP85-linked diseases.

Centrosome and ciliary abnormalities in fetal akinesia deformation sequence human fibroblasts.

Ciliopathies are clinical disorders of the primary cilium with widely recognised phenotypic and genetic heterogeneity. Here, we found impaired ciliogenesis in fibroblasts derived from individuals with fetal akinesia deformation sequence (FADS), a broad spectrum of neuromuscular disorders arising from compromised foetal movement. We show that cells derived from FADS individuals have shorter and less primary cilia (PC), in association with alterations in post-translational modifications in α-tubulin.

Mitotic checkpoint protein Mad1 is required for early Nup153 recruitment to chromatin and nuclear envelope integrity.

Nucleoporin Nup153 is a multifunctional protein and a known binding partner of mitotic checkpoint protein Mad1 (also known as MAD1L1). The functional relevance of their interaction has remained elusive. Here, we have further dissected the interface and functional interplay of Nup153 and Mad1.

Targeted CRM1-inhibition perturbs leukemogenic NUP214 fusion proteins and exerts anti-cancer effects in leukemia cell lines with rearrangements.

Chromosomal translocations fusing the locus of nucleoporin each with the proto-oncogenes and are recurrent in, largely intractable, acute leukemias. The molecular basis underlying the pathogenesis of SET-NUP214 and DEK-NUP214 are still poorly understood, but both chimeras inhibit protein nuclear export mediated by the β-karyopherin CRM1. In this report, we show that SET-NUP214 and DEK-NUP214 both disturb the localization of proteins essential for nucleocytoplasmic transport, in particular for CRM1-mediated protein export.

Disclosing the Interactome of Leukemogenic NUP98-HOXA9 and SET-NUP214 Fusion Proteins Using a Proteomic Approach.

The interaction of oncogenes with cellular proteins is a major determinant of cellular transformation. The NUP98-HOXA9 and SET-NUP214 chimeras result from recurrent chromosomal translocations in acute leukemia. Functionally, the two fusion proteins inhibit nuclear export and interact with epigenetic regulators.

Gene-to-gene interactions and the association of TP53, XRCC1, TNFα, HMMR, MDM2 and PALB2 with breast cancer in Kyrgyz females.

Background: At present, little is known about the genetic background of breast cancer (BC) in Kyrgyz. Therefore, the aim of this study was to assess gene-to-gene interactions and the contribution of p.Arg72Pro (TP53 gene), p.