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101
Dimerization-dependent serine protease activity of FAM111A prevents replication fork stalling at topoisomerase 1 cleavage complexes
Published 2024-03-01“…Missense mutations in the catalytic domain cause hyper-autocleavage and are associated with genetic disorders with developmental defects. Despite the enzyme’s biological significance, the molecular architecture of the FAM111A serine protease domain (SPD) is unknown. …”
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102
Unraveling the function of TSC1-TSC2 complex: implications for stem cell fate
Published 2025-02-01“…Abstract Background Tuberous sclerosis complex is a genetic disorder caused by mutations in the TSC1 or TSC2 genes, affecting multiple systems. …”
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103
Probiotics in the Complex Treatment of Various Diseases of the Gastrointestinal Tract
Published 2020-04-01“…To present up-to-date information on the role of microbiota and its disorders in the development of various diseases of the gastrointestinal tract (GIT), including functional diseases, as well as to consider current methods of correction and maintenance of normal microbiota.General findings. …”
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104
Therapeutic role of isoflavones from traditional medicine in the management of polycystic ovary syndrome
Published 2025-03-01“…Introduction: Polycystic ovary syndrome (PCOS) is a significant public health problem and one of the most common gynaecological and endocrine disorder.This condition affects an estimated 8–13 % of women of reproductive age worldwide. …”
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105
Endothelial SHANK3 regulates tight junctions in the neonatal mouse blood-brain barrier through β-Catenin signaling
Published 2025-02-01“…Abstract Autism spectrum disorder (ASD) is a neurodevelopmental disability condition arising from a combination of genetic and environmental factors. …”
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106
Analysis of Amelogenin and Sex-determining Region on Y Chromosome Genes Obtained from Pulpal Tissue for Sex Estimation by using Multiplex Polymerase Chain Reaction
Published 2023-12-01“…Nevertheless, the amplification of both of these genes encounters limitations in determining sex, primarily due to deletions observed in certain racial groups and the influence of genetic disorders on these genes. This research aims to assess the precision of simultaneously amplifying both genes using multiplex polymerase chain reaction on samples derived from teeth that have been subjected to various forensic conditions. …”
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107
A case of neuronal intranuclear inclusion disease (NIID) presenting with hydrocephalus-like clinical features: case report
Published 2025-02-01“…Abstract Background Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by the presence of inclusions within the nuclei of various cell types. …”
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108
Combination of Gilbert's syndrome and gastrointestinal diseases
Published 2014-09-01“…Patients demonstrate various complaints related to disorders — nausea, decrease of appetite, heartburn, epigastric pain, defecation disorders. …”
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109
Hepatic and renal functions of paediatric patients with thalassaemia: a cross-sectional study from two large thalassaemia centres in Sri Lanka
Published 2025-02-01“…Objectives Thalassaemia is a genetic disorder of haemoglobin synthesis characterised by life-long chronic anaemia. …”
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110
Clinically meaningful improvements after gene therapy for aromatic L-amino acid decarboxylase deficiency (AADCd) in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) a...
Published 2025-02-01“…Abstract Background Aromatic L-amino acid decarboxylase deficiency (AADCd) is a rare genetic disorder characterized by movement disorders, motor and autonomic dysfunction, and developmental delays. …”
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111
Obstetrics and Gynecology /
Published 2006Table of Contents: “…Premature rupture of membranes -- Obstetric procedures -- Contraception -- Sterilization -- Vulvitis and vaginitis -- Sexually transmitted diseases -- Pelvic relaxation, urinary incontinence, and urinary tract infection -- Endometriosis -- Dysmenorrhea and chronic pelvic pain -- Disorders of the breast -- Gynecologic procedures -- Reproductive cycle -- Puberty -- Amenorrhea and dysfunctional uterine bleeding -- Hirsutism and virilization -- Menopause -- Infertility -- Premenstrual syndrome/premenstrual dysphoric disorder -- Cell biology and principles of cancer therapy -- Gestational trophoblastic neoplasia -- Vulvar and vaginal disease and neoplasia -- Cervical neoplasia and carcinoma -- Uterine leiomyoma and neoplasia -- Endometrial hyperplasia and cancer -- Ovarian and adnexal disease -- Human sexuality -- Sexual assault and domestic violence.…”
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112
Modifiable factors for irritable bowel syndrome: evidence from Mendelian randomisation approach
Published 2025-01-01“…Robust associations were found between multisite chronic pain and both IBS and coexisting disorders.Conclusions Our study identified a comprehensive array of potential modifiable factors and coexisting disorders associated with IBS, supported by genetic evidence, including genetic correlation and multiple MR analyses. …”
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113
Role of autophagy defects and significance of adherent-invasive <i>Escherichia coli</i> in Crohn's disease development
Published 2015-07-01“…Alteration of autophagy process (defects of NOD2/ CARD15, ATG16L1, IRGM genes) is one of genetically determined disorders of innate immunity typical for CD. …”
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114
Methodical approaches in experimental modelling of non-alcoholic fatty liver disease
Published 2015-09-01“…Genetic models are subdivided into two categories. …”
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115
Diagnostics and treatment of cardiac achalasia and cardiospasm: guidelines of the Russian gastroenterological association
Published 2018-08-01“…Cardiac achalasia is primary esophageal motor function disorder manifested by impaired lower esophageal sphincter relaxation and defects of thoracic esophagus peristalsis. …”
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116
Relationship between personality traits and spontaneous coronary artery dissection risk: evidence from Mendelian randomization
Published 2025-02-01“…Despite the elusive nature of its etiology, empirical evidence indicates a substantial correlation between sociopsychological factors and the disorder. This investigation endeavored to discern a genetic basis for personality traits influencing SCAD susceptibility.MethodsBidirectional univariate and multivariate Mendelian randomization (MR) analyses were hereby conducted to investigate the putative causal nexus between personality dimensions and SCAD risk. …”
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117
Duchenne muscular dystrophy: recent insights in brain related comorbidities
Published 2025-02-01“…This suggests that future genetic therapies could address both muscle and brain dysfunction in DMD patients.…”
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118
The design and rationale of the cardiac REHABilitation to improve metabolic health in Hypertrophic CardioMyopathy (REHAB-HCM) Study
Published 2025-02-01“…Study objective: Hypertrophic cardiomyopathy (HCM) is the most common genetic myocardial disorder increasingly characterized by concomitant metabolic syndrome. …”
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119
Isolation of Intact Mitochondria From Drosophila melanogaster and Assessment of Mitochondrial Respiratory Capacity Using Seahorse Analyzer
Published 2025-02-01“…The rapid biochemical assessment of mitochondria, in combination with the utility of Drosophila as an in vivo genetic model system, offers great potential for researchers to probe the impact of genetics and pharmacologic interventions on mitochondrial respiratory capacity.…”
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120
Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN
Published 2024-12-01“…Progerias are rare hereditary genetic disorders that cause the onset of aging to occur earlier than generally expected, which initiates the progression of many age-related diseases. …”
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