Disease etiology
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Intrachromosomal triplications (TRP) can contribute to disease etiology via gene dosage effects, gene disruption, position effects, or fusion gene formation. Recently, post-zygotic de novo triplications adjacent to copynumber neutral genomic intervals with runs of homozygosity (ROH) have been shown to result in uniparental isodisomy (UPD).
14p vibransone 28-03-2024 6 2 Download
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Congenital heart disease (CHD) occurs in almost 1% of newborn children and is considered a multifactorial disorder. CHD may segregate in families due to significant contribution of genetic factors in the disease etiology. The aim of the study was to identify pathophysiological mechanisms in families segregating CHD.
13p vibransone 28-03-2024 4 2 Download
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Humans and viruses have co-evolved for millennia resulting in a complex host genetic architecture. Understanding the genetic mechanisms of immune response to viral infection provides insight into disease etiology and therapeutic opportunities.
18p vibransone 28-03-2024 2 2 Download
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Psychiatric disorders are multigenic diseases with complex etiology that contribute significantly to human morbidity and mortality. Although clinically distinct, several disorders share many symptoms, suggesting common underlying molecular changes exist that may implicate important regulators of pathogenesis and provide new therapeutic targets.
12p vioraclene 31-03-2024 2 1 Download
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Genomic analysis of the molecular neuropathology of tuberous sclerosis using a human stem cell model
Tuberous sclerosis complex (TSC) is a genetic disease characterized by benign tumor growths in multiple organs and neurological symptoms induced by mTOR hyperfunction. Because the molecular pathology is highly complex and the etiology poorly understood, we employed a defined human neuronal model with a single mTOR activating mutation to dissect the disease-relevant molecular responses driving the neuropathology and suggest new targets for treatment.
14p vioraclene 31-03-2024 2 1 Download
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The next-generation sequencing revolution has substantially increased our understanding of the mutated genes that underlie complex neurodevelopmental disease. Exome sequencing has enabled us to estimate the number of genes involved in the etiology of neurodevelopmental disease, whereas targeted sequencing approaches have provided the means for quick and cost-effective sequencing of thousands of patient samples to assess the significance of individual genes.
9p vioraclene 31-03-2024 5 2 Download
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Immunoglobulin G4-related disease (IgG4-RD) and systemic sclerosis (SSc) are rare autoimmune diseases characterized by the presence of CD4+ cytotoxic T cells in the blood as well as inflammation and fibrosis in various organs, but they have no established etiologies.
14p vibransone 28-03-2024 4 2 Download
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Knowledge of the molecular etiology of neurodegenerative brain diseases (NBD) has substantially increased over the past three decades. Early genetic studies of NBD families identified rare and highly penetrant deleterious mutations in causal genes that segregate with disease.
13p vibransone 28-03-2024 3 2 Download
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Coronary artery disease (CAD) remains the leading cause of mortality worldwide despite enormous efforts devoted to its prevention and treatment. While many genetic loci have been identified to associate with CAD, the intermediate causal risk factors and etiology have not been fully understood. This study assesses the causal effects of 37 heritable clinical factors on CAD in East Asian and European populations.
15p viellison 28-03-2024 5 2 Download
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Structural variants (SVs) are implicated in the etiology of Mendelian diseases but have been systematically underascertained owing to sequencing technology limitations. Long-read sequencing enables comprehensive detection of SVs, but approaches for prioritization of candidate SVs are needed.
13p viellison 28-03-2024 5 1 Download
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Ebook "Reelin glycoprotein: Structure, biology and roles in health and disease" is a serine protease with important roles in embryogenesis and during adult life. Reelin mutations or deficiency of the protein product could cause abnormal cortical development and reelin signaling impairment in brain. Reelin abnormalities in several neurospychiatric disorders, such as autism, schizophrenia, mood disorders and lissencephaly, may provide mechanistic explanations for etiologies of these disorders.
473p cotieubac1004 15-03-2024 2 0 Download
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Stroke is an important cause of morbidity and mortality in young adults especially in developing countries. This study aimed at reviewing epidemiology, types, etiologies, risk factors in the young adults in 108 Military Central Hospital.
7p vilarry 12-03-2024 7 2 Download
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Psychological factors such as anxiety and depression have been recognized as the etiology of temporomandibular disorders. Objectives: The study aimed to evaluate the prevalence of temporomandibular disorders in dental students and describe the state of depression and anxiety and related factors in the students with the disorders.
7p vilarry 12-03-2024 3 2 Download
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Dilated cardiomyopathy (DCM) is a life-threatening heart disease and a common cause of heart failure due to systolic dysfunction and subsequent left or biventricular dilatation. A significant number of cases have a genetic etiology; however, as a complex disease, the exact genetic risk factors are largely unknown, and many patients remain without a molecular diagnosis.
21p vicwell 29-02-2024 5 2 Download
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Part 2 book "Canine and feline liver cytology" includes content: Inflammation, nuclear inclusions, cytological features of liver fibrosis, cytological features of biliary diseases, bile and gallbladder diseases, etiological agents, neoplastic lesions of the hepatic parenchyma.
159p muasambanhan08 23-02-2024 5 1 Download
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Primary myelofibrosis is a rare myeloproliferative disorder in middle-aged and old adults and should be distinguished from secondary and reactive causes of bone marrow fibrosis because, in reactive fibrosis, treatment approaches depend on the underlying etiology.
4p vilazada 31-01-2024 9 2 Download
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Congenital lower urinary tract obstruction (LUTO) is a rare but significant condition affecting fetal urinary tract development. LUTO has a range of etiologies, with posterior urethral valves (PUV) being the most common cause. The prenatal diagnosis of LUTO plays a crucial role in recognizing the condition and guiding management decisions.
5p vitiki 30-01-2024 2 2 Download
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Congenital ectopia lentis is characterized by dislocation of the lens caused by partial or complete abnormalities in the zonular fibers. It can be caused by either systemic diseases or isolated ocular diseases. Gene detection techniques can provide valuable information when an etiological diagnosis is challenging.
7p vitiki 30-01-2024 3 2 Download
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We report a case of the neonatal interstitial lung disease pulmonary interstitial glycogenosis in a girl with Jacobsen syndrome. While Jacobsen syndrome is caused by a deletion on the long arm of chromosome 11 and is genetically conformed, pulmonary interstitial glycogenosis is of unknown etiology and is diagnosed by lung biopsy. Pulmonary interstitial glycogenosis has not previously been described in association with Jacobsen syndrome.
6p vitiki 30-01-2024 3 2 Download
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Infections have been recognized as an uncommon cause of rhabdomyolysis, with evidence indicating a worse prognosis when compared to rhabdomyolysis caused by other etiologies. Diseases caused by Legionella pneumophila can present variably, ranging from mild to severe illness, as is sometimes the case with pneumonia.
5p vitiki 30-01-2024 3 2 Download