Inherited disease
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In this study, we conducted sequencing of the entire gene coding region (WES) in the patient and identified a compound heterozygote variants (c.289C>G, p.Arg97Gly and c.433C>T, p.Arg145Trp) in the TNNI3 gene. These variants were inherited from the patient's father and mother, who were heterozygous variant carriers. These variants were also identified as the pathogenic variants in the ClinVar database (accession number VCV001331910.2 and VCV000012426.28, respectively) and were the cause of the patient's disease.
12p dianmotminh02 03-05-2024 1 1 Download
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Oxidoreductases (ORases) are enzymes that catalyze oxidation and reduction reactions in cells or extracellular compartments of the body. Genetic mutations and other factors that affect ORase activity have been implicated in a range of diseases, especially inherited metabolic disorders. Aldose reductase, sorbitol dehydrogenase, xanthine oxidoreductase are the ORases with relevance to diabetes pathology.
7p dianmotminh02 03-05-2024 3 1 Download
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Ebook "Muscle gene therapy" will bring together the leaders in the field of muscle gene transfer to provide an updated overview on the progress of muscle gene therapy. It will also highlight important clinical applications of muscle gene therapy. The new knowledge on the immune response to viral vectors has added new insight in overcoming the immune obstacles. Most importantly, the field has finally moved from small experimental animal models to human patients.
281p tracanhphuonghoa1007 22-04-2024 3 1 Download
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Part 2 book "General and oral pathology for dental hygiene practice" includes content: Developmental disorders of the orofacial complex; disorders of genetics and inheritance; neoplasms of the oral soft tissues and facial skin; neoplasms of the bones of the mandible and maxilla; systemic pathology and oral manifestations of systemic diseases.
180p muasambanhan10 11-04-2024 2 1 Download
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Part 2 book "Equine ophthalmology" includes content: Diseases of the uvea, uveitis, and recurrent uveitis; diseases and surgery of the lens; glaucoma; diseases of the equine vitreous and retina; equine vision; inherited ocular disorders; equine neuro ophthalmology; ocular manifestations of systemic disease; national and international regulations on ophthalmic disease and medications; management of blind horses.
440p muasambanhan10 03-04-2024 4 0 Download
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Part 2 book "Molecular diagnostics - Fundamentals, methods, and clinical applications" includes content: DNA polymorphisms and human identifi cation, detection and identifi cation of microorganisms; molecular detection of inherited diseases, molecular oncology, DNA based tissue typing, quality assurance and quality control in the molecular laboratory.
303p muasambanhan10 06-04-2024 3 0 Download
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Inherited susceptibility to common, complex diseases may be caused by rare, pathogenic variants (“monogenic”) or by the cumulative effect of numerous common variants (“polygenic”). Comprehensive genome interpretation should enable assessment for both monogenic and polygenic components of inherited risk.
12p vibransone 28-03-2024 3 2 Download
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Next-generation sequencing technologies have enabled a dramatic expansion of clinical genetic testing both for inherited conditions and diseases such as cancer. Accurate variant calling in NGS data is a critical step upon which virtually all downstream analysis and interpretation processes rely.
13p vibransone 28-03-2024 4 2 Download
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Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several diverse biological signaling pathways: TGFB, NOTCH, SHH, and more.
10p vioraclene 31-03-2024 8 2 Download
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DNA sequencing is increasingly incorporated into the routine care of cancer patients, many of whom also carry inherited, moderate/high-penetrance variants associated with other diseases. Yet, the prevalence and consequence of such variants remain unclear.
13p vibransone 28-03-2024 4 2 Download
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Non-invasive prenatal testing (NIPT) as a screening method for common chromosomal abnormalities such as trisomy 21, 18, and 13 has been widely adopted. In the last five years, the possibility of NIPT to detect common single-gene disorders (SGD) due to de novo mutations or paternal inherited had been reported worldwide.
8p vilarry 12-03-2024 1 1 Download
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As the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in inherited cardiac condition (ICC) genes, including secondary findings.
15p vicwell 29-02-2024 2 2 Download
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Despite the acceleration of somatic driver gene discovery facilitated by recent large-scale tumor sequencing data, the contribution of inherited variants remains largely unexplored, primarily focusing on previously known cancer predisposition genes (CPGs) due to the low statistical power associated with detecting rare pathogenic variant-phenotype associations.
18p vicwell 29-02-2024 3 1 Download
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5’ untranslated regions (5’UTRs) are essential modulators of protein translation. Predicting the impact of 5’UTR variants is challenging and rarely performed in routine diagnostics. Here, we present a combined approach of a comprehensive prioritization strategy and functional assays to evaluate 5’UTR variation in two large cohorts of patients with inherited retinal diseases (IRDs).
21p vicwell 29-02-2024 3 1 Download
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The diagnostic yield of genetic testing for inherited cardiac diseases is up to 40% and is primarily indicated for screening of at-risk relatives. Here, we evaluate the role of genomics in diagnosis and management among consecutive individuals attending a specialised clinic and identify those with the highest likelihood of having a monogenic disease.
14p vicwell 29-02-2024 4 1 Download
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Part 2 book "Mayo clinic neurology board review - Basic sciences and psychiatry for initial certification" includes content: Cellular signaling, cellular processes, cellular injury and death, neuropharmacology, sleep pathophysiology, patterns of inheritance in neurogenetic disease, chromosomal syndromes, electroencephalography, nerve conduction studies and needle electromyography, cerebrospinal fluid, evoked potentials, neuroimaging,... and other contents.
206p muasambanhan07 20-02-2024 4 0 Download
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Huntington’s disease is an autosomal dominant inherited disorder characterized by personality changes (such as irritability and restlessness) and psychotic symptoms (such as hallucinations and delusions). When the personality changes become noticeable, involuntary movements (chorea) also develop.
5p vitiki 30-01-2024 7 2 Download
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Hemophilia is an X-linked, recessive inherited disease caused by a defect or deficiency of one of the coagulation factors (VIII or IX). It is considered a rare disease in females. One of the reasons that hemophilia affects females is Turner syndrome.
3p vitiki 30-01-2024 6 2 Download
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Factor XII deficiency can be related to either homozygous or compound heterozygous pathogenic variants in the F12 gene. The disease is commonly known as Hageman trait and is inherited in both autosomal recessive or dominant patterns.
4p vitiki 30-01-2024 4 2 Download
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Ebook "Multigenic and induced systemic resistance in plants" has been known for the past century that plants carry genetic information for inherited resistance against many pathogenic organisms including fungi, bacteria, and viruses, and that the relationship between pathogenic organisms and hosts plants are rather complex and in some cases time dependent.
538p tachieuhoa 28-01-2024 9 3 Download