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Teratology is the study of abnormalities of physiological development in organisms during their life span. It is a sub-discipline in medical genetics which focuses on the classification of congenital abnormalities in dysmorphology caused by teratogens.
An acquired characteristic is a non-heritable change in a function or structure of a living organism caused after birth by disease, injury, accident, deliberate modification, variation, repeated use, disuse, misuse, or other environmental influence. Acquired traits are synonymous with acquired characteristics.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Genetic and Rare Diseases Information Center (GARD) Office of Rare Diseases (ORD), National Institutes of Health (NIH) CDC's National Center on Birth Defects and Developmental Disabilities; Genetic Disease Information from the Human Genome Project; Global Genes Project, Genetic and Rare Diseases Organization; List of Genetic Disorders - Genome.gov
NMD is a cellular mechanism that degrades mRNAs containing premature termination codons (PTCs), which can arise from mutations. Comprehensive analyses large scale genetics and gene expression datasets have enabled the systemic identification of the complex rules governing NMD efficiency, and quantification of their relative importance and effect size. [10]
Diseases involving ion pumps can produce symptoms similar to channelopathies, as they both involve the movement of ions across membranes. Brody disease (also known as Brody myopathy) includes symptoms similar to myotonia congenita , including muscle stiffness and cramping after initiating exercise (delayed muscle relaxation).
Learn how to download and install or uninstall the Desktop Gold software and if your computer meets the system requirements.
[1] [2] The focus of an LOVD is usually the combination between a gene and a genetic (heritable) disease. All sequence variants found in individuals are collected in the database, together with information about whether they could be causally connected to the disease (i.e. a disease-causing variant or mutation ) or not (i.e. a non-disease ...