genetic disease
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- Substance dependence is a complex environmental and genetic disorder that results in serious health and socioeconomic consequences.
- Waardenburg syndrome(WS)is a rare hereditary auditory-pigmentary syndrome.
- Down syndrome (DS), or trisomy 21, is one of the most common autosomal mutations.
- Usher syndrome is a heterogeneous genetic disease that is the most common cause of hereditary blindness-deafness.
- Mutations in the GJB2 gene are the most common cause of prelingual deafness, accounting for approximately half of all nonsyndromic recessive deafness.
- Cancer is as much an epigenetic disease as it is a genetic and cytogenetic disease.
- Mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 genes are known to be a common cause of hearing loss.
- Cancer is a disease of genes.
- The RET proto-oncogene is the major gene involved in the complex genetics of Hirschsprung disease (HSCR), or aganglionic megacolon, showing causative loss-of-function mutations in 15-30% of the sporadic cases.
- Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar ataxia, seizures, retinitis pigmentosa, and cognitive disorders, usually beginning between 13 and 25 years of age.
- Prader-willi syndrome (PWS) is a genetic disease caused by loss of expression of the paternally inherited copy of several genes on the long arm of chromosome 15.
- Alport-leiomyomatosis syndrome is a polygenic syndrome with a dominant X-linked inheritance pattern resulting from a large deletion in the 5' end of the COL4A5 gene coding for the type IV collagen alpha 5 chains.
- One of the most puzzling questions surrounding the long QT syndrome (LQTS) concerns the reasons underlying the impressive phenotypic heterogeneity in the presence of the same genotype.
- As one of the most described epigenetic marks in human cancers, DNA methylation plays essential roles in gene expression regulation and has been implicated in the prognosis and therapeutics of many cancers.
- Inborn errors of metabolism (IEM) are a group of rare genetic diseases caused by defects in different types of proteins, including enzymes, structural proteins or transporters.
- The abundance and dynamics of copy number variants (CNVs) in mammalian genomes poses new challenges in the identification of their impact on natural and disease phenotypes.
- Hutchinson-Gilford progeria syndrome (HGPS) is one of the most severe disorders among laminopathies a heterogeneous group of genetic diseases with a molecular background based on mutations in the LMNA gene and genes coding for interacting proteins.