Words similar to autosomal
Example sentences for: autosomal
How can you use “autosomal” in a sentence? Here are some example sentences to help you improve your vocabulary:
Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the gene encoding the CFTR chloride channel [ 1 ] . CFTR is known to possess multiple cellular functions beyond its role as an apical membrane chloride channel [ 2 ] . For example, regulation of other ion channels, such as the epithelial sodium channel and the outwardly rectified chloride channel, are well-described functions of CFTR [ 3 4 ] . Numerous other functions, such as regulation of intracellular vesicular pH, regulation of membrane recycling, and regulation of mucin exocytosis are less firmly established.
CADASIL, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Currently, several risk factors have been identified including cigarette smoking, arterial hypertension, gender, aging, atherosclerosis and heavy alcohol consumption [ 9 10 11 12 ] . Initial indications of a genetic component were based on collections of case reports that suggested that IAs are associated with some rare simple Mendelian disorders, e.g. autosomal dominant polycystic kidney disease, Ehlers Danlos syndrome type IV and the Marfan syndrome [ 13 ] . More recent systematic prevalence estimates indicate either absence of association or markedly reduced prevalence of IA among patients with rare simple Mendelian disorders [ 14 15 ] . Also, genetic analyses of genes known to cause some simple Mendelian disorders have proven negative for collections of patients with IA [ 16 17 ] . The familial occurrence of IAs not associated with known simple Mendelian disorders was first noted in 1942 [ 18 ] and, since then, nearly one hundred case reports and review articles have been published.
Menasche et al . [ 74 ] found mutations in the Rab27A gene in 16 patients with Griscelli's syndrome, an autosomal recessive disorder characterized by defects in skin pigmentation and T-lymphocyte and macrophage activation.
Mutations in TMC1 are responsible for the autosomal dominant human hearing disorder DFNA36 and for the recessive deafness DFNB7/11 [ 5 ] ; the corresponding murine gene Tmc1 also causes deafness in the mutant mouse strains Beethoven ( Bth ) and deafness ( dn ) [ 6 ] . Bth / Bth mice display altered potassium currents in early postnatal cochlear hair cells, in particular Ik,n and Ik,f currents appear to be depressed [ 10 ] . This observation led to the hypothesis that Tmc1 may participate directly or indirectly in regulating the permeability of potassium channels [ 10 ] . Because of the high level of conservation of the amino acid sequences among the eight mammalian TMC proteins (Figure 1, Additional file 1), we speculate that other TMC proteins may as well be modifiers of ion channels or transporters.
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