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Mutations are characterized as either β < sup > o </ sup > or β thalassemia major if they prevent any formation of β chains, the most severe form of β thalassemia.
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Mutations and are
Mutations in two regulatory genes of white grapes turn off production of anthocyanins which are responsible for the color of purple grapes.
Mutations are changes in the DNA sequence of a cell's genome and are caused by radiation, viruses, transposons and mutagenic chemicals, as well as errors that occur during meiosis or DNA replication.
Mutations are caused by radiation, viruses, transposons and mutagenic chemicals, as well as errors that occur during meiosis or DNA replication.
Mutations in transpeptidases that lead to reduced interactions with an antibiotic are a significant source of emerging antibiotic resistance.
Mutations are an important force driving evolution.
Mutations that affect insulin-like signaling in worms, flies, and the growth hormone / IGF1 axis in mice are associated with extended lifespan.
Mutations are permanent, transmissible changes to the genetic material ( usually DNA or RNA ) of a cell.
Mutations are considered the driving force of evolution, where less favorable ( or deleterious ) mutations are removed from the gene pool by natural selection, while more favorable ( or beneficial ) ones tend to accumulate.
Mutations leading to the loss of function of a gene are much more common than mutations that produce a new, fully functional gene.
Mutations in the tafazzin gene ( TAZ, also called G4. 5 ) are closely associated with
Mutations periodically occur within the Y chromosome and these mutations are passed on to males in subsequent generations.
Mutations of the genes VHL, RET, NF1 ( Gene 17 Neurofibromatosis type 1 ), SDHB and SDHD are all known to cause familial pheochromocytoma / extra-adrenal paraganglioma.
Mutations are the ultimate source of genetic variation because they alter the order of bases in the nucleotides of DNA.
Mutations are likely to be rare and most mutations are neutral or deleterious, but in some instances the new alleles can be favored by natural selection.
Mutations in the Ras family of proto-oncogenes ( comprising H-Ras, N-Ras and K-Ras ) are very common, being found in 20 % to 30 % of all human tumours.
Mutations in this gene are rare.
Mutations affecting repressor are said to be recessive to wild type ( and that wild type is dominant ), and this is explained by the fact that repressor is a small protein which can diffuse in the cell.
Mutations usually sound at pitches in the harmonic series of the fundamental and, except where they are derived from unit ranks, are always tuned pure.
Mutations within the desmosome are the main cause of Arrhythmogenic right ventricular cardiomyopathy ( ARVC ).
Mutations of the WT1 gene on chromosome 11 p 13 are observed in approximately 20 % of Wilms ' tumors .< ref > At least half of the Wilms ' tumors with mutations in WT1 also carry mutations in CTNNB1, the gene encoding the proto-oncogene beta-catenin.
Mutations and characterized
Mutations in the gene coding for the NADPH oxidase cause an immunodeficiency syndrome called chronic granulomatous disease, characterized by extreme susceptibility to infection, especially catalase positive organisms.
Mutations in the genes encoding this protein have been associated with White Sponge Nevus, characterized by oral, esophageal, and anal leukoplakia.
Mutations in the ceruloplasmin gene (< i > CP </ i >), which are very rare, can lead to the genetic disease aceruloplasminemia, characterized by hyperferritinemia with iron overload.
Mutations in human CNGA3 and CNGB3 are involved in complete achromatopsia, which is a rare, autosomal recessive inherited and congenital disorder characterized by the complete failure in color distinction.
Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure.
Mutations and either
Mutations in either of two major susceptibility genes, breast cancer susceptibility gene 1 ( BRCA1 ) and breast cancer susceptibility gene 2 ( BRCA2 ), confer a lifetime risk of breast cancer of between 60 and 85 percent and a lifetime risk of ovarian cancer of between 15 and 40 percent.
Mutations in the DNA binding regions for either of these proteins results in ablation of transgene GLUT-4 expression.
Mutations tend to fall into two categories, having either a very bad effect or very little effect: few mutations fall somewhere in between.
Mutations within the dystrophin gene can either be inherited or occur spontaneously during germline transmission.
Mutations in either of these genes disrupt the ability of this transporter protein to reabsorb these amino acids, allowing them to become concentrated in the urine.
Mutations and β
Mutations in APP associated with early-onset Alzheimer's have been noted to increase the relative production of Aβ < sub > 42 </ sub >, and thus one suggested avenue of Alzheimer's therapy involves modulating the activity of β and γ secretases to produce mainly Aβ < sub > 40 </ sub >.
Mutations and <
Mutations leading to defects in vitamin B < sub > 12 </ sub > metabolism or in its transport frequently result in the development of methylmalonic acidemia.
Mutations have been identified in residues between transmembrane domains III and IV which make up the fast inactivation gate of Na < sub > v </ sub > 1. 4.
In humans, GABA < sub > A </ sub >- ρ receptor subunits ρ1 and ρ2 are encoded by the and genes which are found on chromosome 6 whereas the gene for ρ3 is found on chromosome 3 Mutations in the ρ1 or ρ2 genes may be responsible for some cases of autosomal recessive retinitis pigmentosa.
Mutations and >
The National Gerbil Society .< http :// www. gerbils. pwp. blueyonder. co. uk / gerbils / genetics. htm # Mutations ></ ref >
Mutations in this region can affect the efficiency of gene transcription, which controls both the levels of mRNA and overall protein levels .< ref > name
Mutations and major
Mutations in collagen VIII, a major component of Descemet ’ s membrane secreted by endothelial cells, have been linked to the early-onset FED.
Mutations and if
Mutations can have an impact on the phenotype of an organism, especially if they occur within the protein coding sequence of a gene.
Mutations that cause the altered codon to produce an amino acid with similar functionality ( i. e. a mutation producing leucine instead of isoleucine ) are often also classified as silent ; if the properties of the amino acid are conserved, this mutation does not usually significantly affect protein function.
Mutations and prevent
Mutations in the gene for aspartoacylase prevent the breakdown of N-acetylaspartate, and reduce brain acetate availability during brain development.
Mutations of the FOXP3 gene can prevent regulatory T cell development, causing the fatal autoimmune disease IPEX.
Mutations that prevent the formation of MinE rings result in MinCD polymers ' extending well beyond the polar zones, preventing division from occurring.
Mutations in any of these genes prevent the proper production or assembly of the type IV collagen network, which is an important structural component of basement membranes in the kidney, inner ear, and eye.
Mutations in these genes alter the usual structure and function of potassium channels or prevent the assembly of normal channels.
Mutations in the KCNJ2 gene alter the usual structure and function of potassium channels or prevent the channels from being inserted correctly into the cell membrane.
Mutations in SLC25A13 typically prevent the production of any functional citrin, which inhibits the urea cycle and disrupts the production of proteins and nucleotides.
Mutations in the GCDH gene prevent production of the enzyme or result in the production of a defective enzyme with very low residual activity, or an enzyme with relatively high residual activity but still phenotypic consequences.
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