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Mutations in this gene are rare.
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Mutations and gene
Mutations in the gene for the prion protein can cause a misfolding of the dominantly alpha helical regions into beta pleated sheets.
Mutations of the corresponding gene in mice ( FOXP2 is fairly well conserved ; modern humans share the same allele as Neanderthals ) cause reductions in size and vocalization rate.
Mutations in the gene HR can lead to complete hair loss, though this is not typical in humans.
Mutations can have an impact on the phenotype of an organism, especially if they occur within the protein coding sequence of a gene.
Mutations of this very polymorphic gene, such as Arg151Sys ( rs1805007 ), Arg160Trp ( rs1805008 ), Asp294Sys ( rs1805009 ), Val60Leu ( rs1805005 ) and Val92Met ( rs2228479 ) have been shown to cause red hair and pale skin that does not tan in a small percentage of the human population.
Mutations in the androgen receptor gene can cause problems with any of the steps involved in androgenization, from the synthesis of the androgen receptor protein itself, through the transcriptional ability of the dimerized, androgen-AR complex.
Mutations in the gene for aspartoacylase prevent the breakdown of N-acetylaspartate, and reduce brain acetate availability during brain development.
* JBTS3: Mutations in a gene of unknown function called AHI1 is associated with a subset of Joubert syndrome cases.
* Mutations in the OFD1 gene can also cause several other disorders with features that overlap with those of oral-facial-digital syndrome.
Mutations of the HFE gene account for 90 % of the cases of non-transfusional iron overload.
Mutations in the microsomal triglyceride transfer protein ( MTTP ) gene has been associated with this condition.
Mutations in this gene give rise to XY females with gonadal dysgenesis ( Swyer syndrome ); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome.
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 of the FOXP3 gene can prevent regulatory T cell development, causing the fatal autoimmune disease IPEX.
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 in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation.
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 in this gene and / or its regulatory regions cause or hypohaptoglobinemia.
Mutations in the human sonic hedgehog gene, SHH, cause holoprosencephaly type 3 ( HPE3 ) as a result of the loss of the ventral midline.
Mutations in different parts of the gene may lead to deafness or Stickler syndrome type III ( eye problems: myopia, retinal detachment and skeletal abnormalities ).
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 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 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 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.
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 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 rare
Mutations of the Chardonnay grape include the rare pink-berried " Chardonnay Rose "; also " Chardonnay Blanc Musqué ", which produces an intensely aromatic wine.
In 2007, Omega Red appeared as a rare figure in the Mutations & Monsters expansion set of the table top miniature game, HeroClix.
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 the PROS1 gene can lead to Protein S deficiency which is a rare blood disorder which can lead to an increased risk of thrombosis.
Mutations in these transporter proteins lead to a rare congenital disease called sitosterolaemia, which is characterised by:
* Mutations in the CHMP2B gene are associated with a rare behavioural syndrome akin to bvFTLD ( mainly in a large Jutland cohort ), presenting with a tau negative, TPD-43 negative, FUS negative, Ubiquitin positive pathology.
* Mutations in the TDP-43 gene ( known as TARBP or TAR DNA-binding protein ) are an exceptionally rare cause of FTLD, despite this protein being present in the pathological inclusions of many cases ( FTLD-TDP43 ).
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