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Mutations leading to the loss of function of a gene are much more common than mutations that produce a new, fully functional gene.
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Mutations and leading
Mutations of the c-kit receptor, leading to uncontrolled stimulation of the receptor, is a cause for the disease.
Mutations leading to carcinoma may be accelerated by genetic or environmental factors and other risk factors already described.
Mutations leading to defects in vitamin B < sub > 12 </ sub > metabolism or in its transport frequently result in the development of methylmalonic acidemia.
Mutations make c-kit function independent of activation by scf, leading to a high cell division rate and possibly genomic instability.
Mutations in the genes expressing this protein have been associated with the PC1 variant of pachyonychia congenita, an inherited disorder of the epithelial tissues in which keratin 6A is expressed, particularly leading to structural abnormalities of the nails, the epidermis of the palms and soles, and oral epithelia.
Mutations altering the usual structure and function of this sodium channel therefore disrupt regulation of muscle contraction, leading to episodes of severe muscle weakness or paralysis.
Mutations of the CFTR gene affect functioning of the chloride ion channels in these cell membranes, leading to cystic fibrosis and congenital absence of the vas deferens.
Mutations in the MTHFR gene could be one of the factors leading to increased risk of developing schizophrenia.
Mutations in the FLCN gene may interfere with the ability of folliculin to restrain cell growth and division, leading to the formation of noncancerous and cancerous tumors.
Mutations and loss
Mutations in the gene HR can lead to complete hair loss, though this is not typical in humans.
Mutations tend to result in the loss of CNGB3 function or gain of function ( often increased affinity for cGMP ) of CNGA3.
Mutations in the human sonic hedgehog gene, SHH, cause holoprosencephaly type 3 ( HPE3 ) as a result of the loss of the ventral midline.
Mutations that affect the normal function of these genes can result in retinitis pigmentosa and vision loss.
* Mutations in catenin genes can cause loss of contact inhibition that can promote cancer development and tumor formation.
Mutations in the COL11A2 gene lead to a loss of function of this type of collagen, resulting in the signs and symptoms of OSMED.
Mutations and function
* JBTS3: Mutations in a gene of unknown function called AHI1 is associated with a subset of Joubert syndrome cases.
Mutations of mitochondrial DNA can lead to a number of illnesses including exercise intolerance and Kearns-Sayre syndrome ( KSS ), which causes a person to lose full function of heart, eye, and muscle movements.
Mutations associated with the gene may result in changes in serotonin transporter function, and experiments with mice have identified more the 50 different phenotypic changes as a result of genetic variation.
Mutations in the PCCA or PCCB genes disrupt the function of the enzyme, preventing these acids from being metabolized.
Mutations in these genes typically lead to the synthesis of a truncated EXT protein which does not function normally.
Mutations that only mildly decrease the enzyme's function do not normally cause the severe form of LNS, but do produce a milder form of the disease which still features purine overproduction accompanied by susceptibility to gout and uric acid nephrolithiasis.
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 in the RPS6KA3 disturb the function of the protein, but it is unclear how a lack of this protein causes the signs and symptoms of Coffin – Lowry syndrome.
Mutations in these genes alter the usual structure and function of potassium channels or prevent the assembly of normal channels.
Mutations in any of these genes alter the structure or function of channels, which changes the flow of ions between cells.
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 any of these genes reduce or eliminate the function of the enzyme complex, preventing the normal breakdown of isoleucine, leucine, and valine.
Mutations in proto-oncogenes, which are the normally quiescent counterparts of oncogenes, can modify their expression and function, increasing the amount or activity of the product protein.
Mutations in proto-oncogenes can modify their expression and function, increasing the amount or activity of the product protein.
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 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.
* 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 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 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.
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