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Mutations within the desmosome are the main cause of Arrhythmogenic right ventricular cardiomyopathy ( ARVC ).
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Mutations and within
Mutations can have an impact on the phenotype of an organism, especially if they occur within the protein coding sequence of a gene.
Mutations in viral genes weakened their infectious ability, sometimes creating viruses that were able to infect and grow within only certain varieties of E coli.
Mutations within RNase MRP have been shown to cause cartilage-hair hypoplasia, a disease associated with an array of symptoms such as short stature, sparse hair, skeletal abnormalities and a suppressed immune system that is frequent among Amish and Finnish.
Mutations periodically occur within the Y chromosome and these mutations are passed on to males in subsequent generations.
Mutations within vWF are the usual cause of the most common inherited bleeding disorder, von Willebrand disease.
Mutations within the dystrophin gene can either be inherited or occur spontaneously during germline transmission.
Mutations in the D-loop can effectively track recent and rapid evolutionary changes such as within species and among very closely related species.
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 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 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 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 cause
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 of the thyroid-stimulating hormone receptor that cause a constitutive activation of the thyroid gland cells have been discovered recently.
Mutations in genes can cause also affect skin colour through oculocutaneous albinism ( OCA ) – a lack of pigment in the eyes, skin and sometimes hair that occurs occasionally in a very small fraction of the population.
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 OFD1 gene can also cause several other disorders with features that overlap with those of oral-facial-digital 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 in Complex III cause exercise intolerance as well as multisystem disorders.
Mutations of the c-kit receptor, leading to uncontrolled stimulation of the receptor, is a cause for the disease.
Mutations in tafazzin that cause Barth syndrome span many different categories: missense, nonsense, deletion, frameshift, splicing ( see Human Tafazzin ( TAZ ) Gene Mutation & Variation Database ).
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 the gene may cause impaired transport of lipids in the skin layer and may also lead to small version of the proteins responsible for skin development.
Mutations in the PPOX gene cause variegate porphyria.
Mutations in the WFS1 gene cause Wolfram syndrome, which is also known by the acronym DIDMOAD.
Mutations of the gene for this enzyme can cause unusual forms of diabetes or hypoglycemia.
Mutations in both copies of the PCCA or PCCB genes cause propionic acidemia.
* SGSH Mutations can cause Sanfilippo syndrome
* Mutations that cause CFC are found in the KRAS, BRAF, MEK1 and MEK2 genes.
* Mutations that cause Noonan Syndrome have been found in PTPN11 and SOS1.
Mutations in the KCNH2, KCNJ2, and KCNQ1 genes cause short QT syndrome.
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