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Mutations in the Notch 3 gene ( on the short arm of chromosome 19 ) cause an abnormal accumulation of Notch 3 at the cytoplasmic membrane of vascular smooth-muscle cells both in cerebral and extracerebral vessels, seen as granular osmiophilic deposits on electron microscopy.
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Mutations and Notch
Mutations in elements of the Notch signaling pathway affect the earliest intestinal cell fate decisions during zebrafish development.
Mutations and 3
Mutations in the human sonic hedgehog gene, SHH, cause holoprosencephaly type 3 ( HPE3 ) as a result of the loss of the ventral midline.
Mutations occur mainly in exons 2, 3, 5 and 10.
* F. Dauch, U. Apitzsch, A. Catsch, and K. G. Zimmer RBE of Fast Neutrons by the Release of Mutations in Drosophila Melanogaster German, Mutation Research ( Netherlands ) Volume 3, 185-193 ( 1966 ).
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 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 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 on
One deck represents random Alpha Mutations, which can be drawn to gain temporary powers, and the other contains various Omega Tech, powerful technological devices that could possibly backfire on those that use them.
Koolhaas's next landmark publications were a product of his position as professor at Harvard University, in the design school's " Project on the City "; firstly the 720-page Mutations, followed by The Harvard Design School Guide to Shopping ( 2002 ) and The Great Leap Forward ( 2002 ).
In 1998, Beck released the album Mutations on the Geffen label, which led to a series of lawsuits between Beck, Bong Load and Geffen which were settled in 1999.
Mutations periodically occur within the Y chromosome and these mutations are passed on to males in subsequent generations.
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.
Godrich has collaborated with American singer-songwriter Beck several times, on Mutations ( 1998 ), Sea Change ( 2002 ) and The Information ( 2006 ).
The five recorded sections on the record, with G. Donald Harrison being the narrator, himself describing the five selections-being of: I-Principles, II-Flutes, III-Strings, IV-Reeds, and V-Mixtures and Mutations.
Mutations of the Lys31Gln and the Asn30Gln had the effect of lessening the CTX block of the pore on the Shaker channel.
* Beck's " High Five ( Rock the Catskills )" on the album Odelay ( 1996 ), starting at 2: 10 and finishing at 2: 30 ; and on " Tropicalia " from the album Mutations ( 1998 ) played by Smokey Hormel
The Deadly Hume covered " I Hate You " on the Phantom Records tenth anniversary compilation Assorted Desecrations And Magnificent Mutations ( 1988 ).
Mutations have also been found on the cytoplasmic loops between the S4 and S5 helices of domains II, III and IV, which are the binding sites of the inactivation gate.
Mutations in the ATP7A gene, located on chromosome Xq12-q13, are the cause of Menkes syndrome.
Mutations in these cells are transmitted to offspring, while, on the other hand, those in somatic cells are not.
Mutations that occur early on in development will affect a greater number of cells and can result in an individual that can be identified as a mosaic strictly based on phenotype.
Left-handed Waronker first became known in the late 1990s for his work with Beck ( on Odelay, Mutations, Midnite Vultures, Sea Change, Guero and Modern Guilt ), and was also a session drummer on The Smashing Pumpkins ' 1998 album Adore.
Mutations in the FMO3 gene, which is found on the long arm of chromosome 1, cause trimethylaminuria.
Mutations in the FLCN gene, located on the short arm of chromosome 17 ( 17p11. 2 ), cause Birt – Hogg – Dubé syndrome.
Mutations in any of the genes disrupt this process to cause a variety of syndromes depending on the type of mutation and other factors.
Mutations on the other hand can also be part of a survival strategy.
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