Icelandic u-umlaut, a similar process affecting only /a/ and operating productively in modern Icelandic
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U-mutation, or u-umlaut, can refer to various processes that occurred in the history of some Germanic languages.
mutation | Mutation | BRCA mutation | The Next Mutation | Mutation rate | Germanic a-mutation | Dilute budgerigar mutation | ''BRCA'' mutation |
Germanic a-mutation, a historic sound change in Northwest Germanic languages.
Arthrogryposis–renal dysfunction–cholestasis syndrome (also known as "ARC syndrome") is a cutaneous condition caused by a mutation in the VPS33B gene.
Ataxia-telangiectasia like disorder (ATLD) is an extremely rare condition, caused by mutation in the hMre11 gene, that could be considered in the differential diagnosis of A-T.
Although most recognized for its correlation with the onset of glaucoma, the malformation is not limited to the eye, as Axenfeld syndrome when associated with the PITX2 genetic mutation usually presents congenital malformations of the face, teeth, and skeletal system.
Onset is typically after the age of 7 years and it is seen most frequently in the German shepherd dog, Pembroke Welsh corgi, and boxer dog, though the disorder is strongly associated with a gene mutation in SOD1 that has been found in 43 breeds as of 2008, including the wire fox terrier, Chesapeake Bay retriever, Rhodesian ridgeback, and Cardigan Welsh corgi.
3β-Hydroxysteroid dehydrogenase II deficient congenital adrenal hyperplasia (3β-HSD CAH) is an uncommon form of congenital adrenal hyperplasia (CAH) resulting from a mutation in the gene for one of the key enzymes in cortisol synthesis by the adrenal gland, 3β-hydroxysteroid dehydrogenase (3β-HSD) type II (HSD3B2).
Another common underlying mechanism of CMS is the mutation of the rapsyn protein, coded by the RAPSN gene.
The Sindarin language created by J. R. R. Tolkien has mutation patterns inspired by those of Welsh.
It is associated with a mutation of a phenylalanine to leucine in SEC23A.
Researchers from the Wellcome Trust Sanger Institute reported that the mutation of CUX1 reduces the inhibitory effects of a biological inhibitor, PIK3IP1 (phosphoinositide-3-kinase interacting protein 1), resulted in higher activity of the growth promoting enzyme, phosphoinositide 3-kinase (PI3K) which leads to tumor progression.
Five missense mutations (A284P, R454H, V489E, C566Y, and V605F) and a splicing mutation in the POR genes have been found in patients who had hormonal evidence for combined deficiencies of two steroidogenic cytochrome P450 enzymes - P450c17 CYP17A1, which catalyzes steroid 17α-hydroxylation and 17,20 lyase reaction, and P450c21 21-Hydroxylase, which catalyzes steroid 21-hydroxylation.
It is a life threatening disease with the molecular underpinnings being the desmosomal constituents (in rank of highest mutation rates) Plakophilin2, Desmoplakin, Desmoglein2, Desmocollin2 and Plakoglobin.
Genetic carrier, a person or organism that has inherited a genetic trait or mutation, but displays no symptoms
A mutation in the gene GCH1, which encodes the enzyme GTP cyclohydrolase I, disrupts the production of BH4, decreasing dopamine levels (hypodopaminergia).
In both cases, these changes in excitability are typically due to mutation of the sodium channel Evolving digital ecological networks
Steen Rasmussen was the first to include the possibility of mutation in self-replicating computer programs by extending the once-popular Core War game, where programs competed in a digital battle ground for the computer's resources.
In January 2001, researchers at Fordham University and Massachusetts General Hospital simultaneously reported finding the genetic mutation that causes FD, a discovery that opens the door to many diagnostic and treatment possibilities.
Human TGF-beta induced Ig-H3 (BIgH3) protein (4 FAS1 domains), where the FAS1 domains mediate cell adhesion through an interaction with alpha3/beta1 integrin; mutation in the FAS1 domains result in corneal dystrophy.
This has been traced to a single mutation in a gene called SEL1L.
These include, in descending order of frequency, neurofibromatosis Recklinghausen (NF-1), Carney's triad (gastric GIST, pulmonary chondroma and extra-adrenal paraganglioma), germline gain-of-function mutations in c-Kit/PDGFRA, and the Carney-Stratakis syndrome.
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--needs tweeking--> as tumors whose behavior is driven by mutations in the Kit gene or PDGFRA gene, and may or may not stain positively for Kit.
Together with the mathematician Reinhard Bürger at the University of Vienna, he contributed to the theory of mutation-selection balance and the evolution of dominance modifiers.
CHEK2: Approximately one out of 40 northern Europeans have a mutation in this gene, making it a common mutation.
The most famous such mutation is Antennapedia, in which legs grow from the head of a fly instead of the expected antennae.
Homeotic mutants in angiosperms are thought to be rare in the wild: in the annual plant Clarkia, (Onagraceae), homeotic mutants are known where the petals are replaced by a second whorl of sepal like organs, originating via a mutation governed by a single recessive gene.
Hyper-IgM syndrome type 4, which is a defect in class switch recombination downstream of the AICDA gene that does not impair Somatic Hyper Mutation.
A proportion of patients have a mutation involving the PDGFRA and FIP1L1 genes on the fourth chromosome, leading to a tyrosine kinase fusion protein.
In the Ayu (Plecoglossus altivelis), an East Asian protacanthopterygian, control region mutation rate is not markedly lowered, but sequence differences between subspecies are far lower in the control region than elsewhere.
It is associated with a rare mutation of the transcription factor gene SOX18.
Mutations in the HADHA gene lead to inadequate levels of an enzyme called long-chain 3-hydroxyacyl-coenzyme A (CoA) dehydrogenase, which is part of a protein complex known as mitochondrial trifunctional protein.
In 2013, Sellars' case was again profiled on British television in a special called Shrinking My 17 Stone Legs, in which it was determined that Sellars' condition was not, in fact, Proteus syndrome, but rather a PIK3CA gene mutation.
Myrf has been shown to be significantly downregulated in a mouse model carrying the same mutation in the NPC1 protein that is underlying Niemann-Pick type C1 disease, a neurodegenerative process in which dysmyelination is a main pathogenic factor.
DNA sequencing revealed that the affected foal was homozygous for a missense mutation in the gene encoding CLCN1, a protein which regulates the excitability of the skeletal muscle.
Mutations associated with papillary thyroid cancer are mainly two forms of chromosomal translocation and one form of point mutation.
90-100% of patients with a clinical diagnosis of PJS have a mutation in the STK11/LKB1 gene.
Port-wine stains were shown to be caused by a somatic activating c.548G→A mutation in the GNAQ gene.
This mutation activates a cryptic splice site and gives rise to a form of lamin A with a deletion of 50 amino acids near the C-terminus.
One form of PBP is found to occur within patients that have a CuZn-superoxide dismutase (SOD1) mutation.
Restrictive dermopathy (RD) is caused either by the loss of the gene ZMPSTE24, which encodes a protein responsible for the cleavage of farnesylated prelamin A (progerin) into mature non-farnesylated lamin, or by a mutation in the LMNA gene.
However, PHA2 is not caused by mutations within the NCC gene, but by mutations in NCC regulators WNK1 and WNK4.
It is caused by a somatic activating mutation occurring in the GNAQ gene.
Researchers have found a mutation in the WNT3 gene in people with tetra-amelia syndrome from one large family.
TBS is an autosomal dominant involving the a mutation of the gene SALL1, which encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin.
Direct sequence analysis of genomic DNA from blood can be used to perform a mutation analysis for the TALDO1 gene responsible for the Transaldolase enzyme.
Carl Erich Correns and Erwin Baur, in separately conducted researches on Pelargonium and Mirabilis plants, observed a green-white variation (later found as the result of mutations in the chloroplast genome) that did not follow the Mendelian laws of inheritance.
Based in Northern Virginia, United Mutation attracted the interest of household punk names Ian MacKaye who partnered with the band for a split label release on Dischord Records and Jello Biafra who insisted United Mutation open a Washington DC gig for the Dead Kennedys.
CADASIL syndrome (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy syndrome) is a hereditary stroke condition due to a Notch 3 gene mutation on Chromosome 19.
Several mutations were found in the protein O-Mannosyltransferase POMT1 and POMT2 genes, and one mutation was found in each of the fukutin and fukutin-related protein genes.
The leucistic trait is due to a recessive mutation in the gene for Tyrosinase (TYR), an enzyme responsible for the production of melanins.