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Longer titles found: MutationTaster (view), Mutation (Jordan algebra) (view), Mutation (RedHook album) (view), Mutation (algebra) (view), Mutation (disambiguation) (view), Mutation (evolutionary algorithm) (view), Mutation (knot theory) (view), Mutation (novel) (view), Mutation Frequency Decline (view), Mutation Nation (view), Mutation Research (journal) (view), Mutation accumulation experiments (view), Mutation accumulation theory (view), Mutation bias (view), Mutation breeding (view), Mutation frequency (view), Mutation of J.B. (view), Mutation rate (view), Mutation research (view), Mutation testing (view), Mutational meltdown (view), Mutational signatures (view), Mutationism (view), Mutations (Beck album) (view), Mutations (Fight album) (view), Mutations (Vijay Iyer album) (view), Mutations EP (view), Mutation–selection balance (view), Point mutation (view), Ninja Turtles: The Next Mutation (view), Missense mutation (view), Nonsense mutation (view), Frameshift mutation (view), Consonant mutation (view), Germanic a-mutation (view), Pocket mutation chess (view), BRCA mutation (view), I-mutation (view), Germline mutation (view), Somatic hypermutation (view), Silent mutation (view), Neutral mutation (view), Somatic mutation (view), List of Ninja Turtles: The Next Mutation characters (view), De novo mutation (view), Tyranny and Mutation (view), Transmutation (Mutatis Mutandis) (view), Point accepted mutation (view), Blue budgerigar mutation (view), Ino budgerigar mutation (view), Splice site mutation (view), Adaptive mutation (view)

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Body modification (385 words) [view diff] no match in snippet view article find links to article

Body modification (or body alteration) is the deliberate altering of the human anatomy or human physical appearance. In its broadest definition it includes

Bandai for the PlayStation 2. The four games, .hack//Infection, .hack//Mutation, .hack//Outbreak, and .hack//Quarantine, all feature a "game within a game"

common trope in fiction. The new phenotypes that appear in fictional mutations generally go far beyond what is typically seen in mutants in reality,

by the SSI, several different mutations in the spike protein of the virus have been confirmed. The specific mutations include 69–70deltaHV (a deletion

have significantly more muscle mass. Furthermore, individuals who have mutations in both copies of the myostatin gene (popularly called the "Hercules gene")

20A/S:484K, does not carry the same N501Y mutation found in Alpha, Beta and Gamma, but carries the same E484K-mutation as found in the Gamma, Zeta, and Beta

are present. Natural hamster mutations are those that crop up naturally; unlike combination mutations, these are mutations unto themselves and not expressed

speak at a fixed interval above or below unison pitch ("octave pitch" or "mutation pitch"). The pitch of a rank of pipes is denoted by a number on the stop

and mutations may cause defects in the cellular machinery that then contribute to liver disease. By the time accumulating epigenetic and mutational changes

populations. A mutation in the MYBPC3 gene found in Maine Coons has been associated with HCM. Of all the Maine Coons tested for the MyBPC mutation at the Veterinary

Space Quest V: Roger Wilco – The Next Mutation is a graphic adventure game, created by Dynamix, and released by Sierra On-Line for MS-DOS on February 5

and lung cancer. The impact of KRAS mutations is heavily dependent on the order of mutations. Primary KRAS mutations generally lead to a self-limiting hyperplastic

some of the common mutations present in the spike protein of lineage B.1.617. Not all sublineages of B.1.617 share the same mutations: L452R. The substitution

In most "gaited" breeds, an ambling gait is a hereditary trait. This mutation may be a dominant gene, in that even one copy of the mutated allele will

for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene that result in enzymatic deficiency lead to

population size and mutation rate, and fixation probability of a beneficial mutation is inversely related to population size and mutation rate. LaBar and

inherited the Delta 32 mutation, resulting in the genetic deletion of a portion of the CCR5 gene. Homozygous carriers of this mutation are resistant to infection

its lack of fur. Hairlessness in cats is a naturally occurring genetic mutation, and the Sphynx was developed through selective breeding of these animals

Point mutation of residue Tyr289 to Leu, Ile, or Asn eliminates this interaction, enhancing GalNAc transferase activity, with the Y289L mutation showing

should not be confused with the prothrombin G20210A mutation, which is also called the factor II mutation. Prothrombin G20210A is congenital. Prothrombin

intermediate chain dynein, belonging to the large family of motor proteins. Mutations in this gene result in abnormal ciliary ultrastructure and function associated

tumors with any KRAS mutation, which accounts for approximately 25% of mutations in non-small cell lung cancers. KRAS G12C mutations occur in about 13%

Defects in the SMPD1 gene cause Niemann–Pick disease, SMPD1-associated. A mutation from leucine to proline at amino acid residue 302 encoded by the SMPD1

people with certain mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (primarily the G551D mutation), who account for 4–5%

same traits as the "late-onset" form and are not caused by known genetic mutations. Little is understood about how it starts. Nonfamilial early-onset AD

A polymorphic engine (sometimes called mutation engine or mutating engine) is a software component that uses polymorphic code to alter the payload while

whole-exome sequencing, it was discovered that SAMS is the result of a mutation of the GSC gene. The data collected from the whole-exome sequencing, as

inactivating mutations in the ALPL gene likewise have variable degrees of mineralization defects depending on the location of the mutation in the ALPL

(MECD2), which affect the genes KRT3 and KRT12, respectively. A heterozygous mutation in either of these genes will lead to a single phenotype. Many with Meesmann

overexpression or mutations of this protein can lead to cancer. Seminomas, a subtype of testicular germ cell tumors, frequently have activating mutations in exon

factor. Mutations in either gene are links to Waardenburg syndrome. The multigenic disorder, Hirschsprung disease type 2, is due to mutation in endothelin

appeared with two notable mutations: the E484K spike mutation, which may help the virus evade antibodies, and the S477N mutation, which helps the virus bind

themes from the prior soundtrack album Volume Alpha; "Ki", "Moog City 2", "Mutation", and "Beginning 2" are remakes of the songs "Key", "Moog City", "Minecraft"

poisoning, and some autoimmune disorders. Primary erythromelalgia is caused by mutation of the voltage-gated sodium channel α-subunit gene SCN9A. In 2004 erythromelalgia

was not until 1996 that Whitcomb et al isolated the first responsible mutation in the trypsinogen gene (PRSS1) on the long arm of chromosome seven (7q35)

It is also used for the treatment of tumors due to one specific rare mutation: it is specifically intended for adults with unresectable or metastatic

United States and other parts of the world introduced the brachycephalic mutation into the breed, the short nose and clear break became shorter and higher

confirmed that mutations of the POU3F4 gene cause X-linked non-syndromic deafness (DFN-3). These known mutations include: Missense mutation causing the substitution

A voice change or voice mutation, sometimes referred to as a voice break or voice crack, commonly refers to the deepening of the voice of men as they reach

Creating a unified list of computer viruses is challenging due to inconsistent naming conventions. To combat computer viruses and other malicious software

region for mutations affecting filament assembly. Some of these DES mutations cause an aggregation of desmin within the cytoplasm. Some mutations like p.A120D

Under Investigation (VUI-21APR-01) by Public Health England. Amino acid mutations of SARS-CoV-2 Kappa variant plotted on a genome map of SARS-CoV-2 with

caused by a recessive mutation in the keratin 71 gene. The Donskoy's hairlessness, on the other hand, is caused by a dominant mutation. The Donskoy breed

POF revealed one case of heterozygous mutation in the NOBOX homeodomain, p.Arg355His, in one patient. This mutation was absent in the control population

Amino acid mutations of SARS-CoV-2 Beta variant plotted on a genome map of SARS-CoV-2 with a focus on Spike. There are three mutations of particular

an autosomal dominant manner. Some cases of polydactyly are caused by mutations in the ZRS, a genetic enhancer that regulates expression of the sonic

There are also a number of genetic causes of lissencephaly, including mutation of the reelin gene (on chromosome 7), as well as other genes on the X chromosome

Spider-Man's mutation is now permanent. Spider-Man then visits Mister Fantastic for a second opinion. Mister Fantastic also states that the mutation has become

keratin. Keratin 12 is keratin found expressed in corneal epithelia. Mutations in the gene encoding this protein lead to Meesmann corneal dystrophy.

morphological mutation that is Pinot Meunier, and the interesting further mutations of this variety as Pinot Meunier gris and as the non-hairy mutation which

Spider-Man's mutation is now permanent. Spider-Man then visits Mister Fantastic for a second opinion. Mister Fantastic also states that the mutation has become

There are also a number of genetic causes of lissencephaly, including mutation of the reelin gene (on chromosome 7), as well as other genes on the X chromosome

with unusual blue or odd eyes caused by a dominant blue eye (DBE) genetic mutation. The breed came in all coat colors; however, only particolors (bicolors

resistance that emerged. New forms of resistance can arise as: missense mutations within the Abl kinase domain, over-expression of Bcr-Abl, increased production

Bassnectar before dropping Lorin altogether. His second album Motions of Mutation from 2003 and its 2004 successor Diverse Systems of Throb both garnered

X-Men #390 (2001), and in X-Treme X-Men #3 (2001) he experienced a further mutation into a feline being, first shown in the introduction to New X-Men (June

morphological mutation that is Pinot Meunier, and the interesting further mutations of this variety as Pinot Meunier gris and as the non-hairy mutation which

mutation the MDR1 gene causes sensitivity to certain drugs such as ivermectin. This sensitivity has been observed in the Shetland. The MDR1 mutation has

clock. It is an area of ongoing research with one study reporting one mutation per 8000 years. This phylogenetic tree is based Van Oven (2009). In June

is caused by a genetic mutation in one of two genes. Mutation of the DMPK gene causes myotonic dystrophy type 1 (DM1). Mutation of CNBP gene causes type

pinkish-to-reddish-orange flesh. It is believed to have developed as a spontaneous bud mutation on a "standard" Washington navel orange tree. A botanical sport discovered

from the Kyrgyz people of East Kyrgyzstan. There are many downstream mutations of haplogroup R (Semino 2000 and Rosser 2000). Initially, there was debate

skull. The breed originated in Lakewood, California, due to a spontaneous mutation. The first American Curls appeared as strays on the doorstep of the Rugas

cardiac muscle thick filament, and functions in cardiac muscle contraction. Mutations in MYH6 have been associated with late-onset hypertrophic cardiomyopathy

341 mutations in human OTC have been reported. At least 259 of these mutations are considered to be disease-causing mutations. 149 of these mutations are

role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript

The disease has a similar cause to Hirschsprung's disease in humans. A mutation in the middle of the endothelin receptor type B (EDNRB) gene causes lethal

the gut, and (4) D – sensorineural deafness. The syndrome is caused by mutation in the endothelin B receptor gene (EDNRB). In the beginning, medical officials

energy. Mutations in the BCKDHA gene can lead to maple syrup urine disease. Mutations in the BCKDHA gene occur due to single point mutations in the “alpha

death of the organism that carries them. They are usually a result of mutations in genes that are essential for growth or development. Lethal alleles

in dorso-ventral patterning of the vertebrate limb. Loss-of-function mutations in the LMX1B gene are associated with Nail-patella syndrome. GRCh38: Ensembl

requires usually more code, and some operations are not possible (like some mutation operations). The serialized format allows random access to specific data

days. There are three main types of HAE. Types I and II are caused by a mutation in the SERPING1 gene, which encodes the C1 inhibitor protein, and type

heterozygous A4V mutations in SOD1. The mutation is rarely if ever found outside the Americas. It was recently estimated that the A4V mutation occurred 540

growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation

Leishmania HGPRT and validates the result. Mutations in the gene lead to hyperuricemia. At least 67 disease-causing mutations in this gene have been discovered:

believes is the flu and discovers something startling. 28 10 "The Starzl Mutation" Allison Liddi Amy Berg & Craig Sweeny August 6, 2006 (2006-08-06) A former

expression of the gene product, which in turn affects pigmentation. A specific mutation within the HERC2 gene, a gene that regulates OCA2 expression, is partly

is caused by mutations in a sodium channel, SCN4A. The phenotype of patients with these mutations is indicated in Table 1. These mutations affect fast

found largely in the upper spinous layer of epidermal keratinocytes and mutations in the gene encoding this protein have been associated with ichthyosis

Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W (Jan 1998). "Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome"

importance of the skeleton in survival. Few deviations, misregulations, and mutations are found in organisms because they are often detrimental or lethal to

allelic, both caused by mutations in the voltage-gated sodium channel NaV1.7 encoded by the gene SCN9A. A different mutation in the SCN9A ion channel

synthesis during translation. Mutations in MT-TK can result in multiple mitochondrial deficiencies and associated disorders. Mutations in the MT-TK gene are associated

reviews, see Chen et al. (1999) and Baldwin (1996).[supplied by OMIM] Mutation of the NFKB2 gene has been linked to Common variable immunodeficiency (CVID)

2011 Air Band Relentless Software, Good Science Studio August 22, 2011 Mutation Station September 26, 2011 Musical Feet Smoking Gun Interactive October

depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII

congenital disorder characterized by deafness and leucism. It is caused by a mutation in the microphthalmia-associated transcription factor (MITF) gene. Tietz

common mutations of HIV. It has been recompiled in 2008 listing 93 common mutations, after its initial mutation compilation in 2007 of 80 mutations. The

pathway. Mutations in HES7 can result in deformities of the spine, ribs and heart. Spondylocostal dysostosis is a common disease caused by mutations in the

variants could be attributed to the alterations of mTERF binding efficiency. Mutations in MT-TL1 can result in multiple mitochondrial deficiencies and associated

carried a mutation on the gene DMRT3, which controls the spinal neurological circuits related to limb movement and motion. In 2014, that mutation was found

Celtic initial consonant mutations. There is a productive alternation between final syllables and non-final syllables known as mutation or centring (), which

Two No. Title Writer(s) Length 6. "Heads" Brock, Neville-Neil 4:55 7. "Mutation Zone" Bainbridge, Brock 3:57 8. "E.M.C." Bainbridge 4:53 9. "Sword of the

is a subunit of the type IV collagen and plays a role in angiogenesis. Mutations in the gene have been linked to diseases of the brain, muscle, kidney

the phenotype of a mutant and then determining the genetics behind the mutation. Rosbash was elected to the National Academy of Sciences in 2003. Along

brain, and rare mutations in the gene are associated with intellectual disability and epilepsy. analogous to the effect of mutation of the cerebral glucose

syndrome, but the name remains. About two thirds of cases are due to a CHD7 mutation. CHARGE syndrome occurs only in 0.1–1.2 per 10,000 live births; as of 2009

32 of these mutations are considered to be disease-causing mutations. In terms of the molecular basis of HCP and harderoporphyria, mutations of CPOX in

cause muscle damage and weakness, predominantly in the hands and/or feet. Mutation of many different genes can be causative. Many types involve dysferlin

recessive multiple epiphyseal dysplasia Since its first description, over 30 mutations in the SLC26A2 gene have been described in the four recessively inherited

caused by autosomal dominant or recessive and mitochondrial mutations. The location of the mutation also affects the inheritance and treatment of PME. Diagnosing

and rat. The edited adenosine is found in a 6-base pair duplex region. Mutation experiment in the region near the 6-base pair duplex have shown that the

fumarylacetoacetate hydrolase (FAH).  Currently, the mutations reported include silent mutations, amino acid replacements within single base substitutions

involved in clefting that mutations in the MSX1 gene may be associated in the pathogenesis of cleft lip and palate. Mutations in this gene, which was once

caused by autosomal dominant or recessive and mitochondrial mutations. The location of the mutation also affects the inheritance and treatment of PME. Diagnosing

musculoskeletal and genitorourinary symptoms. It is primarily caused by a mutation to the IRF6 gene and follows an autosomal dominant inheritance pattern

recessive multiple epiphyseal dysplasia Since its first description, over 30 mutations in the SLC26A2 gene have been described in the four recessively inherited

mutation. 42% of the cases are caused by EPM2A and 58% are caused by EPM2B (NHLRC1). The most common mutation on the EPM2A gene is the R241X mutation

defect in the microtubules of the Golgi apparatus. In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes

tissue, key to the establishment of the anterior-posterior body axis. Mutations in the HESX1 gene are associated with some cases of septo-optic dysplasia

quality of life in these cats. It is an example of a cat body type genetic mutation. The word is a portmanteau of squirrel and kitten. The term kangaroo cat

have the characteristics of megalencephaly in the general population. A mutation in the PI3K-AKT pathway is believed to be the primary cause of brain proliferation

human blood or face rapid illness followed by death. Initially, Morbius's mutation affects his ability to reason while experiencing hunger. This leads to

and engages in five main areas of research: Cancer, Ageing and Somatic Mutation; Cellular Genetics; Human Genetics; Parasite and Microbes; and the Tree

mutation in hPER2 decreases its phosphorylation by CK1d, which causes the phenotype seen in some FASP. The primary cause of these FASP is a mutation that

disease do not survive to childbirth. Incontinentia pigmenti is caused by a mutation in the IKBKG gene, which encodes the NEMO protein, which serves to protect

is required in a dosage dependent manner. Mice with a homozygous null mutation of the Pitx2 gene showed that it is not required for initial pituitary

2-acetyl-1-pyrroline than usual due to a loss-of-function mutation in the BADH2 gene. The BADH2 mutation can be transferred by conventional breeding; it is a

parathyroid hormone receptor, due to one of three reported mutations (activating mutation). JMC is extremely rare, and as of 2007 there are fewer than

Ehlers–Danlos syndrome, arthrochalasia type: It is caused by mutations in the COL1A1 gene. The mutations in the COL1A1 gene that cause this disorder instruct

⇌ {\displaystyle \rightleftharpoons } coproporphyrinogen III + 4 CO2 Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea

diseases can occur such as neuron degeneration and Alzheimer's disease. Mutations affecting GPI that reduce expression of CD59 and decay-accelerating factor

Brazil. In particular, Zeta only carries the E484K mutation and has neither of the other two mutations of concern, N501Y and K417T. Initial reports claimed

untreated XLA are prone to develop serious and even fatal infections. A mutation occurs at the Bruton's tyrosine kinase (Btk) gene that leads to a severe

phosphorylation proteins. Mutations in MT-TE can result in mitochondrial deficiencies and associated disorders. A mutation in the MT-TE gene has been

by pregnancy. In a family known to harbor the S810L mutation, 3 individuals carrying the mutation died of chronic heart failure before age 50. Additional

by pregnancy. In a family known to harbor the S810L mutation, 3 individuals carrying the mutation died of chronic heart failure before age 50. Additional

Deficiency due to the F135C Human Pit-1 (Pituitary-Specific Factor 1) Gene Mutation: Functional and Structural Correlates". Molecular Endocrinology. 15 (3):

V600E or V600K mutation-positive melanoma. In October 2023, it was approved by the FDA for treatment of NSCLC with a BRAF V600E mutation in combination

known as the purebred long-haired Siamese since it originated as a natural mutation of that breed and hence is essentially the same cat but with a medium-length

Bradley WE, Menke JB, Hao EH, Usala SJ (1992). "An arginine to histidine mutation in codon 315 of the c-erbA beta thyroid hormone receptor in a kindred with

2 is a transcription factor with three tandem C2H2-type zinc fingers. Mutations in this gene are associated with the autosomal dominant Charcot-Marie-Tooth

of the legs and pelvis. It is a type of dystrophinopathy. The cause is mutations and deletions in any of the 79 exons encoding the large dystrophin protein

The dominant type is caused by ectodermal dysplasia as a result of a mutation in the FOXI3 autosomal gene. Dogs with dominant genes for hairlessness

normal lens development. Mutations in the FOXE3 gene are associated with anterior segment mesenchymal dysgenesis. Homozygous mutations in this gene have been

polypeptide at the ribosomal site of protein synthesis during translation. Mutations in MT-TH can result in multiple mitochondrial deficiencies and associated

Brigatinib could overcome resistance to osimertinib conferred by the EGFR C797S mutation if it is combined with an anti-EGFR antibody such as cetuximab or panitumumab

Chinese elm cultivar Ulmus parvifolia 'Blizzard' arose in 2001 from a sport mutation on a tree growing in the Louisville Gardens, Kentucky. It was cloned at

which a person cannot perceive physical pain. CIP is caused by genetic mutations that affect the development or function of nociceptors, the sensory neurons

cause abnormal maternal-Zygote transition and early embryogenesis failure. Mutation of HNF1B that disrupts normal function has been identified as the cause

synaptopathy. There are currently 17 KV1.1 mutations associated with EA1, Table 1 and Figure 1. 15 of these mutations have been at least partly characterized

involved in canonical Wnt pathway. Mutations in LRP5 can lead to considerable changes in bone mass. A loss-of-function mutation causes osteoporosis pseudoglioma

clinical criteria for the disorder, Lindhurst et al. identified an activating mutation in AKT1 kinase in a mosaic state. Previous research had suggested the condition

has removed DNA inserted by HIV from infected cells. Through selective mutation, Cre recombinase which recognizes loxP sites are modified to identify HIV

pruned and their fruit production well managed. Several natural occurring mutations, called sports, of the Cripps Pink cultivar have been discovered and adopted

an activity possibly useful in the management of retinitis pigmentosa. Mutations in the NR2E3 gene have been linked to several inherited retinal diseases

cardiomyoathy (DCM), mutations in the DES gene Arrhythmogenic cardiomyopathy (ACM), mutations in the DES gene Restrictive cardiomyopathy (RCM), mutations in the DES

2016 to treat Hodgkin's lymphoma. The German donor carried the CCR5-Δ32 mutation which gives resistance from HIV infection. It is likely because of his

10%–20% of samples analyzed, a mutation cannot be identified in any of the five genes above, suggesting that mutations in other as-yet unidentified genes

to be ubiquitously expressed in human tissue. It has been shown that a mutation in this enzyme of mice leads to DNA degradation by apoptosis. DNase II

of ≈1.14 g/cm3 it forms virions that are poorly neutralized in vivo The mutation rates in these genomes have been estimated to be between 0.46 × 10−4 and

the first substrate to bind followed by 5,10-CH2-H4folate and ammonia. Mutations in the AMT gene are associated with Glycine encephalopathy, also known

found only in the terminally differentiated epidermis of palms and soles. Mutations in the gene encoding this protein cause epidermolytic palmoplantar keratoderma

dysostosis, CFND) is a very rare X-linked malformation syndrome caused by mutations in the ephrin-B1 gene (EFNB1). Phenotypic expression varies greatly amongst

This mutation changes a single amino acid in the NADH dehydrogenase 6 protein at position 64, from methionine to valine. The T14484C mutation is associated

has shown that a mutation in the EGFR tyrosine kinase domain is responsible for activating anti-apoptotic pathways. These mutations tend to confer increased

clones are not strictly identical since the somatic cells may contain mutations in their nuclear DNA. Additionally, the mitochondria in the cytoplasm

loci, the dog will have a yellow coat. If a dog has a loss-of-function mutation at MC1R, it will also have a yellow coat, regardless of the genotypes at

mitoribosome by filling in the position of a missing 5S mitoribosomal RNA. Mutations in MT-TV which impair oxidate phosphorylation result in mitochondrial

increased risk of uterine leiomyosarcoma. The syndrome is caused by a mutation in the fumarate hydratase gene, which leads to an accumulation of fumarate

subgroup of the myofibrillar myopathy diseases and is the result of a mutation in the gene that codes for desmin which prevents it from forming protein

-ostosis 'condition of the bone') is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. It is also known as PKND

transcripts have been detected for this gene, they are the result of mutations; these mutations alter RNA splicing, often leading to the exclusion of an exon

(2000) suggested 17,000 years ago. Cinnioglu et al. (2004) suggested the mutation took place only 9,500 years ago. Various estimated dates and locations

intermembrane space. A mutation in the PRIMPOL gene has been correlated with myopia. This tyrosine to aspartate (Y89D) mutation has been shown to produce

reports identified three more mutations in TNNT1 gene to cause nemaline myopathies outside the Amish population. A nonsense mutation S108X in exon 9 was identified

encephalomyopathy. A patient with a mutation G12315A was found with encephalomyopathy with ragged-red muscle fibers. A patient with a mutation of A12320G exhibited mitochondrial

with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome". Human Mutation. 19 (5): 573–574

with type II keratin 5 and form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa

While some mutations in CNGA3 result in truncated and, presumably, non-functional channels this is largely not the case. While few mutations have received

formerly thought to be a unique autosomal dominant disorder due to a P63 gene mutation. However, it was recently shown to the same disease as Hay–Wells syndrome

occurring symmetrically on both body sides. This is often a result of a mutation in the HOXD13 gene, as HOXD genes are necessary in early limb bud development

is an inherited genetic syndrome most often caused by an inactivating mutation in the E-cadherin gene (CDH1) located on chromosome 16. Individuals who

Kibar Z, Rouleau G, Berry V, Moore A, et al. (May 1999). "Connexin46 mutations in autosomal dominant congenital cataract". Am J Hum Genet. 64 (5): 1357–64

subcutaneous fat and muscular hypertrophy. Homozygous or compound heterozygous mutations in four genes are associated with the four subtypes of CGL. The condition

inherited purely from the female parent. The most common MELAS mutation is mitochondrial mutation, mtDNA, referred to as m.3243A>G. MELAS is a condition that

residue 29 where S has a methionine and s a threonine. This is due to a mutation at nucleotide 143 (C->T). The S antigen is also known as MNS3 and the s

was found to have a single-base mutation in over 99.5% of cases of familial dysautonomia seen. The single-base mutation, overwhelmingly noted as a transition

21A". Yamada K, Hunter DG, Andrews C, Engle EC (2005). "A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus

Aqua Turquoise mutation Left: Pied mutation Center: Hybrid of peach-face and a fischeri Right: Orange-face mutation Turquoise mutation Green Single Violet

within the same family. Choroideremia is caused by a loss-of-function mutation in the CHM gene which encodes Rab escort protein 1 (REP1), a protein involved

disassembly of the nuclear envelope, which normally occurs early in mitosis. Mutations in the LMNA gene are associated with several diseases, including Emery–Dreifuss

3 beta, is an enzyme that in humans in encoded by the DNMT3B gene. Mutation in this gene are associated with immunodeficiency, centromere instability

majority of mutations causing CMS are found in the AChR subunits genes. Out of all mutations associated with CMS, more than half are mutations in one of

is an inherited genetic syndrome most often caused by an inactivating mutation in the E-cadherin gene (CDH1) located on chromosome 16. Individuals who

accumulating in cold storage after harvest. The blood orange is a natural mutation of the orange, which is itself a hybrid, probably between the pomelo and

nervous system. This gene is involved in CNS and pancreas development. Mutation in the ARX gene are associated with X-linked intellectual disability, lissencephaly

for the treatment of cancers in people whose tumors have an alteration (mutation or fusion) in a specific gene (RET which is short for "rearranged during

children. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. The most common mutation results in

genetic side of the disorder. Some African people carry a unique ferroportin mutation that predisposes them to iron overload, making it a kind of ferroportin

cardiomyopathy may be more rapid in patients with TNNT2 mutations than in those with myosin heavy chain mutations. In patients with active chronic non-inflammatory

Yemenite deaf-blind hypopigmentation syndrome is a condition caused by a mutation on the SRY-related HMG-box gene 10 (not SOX10). It was characterized in

aforementioned mitochondrial genes, including MT-ND1. The m.4171C>A/MT-ND1 mutation also leads to a Leigh-like phenotype as well as bilateral brainstem lesions

frequently, renal cell carcinoma can be caused by this mutation. Paragangliomas related to SDHB mutations have a high rate of malignancy. When malignant, treatment

also recently been designated CD241 (cluster of differentiation 241). Mutations in the RHAG gene can cause stomatocytosis. The Rh blood group antigens

most, if not all, cancers have some mutation in the Ras-Raf-MAPK pathway, most commonly in Ras. These mutations allow the pathway to be constitutively

direct-to-video sequel was released in 1991, entitled Alligator II: The Mutation. Despite the title, Alligator II shared no characters or actors with the

leukaemia with germline CEBPA mutation Myeloid neoplasms with germline DDX41 mutation Myeloid neoplasms with germline RUNX1 mutation Myeloid neoplasms with germline

plaques, and neurosensory deafness.: 483, 513 : 565  It is caused by a mutation in connexin 26. Senter syndrome Ichthyosis hystrix List of cutaneous conditions

red), a lighter coppery base with chocolate brown ticking, is a unique mutation of this original pattern. Other variants have been introduced by outcrossing

capability to fight infections, and it is fatal if untreated. It is cause by a mutation in the ZAP70 gene. Children with this condition typically present with

PMID 2012122. Willems PJ, Seo HC, Coucke P, et al. (1999). "Spectrum of mutations in fucosidosis". Eur. J. Hum. Genet. 7 (1): 60–7. doi:10.1038/sj.ejhg

lamin A, because the latter is a substrate for the former. In humans, a mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid

caused by mutations in the PPOX gene. More than 100 mutations that can cause variegate porphyria have been identified in the PPOX gene. One mutation, a substitution