Rate of mutat mutation. Medical search. Frequent questions

2007 Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. (caspase1inhibitor.com)
Missense variant in a gene that has a low rate of benign missense variation and where missense variants are a common mechanism of disease. (alzforum.org)
This gene in humans contains 6 exons, and various mutations (missense, frameshift, base insertions, base deletions) have been described. (medscape.com)

These sporadic cases may be explained by either incomplete penetrance/expression of GCH1 gene mutations or by de novo mutations or deletions in the gene. (medscape.com)
High-performance liquid chromatography (HPLC) was initially used to identify gene mutations in TILLING populations, but that was costly and time-consuming. (frontiersin.org)

Another research area that interests Dr. Revollo is the direct detection of somatic mutations. (fda.gov)
Somatic mutations are genetic alterations in cells that increase cancer risk. (fda.gov)
Dr. Revollo is developing NGS methods capable of directly and efficiently identifying somatic mutations in the whole genome - in any tissue, and in any species, or any established cell culture - without the need for selecting and expanding cells that have mutations in only a few specific reporter genes. (fda.gov)

According to a report published by the Amala Cancer Research Centre of India in the "Mutation Research" in January 2017, Ganoderma lucidum triterpenes, which can effectively inhibit the survival of cancer cells, can reduce the occurrence and severity of tumors, whether used externally or internally. (ganoherb.com)

Ethyl methane sulfonate (EMS) is a chemical widely used to induce mutations at loci that regulate economically essential traits. (mdpi.com)
Dupuy, B. M., M. Stenersen, T. Egeland, and B. Olaisen, 2004 Y-chromosomal microsatellite mutation prices: differences in mutation rate in between and within loci. (caspase1inhibitor.com)
Targeting Induced Loci Lesions in Genomes (TILLING) is a reverse genetic approach that allows directed identification of mutations in specific genes. (frontiersin.org)
It has also been suggested that genomic instability is the initiating event in colorectal tumorigenesis and, if this is true, mutations of DNA mismatch repair (MMR) genes (or at similar loci) are the most likely candidates. (ox.ac.uk)

Repeat gains were more frequent than losses, longer alleles were found to be more mutable, and the mutation rate seemed to increase with the father's age. (nih.gov)
A Poisson-based modeling revealed that the Y-STR mutation rate increased with increasing father's age on a statistically significant level ( α = 0.0294, 2.5% quantile = 0.0001). (springer.com)

Thirty percent to 40% of patients with DRD do not show the common mutations. (medscape.com)
Patients are usually tested only for deletions and for common mutations of mtDNA which account for 5-40% of cases, depending on the study. (bmj.com)
Methods We analysed the whole mtDNA in a cohort of 743 patients suspected of manifesting a mitochondrial disease, after excluding deletions and common mutations. (bmj.com)

Defects in mismatch repair occur after APC mutations in the pathogenesis of sporadic colorectal tumours. (ox.ac.uk)

Over half of individuals with mutations in the gene did not inherit it from either parent, and thus have a de novo mutation. (wikipedia.org)
We extended the genetic analysis to all family members of the patient (mother, sister and brothers) and none of them had any alteration in the GLA gene, suggesting a de novo mutation in the patient. (biomedcentral.com)
In a family, it is rare to find only one Fabry disease affected subject with a de novo mutation. (biomedcentral.com)
we performed both clinical and molecular diagnosis identifying a de novo mutation. (biomedcentral.com)

Many cases of GCH1 gene mutation negative have been discovered to harbor exon deletions in the GCH gene. (medscape.com)

Results from a National Cancer Institute (NCI) sponsored multi-center study published in the Journal of the American Medical Association on January 25, 2012, provides strong evidence that BRCA1 and BRCA2 gene mutation carriers with ovarian cancer were more likely to survive in the five years following diagnosis than were women with ovarian cancer who do not have mutations in these genes. (cancer.gov)
Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers. (uniklinikum-dresden.de)
We gathered an international series of telomerase mutation carriers who underwent lung transplant in the USA, Australia and Sweden. (ersjournals.com)

Therefore, we investigated the 17 Yfiler Y-STRs in 1,730-1,764 DNA-confirmed father-son pairs per locus and found 84 sequence-confirmed mutations among the 29,792 meiotic transfers covered. (springer.com)
Medians from Bayesian estimation of locus-specific mutation rates ranged from 0.0003 for DYS448 to 0.0074 for DYS458, with a median rate across all 17 Y-STRs of 0.0025. (springer.com)
This mutation, at the Gln 381 Lys locus in the tyrosine gene, results in TH activity that is only 15% of normal,[7] with a resultant decrease in dopamine production. (medscape.com)

Telomerase mutations are the most common identifiable genetic cause of IPF, and at times, the telomere defect manifests in extrapulmonary disease such as bone marrow failure. (ersjournals.com)
Even though IPF remains defined by its idiopathic adjective, its most frequent identifiable genetic cause is inherited mutations in the telomerase genes [ 8 ]. (ersjournals.com)
Loss of function mutations in TERT , the telomerase reverse transcriptase gene, and TR (also known as TERC ), the telomerase RNA, underlie up to 20% and 3% of familial and sporadic pulmonary fibrosis cases, respectively [ 8 ], [ 9 ]. (ersjournals.com)
Mutations in the telomerase accessory component, DKC1 , the dyskeratosis congenita 1 gene, can also manifest as IPF, underscoring the important role of telomere dysfunction in IPF pathogenesis [ 10 ]. (ersjournals.com)
Mutations in telomerase cause its loss of function and mediate disease through abnormally shortened telomeres [ 11 ]. (ersjournals.com)

Located on human chromosome 20, the JAG1 gene is expressed in multiple organ systems in the body and causes the autosomal dominant disorder Alagille syndrome (ALGS) resulting from loss of function mutations within the gene. (wikipedia.org)
Conditional gene knockout mouse models with Jag1 mutations targeted to the portal vein mesenchyme, endothelium, and cranial neural crest all exhibit features classic to those in individuals with ALGS, highlighting the role of this tissue type in disease origins ALGS is an autosomal dominant multi-system disorder affecting several body systems including the liver, heart, skeleton, eye, facial structure, kidneys and vascular system. (wikipedia.org)
10] More than 50% of patients with autosomal-dominant inherited DRD have mutations in the GCH1 gene. (medscape.com)

Microscopically, a large number of plaques were noted in the neocortex (CERAD rating: severe). (alzforum.org)
Congenital bilateral sensorineural hearing loss is seen in almost all cases, most severe in type 2 and type 4 when associated with SOX 10 mutation. (eurorad.org)
however, severe post-transplant complications reflecting the syndromic nature of their disease appear to occur at higher rates. (ersjournals.com)
F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis. (cdc.gov)

Since all mutation types lead to a patient phenotype, it is thought that haploinsufficiency for JAG1 is the likely disease mechanism of action. (wikipedia.org)
Linkage analysis of the co-segregation of the mutation and the disease phenotype revealed a positive logarithm of odds ratio (LOD) score (1.8, θ = 0). (alzforum.org)

About half of cancers sustain mutations in the TP53 gene, whereas the other half maintain a wild-type p53 (wtp53) but may compromise the p53 response because of other alterations. (aacrjournals.org)

TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. (medscape.com)
Results 7.4% of deleterious mutations and 22.4% of novel putative mutations were identified. (bmj.com)

MTND5 and MTND6 genes were identified as 'hotspots' of mutations, with Leigh syndrome accounting for the large majority of associated phenotypes. (bmj.com)
Mutations in four color-related genes were identified using high resolution melting (HRM) curves of their PCR products. (frontiersin.org)

PMID:18786442 mutations and the risk of esophageal squamous cell carcinoma. (who.int)

The frequency of mutation and deletion of specific areas of the mitochondrial genome in tumour and matched normal tissue of patients with HBV infection was investigated in the current study. (nature.com)
These observations suggest that the inflammatory process contributes to the rate of mitochondrial mutations. (nature.com)
We hypothesised that increased oxidative stress associated with HBV infection in individuals with HCC would lead to an increased burden of mitochondrial DNA mutation. (nature.com)
We therefore sequenced a small portion of the hypervariable D-loop region of mitochondria from individuals with HCC in matching tumour and nontumour liver tissue to determine the frequency of mitochondrial mutations. (nature.com)

Patients who are clinically consistent with the disorder usually have a mutation in JAG1 (94%), while a smaller 2% have a mutation in NOTCH2. (wikipedia.org)
SRY mutations have also been found in a small number of patients with a 45,X/46,XY karyotype and might play a role in the maldevelopment of the gonads. (biomedcentral.com)
Usually the patients with SOX 10 mutation present with agenesis/hypoplasia of one or more semi-circular canals, more commonly posterior semicircular canal. (eurorad.org)
The percentage of control subjects harbouring D-loop mutations was 11%, which was significantly lower than that observed in both the noncancerous (49%, P =0.033) and tumour tissue (59%, P =0.014) of patients with HCC. (nature.com)
Point mutation in the gene for SR has been detected in patients who have autosomal-recessive DRD. (medscape.com)
Patients carrying deleterious mutations showed symptoms before 16 years of age in 67% of cases. (bmj.com)
Evaluation of von Willebrand factor phenotypes and genotypes in Hemophilia A patients with and without identified F8 mutations. (cdc.gov)
Mutation analysis of a cohort of US patients with hemophilia B. (cdc.gov)
F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity. (cdc.gov)

Some of these coding region mutation-negative cases may represent autosomal-recessive, TH-deficient DRD, while others are apparently sporadic. (medscape.com)
Although it remains possible that MMR is abnormal in tumours from HNPCC families before APC mutations occur, it is likely that in sporadic colon tumours, APC mutations, rather than genomic instability, are the initiating events in tumorigenesis. (ox.ac.uk)

A few people with Alagille syndrome have mutations in a different gene, called NOTCH2 . (medlineplus.gov)

In more than 90 percent of cases, mutations in the JAG1 gene cause Alagille syndrome. (medlineplus.gov)

To elucidate the mechanisms by which connexin mutations lead to cataracts, we have been studying mouse models that mimic the mutations identified in human pedigrees with inherited congenital cataracts. (molvis.org)

However, the prevalence of rare mtDNA mutations is not known. (bmj.com)

We describe a novel computational method for estimating the probability that a point mutation at each position in a genome will influence fitness. (biorxiv.org)

Mutations in JAG1 were first discovered to be responsible for ALGS by researchers at The Children's Hospital of Philadelphia and the National Institutes of Health in 1997. (wikipedia.org)
Although individuals can have a range of mutation types in JAG1, all of the known mutations lead to loss of the function of one copy, and, there is no correlation between mutation type or location and disease severity. (wikipedia.org)
Though individuals with ALGS have several body systems affected, there is a subset of individuals with JAG1 mutations who present with tetralogy of fallot/pulmonary stenosis that do not show the other clinical signs of the syndrome. (wikipedia.org)
Given the variable expressivity of the disease, there may be other genetic or environmental modifiers present beyond the original JAG1 mutation. (wikipedia.org)

Favorable mutations can be identified by screening a mutagenesis library using high-throughput screening methods. (frontiersin.org)

The scale for the assessment and rating of ataxia and the international cooperative ataxia rating scale were used to evaluate disease severity. (scielo.br)
As such, the mutant gene and mutation type are not the primary mediators of disease severity but the telomere length defect, as previously reviewed [ 11 ]. (ersjournals.com)

structural biology of indel mutations. (caspase1inhibitor.com)

This mutation affects splicing such that exon 8 is more frequently excluded from transcripts. (alzforum.org)

however, they occur at an extremely slow rate. (frontiersin.org)

A collaborative work was carried out by the Spanish and Portuguese ISFG Working Group (GEP-ISFG) to estimate Y-STR mutation rates. (nih.gov)
Current genetic toxicology assays can only estimate somatic-mutation rates by assaying the function of certain gene markers (e.g. (fda.gov)
Negative binomial regression was used to estimate rate ratios and 95 % CI, adjusted for age and occupational and lifestyle factors. (cambridge.org)

Correlation between genotype and residual enzyme activity is not strong, depending on the mutation and additional genetic and non-genetic factors. (biomedcentral.com)

Many computational methods for gaining functional insights from sequence data are based on the simple, but powerful, observation that functionally important nucleotides tend to remain unchanged over evolutionary time, because mutations at these sites generally reduce fitness and are therefore eliminated by natural selection 7 - 15 . (biorxiv.org)
In essence, the "experiment" considered by these methods is the one conducted directly on genomes by nature over millenia, and the outcomes of interest are the presence or absence of fixed mutations. (biorxiv.org)

The Y-chromosomal short tandem repeat (Y-STR) polymorphisms included in the AmpF l STR® Yfiler® polymerase chain reaction amplification kit have become widely used for forensic and evolutionary applications where a reliable knowledge on mutation properties is necessary for correct data interpretation. (springer.com)
In evolutionary anthropological studies, Y-STRs are usually applied to unveil the local and temporal origin of a given Y-SNP based haplogroup, and Y-STR mutation rates are used for time estimations as well as (often) for weighted network constructions [ 2 ]. (springer.com)

By contrast, the frequency of point mutations is less than 2-fold greater. (uchicago.edu)
We observed a significant inverse association between translocation frequency and dietary intake of niacin ( P = 0·02): adjusted rate ratio for subjects in the highest tertile compared with the lowest tertile was 0·58 (95 % CI 0·40, 0·83). (cambridge.org)

A review of the coordinated research effort on the comparison of test systems for the detection of mutagenic effects, sponsored by the E.E.C. Mutat Res 74:77-93. (cdc.gov)
In breast cancer, we are waiting for the results of large basket trials to incorporate the detection of actionable mutations to select targeted treatments, in a similar way to the management of lung cancer. (ecancer.org)

Our finding of three Y-STR mutations in one father-son pair (and two pairs with two mutations each) has consequences for determining the threshold of allelic differences to conclude exclusion constellations in future applications of Y-STRs in paternity testing and pedigree analyses. (springer.com)

This accession is particularly suitable for mutation studies and molecular research due to its compact growth habit and small size. (mdpi.com)

Of these, studying DNA-confirmed father-son pairs is the most reliable approach but only if the number of father-son pairs investigated is large enough to reveal reliable mutation rate estimates. (springer.com)
the average mutation rate estimates were 3,17 10 -3 (95% confidence interval [CI] 1,89 4,94 10 -3 ) across 8 tetranucleotide microsatellites and 2,80 10 -3 (95% CI 1,72 4,27 10 -3 ) across all 15 Y-chromosomal microsatellites studied. (chronologia.org)

EVALUATION FOR ACCEPTABLE DAILY INTAKE BIOCHEMICAL ASPECTS Absorption, Distribution and Excretion In normal, sham-operated and partially hepatectomized male rats, the rate of elimination of a single dose or three daily doses of ( 35 S)-captan, at 6 mg/kg body weight given intraperitoneally, was similar. (inchem.org)
Following incubation with 35 S-captan, the rate of 35 S binding and the percentage of 35 S-labelled gas evolved were slightly higher in isolated liver nuclei from normal rats than from partially hepatectomized rats (Couch et al 1977). (inchem.org)

Several genes are known to cause this syndrome ( PAX3 , MITF , EDN3 , EDNRB, SOX10 ), with PAX3 mutation causing type 1 and 3 WS, MITF mutation causing most of type 2 WS. (eurorad.org)
Sox 10 mutation in type 2 WS is also associated with neurological manifestations like developmental delay, nystagmus, white matter abnormalities or hypomyelination, anosmia due to missing olfactory bulb. (eurorad.org)

A point mutation in the gene for TH has been shown to result in autosomal-recessive DRD. (medscape.com)

These studies have resulted in identifying specific disease-causing mutations and have led to improved clinical and laboratory diagnosis, prenatal diagnosis, and carrier identification. (medscape.com)

In forensics, mutation rates are needed when STRs are applied to paternity testing, and Y-STRs are especially powerful in deficiency cases of disputed paternity involving male offspring where the alleged father is not available for DNA analysis but is replaced by any of his male paternal relatives. (springer.com)
meta-analysis of the HPV test positivity rate. (who.int)

RESULTS: The final measures will include the IgM-PNP-specific RODS and Ataxia Rating Scale (IgM-PNP-ARS). (bvsalud.org)

Proto-oncogenes are regular genes in our bodies that assist regulate cell division, growth, and even death rates. (alliedacademies.org)

Multiple correspondence analyses followed by hierarchical ascendant cluster process were used to explore relationships between clinical spectrum, age at onset and localisation of mutations. (bmj.com)

In approximately 30 to 50 percent of cases, an affected person inherits the mutation or deletion from one affected parent . (medlineplus.gov)
Mutations in this gene are responsible for sex reversal in approximately 10-15% of 46,XY pure gonadal dysgenesis (46,XY DSD) cases. (biomedcentral.com)
Mutations in the SRY gene are known to be involved in 46,XY sex reversal and are found in approximately 15% of 46,XY gonadal dysgenesis cases [ 10 ]. (biomedcentral.com)
Researchers put it together with MCF-7 human breast cancer cells (estrogen-dependent) and found that the higher the concentration of the extract, the longer the time it takes to interact with cancer cells, the more it can reduce the survival rate of cancer cells, and even in some cases, it can make cancer cells disappear completely (as shown below). (ganoherb.com)

Anatomy11

Organisms12

Diseases23

Chemicals and Drugs74

Analytical, Diagnostic and Therapeutic Techniques and Equipment27

Psychiatry and Psychology2

Phenomena and Processes111

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena1

Information Science4

Named Groups3

Health Care6

Missense3

Gene mutations2

Somatic mutations3

20171

Loci4

Father's age2

Common mutations3

Mismatch1

Novo4

Deletions1

Carriers3

Locus3

Telomerase5

Autosomal dominant3

Severe4

Phenotype2

TP531

Putative2

Genes were identified2

PMID1

Mitochondrial4

Patients9

Sporadic2

NOTCH21

Alagille1

Pedigrees1

Prevalence1

Genome1

JAG14

Mutagenesis1

Disease severity2

Structural biology1

Exon1

Occur1

Estimate3

Correlation1

Methods2

Evolutionary2

Frequency2

Detection2

Consequences1

Research1

Estimates2

Rats2

Type2

Point1

Diagnosis1

Analysis2

Specific1

Regulate1

Spectrum1

Cases4