Resistant mutations. Medical search. Frequent questions

Tests of the patients' circulating tumor DNA - genetic material shed by their tumors into the bloodstream - showed that they continued to develop additional mutations in HER2 and some other cancer-related genes, which eventually caused them all to stop responding to treatment. (utsouthwestern.edu)
In the samples from patients who were treated with lenvatinib, the investigators discovered that the number of mutations in the EGFR and ERBB2 genes-as well as the number of copies of the genes present in the cancer cells-tended to increase. (ascopost.com)
In a representation of normal skin, colors indicate the mutated genes and circles reflect the size of skin patches from healthy eyelids carrying the mutation. (sciencenews.org)
The mutations the researchers identified were in genes involved in cell replication, the process by which cells grow and divide. (awebfind.biz)
Mutations in genes can have no effect, alter the product of a gene, or prevent the gene from functioning properly or completely. (wikipedia.org)
Due to the damaging effects that mutations can have on genes, organisms have mechanisms such as DNA repair to prevent or correct mutations by reverting the mutated sequence back to its original state. (wikipedia.org)
Novel genes are produced by several methods, commonly through the duplication and mutation of an ancestral gene, or by recombining parts of different genes to form new combinations with new functions. (wikipedia.org)
Other types of mutation occasionally create new genes from previously noncoding DNA. (wikipedia.org)
Mutations in pfdhfr and pfdhps genes have been shown to associate with sulphadoxine-pyrimethamine (SP) resistance of Plasmodium falciparum parasites. (biomedcentral.com)
However, point mutations in each of the genes, pfdhfr and pfdhps, cause conformational changes in the enzyme structures and result in prevention of adequate drug binding and parasite resistance to SP. (biomedcentral.com)
Mutations in human gonadotropin and gonadotropin-receptor genes. (springer.com)
Mutations in their genes allow some bacteria to survive these antibiotics, and they pass these genes along to their descendants. (healthline.com)
Therefore, several of these internal ids could be associated with a single genomic COSV id where the mutation has been mapped to all overlapping genes and transcripts. (sanger.ac.uk)
Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)
Mutations in genes concerned with production of enzymes for metabolism of tobacco products may lead to increased risk of carcinogenesis with respect to oral mucosa. (bvsalud.org)

About 62.5% of the patients without EGFR or ERBB2 mutations prior to treatment demonstrated tumor shrinkage or stability after starting lenvatinib compared with 20% of those who had EGFR or ERBB2 mutations. (ascopost.com)
Further, those whose tumors had EGFR or ERBB2 mutations had shorter survival times than those whose tumors lacked the mutations. (ascopost.com)
Using a national cohort of 1,616 patients, the investigators were able to estimate that 11% of patients with hepatocellular carcinoma might have EGFR or ERBB2 mutations. (ascopost.com)
The investigators hope that patients with EGFR or ERBB2 mutations could soon be offered alternative or combination treatments. (ascopost.com)
Mutations in epidermal growth factor receptor ( EGFR ), KRAS, and anaplastic lymphoma kinase ( ALK ) are mutually exclusive in patients with NSCLC, and the presence of one mutation in lieu of another can influence response to targeted therapy. (medscape.com)
[ 4 ] Further investigation demonstrated that the highest response rates to these TKIs were seen in patients with somatic mutations within the EGFR-TK domain, particularly exon 19 deletion, exon 21 L858R, and exon 18 G719X. (medscape.com)
In general, activating EGFR mutations are more commonly observed in patients with adenocarcinomas and no prior history of smoking, as well as in females and those of Asian descent. (medscape.com)
[ 7 ] researchers identified EGFR mutations in 50.5% of surgically resected lung adenocarcinomas. (medscape.com)
[ 8 ] These data support estimates from clinical trial evidence that activating EGFR mutations are seen in approximately 50% of Asians and 10% of non-Asians. (medscape.com)
Use of the EGFR-TKIs gefitinib, erlotinib, and afatinib is limited to patients with adenocarcinomas who have known activating EGFR mutations. (medscape.com)
As discussed below, activity of the EGFR monoclonal antibody cetuximab seems to be independent of EGFR mutation status. (medscape.com)
It is unclear how the presence of an acquired EGFR mutation such as T790M should influence therapeutic decisions. (medscape.com)
[ 9 ] Most importantly, patients with KRAS mutations seem to have a poorer prognosis and seem to be resistant to EGFR-TKIs, although the extent to which this might influence treatment selection remains somewhat unclear. (medscape.com)
Because EGFR and ALK mutations are mutually exclusive, patients with ALK rearrangements are not thought to benefit from EGFR-targeting TKIs. (medscape.com)
GILOTRIF is indicated for the first-line treatment of patients with metastatic non-small cell lung cancer (NSCLC) whose tumors have non-resistant epidermal growth factor receptor (EGFR) mutations as detected by an FDA-approved test [see Dosage and Administration (2.1) , Clinical Pharmacology (12.1) , Clinical Studies (14.1) ]. (nih.gov)
In patients whose lung adenocarcinomas harbor epidermal growth factor receptor (EGFR) tyrosine kinase domain mutations, acquired resistance to the tyrosine kinase inhibitors (TKI) gefitinib (Iressa) and erlotinib (Tarceva) has been associated with a second-site EGFR mutation, which leads to substitution of methionine for threonine at position 790 (T790M). (aacrjournals.org)
We aimed to elucidate the frequency and nature of secondary EGFR mutations in patients with acquired resistance to TKI monotherapy. (aacrjournals.org)
Tumor cells from patients with acquired resistance were examined for secondary EGFR kinase domain mutations by molecular analyses. (aacrjournals.org)
Some evidence indicates that the presence of BRAF mutation may render colorectal cancer resistant to epidermal growth factor (EGFR)-inhibitors, such as cetuximab and panitumumab. (medscape.com)

On the basis of these findings, genome-wide EID/article/21/3/14-0898-Techapp1.pdf) during population- analyses of artemisinin-resistant P. falciparum isolates wide cross-sectional malaria surveys conducted in February found strong correlations between a mutant allele in the and August 2012 and August 2013 at the 5 study sites. (cdc.gov)
This study investigated embB mutations among MDR-TB isolates and analyzed their correlations with phenotypic drug susceptibility testing (DST) in Zambia. (hokudai.ac.jp)
Results: Out of 61 phenotypically EMB resistant isolates, 53 had mutations in embB. (hokudai.ac.jp)
Among the 71 EMB susceptible isolates, 47 had embB mutations. (hokudai.ac.jp)
Two novel mutations of pfdhps gene, K540T and I588F, were determined in ten and five isolates, respectively. (biomedcentral.com)
An increase in the number of ciprofloxacin-resistant (CipR)* gonococcal isolates submitted by HSL to CDC for reference characterization in 1999 ( 3 ) prompted CDC and the Hawaii Department of Health (HDH) to initiate an investigation in September 1999. (cdc.gov)
The percentage of isolates resistant to tetracycline, ciprofloxacin, penicillin, or all three antimicrobials, was greater in isolates from MSM than from MSW. (cdc.gov)

Having two copies of the MTHFR gene mutation may raise your risk for certain health conditions, though more research is needed. (healthline.com)
BRAF gene mutation testing has emerged as an important tool for diagnosis, prognosis, treatment, and predicting patient outcome in response to targeted therapy for multiple cancer types. (medscape.com)
The BRAF gene mutation test result is positive (ie, a mutation is present) if V600E is found in the BRAF gene. (medscape.com)
V600E is the most common gene mutation for the BRAF gene and is the most common mutation tested for in clinical laboratories. (medscape.com)

BCR-ABL1 compound mutations can confer high-level resistance to imatinib and other ABL1 tyrosine kinase inhibitors (TKIs). (elsevierpure.com)
The amino acid substitutions at 16, 50, 51, 59, 108 and 164 in PfDHFR are responsible for resistance to pyrimethamine, are predicted stepwise mechanisms of mutations beginning at the codon 108 from serine to asparagine (S108N), and proceeding accumulations of N51I, C59R and I164L mutations confer high-level resistance. (biomedcentral.com)

Whole genome sequencing analysis identified eleven single, unique mutations (four synonymous, six non-synonymous, one intergenic), in addition to drug resistance-conferring mutations, that were fixed in the genomes of six monoresistant strains. (edu.sa)
It is therefore likely to assume that these so-called hitchhiking mutations were co-selected and fixed in multiple daughter strains during antibiotic selection. (edu.sa)
Although vaccination is the best strategy for controlling viral spread, changes in our behavior and mindset will be increasingly required to stay ahead of vaccine-resistant strains, according to the four authors of the report. (medscape.com)
For eight scenarios, rates of infection, recovery, death, vaccination, and mutation and the percentage of individuals with resistant viral strains were factors in the model. (medscape.com)
However, the variability in fitness between strains with different resistance-conferring mutations has been largely ignored when making these predictions. (johnshopkins.edu)
This is how antibiotic-resistant strains of bacteria are formed. (healthline.com)
Despite the MIC decrease (i.e., trend of improved cefixime susceptibility) during 2012-2013, the increase in the number of strains with Cfx-RS in 2014 underscores the potential threat of cephalosporin-resistant N. gonorrhoeae . (cdc.gov)

All patients had biopsies of metastatic lesions with an evaluation for both germline and somatic mutations. (bmj.com)

Although these tumors initially respond to HER2 -inhibiting drugs, studies have shown that they eventually stop responding after new mutations develop. (utsouthwestern.edu)
Seeking a way to slow or stop progression of tumors bearing HER2 mutations, Dr. Arteaga and his colleagues - including Nisha Unni, M.D. , Associate Professor of Internal Medicine , and Ariella Hanker, Ph.D. , Assistant Professor of Internal Medicine, both members of the Simmons Cancer Center - tested various combinations of three different drugs among 71 breast cancer patients being treated at 23 medical centers around the world. (utsouthwestern.edu)
By examining the ctDNA collected prior to treatment and following cancer progression after treatment, the investigators were able to identify differences in the genetic profiles of hepatocellular carcinoma tumors once they were resistant to treatment. (ascopost.com)
NRAS mutations occur in 15-20 percent of melanomas, and the MEK/CDK4 combination is often effective initially against these tumors, but resistance arises. (newswise.com)

We took the classical model used to study epidemiology of pandemics, the SIR [susceptible, infected, recovered] model, and we modified it to study the dynamics of rare mutations associated with emergence of a vaccine-resistant strain," Simon A. Rella, the lead author of the study and a PhD student at IST, explained at the briefing. (medscape.com)
This finding helps establish that such pre-existing mutations can lurk in a patient's tumor at 10 times the rarity than previously appreciated and still cause rapid drug resistance, raising the possibility that even more rare mutations exist in other patients, below the detection rate of current technology. (newswise.com)
Understanding the difference could guide treatment to make it more effective, earlier, Kwong notes, and identifying rare mutations that are geographically isolated on a tumor will require improving our approach to analyzing biopsies. (newswise.com)

The previously reported pathogenic mutation in NLRP1 in humans, and the missense mutation we inserted into the BALB/c mice in this study. (frontiersin.org)

JOA displayed the activity of inhibiting the BCR-ABL and promoted differentiation of not only imatinib -sensitive but also imatinib -resistant cells with BCR-ABL mutation, which could become a potent lead compound to overcome the imatinib -resistant induced by inhibitors of BCR-ABL tyrosine kinase in CML therapy. (jcancer.org)
To determine the frequency of compound mutations among chronic myeloid leukemia patients on ABL1 TKI therapy, in the present study, we examined a collection of patient samples (No 47) with clear evidence of 2 BCR-ABL1 kinase domain mutations by direct sequencing. (elsevierpure.com)
The frequency of clones harboring compound mutations with more than 2 missense mutations was low (10%), whereas the likelihood of silent mutations increased disproportionately with the total number of mutations per clone, suggesting a limited tolerance for BCR-ABL1 kinase domain missense mutations. (elsevierpure.com)
We conclude that compound mutations are common in patients with sequencing evidence for 2 BCR-ABL1 mutations and frequently reflect a highly complex clonal network, the evolution of which may be limited by the negative impact of missense mutations on kinase function. (elsevierpure.com)
Rearranged during transfection (RET), kinase alterations, which include fusions and activating point mutation, lead to overactive RET signaling and uncontrolled cell growth. (medscape.com)

Olaparib, a poly (ADP-ribose) polymerase inhibitor, has demonstrated an improvement in median progression-free survival (PFS) in select patients with metastatic castration-resistant prostate cancer (mCRPC). (bmj.com)
People with metastatic castration resistant prostate cancer who have an inherited or tumor mutation in BRCA2. (facingourrisk.org)
This study looked at the benefit of using the PARP inhibitor niraparib to treat metastatic castration-resistant prostate cancer (mCRPC). (facingourrisk.org)

Deeper understanding of the pathobiology of non-small cell lung cancer (NSCLC) has led to the development of small molecules that target genetic mutations known to play critical roles in the progression to metastatic disease. (medscape.com)
[ 9 , 10 ] KRAS G12C accounts for approximately 50% of KRAS mutations in NSCLC, and approximately 14% of patients with NSCLC have a KRAS G12C mutation. (medscape.com)

We employed longitudinal whole-exome sequencing on 2 patients whose disease progressed on pirtobrutinib and identified selection of alternative-site BTK mutations, providing clinical evidence that secondary BTK mutations lead to resistance to noncovalent BTKis. (lu.se)
Using a cloning and sequencing method, we found that 70% (33/47) of double mutations detected by direct sequencing were compound mutations. (elsevierpure.com)
In addition, our approach revealed individual and compound mutations not detectable by direct sequencing. (elsevierpure.com)
Whole exome sequencing of the resistant tumor after treatment revealed a mutation to PIK3CA known to promote tumor growth. (newswise.com)
Preliminary tests, such as BRAF mutation testing, may be useful in determining which patients are likely to benefit from full gene sequencing. (medscape.com)
[ 9 ] Thus, persons with colorectal cancers with the BRAF mutation may be unlikely to have HNPCC, and further testing with full gene sequencing is probably unwarranted. (medscape.com)

Researchers had previously thought that the types of mutations that fuel tumor growth were rare and happened just before a cell becomes cancerous. (sciencenews.org)

Researchers found that resistant starch can reduce the risk of non-colorectal cancers but not colorectal cancer. (facingourrisk.org)
52 (11%) participants were diagnosed with colorectal cancer in the resistant starch group. (facingourrisk.org)
27 (6%) participants were diagnosed with non-colorectal cancer in the resistant starch group. (facingourrisk.org)
BRAF mutation testing will likely be increasingly used in the management of colorectal cancer, as more evidence emerges regarding its usefulness. (medscape.com)
[ 4 , 5 ] Some indication exists that BRAF mutation testing may be used to evaluate the likelihood of having hereditary nonpolyposis colorectal carcinoma (HNPCC) or Lynch syndrome versus sporadic colorectal cancer. (medscape.com)

A model investigating 26 possible malaria treatment policy intervention scenarios showed that introducing multiple first-line antimalarial therapies is the most effective single policy change in slowing the spread of artemisinin-resistant pfkelch R561H mutations in Rwanda over 5 years. (nature.com)

Pirtobrutinib is a highly selective, noncovalent BTKi with substantial clinical activity in patients whose disease has progressed on covalent BTKi, regardless of BTK mutation status. (lu.se)
But a study of the eyelids of four people who don't have cancer reveals that such mutations "are staggeringly common in normal skin," says Philip Jones, a clinical scientist at the University of Cambridge. (sciencenews.org)
Finally, it seems appropriate to consider the "sodium channel syndrome" (mutations in the gene of the α subunit of the sodium channel, SCN5A gene) as a single clinical entity that may manifest in a wide range of phenotypes, to thus have a better insight on these cardiac syndromes and potential outcomes for their clinical treatment. (bvsalud.org)

Right now, when we detect a resistance mutation after treatment, we often don't know whether it came out of nowhere as a new mutation or was pre-existing but undetected in the original tumor," Kwong said. (newswise.com)

The most common resistance mechanism in patients whose disease progresses on covalent BTK inhibitors (BTKis) is a mutation in the BTK 481 cysteine residue to which the inhibitors bind covalently. (lu.se)
Data from other trials suggest there may be improved activity in men with DNA damage repair (DDR) mutations treated with checkpoint inhibitors. (bmj.com)
The team, led by Lawrence Kwong , Ph.D., assistant professor of Translational Molecular Pathology , set out to find resistance mechanisms that arise against a combination of MEK and CDK4 inhibitors to treat melanoma that has a mutation in the NRAS gene. (newswise.com)
We are able to say that this mutation started out rare and then rapidly expanded as the MEK/CDK4 inhibitors killed off a large number of non-resistant cells. (newswise.com)

The A581G mutation was associated with ≥ 3 SP doses evident only among sub-microscopic parasitaemia (P = 0.027) and multigravidae (P = 0.009). (bvsalud.org)

The parasites acquiring five mutations in pfdhfr / pfdhps haplotypes and four mutations with additional I588F did not respond adequately to SP treatment. (biomedcentral.com)

Scholars@Duke publication: Molecular cloning of a cDNA of a camptothecin-resistant human DNA topoisomerase I and identification of mutation sites. (duke.edu)
One of the main questions in cancer drug resistance is how often it comes from a pre-existing or a completely new mutation" said Gabriele Romano, Ph.D., a postdoctoral fellow in Translational Molecular Pathology and the study's first author. (newswise.com)

However, in cases where a person holds two copies of the C677T mutation or one copy of each mutation, they may be at risk of high homocysteine (an amino acid) levels, which may affect the body's function. (healthline.com)
A 2007 study on genetic variations between different species of Drosophila suggested that, if a mutation changes a protein produced by a gene, the result is likely to be harmful, with an estimated 70% of amino acid polymorphisms that have damaging effects, and the remainder being either neutral or marginally beneficial. (wikipedia.org)
Figure 1 Homology in domain structures and amino acid sequences between human and mouse NLRP1 and the present knock-in mutation. (frontiersin.org)
It describes the source of the mutation i.e gene name/sample name/tissue name with unique ID, and also shows the mutation syntax at the amino acid and nucleotide sequence level. (sanger.ac.uk)

The findings, published in Annals of Oncology , suggest a new strategy for a difficult-to-treat form of breast cancer that has become resistant to other treatments and currently has no curative options. (utsouthwestern.edu)
Research has found that close to 10% of patients with metastatic breast cancer harbor cancer-promoting HER2 mutations. (utsouthwestern.edu)
Based in part on these results, the researchers are planning a first-in-class multi-institutional neoadjuvant trial of neratinib and the aromatase inhibitor letrozole in patients with newly diagnosed invasive lobular breast cancer harboring HER2 mutations. (utsouthwestern.edu)
EYE-OPENER Normal skin is a patchwork of cells, many of which carry cancer-driving mutations, a new study finds. (sciencenews.org)
By late middle age, about a quarter of skin cells carry cancer-driving mutations caused by exposure to sunlight - and it's perfectly normal. (sciencenews.org)
A study led by researchers at Sanford Burnham Prebys has found that in young women, certain genetic mutations are associated with treatment-resistant breast cancer. (awebfind.biz)
These mutations are not linked to treatment-resistant breast cancer in older women. (awebfind.biz)
It revealed that in ER+/HER2- breast cancer patients, certain gene mutations had a strong correlation with response to treatment-;and the effects were dependent on age. (awebfind.biz)
Some gene mutations were only linked with treatment-resistant breast cancer in younger women. (awebfind.biz)
Cell cycle dysregulation occurs so early in the development of cancer that we generally don't consider whether the individual mutations that cause cell cycle dysregulation can affect cancer's eventual response to treatment or its ability to spread,' says Haricharan. (awebfind.biz)
To begin to test this idea, the researchers analyzed the effect of cell cycle mutations on patient outcomes in other types of cancer. (awebfind.biz)
Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. (wikipedia.org)
People at increased risk for pancreatic cancer because of family history or an inherited mutation. (facingourrisk.org)
A research study has shown that screening for pancreatic cancer in people with an inherited mutation or family history was able to detect early-stage pancreatic cancers and improve survival. (facingourrisk.org)
Environmental carcinogens and certain other endogenous factor (genetic alteration and mutation) interacting in a complex manner can give rise to development of cancer. (bvsalud.org)

A 59-year-old woman with stage III malignant melanoma was found to have an NRAS mutation in her tumor. (newswise.com)
It has marked antitumor effects against melanoma cell lines with the BRAF V600E mutation but not against cells with wild-type (non-mutated) BRAF . (medscape.com)
Evidence exists that vemurafenib improves overall and progression-free survival in patients with advanced melanoma with the V600E mutation. (medscape.com)
[ 2 ] Thus, establishing whether BRAF mutations exist in melanoma is now of critical therapeutic importance. (medscape.com)

cDNA clones of topoisomerase I were isolated from the CPT-resistant and the parental CPT-sensitive cell lines, respectively. (duke.edu)

Scientists have found that genetic mutations in MRSA allow it to evolve and become more resistant to antibiotics such as penicillin. (disease.nz)
How Do Bacteria Become Resistant to Antibiotics? (healthline.com)
How did MRSA become resistant to antibiotics? (healthline.com)
Methicillin-resistant Staphylococcus aureus (MRSA) is an infection with staphylococcus bacteria, commonly known as a staph infection, that can't be treated with many common antibiotics. (healthline.com)
This is likely what drove the genetic mutations that make MRSA so resistant to antibiotics. (healthline.com)
Fortunately, in the past five years, researchers discovered they can resensitize both persistent and resistant bugs to antibiotics. (discovermagazine.com)
The latter survive because they have genetic mutations that protect them from antibiotics. (livescience.com)

A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency. (lu.se)
Factor V Leiden mutation is more resistant to activated protein C and therefore takes longer to switch off clotting. (medscape.com)

However, the researchers say, as more therapies that target specific mutations are developed, it may be possible to treat new mutations as they arise, further extending patients' survival. (utsouthwestern.edu)
Participants with an inherited or tumor mutation in BRCA1 or BRCA2 had better survival compared to those without a BRCA mutation. (facingourrisk.org)

propeller mutations of P. falciparum parasites from west- ern Kenya. (cdc.gov)
Analysis of parasites from several Cambo- and P. falciparum DNA was detected by a mitochondrial dian provinces indicated that K13 propeller mutations are DNA-based PCR ( 13 ). (cdc.gov)
The occurrence of sub-microscopic P. falciparum parasites resistant to SP and intense malaria transmission poses persistent risk of malaria infection during pregnancy in the area. (bvsalud.org)

We used this approach to describe the effects of realistic fitness cost distributions on the future prevalence of drug-resistant tuberculosis. (johnshopkins.edu)
For example, compared to simulations in which the fitness cost of resistance was fixed, introducing a realistic amount of variance resulted in a 40% increase in prevalence of drug-resistant tuberculosis after 20 years. (johnshopkins.edu)
Conway GS, Conway E, Walker C, Hoppner W, Gromoll J, Simoni M. Mutation screening and isoform prevalence of the follicle stimulating hormone receptor gene in women with premature ovarian failure, resistant ovary syndrome and polycystic ovary syndrome. (springer.com)

All of the patients were positive for mutations in their HER2 gene as well as hormone receptors, cell-surface proteins that can fuel cell growth and often occur in conjunction with HER2 overactivity. (utsouthwestern.edu)

Background: Ethambutol (EMB) is an important anti-tuberculosis drug used in the management of multi-drug resistant tuberculosis (MDR-TB). (hokudai.ac.jp)

Using in vitro ibrutinib-resistant models and cells from patients with CLL, we show that pirtobrutinib potently inhibits BTK-mediated functions including B-cell receptor. (lu.se)
Using in vitro ibrutinib-resistant models and cells from patients with CLL, we show that pirtobrutinib potently inhibits BTK-mediated functions including B-cell receptor (BCR) signaling, cell viability, and CCL3/CCL4 chemokine production in both BTK wild-type and C481S mutant CLL cells. (lu.se)
Galvão A, Segers I, Smitz J, Tournaye H, De Vos M. In vitro maturation (IVM) of oocytes in patients with resistant ovary syndrome and in patients with repeated deficient oocyte maturation. (springer.com)

It is well established that the expected future trend in resistance depends on the reproductive fitness of drug-resistant Mycobacterium tuberculosis. (johnshopkins.edu)

Sub-microscopic Plasmodium falciparum parasitaemia, dihydropteroate synthase (dhps) resistance mutations to sulfadoxine-pyrimethamine, transmission intensity and risk of malaria infection in pregnancy in Mount Cameroon Region. (bvsalud.org)

These mutations are often called variants. (healthline.com)
There are two variants, or forms, of mutations that can occur on the MTHFR gene. (healthline.com)
The risk is possibly increased if a person has two gene variants or is homozygous for the MTHFR mutation. (healthline.com)
In the titer reduction assay, the EE variants (VP1-98E,145E) of RG/EV71-B5 and RG/EV71-C4 were slightly sensitive to E122, E123, and E151 but resistant to E129. (lgyeas.org)
The KE variants were only slightly sensitive to E151 and resistant to E122 and E123. (lgyeas.org)

While, as expected, lower average fitness costs of drug resistance-conferring mutations were associated with more severe epidemics of drug-resistant tuberculosis, fitness distributions with greater variance also led to higher levels of drug resistance. (johnshopkins.edu)
The differences in the fitness costs associated with drug resistance-conferring mutations are a key determinant of the future burden of drug-resistant tuberculosis. (johnshopkins.edu)
Therefore, since it is a global public health problem involving several sectors, it also requires a global solution in the context of the One Health approach to achieve adequate control through the prevention, reduction, and mitigation of drug-resistant infections. (who.int)
Rates of antimicrobial resistance (AMR) are increasing, as are rates of multidrug-resistant (MDR) and possible extensively drug-resistant (XDR) infections. (who.int)

Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. (wikipedia.org)

Mutations can also occur in non-genic regions. (wikipedia.org)

[ 6 ] Approximately 91% of sporadic colorectal cancers harbor BRAF mutation, whereas BRAF is almost never mutated in colorectal cancers that arise as a consequence of Lynch syndrome. (medscape.com)

How long does it take for bacteria to become resistant? (healthline.com)
He called them persisters - different from genetically resistant bacteria that mutate to survive antibiotic treatment. (discovermagazine.com)
Bacterial persisters are not the same as antibiotic-resistant bacteria . (livescience.com)

In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. (wikipedia.org)

This report summarizes investigations of an increase in fluoroquinolone-resistant Neisseria gonorrhoeae in Hawaii and of a cluster of N. gonorrhoeae infections with decreased susceptibility to azithromycin in Missouri. (cdc.gov)

In part based on the new findings, the investigators concluded that the University of Texas Southwestern Medical Center now routinely analyzes for genetic mutations present in patients with hepatocellular carcinomas-a practice not conducted for hepatic cancers at most hospitals. (ascopost.com)
This study looked at whether a type of nutrient known as resistant starch could lower the risk of cancers in people with Lynch Syndrome. (facingourrisk.org)
5 (1%) participants were diagnosed with cancers of the upper GI tract in the resistant starch group. (facingourrisk.org)

In addition, annotations are classified as classical genetics or high-throughput (e.g., large scale survey, systematic mutation set). (yeastgenome.org)

This study assessed the occurrence of microscopic and sub-microscopic P. falciparum parasitaemia, dihydropteroate synthase mutations associated with resistance to SP and maternal anaemia in the Mount Cameroon area. (bvsalud.org)

This trial evaluated durvalumab and olaparib in patients with mCRPC with and without somatic or germline DDR mutations. (bmj.com)

Here, we determined the effect of Jiyuan oridonin A (JOA), an ent -kaurene diterpenoid compound, on the differentiation blockade in imatinib-sensitive, particularly, imatinib-resistant CML cells with BCR-ABL-T315I mutation by cell proliferation assay, apoptosis analysis, cell differentiation analysis, cell cycle analysis and colony formation assay. (jcancer.org)
Sequential, branching, and parallel routes to compound mutations were common. (elsevierpure.com)

The Centers for Disease Control and Prevention (CDC) estimates that about 2.8 million people develop antibiotic-resistant infections each year, resulting in more than 35,000 deaths. (healthline.com)

Evaluation of quinolone resistance-determining region mutations and efflux pump expression in Neisseria meninigitidis resistant to fluoroquinolones. (jmilabs.com)

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