Mutation or marker. Medical search. Frequent questions

Eight dyskeratosis congenita genes ( DKC1 (dyskeratosis congenita 1), TERC (telomerase RNA component), TERT (telomerase reverse transcriptase), NOP10 (nucleolar protein 10), NHP2 , TINF2 (TERF1-interacting nuclear factor 2), TCAB1 and RTEL1 (regulation of telomere elongation helicase 1)) have already been identified, and their mutations account for ∼60% of all dyskeratosis congenita cases [ 1 ]. (ersjournals.com)
Among the dyskeratosis congenita genes, mutations in TERC , TERT and DKC1 have recently been reported to be associated with familial pulmonary fibrosis and idiopathic pulmonary fibrosis, and pulmonary fibrosis is recognised as one of the features of dyskeratosis congenita. (ersjournals.com)
However, the relationship between mutations in the other dyskeratosis congenita genes and pulmonary fibrosis has not yet been clarified. (ersjournals.com)
In this study, by targeted next-generation sequencing of 414 known deafness genes, we identified compound heterozygous mutations p.R34X/p.M413T in TMC1 and p.S3417del/p.R1407T in MYO15A in two recessive Chinese Han deaf families. (hindawi.com)
Using targeted next-generation sequencing of 414 known deafness genes, we identified compound heterozygous mutations in TMC1 and MYO15A as the genetic causes of the hearing loss in those families. (hindawi.com)
RNA sequencing revealed the upregulation of inflammasome pathway-related genes, keratinocyte stress marker genes, and keratinocyte differentiation marker genes in the Nlrp1b KI mice after UVB irradiation. (frontiersin.org)
Some of those markers, especially the hundreds in gene testing, not all of them can lead to a clinical decision because we're still in the phase of understanding the interactions of different genes. (cancer.net)
Our data indicate, for the first time, a requirement for MAPK signaling in the developing XY gonad in order to facilitate normal expression of SRY and the downstream testis-determining genes and also suggest that reduced dosage of MAP3K4 may be the cause of a previously described autosomal sex-reversing mutation in the mouse. (plos.org)
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)
Whithout mutations we would know very little about inheritance and the existence of genes. (intechopen.com)
Subsequently good candidate genes were screened for mutations by direct sequencing. (molvis.org)
The studies presented in this review attempt to describe the operative properties of the genes involved in generation of early and late onset of Parkinson's disease or Parkinson-like disorders and how mutation in these genes relate to onset of manganism. (cdc.gov)
Since mutations in these genes and excess Mn potentially disrupt similar cellular processes within the basal ganglia, it is reasonable to hypothesize that the expressed symptoms of Parkinson's disease may overlap with that of manganese (Mn) toxicity. (cdc.gov)
1) disruption of mitochondrial function leading to oxidative stress, (2) abnormalities in vesicle processing, (3) altered proteasomal and lysosomal protein degradation, and (4) a-synuclein aggregation The mutual neurotoxic processes provoked by mutations in these genes in concert with the biological disturbances produced by Mn, most likely, act in synchrony to contribute to the severity, characteristics and onset of both disorders. (cdc.gov)
Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)
data are preliminary and based on broth microdilution susceptibility testing and/or presence of resistance genes and mutations found in whole genome sequences of bacterial DNA. (cdc.gov)

At least three PRPS1 gene mutations have been identified in people with Arts syndrome, a disorder that causes serious neurological problems in males. (medlineplus.gov)
The PRPS1 gene mutations that cause Arts syndrome change single protein building blocks (amino acids) in the PRPP synthetase 1 enzyme. (medlineplus.gov)
It is unclear how the PRPS1 gene mutations that cause the severe form of PRS superactivity are related to these neurological problems. (medlineplus.gov)
Recently, the identification of recurrent gene mutations in AML has helped refine AML prognostication, especially for patients with intermediate-risk disease. (ascopost.com)
The iron status in these subjects was studied and correlated with the HFE gene mutations. (who.int)
Our study has shown that the HFE gene mutations are common in Egypt among -thalassaemia carriers compared with normal controls. (who.int)

Current genetic toxicology assays can only estimate somatic-mutation rates by assaying the function of certain gene markers (e.g. (fda.gov)

This has led to the question of whether EGFR remains a viable target in patients other than those whose tumors contain mutations, and whether the modest activity of cetuximab in colorectal cancer and head and neck cancer represents all that we can expect from inhibition of this pathway in the absence of mutation. (aacrjournals.org)
The flow cytometry-based Pig-a assay detects cells deficient in Glycosylphosphatidylinositol (or GPI)-anchored surface markers and provides a rapid and cost-effective enumeration of cells that are presumed to contain mutations in the endogenous X-linked Pig-a gene. (fda.gov)

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)

Relationships of BRAF V600E Gene Mutation With Some Immunohistochemical Markers and Recurrence Rate in Patients With Thyroid Carcinoma. (bvsalud.org)
The B-type rafkinase (BRAF) V600E gene mutation plays an important role in the pathogenesis , diagnosis , and prognosis of thyroid carcinoma . (bvsalud.org)
This study was conducted to investigate the rate of the BRAF V600E mutation , the relationships between the BRAF V600E gene mutation and some immunohistochemical markers, and recurrence rate in patients with differentiated thyroid cancer . (bvsalud.org)
All patients were identified with the BRAF V600E gene mutation by real-time polymerase chain reaction . (bvsalud.org)
The recurrence rate in patients with BRAF V600E gene mutation was significantly higher than that in those without the mutation (P = .007). (bvsalud.org)
The mean of the recurrence time of patients with BRAF V600E mutation was significantly lower than that in those without the mutation (P = .011). (bvsalud.org)
A high prevalence of BRAF V600E gene mutation was found in thyroid carcinoma patients . (bvsalud.org)
The rates of positive HBME-1, COX-2, and Ki67 markers were significantly correlated to BRAF V600E gene mutation . (bvsalud.org)
Patients with BRAF V600E gene mutation showed a significantly higher relapse rate and earlier relapse time than those without the mutation . (bvsalud.org)
In contrast, the BRAF V600E mutation did not have any impact on the first-line standard chemotherapy response. (medscape.com)
A combination of encorafenib , cetuximab, and binimetinib has been shown to increase overall survival compared to standard therapy in patients with metastatic colorectal cancer with the BRAF V600E mutation. (medscape.com)
PCR amplification and DNA sequence analysis or allele-specific PCR for BRAF V600E mutation status are performed on formalin-fixed, paraffin-embedded tissue from the primary tumor or a metastasis. (medscape.com)

FGFR3 mutation in the primary tumor was not a significant prognostic indicator for recurrence, while the proportion of FGFR3 mutation (i.e. tumor cellularity was ≥11%) in the preoperative urine sediments was a significant indicator for recurrence in patients with FGFR3 mutations in the primary tumors. (elsevierpure.com)
Urine cytology was negative in all cases with FGFR3 mutations in the primary tumors, while the sensitivity of cytological examination was as high as 56% (5/9) in cases showing wild-type FGFR3 in the primary tumors. (elsevierpure.com)
When patients whose tumors bear the sensitizing mutations are treated with the tyrosine kinase inhibitors gefitinib or erlotinib, we witness response rates and durations never before reported, including complete responses. (aacrjournals.org)
Frequency of mutations in PIK3CA gene is higher in tumors without lymph node metastasis, than those with in gastric cancer. (sigmaaldrich.com)
Cancer treatments that increase risk for secondary tumors typically do so by creating and/or selecting for mutations that cause uncontrolled growth in other tissues. (eurekalert.org)
Expression of p63 is almost exclusively restricted to epithelial cells, mutations in this gene are infrequent, and its expression is increased in a variety of solid tumors, particularly those of the head and neck area 12,13 . (bvsalud.org)

The availability of an unassailable predictive biomarker for treatment of colorectal cancer patients with Vectibix and Erbitux has made testing for a specific gene mutation a treatment prerequisite. (genengnews.com)
Perivascular heterogeneity in clinical samples, and associations with other tumor features and outcome, remain largely unknown.Here we report a novel method for digital quantitative analyses of vessel characteristics and PC, which was applied to two collections of human metastatic colorectal cancer (mCRC).Initial analyses identified marker-defined subsets of PC, including cells expressing PDGFR-β or α-SMA or both markers. (lu.se)

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)
From 5 representative F. F. tularensis is included among the top 6 "category A" po- tularensis genome sequences, 38 indel markers with ca- tential bioterrorism agents believed to have the greatest po- nonical properties, i.e., capable of sorting strains into ma- jor genetic groups, were selected. (cdc.gov)
In genome-wide association studies (GWAS) genetic loci that influence complex traits are localized by inspecting associations between genotypes of genetic markers and the values of the trait of interest. (lu.se)

Glial fibrillary acidic protein-a marker of astrogliosis-also recently emerged as a promising CSF biomarker, at least among GRN mutation carriers. (alzforum.org)
Van Swieten noted that these biomarker discoveries rest squarely on the shoulders of a small number of initially presymptomatic mutation carriers who develop symptoms while being tracked. (alzforum.org)
To span the spectrum, it incorporates biomarker measurements from mutation carriers across FTLD, rather than relying on individual longitudinal data. (alzforum.org)
In this podcast, members of the Cancer.Net Editorial Board discuss new research in molecular testing, also known as biomarker testing or tumor marker testing, to help guide treatment for people with early-stage non-small cell lung cancer. (cancer.net)
Specifically, KRAS mutations serve as a biomarker for lack of response to anti-EGFR treatment. (genengnews.com)

Patients with metastatic CRC who are being considered for anti-EGFR antibody therapy should be tested for the presence of a KRAS mutation prior to therapy. (medscape.com)
It is unclear to what extent the lack of response in KRAS wild-type CRC is due to BRAF mutations, but data suggest that mutated BRAF confers resistance to anti-EGFR therapy given beyond first-line treatment. (medscape.com)
[ 6 , 7 ] However, the role of KRAS and BRAF mutations in CRC survival and response to standard chemotherapy regimens remains inconclusive. (medscape.com)
An evaluation of 561 patients with metastatic CRC reported patients with KRAS mutations had a poor response to first-line standard chemotherapy. (medscape.com)
The therascreen KRAS RGQ (Rotor-Gene Q) PCR (polymerase chain reaction) Kit tests for 7 mutations in codons 12 or 13 of the KRAS gene on formalin-fixed, paraffin-embedded tissue from the primary tumor or a metastasis. (medscape.com)
To be sure, there is no convincing evidence suggesting that KRAS mutations are independent prognostic factors for CRC. (genengnews.com)
But KRAS mutation status has been established as a predictive marker for treatment with EGFR inhibitors. (genengnews.com)
Vectibix' approval in mCRC was based in no small part on retrospective analysis of clinical trial data indicating that only patients with the wild-type KRAS gene, that is, without mutations in the gene, could respond to Vectibix. (genengnews.com)
Originally designed to compare the treatment effect in the overall patient population, the study was amended to analyze outcomes with respect to the presence or absence of activating mutations in KRAS in the tumor itself. (genengnews.com)

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)
Of the patients exposed to HAART for at least 6 months and who experienced viral rebound, information was available on resistance for 26 (21.5% of the total deaths) and 19 of those tested had at least one resistance mutation (median 5, range, 1-16). (nih.gov)
A sensitive and quantitative assay using peptide nucleic acid-mediated real-time PCR was developed for detecting FGFR3 mutations in the urine samples and evaluated as a molecular marker for detecting intravesical recurrence of NMIBC in patients undergoing transurethral resection of bladder tumor. (elsevierpure.com)
FGFR3 mutation was examined in tumor tissues and serially taken pre- and postoperative urine sediments in 45 NMIBC patients with a median follow up of 32 months. (elsevierpure.com)
Mutations within the X linked MECP2 gene have been identified in patients with Rett syndrome (RTT), a neurodevelopmental disorder which affects females almost exclusively and which shares phenotypic overlap with AS. (bmj.com)
A panel of 25 female and 22 male patients with a clinical diagnosis of AS and no molecular abnormality of 15q11-13 were screened for MECP2 mutations and these were identified in four females and one male. (bmj.com)
These findings illustrate the phenotypic overlap between the two conditions and suggest that screening for MECP2 mutations should be considered in AS patients without a demonstrable molecular or cytogenetic abnormality of 15q11-13. (bmj.com)
Finally, around 5% of patients have loss of function mutations in the UBE3A gene, a gene encoding E6-AP, a ubiquitin protein ligase. (bmj.com)
Thus, it might be essential to evaluate the mutations in this gene to determine cetuximab treatment in gastric cancer patients. (sigmaaldrich.com)
The researchers exposed cultures of virus-infected cells to the drug to induce resistance mutations to occur - the method mimics the process that can occur in patients during antiviral treatment. (stjude.org)
There is early evidence that the mutation is clinically significant, because scientists conducting clinical trials have observed the same mutation in patients undergoing treatment with similar drugs. (stjude.org)
Since the JAK2 genetic marker was identified in 2004, studies have shown that this mutation is present in approximately 95 percent of patients with PV. (cdc.gov)
Patients with related conditions, essential thromboycytosis (ET) and primary myelofibrosis, also can carry the mutation. (cdc.gov)
SAN ANTONIO - Uterine cancers that developed in patients treated with tamoxifen (Soltamox) had fewer PI3K pathway mutations and may have instead been driven by tamoxifen-induced PI3K pathway activation, according to results presented at the San Antonio Breast Cancer Symposium , held December 7-10, 2021 . (eurekalert.org)
The key exception was a significantly decreased frequency of mutations in the phosphoinositol-3-kinase (PI3K) signaling pathway-a well-known driver of uterine cancer development-in patients with TA-UCs. (eurekalert.org)
We were able to detect tumor mutations in milk samples from 13 of the 15 patients with breast cancer who were tested, while circulating tumor DNA was detected in only one of all the blood samples that were collected at the same time," said Vivancos. (medscape.com)
The samples from the two patients for whom no mutation was detected were discovered to be colostrum that had been collected during the first few hours of lactation . (medscape.com)
RÉSUMÉ L'objectif de cette étude menée en Tunisie était de classifier le diabète débutant par une cétose chez des patients adultes. (who.int)
Even tumor markers can be elevated in patients with chronic pancreatitis. (medscape.com)
in these patients with low or absent titer of CA 19-9, monitoring disease with this tumor marker will not be possible. (medscape.com)

In part 2, I'll be talking to you about how BRCA mutations affect ovarian reserve and reproduction. (hstalks.com)
An interesting observation we made while we were developing the letrozole protocol and tamoxifen protocols in women with breast cancer, was that those with BRCA mutations tended to have fewer oocytes on average. (hstalks.com)
If you had a BRCA1 mutation you would have a mean number of 7.4 oocytes, compared to a BRCA mutation-negative person with 11.3. (hstalks.com)
Moreover, you can see on the bar graph that women with BRCA mutations had something like 30 to 40 times higher risk of having a low response to ovarian stimulation (especially the BRCA1 type), compared to those untested and negative. (hstalks.com)
In a more recent study, we confirmed these findings, where we compared the ovarian stimulation response between women who were BRCA-negative or untested, and those who had BRCA mutations. (hstalks.com)
We found that women with BRCA mutations had much fewer oocytes and much lower numbers of embryos. (hstalks.com)
However, the use of genomics to avoid future health problems became a mainstream issue when in 2013 actress and popular icon Angelina Jolie made public her decision to undergo surgery to reduce breast cancer risk, given that she carried a BRCA mutation and had a family history of ovarian cancer. (cdc.gov)

In order to further delineate the molecular pathology of autosomal recessive cataracts, we investigated a consanguineous family with nuclear pulverulent cataracts and identified a novel germline CRYBB1 mutation. (molvis.org)
Use microsatellite instability as an independent molecular prognostic marker to help detect germline mutations and hereditary cancers. (medscape.com)

3-5 In this group, the presence of a DNMT3A and/or an FLT3 internal tandem duplication (ITD) mutation confers a poorer prognosis, whereas the presence of an NPM1 mutation in the absence of the aforementioned mutations is associated with an improved prognosis. (ascopost.com)
It is over-expressed in invasive breast cancer and is a marker for poor prognosis. (sigmaaldrich.com)

Method for elucidation and detection of polymorphisms, splice variants, and proximal coding mutations using intronic sequences of the Alzheimer's S182 gene, (2000). (wikipedia.org)
The Mc4r mutation was generated by target-selected ENU-driven mutagenesis and high-throughput resequencing of genomic sequences in Crl:Wistar background. (mcw.edu)
Figure 1 Homology in domain structures and amino acid sequences between human and mouse NLRP1 and the present knock-in mutation. (frontiersin.org)

Small-scale marker-based screening for mutations in zebrafish development. (monash.edu)
Via positional cloning, we show that mutations in a zebrafish LTCC encoding gene, cav1.3a , underlie the auditory-vestibular defects of gemini ( gem ) circler mutants. (jneurosci.org)

The discovery of epidermal growth factor receptor (EGFR) mutations in never-smokers has been the most relevant finding ever in non-small cell lung cancer. (aacrjournals.org)
At the same time, the presence of EGFR mutations has raised numerous new questions, tantalizing data, and new challenges for treatment. (aacrjournals.org)
Mechanisms of pathway activation other than mutation have been discovered in recent years, and include overexpression mediated by gene amplification or by amplification of a dinucleotide repeat in the EGFR promoter, mutation of an extracellular region on EGFR generating a mutant protein termed EGFRvIII, and enhanced signaling due to heterodimerization with other members of the EGFR family, particularly overexpression of HER2/HER3. (aacrjournals.org)
Thus far, published clinical data suggest that there is little room for the administration of gefitinib or erlotinib in the absence of EGFR mutations. (aacrjournals.org)

Auditory features of the affected individuals are consistent with that previously reported for recessive mutations in TMC1 and MYO15A . (hindawi.com)
It has been reported that mutations in TMC1 may cause both prelingual profound autosomal recessive deafness DFNB7/11 and postlingual progressive autosomal dominant deafness DFNA36 [ 13 ]. (hindawi.com)
To date, more than 60 mutations in TMC1 are reported worldwide [ 15 ], with the recessive mutations predominantly associated with prelingual severe-to-profound hearing loss [ 15 , 16 ]. (hindawi.com)
Using a forward genetic screen, we identified the recessive boygirl ( byg ) mutation. (plos.org)
To our knowledge this is the first case of an initiation codon mutation in a human crystallin gene, and only the second report of a CRYBB1 mutation associated with autosomal recessive congenital cataracts. (molvis.org)

Alas, with regard to disease-specific molecular markers, à la Aβ and phospho-tau for Alzheimer's: No dice. (alzforum.org)
The TERT marker is a molecular predictor of the aggressiveness of thyroid cancer, and the addition of it to the ThyGenX test will provide evidence that a positive result indicates the cancer is likely to be more aggressive in nature, the company said. (genomeweb.com)
Such information is critical because without it, clinicians do not know the molecular marker(s) of resistance, so monitoring resistance in trials is like searching in a darkened room. (stjude.org)

They presented a mutation in only one allele after screening of the whole gene (skeletal muscle and monocyte mRNA and genomic DNA). (nih.gov)

An autozygosity mapping strategy using high density SNP microarrays and microsatellite markers was employed to detect regions of homozygosity. (molvis.org)
In practice, the panel design allows us to detect mutations in more than 95% of breast cancer cases in women under 45 years old. (medscape.com)
This results in a good compromise between the power to detect causal mutations and the precision of their localization. (lu.se)

The researchers verified these findings by using droplet digital PCR to interrogate PIK3CA hotspot mutations in 40 other independent samples from TAMARISK and comparing the data with a cohort of de novo uterine cancers from AACR Project GENIE . (eurekalert.org)
Here again, they found a decreased incidence of PIK3CA mutations in the TA-UC samples-7.5 percent versus 21 percent. (eurekalert.org)
Kübler and Jeselsohn suggested that the tamoxifen-driven increase in PI3K pathway signaling may, in effect, substitute for a PIK3CA or PIK3R1 mutation to stimulate uterine cancer development. (eurekalert.org)

The theoretical advantage of a minimal residual disease-based prognostic marker relies on the assumption that relapses arise from submicroscopic disease reservoirs remaining after initial treatment and that minimal residual disease is the result of a combination of factors that underlie an individual's response to therapy (including leukemic stem cell biology, mechanisms of leukemogenesis, and drug-resistance mechanisms). (ascopost.com)

The model for how secondary cancers occur after chemotherapy, for example, is that cells acquire driver mutations that lead to clonal outgrowth," said presenter Kirsten Kübler, MD, PhD , an associate scientist at the Broad Institute of MIT and Harvard, research staff at Massachusetts General Hospital, and an instructor at Harvard Medical School, who recently joined the faculty of the Berlin Institute of Health at Charité in Berlin. (eurekalert.org)

Also, De Vries ventured with a hipothesis: " With the knowledge of the principles of the mutations will be possible in the future to induce mutations artificially" [ 4 ]. (intechopen.com)

In key experiments, the team's structural biologists established how the resistance mutation warped the viral endonuclease molecule to render the drug unable to plug into its target. (stjude.org)
CDC wil continue to monitor XDR Shigella infections and track Shigel a isolates with unique or worrisome antimicrobial susceptibility patterns and genetic resistance markers. (cdc.gov)

It is one of the most common causes of ADNSHL in Mideast countries due to prevalent consanguineous marriage [ 22 , 23 ], with majority associated with prelingual severe-to-profound hearing loss and mutations in exon 2 leading to a milder auditory phenotype [ 23 ]. (hindawi.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)
The frequency of the mutation in the general population is not known. (cdc.gov)

Intrafamilial cosegregation of the mutations with the hearing phenotype was confirmed in both families by the Sanger sequencing. (hindawi.com)
Our study expanded the mutation spectrums of TMC1 and MYO15A and illustrated that genotype-phenotype correlation in combination with next-generation sequencing may improve the accuracy for genetic diagnosis of deafness. (hindawi.com)

A total of 41 -thalassaemia carriers and 40 control subjects without haemoglobinopathies were screened for the C282Y, H63D and S65C mutations by polymerase chain reaction-restriction fragment-length polymorphism. (who.int)

FGFR3 mutations were detected in 78% (7/9) of postoperative urine samples from recurrent cases with FGFR3 mutations in the tumor, while no mutations were detected in the urine of 15 non-recurrent cases. (elsevierpure.com)

The markers are variations in the inherited DNA code at particular locations along chromosomes. (sciencedaily.com)

Since MECP2 mutations almost always occur de novo, their identification will substantially affect genetic counselling for the families concerned. (bmj.com)
Because subtle mutations will occur over the generations, some family branches can often (but not always) be defined or verified - provided the genealogy is known and accurate . (familytreedna.com)

He had two sons with Miyoshi myopathy with a homozygous mutation (G519R). (nih.gov)

The mutation was identified as revealed an ENU-induced premature stop codon in helix 8 (K314X) of Mc4r. (mcw.edu)
The byg mutation is an A to T transversion causing a premature stop codon in the gene encoding MAP3K4 (also known as MEKK4), a mitogen-activated protein kinase kinase kinase. (plos.org)

Scope includes mutations and abnormal protein expression. (cancerindex.org)

To investigate the mechanisms of decreased PI3K pathway mutations in TA-UCs, the researchers examined uterine tissue from tamoxifen-treated mice. (eurekalert.org)

Our results extend that view in the sense that a drug could directly activate a signaling pathway instead of creating mutations that activate the pathway. (eurekalert.org)

Detection of each mutation depends on the test used, and panel gene sequencing using next-generation sequencing may result in a higher incidence of simultaneous mutations. (medscape.com)

The concept of mutation was coined by Hugo De Vries in 1901, whom worked with plants species of the genus Oenothera where he discovered some phenotypic hereditary characteristics that he coined as "mutations" and "mutants" to those individuals that have these phenotypic alterations. (intechopen.com)

The discovery of these markers -- along with four that were previously identified is important for several reasons, said Brian Wolpin, MD, MPH, first author of the report published online by Nature Genetics . (sciencedaily.com)

The mutations are believed to result in the production of an unstable enzyme with little or no activity. (medlineplus.gov)
These mutations change single amino acids in the PRPP synthetase 1 enzyme, resulting in a poorly regulated, overactive enzyme. (medlineplus.gov)
Genetic analysis of the resistant virus revealed a single mutation in the gene that codes for the endonuclease enzyme. (stjude.org)
That mutation subtly alters the enzyme's shape such that the drug no longer fits into the enzyme molecule to inactivate it. (stjude.org)

To describe two symptomatic dysferlin gene mutation carriers. (nih.gov)
The diagnosis of symptomatic carriers of dysferlin mutations should be considered when a pathologic pattern of dysferlin protein is observed. (nih.gov)
For GRN mutation carriers, CSF progranulin rose in response to treatment, and a marker of lysosomal dysfunction tracked with symptom onset. (alzforum.org)
As a group, presymptomatic mutation carriers do not have significantly different levels of NfL, NPTX2, or other biomarkers compared to noncarriers, he said. (alzforum.org)
Staffaroni wove data from ALLFTD and GENFI, on 677 mutation carriers and 372 noncarriers, into his model to get a view of plasma NfL along with a handful of neuroimaging and cognitive markers. (alzforum.org)
ABSTRACT A case-control study aimed to determine the prevalence of C282Y, H63D and S65C mutations of the HFE gene in -thalassaemia carriers and investigate their influence on iron absorption. (who.int)

MYO15A mutations are responsible for congenital deafness DFNB3 in human and cochleovestibular dysfunction in shaker 2 mice which shows abnormally short stereocilia bundles and diminished staircase [ 20 , 21 ]. (hindawi.com)

FGFR3 mutations were detected in 53.3% (24/45) of primary tumor tissues, among which intravesical recurrence developed in 37.5% (9/24) of cases. (elsevierpure.com)

Association studies implied specific oncogenic mutations in malignant cells as determinants of PC status. (lu.se)

Other markers, such as retinoblastoma and p53, may be related with early steps of carcinogenesis in oral cavity squamous cell carcinoma. (bvsalud.org)

A large DNA analysis of people with and without pancreatic cancer has identified several new genetic markers that signal increased risk of developing the highly lethal disease. (sciencedaily.com)
A large DNA analysis of people with and without pancreatic cancer has identified several new genetic markers that signal increased risk of developing the highly lethal disease, report scientists from Dana-Farber Cancer Institute. (sciencedaily.com)
The risks linked to each SNP or marker were largely independent and additive, so that they may have utility in future attempts to identify individuals in the general population at higher risk for pancreatic cancer. (sciencedaily.com)
Somatic mutations are genetic alterations in cells that increase cancer risk. (fda.gov)
Though we knew that breast cancer is not transmitted through breast milk, we decided to test the sample and look for markers that could help our research. (medscape.com)

The Agency for Toxic Substances and Disease Registry has released its final report regarding the Community Health Screening for the JAK2 genetic marker. (cdc.gov)
Following two rounds of community health screening in northeastern Pennsylvania for the JAK2 genetic marker, 19 (1.6%) of the 1,170 persons tested were found to have this mutation. (cdc.gov)

They found that tamoxifen increased the expression of Ki67, a marker of cell proliferation. (eurekalert.org)
They found that co-treatment diminished the increases in Ki67 staining and markers of PI3K signaling. (eurekalert.org)

Francisella tularensis, a potent human pathogen and a pu- needed, not only because of their use in clinical and public tative bioterrorist agent, we combined analysis of insertion- health work but also because of a rising concern associated deletion (indel) markers with multiple-locus variable-number with risks for bioterrorism ( 4 , 8 ). (cdc.gov)
So for clinical use, we usually ask the tumor to be tested for both the mutations as well as the immune marker. (cancer.net)
The data included clinical characteristics, immunological markers and -cell function. (who.int)

Serum AMH is the most sensitive marker of ovarian reserve. (hstalks.com)
In a study in 2013, a prospective study, we found that women, especially with BRCA1 mutations, had lower serum AMH levels compared to those who were negative. (hstalks.com)

Anatomy14

Organisms13

Diseases20

Chemicals and Drugs64

Analytical, Diagnostic and Therapeutic Techniques and Equipment34

Psychiatry and Psychology1

Phenomena and Processes114

Disciplines and Occupations2

Anthropology, Education, Sociology and Social Phenomena1

Information Science4

Named Groups3

Health Care8

Geographicals1

Genes16

Gene mutations6

Somatic-mutation1

Contain mutations2

Missense mutation1

V600E12

Tumors6

Colorectal cancer2

Genome3

Biomarker5

KRAS9

Patients20

BRCA7

Germline2

Prognosis2

Sequences3

Zebrafish2

EGFR4

Recessive5

Molecular3

Allele1

Detect3

PIK3CA3

Prognostic marker1

Cancers1

Induce1

Resistance2

Exon1

Frequency2

Phenotype2

Polymerase1

Recurrent1

Variations1

Occur2

Homozygous1

Premature stop2

Abnormal1

Mechanisms1

Pathway1

Incidence1

Hereditary1

Genetics1

Enzyme4

Carriers6

Congenital1

Recurrence1

Malignant1

Squamous1

Cancer5

Genetic marker2

Ki672

Clinical3

Serum2