Genes point mutation. Medical search. Frequent questions

With the help of a functionally informative sequencing method called FunSeq2, the researchers identified non-driver, somatic mutations and their predicted functional impact in 2,548 tumors profiled for the Pan Cancer Analysis of Whole Genomes (PCAWG). (genomeweb.com)
Building on recent studies suggesting that passenger mutations may "weakly affect tumor cell fitness by promoting or inhibiting tumor growth," the authors used a quantitative sequencing strategy known as FunSeq2 to score the predicted functional effects of somatic mutations present in 2,548 PCAWG tumor samples. (genomeweb.com)

Two novel missense mutations, Phe18Leu in exon 2 and Arg58Gln in exon 4 were identified in three unrelated families. (nih.gov)
one heterozygous de novo ANGPT2 whole-gene deletion and four heterozygous ANGPT2 missense mutations. (genengnews.com)
Functional analyses revealed three missense mutations that resulted in decreased ANGPT2 secretion and inhibited the secretion of wild-type (WT)-ANGPT2, suggesting to the authors that these mutations "have a dominant-negative effect on ANGPT2 signaling. (genengnews.com)
The latter are always missense mutations, causing single amino acid substitutions in most of the cases. (alzforum.org)

Mutation rates are tricky to measure directly because mutations are identified by examining the phenotypes or DNA sequences of bacterial cultures many generations after the mutations would have happened. (fieldofscience.com)
A number of maternally inherited mitochondrial diseases with distinct clinical phenotypes have been associated with point mutations in mtDNA, all of which result in neurologic or neuromuscular disorders. (celljournal.org)
W]e adapted an additive effects model from complex trait studies to show that the aggregated effect of putative passengers, including undetected weak drivers, provides significant additional power ([around 12 percent] additive variance) for predicting cancerous phenotypes, beyond PCAWG-identified driver mutations," the authors explained. (genomeweb.com)
Additionally, it can knock out genes, facilitating efforts to elucidate gene functions through the analysis of mutant phenotypes. (mdpi.com)
Researchers link different mutations in a single gene to autistic and schizophrenic phenotypes in mice. (the-scientist.com)
These data demonstrate that different alleles of the same gene may have distinct phenotypes," the authors wrote in their paper. (the-scientist.com)
Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes. (lu.se)
Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA. (lu.se)
Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency. (lu.se)

Five disease genes encoding sarcomeric proteins and associated with familial and classical forms of hypertrophic cardiomyopathy have been determined since 1989. (nih.gov)
The tub gene is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. (nih.gov)
Several studies showed that mutations in the tRNA genes of mtDNA could cause mitochondrial disease due to the decreased synthesis of mitochondrial DNA coded proteins. (celljournal.org)
Several molecular mechanisms with antifungal agents have been reported for C. albicans where insertions, deletions, and point mutations in genes codifying target proteins are frequently related to the antifungal drug resistance. (intechopen.com)
Furthermore, gene overexpression is also frequently associated to antifungal resistance as well as an increase in the activity of proteins that reduce oxidative damage. (intechopen.com)
In those cases, a gene is created that does not contain the correct information to produce the proteins that it normally makes. (scienceclarified.com)
One way to conceptualize this process is to think of the gene as a recipe for an amino acid (amino acids are the building blocks of proteins). (scienceclarified.com)
Six proto-oncogenes (K-ras, c-myc, c-fos, c-jun, c-sis, and erbB), as well as the p53 tumor suppressor, were investigated for gene amplification using differential polymerase chain reaction (PCR), while the expression of the proteins produced by these genes was evaluated by Western blot analysis. (cdc.gov)
There were no point mutations observed in codons 12, 13, and 61 of K-ras or in exons 4-10 of p53 and no observed differences in the levels of any of the proteins studied. (cdc.gov)

A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a sequence of DNA or RNA. (genengnews.com)
All subjects harbored a novel, heterozygous, point mutation (T→G) at nucleotide position 1724 of the hGR gene, which resulted in substitution of valine by glycine at amino acid 575 of the receptor. (qxmd.com)
In a point mutation a single nucleotide is changed, which can lead to other mutations later on such as a missense or nonsense mutation. (mometrix.com)
This frameshift will result in a mutation if the nucleotide change is not a multiple of three. (mometrix.com)
G) point mutation at nucleotide 1691 in Farhat Hached Hospital, Sousse. (who.int)

Heterozygous" mutant DNA samples gave signal intensity ratios close to 1 at the positions of the mutations as expected. (hindawi.com)
The DNA of each patient bores one heterozygous mutation in one of these genes. (hindawi.com)
Four heterozygous point mutations were typed in the three genes implicated in CMT disease. (hindawi.com)
[3] It is estimated that approximately 72,000 Americans are homozygous for the sickle cell gene (i.e. the SS genotype) and have SCD, [4] and 2 million are heterozygous carriers (i.e. the AS genotype) and therefore have sickle cell trait. (medscape.com)

To screen for microheterogeneities in the dystrophin gene, we applied analysis by chemical mismatch cleavage to thirteen exons amplified in multiplex sets by the polymerase chain reaction. (elsevierpure.com)

These consequences can range from benign (e.g. synonymous mutations) to catastrophic (e.g. frameshift mutations), with regard to protein production, composition, and function. (genengnews.com)
Both point mutations are frameshift mutations in exons 12 and 48, respectively, and are closely followed by stop codons, thus explaining the functional deficiency of the dystrophin gene products in both patients. (elsevierpure.com)

New research shows that inactivating mutations in ANGPT2 are associated with primary lymphedema in humans. (genengnews.com)
ANGPT2 has previously been shown to influence lymphatic development in mice, but this is the first time when mutations in this gene were found to cause lymphedema in humans," noted Alitalo. (genengnews.com)
The short-stature homeobox gene (SHOX), also known as short-stature-homeobox-containing gene, is a gene located on both the X and Y chromosomes, which is associated with short stature in humans if mutated or present in only one copy (haploinsufficiency). (wikipedia.org)
Since humans have approximately 32,000 genes, it is to be expected that most sex cells contain at least one mutation of some sort. (scienceclarified.com)

Using DNA from blood samples, the researchers conducted a whole exome sequencing -- mapping out the protein-coding genes in the genome of each family member. (sciencedaily.com)
They also explored potential passenger mutation interactions with transcription factor binding sites and other regulatory features in the genome and looked at the relationship between proposed passenger mutations and tumor features overall - from the apparent mutational processes at play to the mutation patterns in tumor sub-clones. (genomeweb.com)
On average, a person carries around 200 spontaneous mutations in their genome, which accounts for less than 1% of the 20,000 genes found in the human genome. (mometrix.com)
Here we present analyses of driver point mutations and structural variants in non-coding regions across 2,658 genomes from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium5 of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). (lu.se)

In sickle cell anemia, a point mutation on the β-globin gene results in glutamic acid substituting for valine at position 6 of the amino acid sequence. (medscape.com)
[2] In the United States, 1 in 12 African Americans carries the sickle cell gene and 1 in 375 has sickle cell anemia. (medscape.com)

An additional mutation in PAM sequence (exon 35) improved a PE2 result to 38% for a single transfection. (alliedacademies.org)
The mutation alters a part of the gene's protein sequence that is normally consistent across species as variable as mice and frogs. (sciencedaily.com)
A specific sequence of mutations triggers with the APC gene following with mutations in the KRAS, TP53, and DCC genes are observed in approximately 70% of CRC cases ( Fearon and Vogelstein, 1990 ). (frontiersin.org)
Broadly speaking, a mutation means there's a change in the DNA sequence. (mometrix.com)
Mutations can change the DNA sequence in a variety of ways. (mometrix.com)
Under this is shown the amino acid sequence and the Pfam protein structures, followed by complex mutations and insertions and deletions. (sanger.ac.uk)
They can be as small as a point mutation, which is a change in a single DNA condon [three base pairs in a DNA sequence that specify the instructions for making an amino acid] or as large as a major structural modification in chromosomes and even missing or extra chromosomes. (scienceclarified.com)

Alternative transcripts are also displayed here for genes where reported resistant mutations are not located on the canonical transcript but are on the alternative, and also where reported resistant mutations are located at the same genomic position on both the canonical and alternative transcripts or on overlapping genes and/or fusions and share a COSM id. (sanger.ac.uk)
These results suggest that cell transformation induced by Cd may be attributed, at least in part, to gene amplification of c-myc and c-jun and that some of the Cd-transformed cells may possess neoplastic potential resulting from genomic instability. (cdc.gov)
Studies on the prevalence of Using a proteinase K and a saline extrac- the FVL mutation have revealed an uneven tion protocol, genomic DNA was extracted ethnic and geographical distribution. (who.int)

FLICKR, MR MCGILL Mutations in a single gene can play roles in multiple neurological disorders , such as schizophrenia and bipolar disorder. (the-scientist.com)
This study gives a glimpse into the mechanism by which different mutations within the same gene can cause distinct defects in the brain, and may help to explain how they may contribute to different disorders," study coauthor Guoping Feng of MIT said in a press release . (the-scientist.com)
disease, we assessed the prevalence of FVL mutation among thrombosis patients and Disorders of the haemostatic mechanisms healthy subjects in a hospital in Sousse, that contribute towards a predisposition to Tunisia. (who.int)

We conclude that FLT3 dual mutations occur rarely in AML, and appear to be related to clonal evolution. (elsevierpure.com)
Today, we'll look at these pros and cons, as well as the different types of mutations that can occur. (mometrix.com)
Let's start by focusing on the types of mutations that can occur within our cells. (mometrix.com)
There are three ways that mutations can occur. (mometrix.com)
Remember that silent mutations and frameshift changes that occur in multiples of three can go unnoticed. (mometrix.com)
In the tabs below you can see any other genes that have resistance mutations to the same drug(s), and the distribution of mutations that occur in those genes. (sanger.ac.uk)
In order for a mutation to be inherited, it must occur in the genetic material of a sex cell,' O'Neil says. (scienceclarified.com)
Mutations occur when DNA replicates itself. (scienceclarified.com)

Two other mutations causing congenital analgesia are being actively explored by researchers alongside pharmaceutical firms, but have yet to yield any breakthrough drugs. (sciencedaily.com)
The researchers then conducted two animal studies to understand how the gene affects pain sensations in mice. (sciencedaily.com)
NEW YORK - Results from a new analysis of tumor sequences, led by researchers at Yale University, suggest that passenger mutations may not be as benign as previously believed but may work together to influence tumorigenesis in more subtle ways than cancer driver mutations. (genomeweb.com)
In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms. (genomeweb.com)
In addition to repairing faulty genes, medical researchers now have within their grasp the ability to analyze individual genomes-the total genetic makeup of specific organisms-to see if they have a full complement of genes and to add healthy versions of those that are missing. (scienceclarified.com)
By mutating the gene to remove the protein altogether, the researchers previously showed that they could induce autism-like traits in mice. (the-scientist.com)
In 2010, researchers from the University of Montreal linked the gene to schizophrenia. (the-scientist.com)
To identify point mutations, the researchers also performed DNA re-sequencing of 25 genes that are commonly mutated in adult AML. (scienceblog.com)
The researchers found slightly more than two CNAs per AML patient, and less than one point mutation per patient in the genes sequenced. (scienceblog.com)

So when a stimulus like hypoxia changes our genes, these epigenetic changes to the genes go away rather quickly when the hypoxic insult is gone, which contrasts genetic mutations that arise from modifications to the genetic code leading to relatively permanent changes. (scienceblogs.com)

Our analyses confirm previously reported drivers6,7, raise doubts about others and identify novel candidates, including point mutations in the 5' region of TP53, in the 3' untranslated regions of NFKBIZ and TOB1, focal deletions in BRD4 and rearrangements in the loci of AKR1C genes. (lu.se)

ABSTRACT This study determined the prevalence of inherited factor V Leiden mutation in a group of 128 thrombosis patients (102 with venous thrombosis and 26 with arterial thrombosis) attending a hospital in Sousse, Tunisia, and a control group of 100 with no history of thrombosis. (who.int)

About one third of Duchenne muscular dystrophy (DMD) patients have no gross DNA rearrangements in the dystrophin gene detectable by Southern blot analysis or multiplex exon amplification. (elsevierpure.com)
Presumably, in these cases, the deficiency is caused by minor structural lesions of the dystrophin gene. (elsevierpure.com)

A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype. (bmj.com)
The aim of the present study was to search for mutations in the ventricular regulatory myosin light chain gene (MYL2), located on chromosome 12q23q24.3, in a panel of 42 probands presenting a classical phenotype of familial hypertrophic cardiomyopathy. (nih.gov)
In conclusion, we show that mutations in the MYL2 gene may be involved in familial and classical forms of hypertrophic cardiomyopathy, and we provide new tools for the genetic analysis of patients with familial hypertrophic cardiomyopathy. (nih.gov)
Gamma-secretase gene mutations in familial acne inversa. (alzforum.org)
Two well-known examples for polyposis and HNPCC are familial adenomatous polyposis (FAP) and Lynch syndrome, respectively, in which occurs as a result of mutations in DNA repair genes ( Lynch and de la Chapelle, 2003 ). (frontiersin.org)
Familial CRC, caused by hereditary mutations, is the type of cancer that neither its molecular mechanism is precisely known nor cannot be classified as a specific hereditary cancer ( Stoffel and Kastrinos, 2014 ). (frontiersin.org)

In 1996 two other genes encoding ventricular regulatory and essential myosin light chains were shown to be associated with a particular phenotype of the disease characterized by mid left ventricular obstruction. (nih.gov)
One possible treatment may be a gene therapy strategy, if we could find a way to mimic the Marsili phenotype by overexpressing the mutated transcription factor," added co-author Professor John Wood (UCL Wolfson Institute for Biomedical Research). (sciencedaily.com)
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. (medlineplus.gov)
However, to date, only a single human DMD case has been described where a point mutation, producing a stop codon, accounts for the DMD phenotype. (elsevierpure.com)
There are currently 20 retinal genes whose mutations cause the phenotype of LCA, accounting for about 70% of the cases, while the genes underlying the remaining 30% of patients await discovery. (aao.org)

Among the identified mutations, one deletes one copy of the entire gene, whereas the four other ones are amino acid substitutions. (genengnews.com)

They identified a novel point mutation in the ZFHX2 gene. (sciencedaily.com)
A novel point mutation of the human glucocorticoid receptor gene causes primary generalized glucocorticoid resistance through impaired interaction with the LXXLL motif of the p160 coactivators: dissociation of the transactivating and transreppressive activities. (qxmd.com)

abstract = "FLT3 gene mutations, either internal tandem duplication or point mutation type, are common in acute myeloid leukaemia (AML). (elsevierpure.com)
Ann Hum Genet 2007(Pt 3): 336-47 [ PubMed abstract ]. (lu.se)

Single-strand conformation polymorphism analysis was used to search for mutations in the coding segments of the MYL2 gene, and the abnormal products were sequenced. (nih.gov)
Point mutations in K-ras and p53 were studied by PCR restriction fragment length polymorphism analysis and DNA sequencing. (cdc.gov)

T]he FunSeq tool assigns a molecular functional impact score to a mutation based on various features," the authors explained, such as "inter-species conservation, gain or break of transcription factor motifs, disruption of known enhancer-gene interactions, and centrality in the gene regulatory or protein-interaction network. (genomeweb.com)
The molecular basis of the condition has been ascribed to inactivating mutations in the human glucocorticoid receptor (hGR) gene. (qxmd.com)
The objective of the study was to present three new cases caused by a novel mutation in the hGR gene and to delineate the molecular mechanisms through which the mutant receptor impairs glucocorticoid signal transduction. (qxmd.com)
This accession is particularly suitable for mutation studies and molecular research due to its compact growth habit and small size. (mdpi.com)
Together, our study potentially provides a mechanistic explanation on how distinct mutations of the Shank3 gene may lead to distinct molecular, synaptic, and circuit defects and relevant behavior abnormalities. (the-scientist.com)
Point mutations involve a single chemical change in the molecular building blocks of DNA. (scienceblog.com)

Their findings, documented in a paper in Cell on Thursday , indicated that passenger mutations broadly line up with broader tumor signatures and tumor sub-clone features, potentially adding up to influence cancer features in complex ways. (genomeweb.com)
Findings from past pan-cancer analyses indicate that the average tumor contains roughly five driver mutations, the team noted, while the vast majority of alterations fall into the passenger mutation category. (genomeweb.com)
We found that tumor cells in 90 percent of the patients we tested contained a single point mutation, an error in one of the bases that make up the 'rungs' of the DNA helix," says Steven Treon, MD, PhD, who led the research with his Dana-Farber colleague Zachary Hunter. (sciencedaily.com)
In subsequent experiments, when we treated the tumor cells with drugs that target the pathway activated by the mutated gene, the cells underwent apoptosis, or programmed cell death. (sciencedaily.com)
Ninety percent of the tumor cells had a point mutation in the gene MYD88. (sciencedaily.com)
This study provides insight into the value of extremely precise characterizations of mutations in a child's tumor in the design of new treatments. (chop.edu)
Along with co-first author Shih- Shan Lang, MD, Sievert works in the translational laboratory of neurosurgeon Phillip Storm, MD, and Adam Resnick, PhD. Sievert and colleagues were among several groups that first identified that mutations in the BRAF gene were highly prevalent in astrocytomas, the most common type of brain tumor in children. (chop.edu)
Further investigation by the team revealed how tumor behavior depended on which type of BRAF mutation was involved. (chop.edu)
When used against the fusion gene, first-generation drugs activated the MAPK signaling cascade and accelerated tumor growth. (chop.edu)

Mutations are alterations in existing genes,' says evolutionary biologist Dennis O'Neil. (scienceclarified.com)

Along with strong driver mutations and passenger mutations predicted to have neutral effects, the team's analysis pointed to a set of passenger mutations suspected of having intermediate effects on genes from immune, metabolic, and other pathways. (genomeweb.com)
What pathways are this gene/protein implicaed in? (cancerindex.org)

Although such a difference in mutation rates might indeed be beneficial, since most non-neutral mutations are harmful, the result seems very improbable because we don't know of any mechanism by which the processes that cause mutations could adjust their activities according to the function of particular DNA sequences. (fieldofscience.com)
However, important phenotypic differences, such as resistance to antibiotics, are often the result of just one or a few point mutations in otherwise identical sequences. (pensoft.net)
Therefore, much larger numbers of sequences may be required for reliable detection of mutations than for most other applications of shotgun metagenomics. (pensoft.net)
All DNA sequences for the three genes known to be involved in CMT disease, for healthy individuals and patients, were confirmed by direct sequencing. (hindawi.com)
We show that although point mutations and structural variants that drive cancer are less frequent in non-coding genes and regulatory sequences than in protein-coding genes, additional examples of these drivers will be found as more cancer genomes become available. (lu.se)

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)
A patient having clinical, biochemical, and histochemical abnormalities compatible with mitochondrial disease but without rearrangements in her mtDNA, was subjected to study for point mutations in the mitochondrial tRNA genes. (celljournal.org)
These data suggest that this mutation could well be the cause of clinical presentation of mitochondrial disease in this patient. (celljournal.org)

They initially used mice that had been bred with the ZFHX2 gene entirely absent, and found them to have altered pain thresholds. (sciencedaily.com)
They then bred a new line of mice that had the relevant mutation, and those mice were notably insensitive to high temperatures. (sciencedaily.com)
Further analysis of the mice bearing the mutation clarified that the gene regulates a number of other genes that have previously-established connections to pain signalling. (sciencedaily.com)
But seriously, this looks to me like a mutation that we've known about for some time, and published versions of mice that look like this cow (but with cute little ears and a different tail) are also out there somewhere. (scienceblogs.com)
Pleiotropic effects of alpha-SNAP M105I mutation on oocyte biology: ultrastructural and cellular changes that adversely affect female fertility in mice. (nih.gov)
Sperm from hyh mice carrying a point mutation in alphaSNAP have a defect in acrosome reaction. (nih.gov)
The mutations affected the mice at different points in their development. (the-scientist.com)
Mice with the autism-related defect showed social symptoms early on, while those with the schizophrenia-related mutation were affected most strongly as adults. (the-scientist.com)

Ethyl methane sulfonate (EMS) is a chemical widely used to induce mutations at loci that regulate economically essential traits. (mdpi.com)
Targeting Induced Loci Lesions in Genomes (TILLING) is a reverse genetic approach that allows directed identification of mutations in specific genes. (frontiersin.org)

A nonsense mutation is a point mutation that changes one amino acid to form a premature stop codon during transcription and translation. (mometrix.com)
Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry. (lu.se)

Upon analysing 162 patients with nonsyndromic recessive retinitis pigmentosa (RP) and 374 simplex cases of RP, we found two who were compound heterozygotes for mutations that cosegregated with disease in the respective families. (nih.gov)
Our data suggest that mutations in TULP1 are a rare cause of recessive RP and indicate that TULP1 has an essential role in the physiology of photoreceptors. (nih.gov)
The HAO1 gene is inherited in an autosomal recessive manner, which means that a person must inherit two copies of the defective gene - one from each parent - to develop the condition. (tangut.net)
Many of these mutations are recessive so not every generation will have these mutations passed along. (mometrix.com)

RRResearch: Have bacteria evolved gene-specific rates of point mutations? (fieldofscience.com)

In a series of follow-up analyses, the investigators used machine learning and other methods to delve into the relative contributions of various passenger mutations to tumorigenesis. (genomeweb.com)

Several transcript variants encoding different isoforms have been found for this gene. (cancerindex.org)

The onuba5 gene mutation is caused by a defect in the HAO1 gene, which is responsible for producing an enzyme called hydroxyacid oxidase 1. (tangut.net)
Reversing a point mutation in the cep15 gene produced a functional enzyme. (scienceblogs.com)
Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy. (lu.se)
An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity. (lu.se)

In some cases, an affected person inherits a gene mutation or chromosomal abnormality from one affected parent . (medlineplus.gov)
Downing said the analysis identified focal CNAs adjacent to genes previously linked to chromosomal translocations. (scienceblog.com)

We hope your happy with this Gene and Chromosome Mutation Worksheet Mutations Worksheet 2 Point Mutation idea. (ventureitch.com)
You can download and please share this Gene and Chromosome Mutation Worksheet Mutations Worksheet 2 Point Mutation ideas to your friends and family via your social media account. (ventureitch.com)
Gene dosage effects of extra copies of SHOX may be a cause of the increased stature seen in other sex chromosome aneuploidy conditions such as triple X, XYY, Klinefelter, XXYY and similar syndromes. (wikipedia.org)
Since genes in PAR escape X inactivation, their dosage changes with sex chromosome aneuploidies such as Turner. (wikipedia.org)
or rearrangement of genetic material-in the region of chromosome 7 that contains the GLI3 gene. (medlineplus.gov)
The Melanocortin-1 Receptor Gene is a regulator of eumelanin production and is located on chromosome (MCIR) 16q24.3. (utah.edu)

These mutations originate in mitosis and only affect cells that descend from that single, mutated cell. (mometrix.com)

This gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. (medlineplus.gov)

Sequencing of the K13 propel- rarely observed in samples from provinces without docu- ler gene was attempted on the diagnostic PCR-positive mented resistance but are prevalent in provinces with re- specimens (online Technical Appendix). (cdc.gov)
We demonstrate the utility of the tool by quantifying antibiotic resistance mutations in several publicly available metagenomic data sets. (pensoft.net)
For example, there is a beneficial mutation that affects certain people around the world known as G6PD-Mahidol 487A, which has been linked to malaria-resistance. (mometrix.com)
This section shows the drugs associated with RPS17 resistance mutations. (sanger.ac.uk)
The available variations in the existing gene pool of Chinese cabbage must be increased to identify significant genes in key traits, such as disease/pest resistance, stress tolerance, nutritional quality, and plant architecture. (frontiersin.org)

Each of these genetic changes prevents one copy of the gene in each cell from producing any functional protein. (medlineplus.gov)
The mutation impact filters are derived from the FATHMM-MKL algorithm ( Functional Analysis through Hidden Markov Models ). (sanger.ac.uk)
Neuroscientists at MIT have identified a gene, Shank3, that plays a functional role in both schizophrenia and autism, they reported yesterday (December 10) in Neuron . (the-scientist.com)

While genetic research has yielded accurate genetic tests for some single-gene conditions (for example Huntington's disease, Duchenne's muscular dystrophy), research continues into a wide range of multifactorial conditions (for example heart disease, diabetes, and behavioural traits) that will be explained only partially by the isolation of a gene or group of genes. (bmj.com)

This is NOT a known cancer gene. (sanger.ac.uk)
It is not found in the Cancer Gene Census . (sanger.ac.uk)
Mouse insertional mutagenesis experiments DO NOT support the designation of RPS17 as a cancer causing gene. (sanger.ac.uk)
This gene does not have a cancer hallmark. (sanger.ac.uk)
One of the biggest questions in science right now is how we will use the flood of gene-sequencing data to customize treatments," says first author Angela J. Sievert, MD, MPH, a pediatric neuro-oncologist in the Cancer Center at CHOP. (chop.edu)
Despite the low overall number of lesions in the patients studied, novel recurring regions of genetic alteration were identified that harbor known and potential new cancer genes. (scienceblog.com)
however, the possible mechanism of carcinogenesis with regards to the activation and inactivation of cancer-related genes has not yet been fully elucidated. (cdc.gov)
In this study, amplification, expression, and point mutation of cancer-related genes associated with Cd-induced cell transformation in BALB/c-3T3 cells were studied. (cdc.gov)

Bentahir M, Nyabi O, Verhamme J, Tolia A, Horré K, Wiltfang J, Esselmann H, De Strooper B . Presenilin clinical mutations can affect gamma-secretase activity by different mechanisms . (alzforum.org)
This preclinical work has laid a foundation for multicenter clinical trials to test the mutation-specific targeting of tumors in children with astrocytomas, Sievert says. (chop.edu)
Analysis of anti-melanoma differentiation-associated gene 5 antibody in Hong Kong Chinese patients with idiopathic inflammatory myopathies: diagnostic utility and clinical correlations. (cdc.gov)
Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery. (lu.se)

The Properties of Adaptive Walks in Evolving Populations of Fungus: The rarity of beneficial mutations has frustrated efforts to develop a quantitative theory of adaptation. (scienceblogs.com)
Recent models of adaptive walks, the sequential substitution of beneficial mutations by selection, make two compelling predictions: adaptive walks should be short, and fitness increases should become exponentially smaller as successive mutations fix. (scienceblogs.com)
In fact, like I mentioned earlier, some mutations can be beneficial. (mometrix.com)

However, attempts to quantify point mutations in metagenomic sequencing data often go wrong because the methods do not distinguish sufficiently well between mutated and wildtype variants of the same gene. (pensoft.net)
In this study, we provide a partial remedy to these problems through the introduction of a software tool, Mumame (Mutation Mapping in Metagenomes), that can quantify and distinguish between wildtype and mutated gene variants in metagenomic data, and through suggesting a statistical framework for handling the output data of the software. (pensoft.net)

The August Krogh Distinguished lecture was awarded to Dr. Warren Burggren, who gave a fantastic lecture on epigenetics, or modifications to gene expression. (scienceblogs.com)
Na(+) influx via Orai1 inhibits intracellular ATP-induced mTORC2 signaling to disrupt CD4 T cell gene expression and differentiation. (nih.gov)
Expression of this gene is induced by TGFBR1. (cancerindex.org)
Scope includes mutations and abnormal protein expression. (cancerindex.org)
Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
Over a prolonged period of exposure, these changes eventually lead to neoplastic transformation, in particular changes in the expression of p53 mutations. (medscape.com)

In this paper we demonstrate that coupling a multiplexing procedure with our microarray method is possible for the simultaneous detection and genotyping of four point mutations, in three different genes, involved in Charcot-Marie-Tooth disease. (hindawi.com)

the fourth mutation affects a splice donor site upstream of this region. (nih.gov)
The onuba5 gene mutation is a rare genetic disorder that affects the liver. (tangut.net)
The onuba5 gene mutation is a rare genetic disorder that affects the liver and can lead to liver failure if left untreated. (tangut.net)

We show here that the multiplex genotyping of multiple mutation sites is possible, based on multiplex PCR DNA amplification and a stem-loop probe method. (hindawi.com)
Among 10 Cd-induced transformed cell lines, significant gene amplification was found for c-myc and c-jun in 50% and 80% of the cell lines, respectively. (cdc.gov)

The presence of point mutations in the MCIR gene alleles is a common feature in light skinned and blue/green eyed people (J.A.W. Metzelaar-Blok et al. (utah.edu)

Magesh S, Jonsson V, Bengtsson-Palme J (2019) Mumame: a software tool for quantifying gene-specific point-mutations in shotgun metagenomic data. (pensoft.net)

For example, patients with mutations in CRB1 , LRAT , CEP290, or RPE65 may have VA better than 20/50 and may actually be diagnosed later in early childhood, and sometimes designated as having early-onset childhood retinal dystrophy or early-onset severe childhood retinal dystrophy, rather than LCA. (aao.org)

Analytical, Diagnostic and Therapeutic Techniques and Equipment5

Phenomena and Processes12

Information Science3

Somatic mutations2

Missense mutations4

Phenotypes9

Proteins9

Nucleotide5

Heterozygous4

Polymerase Chain Re1

Frameshift mutations2

Humans4

Genome4

Sickle-Cell A2

Sequence7

Genomic3

Disorders3

Occur8

Researchers9

Genetic mutations1

Deletions1

Prevalence1

Dystrophin gene2

Familial6

Phenotype5

Amino acid substitutions1

Novel point mutation2

Abstract2

Polymorphism2

Molecular6

Tumor9

Alterations1

Pathways2

Sequences5

Mitochondrial3

Mice8

Loci2

Nonsense mutation2

Recessive4

Evolved gene-specific1

Tumorigenesis1

Transcript1

Enzyme4

Chromosomal2

Chromosome6

Mitosis1

Regulates1

Resistance5

Functional3

Single-gene1

Cancer8

Clinical4

Beneficial3

Variants2

Expression6

Detection1

Affects3

Amplification2

Alleles1

20191

Retinal1