Modifies genes modifier. Medical search. Frequent questions

Further analysis of the APC gene revealed the existence of various mutations in cancer sufferers that also play a role in the onset of the sporadic form of colorectal cancer. (wikipedia.org)
The most frequent mutations in Hereditary nonpolyposis colorectal cancer (HNPCC) are mutations in the MSH2 and MLH1 genes. (wikipedia.org)
Mice with mutations in transforming growth factor-β1 gene introduced into 129/Sv Rag2 mutant mouse accelerates adenocarcinomas with strong local invasion suggesting a role for genetic background in tumor development. (wikipedia.org)
Sickle cell disease (SCD), the most frequent monogenic disease worldwide, is caused by mutations in the β-globin gene. (haematologica.org)
BRCA1/2 mutations confer high lifetime risk of breast cancer, although other factors may modify this risk. (escholarship.org)
Mutations in the gene can result in non-syndromic orofacial cleft 10. (thermofisher.com)
The BRCA genes are the most commonly mutated genes in hereditary breast cancer, but the types of mutations and their impact on risk vary widely. (bcrf.org)
In recent years, scientists have uncovered many less common gene mutations associated with breast cancer, and work by Dr. Kenneth Offit and others suggests that many of these act to modify risk (either increasing or decreasing it) when combined with BRCA or other mutations. (bcrf.org)
Dr. Offit discussed international efforts to study these risk modifiers and plans for a clinical trial in BRCA2 mutation carriers to test how knowledge of modifying mutations will impact patient treatment decisions and outcomes. (bcrf.org)
Mutations in the BRCA1 and BRCA2 genes are highly prevalent in Ashkenazi Jews, but genetic screening is typically only recommended for those with a family history of cancer. (bcrf.org)
White spotting (also called Dominant White) is a collective term for a variety of piebald patterns caused by different mutations in the KIT gene. (genecontrol.de)
Junctional epidermolysis bullosa is associated with mutations in genes expressing proteins of the dermo-epidermal junction. (bvsalud.org)
Monogenic disorders are traditionally attributed to the presence of mutations in a single gene. (e-kjgm.org)
However, recent advancements in genomics have revealed instances where the phenotypic expression of apparently monogenic disorders cannot be fully explained by mutations in a single gene alone. (e-kjgm.org)
The traditional paradigm monogenic disorders, also known as Mendelian disorders, are characterized by the presence of mutations in a single gene that contribute to the development of a specific phenotype or disease. (e-kjgm.org)
In these cases, a specific mutation or set of mutations in a single gene can be directly linked to the development of the disorder. (e-kjgm.org)
While monogenic disorders were traditionally attributed to mutations in a single gene, there is increasing evidence to suggest that the phenotypic expression of some apparently monogenic disorders cannot be fully explained by mutations in a single gene alone. (e-kjgm.org)
Digenic inheritance refers to the involvement of mutations in two genes to manifest a particular phenotype or disease. (e-kjgm.org)
However, among 72 patients from different families, we identified only 38 patients with biallelic mutations in the coding exons and splice junctions of the SMARCAL1 gene. (eur.nl)
We hypothesize therefore that the variable expressivity among patients with biallelic SMARCAL1 mutations arises from environmental, genetic, or epigenetic modifiers. (eur.nl)
Spinal muscular atrophies usually result from autosomal recessive mutations that affect the survival motor neuron 1 ( SMN1 ) gene on the long arm of chromosome 5, most often causing a homozygous deletion of exon 7. (msdmanuals.com)
However, because individuals with KANSL1 gene mutations have the same signs and symptoms as those with the microdeletion, researchers have concluded that the loss of this gene accounts for the features of this disorder. (medlineplus.gov)
[ 2 , 3 , 4 ] A full list of the described mutations is available at the TBX5 Gene Mutation Database , an online locus-specific database that contains germline and somatic mutations of the TBX5 gene. (medscape.com)
Mutations of this gene introduce a premature stop codon and result in truncated protein versions. (medscape.com)

This thesis deals with the role of microRNA (miRNA) regulating other epigenetic modifiers like DNA methyltransferase 1 (DNMT1), and histone methyltransferase myeloid/lymphoid or mixed-lineage leukaemia (MLL1) also known as Histone-lysine N-methyltransferase 2A. (nitrkl.ac.in)
All together this thesis supports that miR-152, miR-148a, and miR-193a are regulated by DNA methylation, and they affect the expression of the various epigenetic modifiers. (nitrkl.ac.in)
Thus HDACIs modify expression of genes without affecting sequence of DNA and act as epigenetic modifiers. (researchbib.com)

We have focused on the study of two families of proteins, kinases and histone modifying enzymes (HMEs). (bibalex.org)
Strikingly, Mlh1 and Mlh3 genes encoding MMR effector proteins were as critical to somatic expansion as Msh2 and Msh3 genes encoding DNA mismatch recognition complex MutSβ (MSH2-MSH3). (elsevierpure.com)
Polymeric SUMO1 chains are also susceptible to polyubiquitination which functions as a signal for proteasomal degradation of modified proteins. (thermofisher.com)
Epigenetic modifications such as acetylation and deacetylation of histone proteins play a decisive role in transcriptional alteration and expression of genes. (researchbib.com)
G-Biosciences Protein Acetylation Kit is designed for modifying proteins by blocking their primary amines. (gbiosciences.com)

We will conduct a population genetics-based rare variants study to identify modifier genes affecting the variability in the heart failure outcome. (ukbiobank.ac.uk)
Based on these examples, we outline genetic and environmental factors contributing to PD and review potential environmental modifiers of penetrance and clinical variability in monogenic and idiopathic PD. (lu.se)
In this Review, we outline the current genetic knowledge, emphasizing recent discoveries and emerging concepts such as the implication of distinct types of mutation, variability in mutated genes in diverse genetic ancestries and gene-environment interactions. (cdc.gov)

Tracing the molecular marks on DNA and histone 3 for understanding the mechanism of gene regulation by ChIP analyses leads to a paradoxical result that shows DNA methylation adjacent to active histone marking (enrichment of H3K4me3) silence miR- 152 gene. (nitrkl.ac.in)
Seeking alternatives to LPS priming we tried to elicit ET by priming MEC with either lipopeptide (Pam2CSK4) via the TLR2/6 axis or inhibitors of histone-modifying enzymes. (uni-muenchen.de)
Pre-treating MEC with various inhibitors of histone H3 modifiers (for demethylation, acetylation or deacetylation) all failed to induce any of the protective factors and only resulted in some dampening of cytokine gene expression after the re-challenge. (uni-muenchen.de)
Hence, triggering immune functions via the TLR axis, but not through those histone modifiers, induced the beneficial phenomenon of ET in MEC. (uni-muenchen.de)
Acetylation is catalysed by the histone acetyl transferases enzymes and activates expression of genes by converting chromatin into a less compact, transcriptionally active state. (researchbib.com)
Histone deacetylases enzymes catalyze deacetylation that condenses chromatin into a closed structure .Consequently transcriptional factors are unable to access DNA and gene expression is suppressed. (researchbib.com)
Histone Deacetylase Inhibitors (HDACIs) have potential to restore the balance of histone acetylation that reverses the silencing of pathological genes. (researchbib.com)

There are genes modifying the cancer susceptibility of these mouse models. (wikipedia.org)
To increase power to detect modifier loci conferring susceptibility to specific phenotypes such as disease diagnoses which are part of a broader disorder spectrum by jointly modeling a modifier and a broad susceptibility gene and to identify modifier loci conferring specific susceptibility to schizophrenia (SZ) or to bipolar disorder (BP) using the approach. (ulaval.ca)
We implemented a two-locus linkage analysis model where a gene 1 genotype increases the risk of a broad phenotype and a gene 2 genotype modifies the expression of gene 1 by conferring susceptibility to a specific phenotype. (ulaval.ca)
The proposed strategy is useful to detect modifier loci conferring susceptibility to a specific phenotype within a broader phenotype. (ulaval.ca)

Some of these KIT gene variants occur in certain breeds or families, only. (genecontrol.de)
BACKGROUND: Epidermolysis bullosa (EB) features skin and mucosal fragility due to pathogenic variants in genes encoding components of the cutaneous basement membrane. (bvsalud.org)
Here, we tested the degree to which risk for ALS was affected by rare variants in ALS genes, polygenic risk score, or both. (cdc.gov)

The gene mutated in this disorder lies within a 3.1 Mb interval containing 33 genes on chromosome 16q23.3-24.1 (chr16:83639061 - 86716445, hg19). (molvis.org)
By performing a whole genome linkage search, we mapped a recessive gene for this disorder to a 6.5 Mb interval on chromosome 16q23.2-24.2. (molvis.org)
Linkage analysis located Mom1 on chromosome 4, and further investigation identified secretory phospholipase A2 (Pla2g2a) as a candidate gene. (ox.ac.uk)
We propose that a modifier gene close to Apc or structural variation on chromosome 18 modifies polyp numbers in our mice, possibly by altering the frequency of WT Apc allele loss. (ox.ac.uk)
Most affected individuals are missing a small amount of genetic material, including the KANSL1 gene, from one copy of chromosome 17 . (medlineplus.gov)
A small number of individuals with Koolen-de Vries syndrome do not have a chromosome 17 microdeletion but instead have a mutation within the KANSL1 gene that causes one copy of the gene to be nonfunctional. (medlineplus.gov)

The most well-established is the modifier of Min locus (Mom1). (wikipedia.org)
The genes are strung together in a particular sequence or order and the position occupied by a particular gene is referred to as a locus , which is simply the location of the gene in relation to all of the other genes of the individual, analogous to a specific address on a street. (vin.com)
Linkage mapping in (B6x129).Hdh Q111 F2 intercross animals identified a single quantitative trait locus underlying the strain-specific difference in expansion in the striatum, implicating mismatch repair (MMR) gene Mlh1 as the most likely candidate modifier. (elsevierpure.com)
The inheritance of basic horse colours black, bay and chestnut is determined by two different gene loci (the Extension and the Agouti locus). (genecontrol.de)
The Extension locus (E) corresponds to the melanocortin-1 receptor gene which accounts for the different melanin types. (genecontrol.de)
This observation, the variable expressivity, and poor genotype-phenotype correlation led us to test several hypotheses including modifying haplotypes, oligogenic inheritance, or locus heterogeneity in SIOD. (eur.nl)
Detection of phenotype modifier genes using two-locus linkage analysis in complex disorders such as major psychosis. (ulaval.ca)
Compared to a single-locus analysis within the broad phenotype, the proposed approach had greater power to detect the modifier gene 2 (0.96 vs. 0.54 under a simulation scenario including heterogeneity). (ulaval.ca)

The database was structured using the Genomics Unified Schema and contains a variety of tools that permits fast analysis by similarity searches, protein characteristics, keywords, ontology annotation and other types of data such as gene transcription profiles. (bibalex.org)
HMEs act as key protein modifiers that influence gene expression by regulating chromatin structure and are involved in a number of human diseases. (bibalex.org)
To identify targets of interest genes were invalidated by RNAi, protein structures were determined and enzymatic assays developed to test new compounds. (bibalex.org)
The investigational compounds used in this study represent the first orally available SMN2 splicing modifiers for SMA," commented Stuart W. Peltz, CEO of PTC Therapeutics, Inc. "Using the experience and expertise in RNA biology we have gained at PTC over the last 16 years, we used our alternative splicing technology to identify and subsequently optimize investigational compounds that target the SMN2 splicing to produce the SMN protein. (medindia.net)
The SMN2 splicing modifiers described in the Science article penetrated into all mouse tissues tested, including brain, spinal cord and muscle, and thus improved SMN2 RNA splicing to increase SMN protein production in these disease-relevant tissues. (medindia.net)
In response to LPS, NPSR1-A protein levels in monocytes were upregulated (p = 0.002), as were NPSR1-A mRNA levels (p = 0.02).Conclusions: The effect of farm animal contact on the development of allergic symptoms in children is modified by NPSR1 genetic background. (uni-muenchen.de)
Together, these data identify Mlh1 and Mlh3 as novel critical genetic modifiers of HTT CAG instability, point to Mlh1 genetic variation as the likely source of the instability difference in B6 and 129 strains and suggest that MLH1 protein levels play an important role in driving of the efficiency of somatic expansions. (elsevierpure.com)
Meconium ileus (MI), a life-threatening intestinal obstruction due to meconium with abnormal protein content, occurs in approximately 15 percent of neonates with cystic fibrosis (CF). Analysis of twins with CF demonstrates that MI is a highly heritable trait, indicating that genetic modifiers are largely responsible for this complication. (ku.edu)
The genetic study showed promising results in "silencing" the genes that translate into tau protein, the primary component behind dementia. (medicaldaily.com)
Jurkat, CEM, and TF-1a cell lines were transduced with a lentiviral vector that expresses GCLM and green fluorescent protein (GFP) genes (Fig. 2A). (seraphinstitute.org)
Increased HDAC activity can lead to imbalance in protein acetylation resulting in hypoacetylation, tight chromatin structure and suppression of various genes. (researchbib.com)
The KANSL1 gene provides instructions for making a protein that helps regulate gene activity (expression) by modifying chromatin . (medlineplus.gov)
The protein produced from the KANSL1 gene is found in most organs and tissues of the body before birth and throughout life. (medlineplus.gov)
By its involvement in controlling the activity of other genes, this protein plays an important role in the development and function of many parts of the body. (medlineplus.gov)

The results of a preclinical study demonstrates that treatment with orally available RNA splicing modifiers of the SMN2 gene starting early after birth is preventing deficits in a mouse model of Spinal Muscular Atrophy (SMA). (medindia.net)
Although still preclinical, these results demonstrate how SMN2 splicing modifiers could correct the molecular deficit that causes SMA," said Luca Santarelli, Head of Neuroscience, Ophthalmology and Rare Diseases at Roche. (medindia.net)
if present in multiple copies, SMN2 may modify the severity of the disease and explain phenotypic differences between children with SMA. (msdmanuals.com)

The CAG repeat number in TBP normal alleles appeared to modify the presence of dystonia in SCA1. (nih.gov)
Together these studies exploiting gene editing to functionally dissect the Col17a1 modifier demonstrate the importance of epistatic interactions between a primary disease-causing mutation in one gene and innocuous 'healthy' alleles in other genes. (bvsalud.org)

The strategy is to study the clinical measurements of HFpEF and HFrEF and their comorbid conditions available in UK Biobank data and further conduct cross-phenotype or phenotype-modifying genetic study. (ukbiobank.ac.uk)
Complex genetic interactions among repeat expansion genes can lead to diverse clinical symptoms and progression in SCAs. (nih.gov)
We discuss the underlying mechanisms, clinical implications, and the challenges associated with deciphering the contribution of multiple genes in the development and manifestation of such disorders. (e-kjgm.org)
The heterogeneous risk among carriers suggests other genetic modifiers could exist.MethodsWe analysed clinical, genotype and gene expression data derived from paediatric ACC, R337H carriers, and adult ACC patients. (ox.ac.uk)
AD is a genetic and sporadic neurodegenerative disease that is a common cause of cognitive impairment acquired in midlife and in late life, but its clinical impact is modified by other neurodegenerative and cerebrovascular conditions. (medscape.com)

It allows users to obtain, visualize and prioritize molecular interaction networks using HD-relevant gene expression, phenotypic and other types of data obtained from human samples or model organisms. (nature.com)
In order to identify genes that may modify disease onset and progression, genome-wide association and gene expression studies have been performed 12 , 13 . (nature.com)
Silencing of the miR-152 gene due to promoter DNA methylation alter the expression pattern of several other genes. (nitrkl.ac.in)
Increased expression GCL modifier subunit alone confers substantial chemoprotection against busulfan. (seraphinstitute.org)
Increased expression GCL modifier subunit alone confers substantial chemoprotection against busulfan at multiple varying doses and times of exposure. (seraphinstitute.org)
This indicates that GCLM transgene expression could be used for busulfan protection, hence selection of genetically modified cells. (seraphinstitute.org)
Excessive stimulation of the TLR4 axis through LPS reduces the expression of some cytokine genes in immune cells, while stimulating the expression of immune defense genes during a subsequent bacterial infection. (uni-muenchen.de)
Pre-incubation of MEC with Pam2CSK4 enhanced baseline and induced expression of bactericidal (beta-defensin;SLPI) and membrane protecting factors (SAA3, TGM3), while reducing the expression of cytokine-and chemokine-encoding genes (TNF, IL1 beta) after a subsequent pathogen challenge, the latter, however, not as efficiently as after LPS priming. (uni-muenchen.de)
Balanced activity of HATs and HDACS is essential for normal gene expression. (researchbib.com)
This SNP resides in a gene involved in the retinoic acid (RA) pathway and patients with differing levels of RA pathway gene expression in their tumours associate with differential ACC progression.ConclusionsThese results identify a novel genetic component to ACC development that resides in the retinoic acid pathway, thereby informing strategies to develop management, preventive and therapeutic treatments for ACC. (ox.ac.uk)
It refers to the study of gene expression and the possible alterations that can be caused by factors others than DNA modification. (cellnutrition.co.uk)
You can modify a lot about yourself (your gene expression) without changing your DNA (which you can't change). (cellnutrition.co.uk)
How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? (lu.se)

Single nucleotide polymorphisms (SNPs) in various genes have been shown to associate with COPD, suggesting a role in disease pathogenesis. (lu.se)
The Huntington's disease gene (HTT) CAG repeat mutation undergoes somatic expansion that correlates with pathogenesis. (elsevierpure.com)

Depending on the genotype of the mating partner, carriers of the red factor (i.e. animals with gene status Ee or ee) can produce reddish coloured offspring. (genecontrol.de)
Homozygous tobianos (TO/TO) pass on the gene independently of the mating partner's genotype which results in tobiano spotted offspring, exclusively. (genecontrol.de)

Multiple Quantitative Trait Loci Modify Cochlear Hair Cell Degeneration in the Beethoven (Tmc1Bth) Mouse Model of Progressive Hearing Loss DFNA36. (jax.org)
Genetic polymorphisms in Quantitative Trait Loci (QTL) genes such as BCL11A, HBS1L-MYB and KLF1 have been reported to influence fetal hemoglobin (HbF) levels. (mdpi.com)
Although an sgRNA design consisting of a truncated crRNA and tracrRNA had been previously shown to mediate efficient cleavage in vitro 12 , it failed to achieve detectable cleavage at several loci that were efficiently modified by crRNA-tracrRNA duplexes bearing identical guide sequences 1 . (cdc.gov)
Furthermore, both sgRNA designs efficiently modified PVALB loci that were previously not targetable using crRNA-tracrRNA duplexes 1 ( Fig. 1b and Supplementary Fig. 1b ). (cdc.gov)

Chromosomal damage and polymorphisms of DNA repair genes XRCC1 and XRCC3 in workers exposed to chromium. (nel.edu)
Our study investigates chromosomal damage related to chromium exposure, considering the role of polymorphisms in relevant DNA repair genes. (nel.edu)
DNA repair gene polymorphisms were determined by Real-Time allelic discrimination assay. (nel.edu)
Polymorphisms in XRCC3 gene did not modulate the frequencies of CAs, CTAs and CSAs. (nel.edu)
Halasova E, Matakova T, Musak L, Polakova V, Vodicka P. Chromosomal damage and polymorphisms of DNA repair genes XRCC1 and XRCC3 in workers exposed to chromium. (nel.edu)
We restricted our analyses to single nucleotide polymorphisms (SNPs) previously identified in GWASs to associate with disease or human traits.ResultsA SNP, rs971074, in the alcohol dehydrogenase 7 gene significantly and reproducibly associated with allelic differences in ACC age-of-onset in both cohorts. (ox.ac.uk)
This prospective study was planned to evaluate the role of genetic polymorphisms in QTL genes as determinant of HbF levels in beta thalassemia major patients. (mdpi.com)
Recent advances have been made in the of host factors, polymorphisms, and candidate genes associated characterization of the immune response to low-molecular- with occupational asthma may improve our understanding of weight agents. (cdc.gov)

In a sample of 12 mixed SZ and BP Eastern Quebec kindreds, D8S1110 at 8p22 showed the strongest evidence of linkage to a gene determining a specific phenotype (SZ or BP) among subjects susceptible to major psychosis because of putative genes at 10p13 (D10S245, conditional maximized LOD (cMOD) = 4.20, p = 0.0003) and 3q21-q23 (D3S2418, cMOD = 4.09, p = 0.0005). (ulaval.ca)
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease. (lu.se)

With mouse models, Cox can mix their genomes and map and identify modifier genes that can impact the onset and severity of different diseases. (jax.org)

In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). (escholarship.org)
ConclusionsThe present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers. (escholarship.org)
Whether height or body mass index (BMI) modifies breast cancer risk in BRCA1/2 mutation carriers remains unclear. (escholarship.org)
We used Mendelian randomization approaches to evaluate the association of height and BMI on breast cancer risk, using data from the Consortium of Investigators of Modifiers of BRCA1/2 with 14 676 BRCA1 and 7912 BRCA2 mutation carriers, including 11 451 cases of breast cancer. (escholarship.org)

Mom1) modifying adenoma numbers in the intestines of inbred strains. (ox.ac.uk)

In a malformation such as cleft palate, for example, it is important to distinguish between effects of a recessive gene and problems caused by a teratogen (agent causing birth defects) such as steroids. (vin.com)

They have added this to their toolkit of compounds which change the levels of important targets in HD including total huntingtin, toxic specific and MSH3, a genetic modifier of HD. (huntingtonsnswact.org.au)

Hdh Q111 somatic expansion was also abolished in mice deficient in the Mlh3 gene, implicating MutLγ (MLH1-MLH3) complex as a key driver of somatic expansion. (elsevierpure.com)

It occupies a particular position on one of the chromosomes, each of which is essentially a long chain of functional genes interspersed with regions of DNA which does not appear to code for specific traits. (vin.com)
The order of the genes is constant and does not usually change unless there is a break in the DNA strand and subsequent reattachment of the segment in a different location, a process resulting in changes such as those which cytogeneticists (scientists and technologists who study chromosomes) refer to as translocations and inversions. (vin.com)

Integrative genetic analysis illuminates ALS heritability and identifies risk genes. (cdc.gov)

Another gene involved in DNA mismatch repair is Msh6. (wikipedia.org)

In addition, a universal primer set previously reported to amplify all eight gene segments was modified by adding a 13 bp in length of flanking sequence (5-ACGACGGGCGACA-3) at the 5 end of each primer to enhance the annealing temperature and achieve high fidelity and yield in PCR amplification. (cdc.gov)

Remarkable progress has been made in deciphering disease etiology through genetic approaches, but there is limited data about how environmental and genetic factors interact to modify penetrance, risk, and disease severity. (lu.se)

Huntington's disease (HD) is a progressive and fatal neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene. (nature.com)
This aberrant suppression of genes is the hallmark of several malignant and other diseases including neurodegenerative disorders. (researchbib.com)

An exciting new area linking experiences with behavior and biology is the field of epigenetics, which involves chemical modifiers that act as traffic signals to help modify the turning on or off of genes. (asu.edu)

Mouse models of colorectal cancer and intestinal cancer are experimental systems in which mice are genetically manipulated, fed a modified diet, or challenged with chemicals to develop malignancies in the gastrointestinal tract. (wikipedia.org)
CDH1 gene is downregulated by promoter DNA methylation during cancer progression. (nitrkl.ac.in)
H3K4 trimethylation is an active gene mark present in various oncogenes during cancer progression. (nitrkl.ac.in)
Studies link a gene cluster encoding for alpha 3 beta 4 alpha 5-D398N nicotinic acetylcholine receptors to lung cancer risk as well as link a second mutation in this cluster to an increased risk for nicotine dependence. (rti.org)
These studies identify pharmacological tools from two distinct classes of drugs, antagonists and modifiers that are alpha 5 and alpha 5-D398N subtype selective that provide a means to characterize the role of the CHRNAS/A3/B4 gene cluster in smoking and cancer. (rti.org)
orthogonal exPeriMental changes and pathways induced by EGE investigated the impact of aSSeSSMent of ePigenetic environmental factors in cancer causation, both current H. pylori infection and driver geneS and their link to underpinning studies of etiology e , pigenetic memory of past (eradicated) environMental carcinogenS carcinogen evaluation, and prevention. (who.int)
Food selection based on TAC of foods may be an effective strategy to modify the risk of cancer. (who.int)
RÉSUMÉ Des données de plus en plus nombreuses indiquent que les antioxydants alimentaires ont des effets favorables sur la réduction du risque de cancer. (who.int)
La sélection des aliments à partir de leur capacité antioxydante totale peut être une stratégie efficace pour modifier le risque de cancer. (who.int)

A genetic analysis of some FAP kindreds revealed that a common feature of the disease is a deletion of the APC gene. (wikipedia.org)
We aren't just a single gene functioning (or not functioning, in the case of disease), it's the combination of all of our genes," he said. (jax.org)
We're hoping that identifying these modifier genes can give us insight into how to modify the disease. (jax.org)
SMA is a genetic disease caused by mutation or deletion of the SMN1 (survival of motor neuron) gene. (medindia.net)
Fetal hemoglobin (HbF) is a major disease modifier, and is associated with a reduction in the occurrence of several complications such as VOC, ACS, and death. (haematologica.org)
5 However, most SCD patients have lower HbF levels while not receiving disease-modifying therapy, and for some complications, such as stroke, the risk reduction associated with HbF has not been quantified in large cohorts. (haematologica.org)
We further show that large in-frame indels removing up to 1482 bp and 169 AA of NC6 through NC1 domains are surprisingly disease free on their own but can be very potent modifiers of Lamc2jeb/jeb JEB. (bvsalud.org)
Depending on external factors, such as lifestyle choices, diet etc, you may have the gene for a disease but never develop such disease. (cellnutrition.co.uk)
Treatment for RA usually includes the use of medications that slow disease and prevent joint deformity, called disease-modifying antirheumatic drugs (DMARDs). (cdc.gov)

Traditionally, monogenic disorders have been considered as relatively straightforward genetic conditions, where a mutation in a single gene is sufficient to cause the observed phenotype. (e-kjgm.org)

Because risk factors, both modifiable (weight and other lifestyle choices) and non-modifiable (age, family history or inherited genes) vary widely, prevention needs to be individualized. (bcrf.org)
The current study utilizes TALEN and CRISPR/Cas9 induced amino acid replacements and in-frame indels nested to NC4 to further investigate the role of this and adjoining COLXVII domains both as modifiers and primary risk effectors. (bvsalud.org)

SUMO1 may also regulate a network of genes involved in palate development. (thermofisher.com)

Research has shown that one's experiences and exposures alter how genes are expressed through epigenetics. (asu.edu)

Food, lifestyle and emotional aspects are all relevant modifiers of these characteristics which are described in general as your phenotype . (cellnutrition.co.uk)

The first mouse mutant in the Apc gene came from a colony of randomly mutagenized mice. (wikipedia.org)
Previous work strongly implicated Collagen 17a1 (Col17a1) as a potent genetic modifier of junctional epidermolysis bullosa (JEB) caused by a hypomorphic mutation (Lamc2jeb) in mice. (bvsalud.org)

120 known sequences of HA and NA genes of different subtypes were selected from 500 hit count analyses of each gene covering sequences of viruses from different geographic regions (i.e. (cdc.gov)

SmHDAC8 gene silencing resulted in reduced worm and egg numbers. (bibalex.org)
Gene silencing of SmRas, SmERK1, SmERK2, SmJNK and SmCaMK2 indicated that those in the MAPK pathway are important for parasite development and reproduction. (bibalex.org)

The large number of genes and the diversity of processes involved in the progression of neurological diseases in general, and HD in specific, emphasizes the need for comprehensive approaches in additional to studies of individual genes 14 . (nature.com)

These genes play an important role in repairing incorrectly positioned nucleotides. (wikipedia.org)
The T-box gene family is a group of related genes that play a critical role in human embryonic development. (medscape.com)

Nd1 - the non-dun1 allele is caused by a single nucleotide polymorphism in the TBX3 gene. (genecontrol.de)
Nd2 - the non-dun2 allele is caused by a complex deletion of bases in the TBX3 gene. (genecontrol.de)

Modifiers of somatic expansion may therefore provide routes for therapies targeting the underlying mutation, an approach that is likely applicable to other trinucleotide repeat diseases. (elsevierpure.com)

We don't know what we don't know yet," Lewis said, "but your experiences have the ability to alter you at the molecular level that changes downstream gene transcription in a way that changes brain structure, function and behavior. (asu.edu)

35) in the first exon of the huntingtin ( HTT , IT15 ) gene 1 . (nature.com)

We evaluated whether increasing the GCL enzymatic activity through overexpressing its modifier subunit GCLM would confer protection against busulfan toxicity in vitro. (seraphinstitute.org)

The conditional stabilizing mutation in the beta-catenin gene caused formation of up to 3000 polyps in the small intestine of this mouse model. (wikipedia.org)

Anatomy15

Organisms20

Diseases22

Chemicals and Drugs83

Analytical, Diagnostic and Therapeutic Techniques and Equipment30

Psychiatry and Psychology3

Phenomena and Processes87

Technology, Industry, Agriculture1

Humanities1

Information Science3

Health Care11

Mutations24

Epigenetic modifiers3

Proteins5

Variability3

Histone7

Susceptibility4

Variants3

Chromosome6

Locus8

Protein14

SMN23

Alleles2

Clinical5

Expression13

Pathogenesis2

Genotype2

Loci4

Polymorphisms8

Putative2

Onset1

BRCA14

Mom11

Recessive gene1

MSH31

MLH11

Chromosomes2

Integrative1

Mismatch repair1

Flanking sequence1

Severity1

Neurodegenerative2

Biology1

Cancer9

Disease9

Single gene1

Risk2

Regulate1

Epigenetics1

Phenotype1

Mice2

Analyses1

Silencing2

Progression1

Role2

Allele2

Somatic1

Molecular1

Huntingtin1

Toxicity1

Conditional1