Pathogenesis genes modifier. Medical search. Frequent questions

Mutations in ras genes can cause permanent activation of ras proteins. (medscape.com)
The NF1 phenotype results from loss-of-function mutations of the NF1 gene and, therefore, the absence of neurofibromin 1. (medscape.com)
Mutations that have been observed in the NF1 gene include stop mutations, amino acid substitutions, insertions, deletions (partial or whole), and gross chromosomal rearrangements. (medscape.com)
Our laboratory uses genetic, cell biological, and biochemical approaches to explore the pathogenesis of polyglutamine neurodegenerative diseases, the function of Math1 in neurodevelopment, and how MECP2 mutations cause postnatal neurodevelopmental disorders. (bcm.edu)
BACKGROUND:Familial cerebral cavernous malformation type 1 (CCM1) is an autosomal dominant disease caused by mutations in the Krev Interaction Trapped 1 (KRIT1/CCM1) gene, and characterized by multiple brain lesions that often result in intracerebral hemorrhage (ICH), seizures, and neurological deficits. (kaiserpermanente.org)
The observation of pleiotropy has emerged, with mutations in the same gene giving rise to diverse phenotypes, which further increases the complexity of phenotype-genotype correlation. (biomedcentral.com)
Possible mechanisms of pleiotropy include different downstream effects of different mutations in the same gene, presence of modifier genes, and oligogenic inheritance. (biomedcentral.com)
Furthermore, the tissue specificity of these pathogenic mtDNA mutations might be associated with tRNA metabolism and nuclear modifier genes. (chinagene.cn)
9] Schon EA, Bonilla E, DiMauro S. Mitochondrial DNA mutations and pathogenesis. (chinagene.cn)
Genetic etiology of PE is mutations on SCN9A , the encoding gene of a voltage-gated sodium channel subtype Nav1.7. (biomedcentral.com)
This review mainly focuses on PE and the causative gene SCN9A -- its mutations and their effects on Nav1.7 channels' electrophysiological properties. (biomedcentral.com)
PE is exclusively caused by mutations in SCN9A , the encoding gene of sodium channel subtype Nav1.7 and can be sub-classified into familial (inherited erythromelalgia) and sporadic forms. (biomedcentral.com)
X-linked retinoschisis (XLRS) is an inherited retinal disorder caused by mutations in the RS1 gene and characterized by a splitting of the neural retina which will eventually lead to decrease vision. (institut-vision.org)
Rarely, women with pathogenic mutations on both alleles of the gene have been reported. (institut-vision.org)
Even in the case of monogenic disorders which result from mutations within single and well-defined disease-causing genes, disease symptoms can vary dramatically. (precisionmedicine.org.il)
This divergence is often thought to result from genetics modifiers (variations in DNA sequence that can modulate the phenotypic manifestations of a disease-causing mutations present in an independent target gene) and/or epigenetic (processes that alter gene function but do not entail changes in the DNA sequence) mechanisms that control disease manifestations. (precisionmedicine.org.il)
At present, mutations in over 50 genes have been shown to contribute to the ALS pathogenesis [ 8 ] [ 9 ] . (encyclopedia.pub)
1 Mutations in regulators of the epigenome have been identified in cancer that have roles such as 'writers', 'readers', 'erasers' or 'editors' and have the potential to deregulate the expression of hundreds of genes genome-wide. (touchoncology.com)
They include sporadic cases of unknown origin, a genetic form linked to mutations in the prion protein gene, PRNP , and an infectious form acquired through medical procedures or contaminated food. (biomedcentral.com)
Strikingly, in 7 patients, apparent germline variants were detected at COSMIC codons in one or more PV-related genes in which we had also discovered somatic mutations across the cohort, suggesting that some pre- JAK2 V617F mutations contribute to substantial T-lymphocyte progeny. (bcm.edu)
Variants (also known as mutations) in the SERPINA1 gene cause alpha-1 antitrypsin deficiency. (medlineplus.gov)
They discuss the genetic mutations and modifiers that underlie disease development and progression, the gene expression patterns that characterize them, and how this information is being used for medical applications. (cshlpress.com)
Finally, it seems appropriate to consider the "sodium channel syndrome" (mutations in the gene of the α subunit of the sodium channel, SCN5A gene) as a single clinical entity that may manifest in a wide range of phenotypes, to thus have a better insight on these cardiac syndromes and potential outcomes for their clinical treatment. (bvsalud.org)

The goal of our laboratory is to elucidate the susceptibility genes and modifier genes of these diseases to elucidate their pathogenesis. (riken.jp)
Interestingly, the first genome-wide CRISPR interference/activation screens to discover susceptibility genes of oxidative stress in induced pluripotent stem cell (iPSC)-derived human neurons identified PSAP. (nature.com)
This model was developed using data collected from molecular epidemiology studies of allergic asthma that examined variants in 16 susceptibility genes. (cdc.gov)

Neurofibromatosis type 1 (NF1), also known as peripheral neurofibromatosis or von Recklinghausen disease, is an autosomal dominant genetic condition caused by a mutation in or a deletion of the NF1 gene. (medscape.com)
The NF1 gene locus has a higher spontaneous mutation rate than do most gene loci. (medscape.com)
The NF1 phenotype is highly penetrant (ie, almost all individuals with an NF1 gene mutation have some phenotypic traits of the syndrome). (medscape.com)
The research team used the high-quality phenotypic data from the intensively studied TRACK-HD cohort of people with the HD gene mutation. (neurodegenerationresearch.eu)
The genetic signal is likely to be driven by the gene MSH3, a DNA repair gene which has been linked to changes in size of the HD mutation. (neurodegenerationresearch.eu)
Carriers of the same genetic mutation can present with variable symptoms and severity of disease, suggesting the influence of modifier factors. (kaiserpermanente.org)
The purpose of this study was to investigate whether common variants in inflammatory and immune response genes influence the severity of familial CCM1 disease, as manifested by ICH and greater brain lesion count.METHODS:Hispanic CCM1 patients (n=188) harboring the founder Q455X 'common Hispanic mutation' (CHM) in the KRIT1 gene were analyzed at baseline. (kaiserpermanente.org)
The Huntington's disease gene (HTT) CAG repeat mutation undergoes somatic expansion that correlates with pathogenesis. (elsevierpure.com)
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)
Variation in disease presentation, severity and progression is typical, and is observed even within the same family or among individuals who carry the same mutation in the causative gene. (institut-vision.org)
A paired box gene 6 ( PAX6 ) missense mutation, p.T391A, has been described in a patient with bilateral ONA, nystagmus, and normal anterior eye segments. (molvis.org)
Resistance was due to a mutation in the nsy-1 gene, orthologous to the mammalian ASK-1 MAPKKK. (stanford.edu)
Forty two percent of patients had a somatic mutation in at least one epigenetic modifier gene. (bcm.edu)
MEditerranean FeVer (MEFV) gene frequency and the prevalence of heterozygous carriers of one of MEFV mutation in Armenian population are rather high: 0.21 (1:5). (pdfslide.net)

To date, a number of modifier loci and associated genes have been implicated and several polymorphic variants have been proposed as risk factors for developing SALS. (bmj.com)
Quantitative trait loci affecting the 3D skull shape and size in mouse and prioritization of candidate genes in-silico. (genscript.com)
It is a highly heterogeneous group of disorders, with more than 80 genes or loci implicated [ 3 ]. (biomedcentral.com)
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)
CAG) loci as genetic modifiers of age at onset in patients with spinocerebellar ataxia type 1 from mainland China. (cdc.gov)

Oxidative stress plays a major role in the pathogenesis of interstitial lung diseases. (cdc.gov)
With the plethora of new genes being identified, genetic rather than phenotype-based classification of Mendelian diseases such as spinocerebellar ataxia (SCA), hereditary spastic paraplegia (HSP) and Charcot-Marie-Tooth disease (CMT) has become widely accepted. (biomedcentral.com)
It has also become clear that gene variants play a role in common and predominantly sporadic neurodegenerative diseases such as Parkinson's disease (PD) and amyotrophic lateral sclerosis (ALS). (biomedcentral.com)
However, the pathogenesis of autoimmune diseases has not been clearly elucidated. (frontiersin.org)
In each of these diseases, genes that play a role in the proliferation or activation of CD8+ T cells have been found to be affected by epigenetic modifications. (frontiersin.org)
MiRNAs also play a role in the pathogenesis of these diseases and several known miRNAs that are involved in these diseases have also been shown to play a role in CD8+ regulation. (frontiersin.org)
It is becoming evident that both the innate and the adaptive immune response are involved in the pathogenesis of autoimmune diseases ( 4 ), especially adaptive immune response. (frontiersin.org)
However, mounting evidence has suggested that CD8+ T cells, in particular, play an important role in the induction, progression, pathogenesis, and protection for autoimmune diseases ( 5 ). (frontiersin.org)
Here we propose to study this phenomenon in monogenic skin diseases were preliminary evidence pointing at the importance and possible contribution of genetic and epigenetic modifier mechanisms to phenotypic expression. (precisionmedicine.org.il)
Should this project be successful, it is likely to significantly broaden our understanding of disease pathogenesis and clinical manifestations as well as lead to improved innovative approaches to diagnosis and treatment of skin and other diseases. (precisionmedicine.org.il)
In particular, the authors describe impressive advances in gene therapy treatments for retinal diseases, some of which have led to clinical success. (cshlpress.com)

Transcription of inflammatory genes in innate immune cells is coordinately regulated by transcription factors, including NF-κB, and chromatin modifiers. (cnrs.fr)
We identified an IDH mutant-enriched subtype with distinct molecular features including low expression of chromatin modifiers, elevated expression of mitochondrial genes, and increased mitochondrial DNA copy number. (elsevierpure.com)

[ 1 ] Patients with NF1 who have a whole NF1 gene deletion (about 4-5% of individuals with NF1) appear to develop a more severe phenotype than do patients with a partial gene deletion. (medscape.com)
Future directions include development of bioinformatics tools and establishment of more extensive public genotype/phenotype databases to better distinguish deleterious gene variants from benign polymorphisms, translation of genetic findings into pathogenic mechanisms through in-vitro and in-vivo studies, and ultimately finding disease-modifying therapies for neurodegenerative disorders. (biomedcentral.com)
4 The severity of the SMA depends largely on the number of copies of SMN2 , a lower number of copies being associated with a more severe phenotype, 5 yet several exceptions and other genetic modifiers have been reported. (dovepress.com)
By genetic suppressor screening of the small-body phenotype of a cilium defective mutant, we identified a chb-3 gene. (stanford.edu)
We have developed a novel algorithm (PVP) which augments existing strategies by using the similarity of the patients phenotype to known phenotype-genotype data in human and model organism databases to further rank potential candidate genes. (plos.org)
Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. (medscape.com)
Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome. (cdc.gov)

Over 1000 pathogenic allelic variants of the gene have been identified. (medscape.com)
We analyzed 830 variants in 56 inflammatory and immune response genes for association with ICH and residuals of log-transformed total or large lesion count adjusted for age at enrollment and gender. (kaiserpermanente.org)
The advent of next generation sequencing (NGS) has allowed for a system-wide, unbiased approach to identify all gene variants in the genome simultaneously. (biomedcentral.com)
Accordingly, routine diagnostic tests should encompass the oldest and most frequently mutated ALS genes as well as several new important genetic variants in ALS. (encyclopedia.pub)
Variants in the SERPINA1 gene can lead to a shortage (deficiency) of alpha-1 antitrypsin or an abnormal form of the protein that cannot control neutrophil elastase. (medlineplus.gov)
In light of this, a multiplicative gene-gene interaction model was developed to allow for estimating the combinatorial contribution of multiple genetic variants to disease risk. (cdc.gov)

The antioxidant enzymes glutathione S-transferases (GST) and manganese superoxide dismutase (MnSOD) are important components of lung defence against oxidative stress, and polymorphisms in the genes which regulate their expression may represent important disease modifiers. (cdc.gov)
Several studies have identified oxidative stress, glutamate excitotoxicity, apoptosis, neurofilament dysfunction, protein misfolding and aggregation, impairment of RNA processing, disrupted axonal transport, endosomal trafficking dysfunction, inflammation, and mitochondrial impairment as the molecular pathways which lead to the disease and indicate ALS pathogenesis. (encyclopedia.pub)

These genes were selected based on their role in asthmatic inflammatory processes and History previously reported associations with asthma phenotypes. (cdc.gov)
Of these mediators, cytokines play a single nucleotide polymorphisms (SNP) in pro-inflammatory cytokine genes and asthma phenotypes (Che et al. (cdc.gov)

By recruiting SWI/SNF chromatin remodellers to IκB-ζ, transcriptional coactivator for NF-κB, the conserved nuclear protein Akirin2 stimulates pro-inflammatory gene promoters in mouse macrophages during innate immune responses to viral or bacterial infection. (cnrs.fr)

Recognizing the importance of protein interactions for mediating SCA1 pathogenesis, and given that SCA1 shares clinical and pathological features with several other inherited ataxias, we proposed that understanding the interactions of Ataxin-1 as they relate to the interactions of proteins implicated in other ataxias might provide better insight about molecular mechanisms leading to Purkinje cell degeneration and ataxia. (bcm.edu)
Many hypotheses exist for the underlying molecular mechanisms and key genes responsible for root skewing and root waving. (biomedcentral.com)
Our studies reveal insights into the molecular pathogenesis and heterogeneity of cholangiocarcinoma and provide classification information of potential therapeutic significance. (elsevierpure.com)

The causative gene for PE, SCN9A , encodes a voltage-gated sodium channel (VGSC) subtype Nav1.7. (biomedcentral.com)
In 1993, the first causative gene ( SOD1 ) of fALS was identified. (encyclopedia.pub)

However since the aetiology apart from the identification of some genes associated with the disease remains largely unknown causal treatment is basically unavailable. (bibf1120.com)

A major focus of Dr. Steve Hersch's research is to understand the role of the huntingtin protein in the pathogenesis of Huntington's disease. (massgeneral.org)

Protein MTO1 homolog, mitochondrial is a protein that in humans is encoded by the MTO1 gene. (wikipedia.org)
The NF1 gene product is a cytoplasmic protein called neurofibromin 1, which appears to have diverse functions in many different tissues. (medscape.com)
The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. (cancerindex.org)
What does this gene/protein do? (cancerindex.org)
What pathways are this gene/protein implicaed in? (cancerindex.org)
This led us to propose that protein misfolding or impaired protein clearance might be critical in SCA1 pathogenesis. (bcm.edu)
This model predicts that most proteins that interact with wild-type Ataxin-1 should interact with the mutant protein and that modifications of Ataxin-1 that might alter its conformation are critical to pathogenesis. (bcm.edu)
Conflicting results also concern the frequency of the association between the two protein misfolding disorders and the issue of whether the apolipoprotein E gene ( APOE ) and the prion protein gene ( PRNP ), the major modifiers of Aβ- and PrP-related pathologies, also have a pathogenic role in other proteinopathies, including tau neurofibrillary degeneration. (biomedcentral.com)
This gene provides instructions for making a protein called alpha-1 antitrypsin, which protects the body from a powerful enzyme called neutrophil elastase. (medlineplus.gov)

Future work is needed to elucidate the potential role of these candidate genes during root skewing. (biomedcentral.com)

in both conditions, however, the altered gene products have an important role in the dysregulation of tumor suppression. (medscape.com)
Single nucleotide polymorphisms (SNPs) in various genes have been shown to associate with COPD, suggesting a role in disease pathogenesis. (lu.se)
Evidence is emerging that inflammation and immune response play a role in the pathogenesis of CCM. (kaiserpermanente.org)
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)
We used the zebrafish pronephros model to study the role of epigenetic modifiers in the immediate repair response after injury to the tubular epithelium. (nih.gov)
Although involvement of other genetic factors cannot be ruled out, our study might point to a role of CYP26A1 and CYP26C1 in the pathogenesis of nonsyndromic ONA. (molvis.org)
NSY-1 is in the highly conserved p38 MAP kinase pathway, which plays a crucial role in C. elegans innate immunity, suggesting that this pathway may play a role in biogenic amine toxicity system damage due to amphetamines and in the pathogenesis of Parkinson's disease in higher organisms. (stanford.edu)

Atopic Dermatitis (Eczema) Atopic dermatitis is a chronic relapsing inflammatory skin disorder with a complex pathogenesis involving genetic susceptibility, immunologic and epidermal barrier dysfunction, and environmental. (msdmanuals.com)

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)
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)

Recent several large genome-wide association studies (GWAS) based on Caucasians have identified numbers of several risk genes that may affect LOAD susceptibility [ 4 , 5 ]. (oncotarget.com)

Given the highly penetrant nature of NF1, individuals who have an altered NF1 gene will eventually present with some clinical feature of this neurocutaneous syndrome and are at an increased risk of developing benign and/or malignant tumors. (medscape.com)
The phase 1 VAN-2201 clinical trial (NCT05657301) is assessing the AAV-delivered gene therapy from Chengdu Origen Biotechnology and Vanotech in 5 dose cohorts of 25 total patients. (cgtlive.com)
Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. (medscape.com)
Here we review single gene disorders that have the potential to mimic multiple sclerosis, provide an overview of clinical and investigational characteristics of each disorder, and present guidelines for when clinicians should suspect an underlying heritable disorder that requires diagnostic confirmation in a patient with a definite or probable diagnosis of multiple sclerosis. (medscape.com)

The researchers identified that a variation in MSH3 encodes an amino acid change in the gene. (neurodegenerationresearch.eu)
MSH3 has previously been extensively implicated in the pathogenesis of HD in both mouse and cell studies. (neurodegenerationresearch.eu)

Epigenetics encompasses heritable changes in the pattern of gene expression mediated by mechanisms other than alterations in primary nucleotide sequence. (touchoncology.com)

The laboratory focuses on targeting host factors to generate broad spectrum antivirals and disease pathogenesis modifiers. (rgcb.res.in)
Studies look at identifying interferon-stimulated genes (ISGs) and their modulators as antivirals against Chikungunya as well as elucidating key molecules involved in vascular endothelial leakage as disease modifiers in severe dengue. (rgcb.res.in)
Unfortunately, very little is currently known about the nature of these modifiers and this knowledge is instrumental for developing a personalized approach to disease medical management. (precisionmedicine.org.il)
With rapid advances in genetics, over fifty potentially causative or disease-modifying genes have been found in ALS so far. (encyclopedia.pub)
There have been substantial advances in the understanding of the disease pathogenesis which has led to important improvements Mouse monoclonal to GYS1 in the treatment of RA most notably the introduction of biological disease modifiers such as tumor necrosis factor-α (TNF-α) inhibitors [3]. (bibf1120.com)
A variety of both genetic and epigenetic abnormalities may be present in MM, the latter including DNA and histone methylation and histone deacetylation, and are thought to contribute to the pathogenesis of the disease. (touchoncology.com)
Various distinct genetic abnormalities have been reported in both MM and MGUS including epigenetic alterations such as DNA and histone methylation, and are known to contribute to the pathogenesis of the disease. (touchoncology.com)
The 3-hydroxy-3-methylglutaryl-CoA reductase ( HMGCR ) acts as a potential genetic modifier for Alzheimer's disease (AD). (oncotarget.com)

Until now, only the ε4 allele of apolipoprotein E ( APOE ) gene has been identified unequivocally as a major genetic factor to LOAD. (oncotarget.com)
The most common version (allele) of the SERPINA1 gene, called M, produces normal levels of alpha-1 antitrypsin. (medlineplus.gov)

Microarray analysis of ATRA treated WT cells revealed differential expression of many genes involved in extracellular matrix formation and osteogenic, neuronal or muscle differentiation. (uni-wuerzburg.de)

Autosomal dominant genetic transmission indicates that one copy of the altered gene is required for phenotypic expression. (medscape.com)

This volume will be a useful reference for geneticists, neurobiologists, and ophthalmologists who must understand and manage disorders of the retina, as well as anyone working to develop gene therapies for other medical conditions. (cshlpress.com)

Increasing evidence suggest that histone deacetylases (HDAC) and NF-κB promote the pathogenesis of AKI, and inhibition of Hdac activity has a protective effect in murine models of AKI. (nih.gov)

A cascade effect occurs when ras -GTPase is "switched on" by incoming signals, leading to activation of other proteins, which, in turn, activate genes responsible for cell growth and differentiation. (medscape.com)
These genes are involved in T cell regulation, including interferons, interleukin (IL),tumor necrosis factor (TNF), as well as linker for activation of T cells (LAT), cytotoxic T-lymphocyte-associated antigen 4 (CTLA4), and adapter proteins. (frontiersin.org)
Mechanistically, KDM6A features as an element from the MLL3/4-COMPASS (complicated of proteins connected with Established1)-like complicated to co-activate gene transcription most likely through getting rid of repressive lysine 27 histone 3 methylation marks 12, 13. (crispr-reagents.com)
The epigenome is an inheritable record of changes to the DNA and histone proteins, such as methylation and nucleosome remodelling that directs which genes are to be silenced or expressed. (touchoncology.com)

In vitro testing of primary tumor cultures provided clear evidence of a potential utility of retinoids in Wilms tumor treatment based on the analysis of gene expression, proliferation, differentiation and apoptosis. (uni-wuerzburg.de)
KDM6A in addition has been broadly implicated being a tumor suppressor gene where its mutational reduction commonly takes place in cancers cell lines of different tissue roots 15. (crispr-reagents.com)

Since the end of the 19th century, there have been many studies on ALS, but its pathogenesis is still unclear [ 4 ] . (encyclopedia.pub)

2 , 3 It is linked to a homozygous deletion of the SMN1 gene. (dovepress.com)
Experimental breeding data suggest a minimum of two homozygous recessive genes for diabetes. (diabetesjournals.org)

The genetic basis of this condition remains largely unknown, as no developmental genes other than paired box gene 6 ( PAX6 ) are known to be implicated in sporadic bilateral ONA. (molvis.org)

Using in silico analysis, the authors predicted that the target genes of these 5 miRNAs may involve in the pathways related to shingolipid and fatty acid metabolisms and the vascular signaling. (biomedcentral.com)

1 Despite this, no single gene has been definitively shown to cause SALS as attempts to replicate positive findings in different populations have often failed. (bmj.com)
Based on the product of single gene variant odds ratios, the risk of developing asthma was assigned to genotype profiles, and the frequency of each profile was estimated for the general population. (cdc.gov)

This gene encodes an ubiquitously expressed, cytosolic form of TrxR, which functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. (cancerindex.org)

Lack of association between antioxidant gene polymorphisms and progressive massive fibrosis in coal miners. (cdc.gov)
None of the individual investigated polymorphisms and two-way gene-gene interactions had a statistically significant association with PMF. (cdc.gov)

Here we have taken advantage of the Caenorhabditis elegans nematode model system to investigate genetic modifiers of biogenic amine toxicity. (stanford.edu)

These interactions are essential for Toll-like receptor-, RIG-I-, and Listeria-mediated expression of proinflammatory genes including Il6 and Il12b in macrophages. (cnrs.fr)

We've compiled 5 highlights from this week's coverage of advances in gene and cell therapies, including FDA actions, notable research, and interviews with experts across the field. (cgtlive.com)
Catch up on the latest news, breakthroughs, and announcements from biotechnology companies making advancements in cell and gene therapies. (cgtlive.com)

For example, global methylation analysis in MM has identified inactivated tumour suppressor genes that are prognostically important. (touchoncology.com)

The goal of this study is to discover which genes are associated with root skewing through transcription microarrays. (biomedcentral.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)
In this study, transcriptome data were derived from two Arabidopsis ecotypes, WS and Col-0, under three tilted growth conditions in order to identify candidate genes involved in skewing. (biomedcentral.com)
Comparing the gene expression profiles of WS and Col-0 in different tilted growth conditions identified 11 candidate genes as potentially involved in the control of skewing. (biomedcentral.com)

She is currently a Senior Investigator leading the Chromosome Structure and Epigenetics Mechanism Unit within the Laboratory of Receptor Biology and Gene Expression at the Center for Cancer Research of the NCI/NIH in Bethesda. (elifesciences.org)

Anatomy30

Organisms16

Diseases23

Chemicals and Drugs68

Analytical, Diagnostic and Therapeutic Techniques and Equipment36

Psychiatry and Psychology2

Phenomena and Processes83

Disciplines and Occupations2

Information Science3

Health Care9

Mutations23

Susceptibility genes3

Mutation14

Loci5

Diseases11

Chromatin modifiers2

Phenotype7

Variants6

Oxidative stress2

Phenotypes2

Bacterial1

Molecular3

Causative gene2

Causal1

Huntington's1

Protein9

Elucidate1

Role7

Inflammatory1

Somatic2

Genome-wide1

Clinical4

MSH32

Mechanisms1

Disease8

Allele2

Extracellular1

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Disorders1

HDAC1

Proteins4

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Unclear1

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Developmental1

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