Phenotype genes modifier. Medical search. Frequent questions

Fisher theorized that, since negative selective pressures are strongest against dominant, deleterious mutations, de novo mutations that arise are initially codominant, but evolve recessivity through the accumulation of modifier alleles at other loci that attenuate disadvantageous phenotypes. (wikipedia.org)
Wright challenged Fisher's theory and proposed that dominance of wild-type alleles evolves not by selection of modifiers, but by selection for physiological margins in biochemical pathways, that often allows them to function even with the occurrence of mutations, for instance in component enzymes. (wikipedia.org)
On average, we identify 43 mutations per tumour, excluding four cases with a mutator phenotype that harboured inactivating mutations in mismatch repair genes. (nih.gov)
In addition to mutations in TP53 and KRAS, we identify genetic alterations in chromatin remodelling genes, ARID1A and ARID1B, in histone methyltransferase MLL3, in histone deacetylase modifier SPOP and in chromatin assembly factor BAZ1A, in nearly two thirds of cases. (nih.gov)
Hundreds of variants (also known as mutations) in the HBB gene have been found to cause beta thalassemia. (medlineplus.gov)
Objective To evaluate the ophthalmic phenotypes associated with T-cell immune regulator 1 (TCIRG1) mutations in Chinese patients with infantile malignant osteopetrosis (IMO). (bmj.com)
To our knowledge, there is no study on the ophthalmic phenotypes of TCIRG1 mutations in patients with IMO. (bmj.com)
About 10% of ALS cases are caused by gene mutations, and more than 40 ALS-associated genes have been identified. (jci.org)
lilli mutations disrupt the transvection-dependent dpp phenotype and are also dominant maternal enhancers of recessive embryonic lethal alleles of dpp and screw . (sdbonline.org)
lilli zygotic mutant embryos exhibit a partially ventralized phenotype similar to dpp embryonic lethal mutations (Su, 2001). (sdbonline.org)
In humans, mutations affecting the genes of this family are associated with specific diseases. (sdbonline.org)
Cystic fibrosis (CF) is a rare autosomal recessive disorder caused by biallelic mutations in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene. (biomedcentral.com)
CF is caused by biallelic pathogenic mutations in the cystic fibrosis transmembrane conductance regulator gene ( CFTR ), which is mostly expressed in epithelial cells functioning as a chloride channel protein. (biomedcentral.com)
In the present study, we collected detailed clinical data and screened CFTR mutations in 20 additional Chinese patients to describe the phenotype more accurately and expand the mutation spectrum. (biomedcentral.com)
CACP is caused by mutations in the proteoglycan 4 (PRG4) gene, which encodes a lubricating glycoprotein present in the synovial fluid and at the surface of articular cartilage. (nih.gov)
Impact of hemochromatosis gene (HFE) mutations on epithelial ovarian cancer risk and prognosis. (cdc.gov)
The presence of pseudohermaphroditism should alert the clinician to the possibility of Denys-Drash or Frasier syndromes, both of which result from mutations in the WT1 gene. (medscape.com)
Cystic fibrosis (CF) is a monogenic disease due to mutations in the CFTR gene. (johnshopkins.edu)
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)
[ 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)
Mutations in genes concerned with production of enzymes for metabolism of tobacco products may lead to increased risk of carcinogenesis with respect to oral mucosa. (bvsalud.org)

He argued that the effects of competition and genetic drift on populations, limited in genetic diversity, would overwhelm weak selection pressure acting on modifier alleles with nominal phenotypic consequences. (wikipedia.org)
It is well known that the gene which determines blood group in humans has three different alleles, A, B, C and that there are four groups of blood, A, B, AB and O. The aim is to investigate the transmission of blood groups from parents to their offspring. (scialert.net)
There are three alleles or versions of the blood type gene: A, B and C. Since, humans are diploid organisms (meaning we carry a double set of chromosomes-one from each parent), blood types are determined by two alleles ( Table 1 ). (scialert.net)
A child receives one of the three alleles from each parent, giving rise to six possible genotypes and four possible blood types (phenotypes) ( Table 2 ). (scialert.net)
2) lilli mutation strongly suppresses the rough eye phenotype of ectopically expressed phyllopod (Tang, 2001), and (3) lilli was identified in a screen for genes that enhance the embryonic lethal phenotype of dpp alleles (Su, 2001). (sdbonline.org)
GENES with ALLELES that affect the PHENOTYPE associated with a nonallelic gene. (ucdenver.edu)
Merle phenotype is a hereditary disorder characterized by two or more overlapping alleles at the M locus. (creativeescapeaz.com)
The gene carries three alleles, two of which are dominant and one is recessive. (creativeescapeaz.com)

Alterations in genes with potential clinical utility are observed in more than three quarters of the cases and included members of the PI3-kinase and homologous DNA repair pathways. (nih.gov)
A third gene variant (S65C) may lead to increased serum iron and ferritin levels without clinical significance (type 1c). (mhmedical.com)
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)
His three first cousins had a more slowly progressive neurodegenerative disease, in line with the clinical phenotype of the milder form (Salla type) of this lysosomal disorder. (bgu.ac.il)
Clinical phenotypes are grouped into five forms depending on the severity of the disease and the age of onset. (dovepress.com)
The identification of chiasmal misrouting in family F1 and anterior segment abnormalities in family F2 suggested that the families have the same clinical phenotype. (molvis.org)
In this study, we extend the clinical phenotypes observed in each family and show that they have the same disorder, which we have termed f oveal h ypoplasia, o ptic n erve d ecussation defects and a nterior segment dysgenesis (FHONDA syndrome). (molvis.org)
IthaGenes is an interactive archive of all sequence variants affecting haemoglobin disorders, including the globin loci and disease modifiers and polymorphisms with relevance for clinical diagnosis. (ithanet.eu)
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)
Patients with multiple sclerosis are classified according to their clinical phenotype, with ~85% following a relapsing-remitting course (relapsing-remitting multiple sclerosis) characterized by recurrent, acute neurological deficits punctuating periods of latency or remission (Lublin and Reingold, 1996). (medscape.com)
Diagnosis is by sweat test or identification of 2 cystic fibrosis-causing gene variants in patients with a positive newborn screening test result or characteristic clinical features. (msdmanuals.com)

To identify genetic variants that increase the risk of cleft or palatal anomalies in 22q11.2DS patients, we performed a candidate gene association study in 101 patients with 22q11.2DS genotyped with the Affymetrix genome-wide human SNP array 6.0. (elsevierpure.com)
In rare cases, Sarc− HCM cases may be caused by pathogenic variants in non-sarcomeric genes. (mdpi.com)
Most of the variants involve a change in a single DNA building block (nucleotide) within or near the HBB gene. (medlineplus.gov)
Other variants insert or delete a small number of nucleotides in the HBB gene. (medlineplus.gov)
HBB gene variants that decrease beta-globin production result in a condition called beta-plus (β + ) thalassemia. (medlineplus.gov)
Variants in the HBB gene have been found to cause methemoglobinemia, beta-globin type, which is a condition that alters the hemoglobin within red blood cells. (medlineplus.gov)
In methemoglobinemia, beta-globin type, variants in the HBB gene alter the beta-globin protein and promote the heme iron to change from ferrous to ferric. (medlineplus.gov)
Variants in the HBB gene can also cause other abnormalities in beta-globin, leading to other types of sickle cell disease. (medlineplus.gov)
High serum ferritin levels are seen in hyperferritinemia cataract syndrome associated with pathogenic variants in the FTL (ferritin L-chain) gene. (mhmedical.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)
The most studied variants are linked to the HFE gene. (scielo.br)
Highly polymorphic regions (such as HLA genes) are not represented either due to difficulty with designing primers because of the lack of constant regions flanking the variants. (tripod.com)
IthaGenes currently stores 3434 variants in 524 genes, regulatory sequences or intergenic regions. (ithanet.eu)
The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes. (cdc.gov)
The collapsing form of FSGS has long been considered a distinct entity, but in the past few decades, we have identified more than 60 genes that are of monogenetic causes, not including disease modifiers and other gene noncoding variants that might affect progression of disease. (medscape.com)

A relationship between the type of fibrillin 1 (FBN1) gene mutation and the mechanism for the disease (haplo-insufficiency vs negative dominance), as well as some genotype/phenotype correlations, has been observed, although the main challenge of recognising gene modifiers has yet to explain tremendous variability despite similar mutation. (bmj.com)
This family demonstrates the significant phenotypic variability of the disease in affected members of a single inbred kindred with precisely the same mutation, suggesting a role for modifier genes or environmental factors. (bgu.ac.il)
We confirm that the skeletal component of this disease worsens with age, and presents the potential mechanisms for interfamily variability, by discussing the influence of a modifier gene and escape from nonsense-mediated mRNA decay. (nih.gov)
Such expressivity variability of phenotype could be explained by expression of modifier genes. (ens-lyon.fr)
Yet, variability in CF disease presentation is presumed to be affected by modifier genes, such as those recently demonstrated for the pulmonary aspect. (johnshopkins.edu)
This high degree of individual variability indicates that other modifier genes may also play a role in the development of this gene's phenotype. (creativeescapeaz.com)
Individual's susceptibility to cancer may be partly explained by variability in enzymatic activities of metabolic genes. (bvsalud.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)
The proposed strategy is useful to detect modifier loci conferring susceptibility to a specific phenotype within a broader phenotype. (ulaval.ca)
He identified loci and named them after the phenotypes they attributed to them. (creativeescapeaz.com)

The analysis of genetic factors other than CFTR may help our understanding of genotype-phenotype relationships in CF. As human leukocyte antigen (HLA) class II polymorphism has been associated with a number of diseases including autoimmune and inflammatory diseases, asthma, and allergy, we investigated the possibility that HLA polymorphism contributes to CF-associated pulmonary inflammation. (nih.gov)
NGM would specifically like to explore genotype-phenotype relationships within these data with the ultimate goal of translating those discoveries into new treatments for disease. (ukbiobank.ac.uk)

In genetic terms, these combinations are called genotypes and they describe the genes that an offspring inherited from his parents. (scialert.net)

Polymorphisms in modifier genes have been shown to lead to a high iron phenotype. (mhmedical.com)
The other one is that mutation is any variation in the gene that causes an obvious change in phenotype whereas polymorphisms do not cause any obvious phenotypic variation. (tripod.com)
Therefore variations in the expression of these genes due to heritable genetic polymorphisms might modulate the process of carcinogenesis by altering the exposure levels of tobacco derived carcinogens. (bvsalud.org)

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)

Thus, we are particularly interested in the function of chromatin modifiers, including the MYST family of histone acetyltransferases. (edu.au)
We are currently investigating the function of chromatin modifiers during embryonic development, in adult stem cell populations and in cancer, and modelling chromatin-based intellectual disability to discover ameliorating treatments. (edu.au)
8. The chromatin state - the packaging of DNA with both histone and non-histone proteins - has marked effects on gene expression and is believed to contribute to the establishment and the maintenance of cell identities. (catsboard.com)
Many histone modifiers and chromatin remodelers have been implicated in stem cell pluripotency, cellular differentiation and development. (catsboard.com)

Transcriptional activity is regulated by DNA binding transcription factors, but these typically act in more than one cell lineage activating different subsets of target genes in each. (edu.au)
Alternatively, we find pronounced effects on the direct PLAGL2 target genes IGF2, a fetal growth factor, and ASCL2, an intestinal stem cell-specific bHLH transcription factor. (bvsalud.org)
This work illustrates the robust effects of this zinc finger transcription factor in colorectal cancer (CRC) cell lines and nontransformed intestinal epithelium, with effects mediated, in part, via the direct target genes ASCL2 and IGF2. (bvsalud.org)

The influence of modifier genes on the disease phenotype in South African families with hereditary nonpolyposis colorectal cancer (HNPCC). (ox.ac.uk)
Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. (cdc.gov)

Their theories on the evolution of dominance had far-reaching implications for the fields of evolution, population and quantitative genetics, and biochemistry, and laid the early foundation of current understanding of human disease modifier genes. (wikipedia.org)
The rapidity of progress in ALS genetics and the subsequent acquisition of insights into the molecular biology of these genes provide grounds for optimism that meaningful therapies for ALS are attainable. (jci.org)
By comparing their unique genetics to the broad assortment of traits, we can better understand the relationship between the genes and patient health. (ukbiobank.ac.uk)
The opportunity came when a research team at Texas A&M University, led by the late Keith Murphy, DVM, PhD, professor of genetics, and Leigh Anne Clark, PhD, research assistant professor, identified the merle gene and then proposed a follow- up study to find the harlequin gene. (purinaproclub.com)

HCM is inherited as an autosomal dominant trait and, in about 40% of patients, the causal mutation is identified in genes encoding sarcomere proteins. (mdpi.com)
While important questions about the biology of this disease remain unanswered, investigations of ALS genes have delineated pathogenic roles for (a) perturbations in protein stability and degradation, (b) altered homeostasis of critical RNA- and DNA-binding proteins, (c) impaired cytoskeleton function, and (d) non-neuronal cells as modifiers of the ALS phenotype. (jci.org)
Genetic studies have clarified that most microcephaly genes encode ubiquitous proteins involved in mitosis and in maintenance of genomic stability, but the effects of their inactivation are particularly strong in neural progenitors. (cancerindex.org)
hundreds of human genes encode signal proteins, cell-surface receptors, cell adhesion proteins, or ion channels that are either not present in yeast or present in much smaller numbers. (catsboard.com)
Along with the regulatory proteins, they play a significant part in controlling gene expression during animal development, but the full extent of their importance is still unclear. (catsboard.com)
6. Transcription factors - proteins that regulate which genes are transcribed in a cell - appear to be essential to determining the pathway particular stem cells take as they differentiate. (catsboard.com)

The constitutional loss of one allele of the Wilms tumor gene ( WT1 ) results in GU anomalies and forms the first of 2 genetic events in the development of a Wilms tumor. (medscape.com)
However, transmission of blood group AB in a family as if by a single chromosome or allele, instead of by two separate chromosomes or genes were reported and this led to the discovery of a very rare blood group called cis-AB. (scialert.net)
The ε4 allele of the Apolipoprotein E (APOE) gene in individuals infected by Herpes simplex virus type 1 (HSV-1) has been demonstrated to be a risk factor in Alzheimer's disease (AD). (j-alz.com)
The masked allele is caused by a missense variant at the c.790A>G gene that results in a change of one amino acid from methionine to valine. (creativeescapeaz.com)
If expression of a trait requires only one copy of a gene (one allele). (msdmanuals.com)

Subject A has a large deletion on chromosome 11 that removes one copy of the BDNF gene. (medscape.com)
Hemochromatosis is an autosomal recessive disease caused in most cases by a pathogenic variant in the HFE gene on chromosome 6. (mhmedical.com)
An uncommon juvenile-onset variant that is characterized by severe iron overload, cardiac dysfunction, hypogonadotropic hypogonadism, and a high mortality rate is usually linked to a variant gene on chromosome 1q designated HJV that produces a protein called hemojuvelin (type 2a) or, rarely, to a variant of the HAMP gene on chromosome 19 that encodes hepcidin (type 2b). (mhmedical.com)
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)
The deletion of varying lengths of chromosomal material along the short arm of chromosome 11 is the underlying defect, and developmental abnormalities are related to the contiguous loss of neighboring genes. (medscape.com)
The brown gene is present on chromosome 11 and is responsible for producing the brown color in a dog. (creativeescapeaz.com)
MC1R is a gene located on the chromosome 5 of canines. (creativeescapeaz.com)
The responsible gene has been localized on the long arm of chromosome 7. (msdmanuals.com)

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)
While the many functions of MYC were first attributed to its ability to both activate and repress transcription of a large number of genes through direct binding to their promoters, more and more reports challenge this dogma. (biomedcentral.com)

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 lilli gene encodes a nuclear protein related to the AF4/FMR2 family. (sdbonline.org)
This gene encodes a large protein that functions as a GDP to GTP exchange factor. (cancerindex.org)
The responsible gene has been mapped to band 12q24.1, which encodes the human transcription factor TBX5. (medscape.com)

We found that by comparing frameshift and point mutation cases in 27 Chinese patients with TCIRG1-IMO, severity of the ocular manifestations was related to the type of gene mutation, and the frameshift mutation in TCIRG1 led to more serious phenotypes. (bmj.com)
Penetrance refers to frequency of expression of a genotype regardless of severity of the phenotype. (tripod.com)
Phenotypic analysis of col22a1 -/- larvae showed that the phenotypic traits are similar to those described in the morphants but with a lesser degree of severity in the mutants without apparent phenotype. (ens-lyon.fr)
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)

Detection of phenotype modifier genes using two-locus linkage analysis in complex disorders such as major psychosis. (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)
A human disease modifier gene is a modifier gene that alters expression of a human gene at another locus that in turn causes a genetic disease. (wikipedia.org)
In the context of human disease, the terms 'modifier gene' and 'oligogene' have similar meanings, and characterization of a particular locus depends on characterization of the phenotype (effects) that it causes or modifies. (wikipedia.org)
The term 'modifier gene' may be taken to mean a gene in which genetic variation modifies the effects of mutation at a major locus, but has no effect on the normal condition, a condition not necessarily met for oligogenic interactions. (wikipedia.org)
The association with rs9300298 in the ADIPOR2 gene at the 12p13.3 locus was replicated in an independent sample of CF families. (johnshopkins.edu)
A protective locus, using the phenotype of no-MI, mapped to 4q13.3 (HLOD = 3.19), with substantial heterogeneity. (johnshopkins.edu)
Geneticist Clarence Little defined the coat colour phenotypes of dogs and assigned each colour to a particular gene (locus). (creativeescapeaz.com)

While one-third of the col22a1 -/- larvae from the 2 mutant lines displayed a severe phenotype resulting in their death at around 2 weeks, the rest of larvae showed no apparent phenotype and reached adulthood. (ens-lyon.fr)
Muscle weakness observed in 2wpf individuals with severe phenotype led to disabling posture defects while individuals with no apparent phenotype did show, at adulthood, diminished swimming performance with increased O 2 consumption compared to wildtype. (ens-lyon.fr)

In 1941, Haldane applied the genetic model of modifier genes, which originated from theories of on the evolution of dominance, to phenotypic disease variation in humans. (wikipedia.org)
Understanding the connection in humans between certain genes and the traits that they govern is an essential first step in developing new therapies that will ultimately benefit a large number of patients. (ukbiobank.ac.uk)

What pathways are this gene/protein implicaed in? (cancerindex.org)
Among the genes and pathways controlled by TET1, we found ribosomal biogenesis and translational control of protein synthesis highly enriched. (biomedcentral.com)
This has implications for the role of PLAGL2 in activation of onco-fetal and onco-stem cell pathways, contributing to immature and highly proliferative phenotypes in CRC. (bvsalud.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)

These results suggest that transcriptional elongation control is especially important for rapidly expressed genes to support digestion and metabolism, many of which have sex-biased function. (sdbonline.org)

In heterozygous dogs, the phenotype is milder than in homozygous Merle dogs. (creativeescapeaz.com)

These mutant phenotypes correlate with markedly reduced expression of the early zygotic genes serendipity alpha , fushi tarazu and huckebein , which are essential for cellularization and embryonic patterning (Tang, 2001). (sdbonline.org)
During embryonic development, the unique cellular phenotypes of the adult are established. (edu.au)
Therefore, gene activity is an important mechanism in embryonic development and adult stem cell differentiation. (edu.au)
Defective development of the embryonic radial ray (eg, aplasia, hypoplasia, fusion, other anomalous development) results in a wide spectrum of phenotypes, including triphalangeal or absent thumbs, foreshortened arms, and phocomelia. (medscape.com)
The T-box gene family is a group of related genes that play a critical role in human embryonic development. (medscape.com)

Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis. (ucdenver.edu)

The genetic structure includes 4 zinc-finger regions, which suggest that WT1 may be important in controlling the expression of other genes. (medscape.com)
Almost half of the genes expressed in adults showed reduced expression, supporting a broad role for the three tested genes in steady-state transcript abundance. (sdbonline.org)
Genes showing reduced expression due to these RNAi treatments were short and enriched for genes encoding metabolic or enzymatic functions. (sdbonline.org)
Hundreds of genes were observed with sex-biased differential expression following treatment. (sdbonline.org)
Embryos lacking maternal lilli expression show specific defects in the establishment of a functional cytoskeleton during cellularization, and exhibit a pair-rule segmentation phenotype. (sdbonline.org)
Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
The diverse cell types are genetically identical, but differ in their form and function due to differences in gene expression. (edu.au)
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)
Here, we report that in T cell acute lymphoblastic leukemia (T-ALL) the MYC oncogene controls the expression of TET1 and TET2 to maintain 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) patterns, which is associated with tumor cell-specific gene expression. (biomedcentral.com)
The development of animals is dominated by cell-cell interactions and by differential gene expression. (catsboard.com)
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)
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)
How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? (lu.se)
Alteration of the pattern of gene expression by oxidants may function in the stimulation of the initiated cell during tumor promotion. (bvsalud.org)
Increasing evidence emphasize that a substantial variance of protein expression is conveyed at the levels of protein synthesis and degradation, and that post-transcriptional control of gene expression plays a critical role in multiple aspects of cell biology, including coordination of cellular processes and rapid alteration of cellular phenotype. (lu.se)

Both the GU abnormalities and the development of a Wilms tumor in patients with WAGR syndrome are related to the loss of WT1 gene function. (medscape.com)

He cited breeding experiments in nasturtium and Drosophila, in which a distinct, mutant phenotype is lost with successive outcrossings, and recovered with inbreeding of offspring. (wikipedia.org)
By outcrossing, he argued, the breeder selects for modifying factors that attenuate the mutant phenotype, and by inbreeding and limiting the gene pool of modifiers, the dominance of the mutation is recovered. (wikipedia.org)
The phenotype of the L1 mutant mouse indicates that it is a potentially valuable model for the human CRASH syndrome. (jneurosci.org)

Linkage analysis of modifier traits is different than linkage analysis of primary traits on which a sample was ascertained. (johnshopkins.edu)

This non systematic review summarizes current data available on the role of environment gene interaction in form of GSTM1 null polymorphism and oral carcinogenesis. (bvsalud.org)
Relationship between GSTM1 null polymorphism in oral cancer needs to be established to confirm the role of environment gene interaction in oral carcinogenesis. (bvsalud.org)
The polymorphic genes have subtle effect on cancer risk at individual level but may have a large population impact because the relevant polymorphism may be highly prevalent in a population. (bvsalud.org)

The study of diseases that arise from interactions amongst genes is important for understanding the genetic basis of disease. (wikipedia.org)
He analyzed data collected by Julia Bell on the heritability of several human diseases with quantitative phenotypes, specifically variation in age of onset. (wikipedia.org)
Emerging experimental evidence has substantiated the likely existence and importance of modifier genes of human genetic disease, and a few diseases serve as models for the course of this emerging evidence. (wikipedia.org)
Thus, we aim to apply the genotype and phenotype data available in the biobank to better understand the human biology of targets for which we have drugs currently in development and to identify new targets for diseases with significant unmet medical needs. (ukbiobank.ac.uk)
This study also revealed a variable expressivity of the col22a1 phenotype, a phenomenon frequently observed in human inherited disorders and brought an additional evidence of the reliability of zebrafish as a model of human diseases. (ens-lyon.fr)

Methods: Patients from Children's Hospital of Philadelphia, USA and Wilhelmina Children's Hospital Utrecht, The Netherlands were stratified based on palatal phenotype (overt cleft, submucosal cleft, bifid uvula). (elsevierpure.com)
Results: Genotype and phenotype data of 101 unrelated patients (63 non-cleft subjects (62.4%), 38 cleft subjects (37.6%)) were analyzed. (elsevierpure.com)
[ 4 ] Loss of function of the BDNF gene in some patients with WAGR syndrome may produce obesity and hyperphagia. (medscape.com)
Deletion of the PAX6 gene as part of the band 11p13 deletion in patients with AGR or WAGR syndrome results in aniridia. (medscape.com)
Hemochromatosis gene sequence deviations in German patients with porphyria cutanea tarda. (cdc.gov)

Early theories that established the likely existence of modifier genes, and gene interactions as determinants of phenotypic variation, originated from theories of evolution, notably the evolution of the condition of allelic dominance. (wikipedia.org)
These "low-risk" genes can also become important determinants to assess population risk 8 . (bvsalud.org)

A dog with both haplozygosity and a recessive gene will be blue or grey. (creativeescapeaz.com)

There's the genetic form that I mentioned, which has been expanding in the causative gene list. (medscape.com)

Future studies should assess the correlation of TCIRG1 gene mutation and the mechanism of ocular sign occurrence. (bmj.com)

SNPs in 21 candidate genes for cleft palate were analyzed for genotype-phenotype association. (elsevierpure.com)
A Total of 39 SNPs on 10 genes demonstrated a p-value ≤0.05 prior to correction. (elsevierpure.com)

Dr. Mistry's research is focused on comprehensive delineation of Gaucher disease through phenotype annotation, genomic annotation, modifier gene discovery, biomarker discovery/validation and therapies. (gaucherdisease.org)
Huntington's disease (HD) is a progressive and fatal neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene. (nature.com)

CRC tumorigenesis is also driven by multiple epimutational modifiers such as transcriptional regulators. (bvsalud.org)

[ 2 ] The product of the WT1 gene has zinc finger arrays that bind to specific DNA sequences, whereas the amino terminus appears to regulate transcription. (medscape.com)
Loss of FMR2 gene transcription causes mental retardation. (sdbonline.org)
more than 1000 human genes encode transcription regulators, but only about 250 yeast genes do so. (catsboard.com)

The C282Y gene variant and hemochromatosis are uncommon in Black and Asian American populations. (mhmedical.com)

Autosomal Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)

Breeders disagreed about why merle remained in the gene pool. (purinaproclub.com)
One of the most influential harlequin breeders was the late Laura Kiaulenas of BMW Great Danes in Farmingville, New York, who believed that harlequin resulted from the interaction of genes for black, merle and white. (purinaproclub.com)
They located the harlequin gene and described how merle and harlequin interacted. (purinaproclub.com)
The merle gene is absent in blacks. (creativeescapeaz.com)

T-cell immune regulator 1 (TCIRG1) is one of the main genes that are responsible for the majority of infantile malignant osteopetrosis (IMO) cases, which are characterised by neonatal and infantile onset, a systemic sclerosis of bones, vulnerability to fracture, progressive anaemia, infection, hepatosplenomegaly and cranial nerve dysfunction, including poor gaze qualities, optic atrophy and optic canal stenosis. (bmj.com)

We identified nine novel genomic alterations, including the first case of homozygous complete deletion of exon 1 in the PRG4 gene. (nih.gov)
2 , 3 It is linked to a homozygous deletion of the SMN1 gene. (dovepress.com)

Meanwhile, the deletion of one copy of the PAX6 gene is responsible for aniridia. (medscape.com)
Deletion of the PAX6 gene, which plays a role in myelinization of the cerebral hemispheres during CNS development, may also be responsible for the mental retardation seen in the WAGR association. (medscape.com)
Gene reduction analysis revealed that the gene deletion processes are under selective pressure, and many of the inactivations are probably related to the organism's interaction with its host environment. (asm.org)

The presumed gene count of 100,000 for human genome drastically went down to around 20,000 after the completion of Human Genome Project. (tripod.com)

Haldane proposed that there exist three possible sources of observed phenotypic variation in monogenic traits: differences in the main gene itself differences in modifying genes differences in environment Haldane provided a fundamental, theoretical basis for the existence of modifier genes. (wikipedia.org)

Ultimately, Wright's explanation of the evolution of dominance garnered most support, from experimental biochemists and geneticists, and later theorists, but it was Fisher's theory that first introduced the concept of modifier genes. (wikipedia.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)

However, we cannot exclude a possible gene compensation as suggested by a candidate gene approach. (ens-lyon.fr)
In that, we identified COL22A1 as a potential candidate gene for unresolved cases of human myopathies. (ens-lyon.fr)
A candidate gene in the region, SLC4A4, provided preliminary evidence of association (p = 0.002), warranting further follow-up studies. (johnshopkins.edu)

Anatomy24

Organisms20

Diseases14

Chemicals and Drugs56

Analytical, Diagnostic and Therapeutic Techniques and Equipment42

Phenomena and Processes106

Disciplines and Occupations1

Information Science4

Health Care9

Mutations23

Alleles8

Clinical12

Variants15

Variability7

Loci3

Genotype-phenotype relationships2

Genotypes1

Polymorphisms3

Genetic modifiers1

Chromatin4

Target genes3

Hereditary2

Genetics4

Proteins6

Allele5

Chromosome9

Large number of genes2

Including heterogeneity1

Encodes3

Severity4

Locus8

Severe2

Humans2

Pathways4

Metabolism1

Milder1

Embryonic5

Pseudomonas1

Expression16

Abnormalities1

Mutant3

Linkage analysis1

Polymorphism3

Diseases5

Patients5

Determinants2

Recessive gene1

Causative gene1

Mutation and the mechanism1

SNPs2

Disease2

Transcriptional1

Transcription3

Hemochromatosis1

Disorders1

Merle4

Onset1

Homozygous2

Deletion3

Genome1

Phenotypic variation1

Dominance1

Disorder1

Candidate gene3