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Expression of the Gly-16 allele (glycine at position 16) results in greater receptor downregulation by endogenous catecholamines at baseline compared to Arg-16. (wikipedia.org)
After adjusting for potentially confounding variables of age, smoking status and duration of exposure, minor allele homozygotes of rs7088181 and rs10762058 SNPs were at increased risk for DA compared with AWs [OR= 9.05 (95% CI:1.69, 48.54) and OR = 6.82 (95% CI:1.65, 28.24), respectively]. (cdc.gov)
Incomplete dominance is one of the mechanisms for dominance among heterozygotes in which the dominant allele does not fully overpower the phenotypic expressions of the recessive one, and there is an intermediate phenotype within the heterozygote. (microbiologynote.com)
In cases of incomplete dominance the dominant allele can't fully dominate the recessive one because of that the resulting genotype is a mixture of both. (microbiologynote.com)
Co-dominance is the method of dominance in some alleles in which both alleles of one gene within heterozygotes lack the recessive and dominant relationship and every allele is capable of a certain degree of expression phenotypic. (microbiologynote.com)
The frequency of the MMP-1 2G allele was higher and that of the 1G homozygote was lower in the OSCC cases ( p = 0.034). (biomedcentral.com)
The homozygotes and heterozygotes for the wild type allele named positive genotypes. (molvis.org)
We crossed a mouse harboring a transgene directing cre-recombinase expression primarily to postnatal, dorsal striatal medium spiny neurons, to a mouse containing a floxed TrkB allele (fB) mouse designed for deletion of TrkB to determine its role in the adult striatum. (biomedcentral.com)
Moreover, patients with a smoking habit or younger age (≤65 years), who had at least one T allele of HOTAIR rs12427129 were at a higher risk of developing advance tumor T satge (p = 0.046), compared to those patients with CC homozygotes. (tmu.edu.tw)
1 % of alleles, expression is possible only from the paternal or maternal allele. (msdmanuals.com)
For example, expression of the gene for insulin -like growth factor 2 is normally expressed only from the paternal allele. (msdmanuals.com)
These data suggest that the 138G variant allele strongly influences these diseases by modulation of immune mechanisms and may have achieved its high frequency as a result of a natural selection probably related to pathogen resistance. (ox.ac.uk)
The current study demonstrated that the rs78378222 polymorphism minor allele introduces a novel potential miR‑125b binding site in the TP53 3'‑UTR with a consecutive 8‑bp perfect match, creating a ʻgain‑of‑function' variant and affecting the regulation of TP53 expression. (spandidos-publications.com)

Reductions in SRC64B expression levels suppress a Wnt5 / derailed -dependent dominant gain-of-function phenotype,and increased levels of either SRC64B or SRC42A enhance Wnt5 / derailed -mediated axon commissure switching. (biologists.com)
In the rare disease erythropoietic protoporphyria , haploinsufficiency for ferrochelatase ( FECH ) contributes to the clinical phenotype but is not the only reason for the disease expression. (dorak.info)
Sodium currents in dissociated hippocampal neurons are normal, but Na v 1.1 expression is reduced and Na v 1.3 expression is increased in a subset of pyramidal neurons in the CA2/CA3 region, suggesting a basis for the epileptic phenotype. (jneurosci.org)
Incomplete dominance can also be referred to as semi-dominance or partial dominance because the phenotype that results of the genotype can be described as a mix of recessive and dominant alleles. (microbiologynote.com)
In quantitative genetics, when the heterozygous phenotype is exactly the same as (numerically) those of two homozygotes, it is considered to be there is no dominance. (microbiologynote.com)
Therefore, the phenotype that results from insufficient dominance is pink. (microbiologynote.com)
The phenotype that is resulting is an original one that was not present in the family with homozygous parents. (microbiologynote.com)
Segregates WT GFP, Dpy GFP mIn1 homozygotes and ok553 homozygotes (arrest stage/phenotype undetermined). (umn.edu)
Heterozygotes are WT, and segregate WT, Dpy sC1 homozygotes, and ok603 homozygotes (arrest stage/phenotype undetermined). (umn.edu)
These results demonstrate that astrocytes isolated from B6.129S6-Il10 tm1Flv /J homozygotes are prone to A1 phenotype and contribute to the depression-like behavior and memory deficits. (biomedcentral.com)

Co-dominance may be considered to be not dominance in the sense that the heterozygote exhibits the characteristics from both homozygotes. (microbiologynote.com)
Subjects with R/R genotype had significantly higher FVIIc levels than Q353 heterozygote and homozygote subjects (96.36 versus 59.52). (who.int)

Mutations also result in interesting variety including white animals and white spotting phenotypes. (creation.com)

These results portray a case of unusually high genetic diversity, and suggest that individual humans have a highly personalized inventory of functional olfactory receptors, a conclusion that might apply to other receptor multigene families. (biomedcentral.com)

However, a separate gene C, when present as the recessive homozygote cc, negates any expression of pigment from the A gene and results in an albino mouse Figure 8. (buildconenterprises.com)

This results in a greater single-use bronchodilator response in individuals homozygous for Arg-16 compared to Gly-16 homozygotes. (wikipedia.org)

Additional in vivo imaging revealed reduced brain glucose metabolism (fluoro-2-deoxy- D-glucose µPET) at 12 months and reduced cerebral blood flow (continuous arterial spin-labeled magnetic resonance imaging) at six months in Trem2 T66M homozygotes, compared to wild-type mice. (alzforum.org)
Intraperitoneal injection of LPS led to downregulation of Trem2 expression in both wild-type and Trem2 T66M mice, and to significantly increased levels of pro-inflammatory cytokines in brain and plasma of Trem2 T66M but not wild-type mice during the resolution phase of the inflammatory response. (alzforum.org)
Resulting mice were then back-crossed to C57BL/6J. (alzforum.org)
Pretreatment IL-10 tm1/tm1 mice with IL-10 or fluorocitrate decreased the expression of proinflammatory factors and A1-specific transcripts in the hippocampus and cortex, and then alleviated LPS-induced depressive-like behavior. (biomedcentral.com)
We sought to examine the role of the TrkB receptor in mature MSNs in adult male and female mice, with a focus on behavior and gene expression. (biomedcentral.com)

Some mutations result in pleiotropy, although this is variable depending on genetic background, type of mutation, and location of the mutation. (creation.com)
5 This explains why heritable loss-of-function mutations sometimes have pleiotropic effects, not only resulting in white color patterns, but also anemia and/or infertility. (creation.com)
We now demonstrate that null mutations of Drosophila Dab result in phenotypes that mimic Abl mutant phenotypes, both in axon guidance and epithelial morphogenesis. (biologists.com)
Phenotypic analysis of these ' in locus ' mutations based on both expression of Kni protein and adult wing phenotypes, reveals novel unexpected features of L2-CRM function including evidence for a chromosome pairing-dependent process that promotes transcription. (elifesciences.org)
To date, there have been 184 different mutations in the protoporphyrinogen oxidase gene that results in variegate porphyria. (medscape.com)

Homozygote Pax3(Pax8/Pax8) embryos display phenotypes indistinguishable from Pax3-deficient mutant embryos, with neural tube closure defects, a deficit in neural crest cells in the trunk, and skeletal muscle defects including absence of long-range migratory myogenic progenitors and impaired somite development. (pasteur.fr)
Interestingly, despite Pax8 expression in the neural tube in a domain ventral to that of Pax3, Pax8 cannot replace Pax3 function in the dorsal neural tube. (pasteur.fr)

GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
The data point to a set of behaviors and changes in gene expression following postnatal deletion of TrkB in the dorsal striatum distinct from those in other brain regions. (biomedcentral.com)
Many factors can affect gene expression (and thus phenotypes). (msdmanuals.com)
MicroRNAs (miRNAs) are an integral part of the post-transcriptional machinery of gene expression and have been implicated in the carcinogenic cascade. (cdc.gov)
MicroRNAs (miRNAs) are small, noncoding RNAs that bind to the 3' UTR of target mRNAs, and silence gene expression by inducing degradation of target mRNAs or inhibition of protein translation [ 10 ]. (cdc.gov)

To date, polymorphisms of the promoter domain have been described in MMP-1, -3, -9, -12 to influence the expression level of the genes [ 10 ]. (biomedcentral.com)
Combined expression of defense genes with different mechanisms of action rather than combinations of inhibitors may then offer a better strategy in pest management as it should be more effective in overcoming this general adaptive response in the insect. (hebron.edu)
Studies on rodent UGT genes have demonstrated that the transcription factors hepatocyte nuclear factor 1 (HNF1) and CAAT-enhancer binding protein are important positive regulators of UGT expression in the liver (Hansen et al. (aspetjournals.org)
The goal was to understand which sections of DNA controlled where and when genes are activated to result in this structure being reliably located in its correct position. (elifesciences.org)
MicroRNAs (miRNAs) negatively regulate the expression of the target genes by binding to ʻseed sequences' in the 3'‑untranslated region (3'‑UTR) mRNA transcripts, and the variants within or nearby ʻseed sequences' may compromise or enhance miRNA/mRNA interaction leading to either ʻloss‑of‑function' or ʻgain‑of‑function' effects. (spandidos-publications.com)
MicroRNAs (miRNAs), a class of endogenous small non-coding RNAs of 20-25 nucleotides, modulate the expression of genes at the post-transcriptional level ( 7 ). (spandidos-publications.com)

However, the effects of β1 are highly dependent on the experimental system in which they are studied, and different effects on the kinetics and voltage dependence of gating of brain sodium channels are observed on expression in Xenopus oocytes, Chinese hamster lung and ovary cells, and human embryonic kidney cells (Isom et al. (jneurosci.org)
Segregates WT GFP, Dpy GFP mIn1 homozygotes and GFP- ok464 homozygotes (probable embryonic arrest). (umn.edu)

The RR was significantly higher in patients with a 6-bp deletion homozygote (-6 bp/-6 bp) in TS-3'UTR (55.0% vs . 30.3% in +6 bp/+6 bp or +6 bp/-6 bp, p = 0.034), and C/A or A/A in XPD156 (52.0% vs . 26.1% in C/C, p = 0.038). (biomedcentral.com)
The -6 bp/-6 bp deletion polymorphism in the 3'UTR of TS is associated with decreased mRNA stability in vitro and lower intratumoral TS expression in vivo . (biomedcentral.com)

Molecular biological methods, including PCR-SSP for ABO genotyping and DNA sequencing for FUT1, were used to detect the genotypes of ABO and FUT1 which determined the expression of H antigen. (bvsalud.org)

A decrease in the synthesis or expression of hepcidin, the principal iron regulatory hormone, is thought to be a key pathogenic factor in all forms of hemochromatosis. (mhmedical.com)
H63D homozygotes do not develop hemochromatosis but may be at increased risk for amyotrophic lateral sclerosis, and carriers may be at increased risk for non-cardia gastric cancer. (mhmedical.com)

The increase in frequency of the mutant gene though is balanced by the fact that mutant homozygotes have decreased fitness. (discovermagazine.com)

Segregates WT GFP, Dpy GFP mIn1 homozygotes and ok610 homozygotes (viable GFP- adult, sometimes slow-growing with various occasional body defects). (umn.edu)

Homozygotes for a targeted null mutation show elevated neuronal apoptosis resulting in ataxia, incoordination, elevated seizure susceptibility, and death by 35 days. (jax.org)
Because OR neuronal expression is allelically excluded, this has direct effect on smell perception diversity of the species. (biomedcentral.com)

The 3'UTR VNTR polymorphism regulates the expression of the DAT. (alquds.edu)
We recently identified a polymorphism in exon 6 (A138G) of the gene encoding CD45 (PTPRC) that results in altered CD45 splicing. (ox.ac.uk)
In this study we show that the A138G polymorphism is the cause of altered CD45 isoform expression, promoting splicing towards low molecular weight CD45 isoforms. (ox.ac.uk)

Instead an increase in osteoprotegerin production by the tumor results in an increase in apoptosis and hence decreased growth. (uni-wuerzburg.de)
Additionally, transfection with 50 nM miR‑125b mimics markedly reduced the mRNA and protein expression levels of TP53 in the cultured lens epithelial cells, and miR‑125b significantly induced apoptosis in the epithelial cells compared with negative control cells. (spandidos-publications.com)

Several polymorphisms in TS may influence TS mRNA transcription, stability, or protein expression. (biomedcentral.com)
This has come to be a range of "omics"-related tests, such as DNA variation, protein or mRNA expression, metabolites, and biomarkers. (usf.edu)

Glioblastoma (GBM), a very aggressive and incurable tumor, often results from constitutive activation of EGFR (epidermal growth factor receptor) and of phosphoinositide 3-kinase (PI3K). (sdbonline.org)
Further analyses of clinical datasets revealed correlations of the expression of HOTAIR with tumor metastasis and a poor survival rate in patients with UCC. (tmu.edu.tw)
We have also been manipulating the tumor cell lines used for injections to determine how expression of various molecules affects tumor homing to the bone or tumor growth. (uni-wuerzburg.de)
We have identified that in the absence of fibronectin using the Mx-promoter there is a significant decrease in blood vessel formation resulting in decreased proliferation and growth of the tumor cells. (uni-wuerzburg.de)

Therefore, wavy hair is a result from an incomplete dominance, and the characteristic is due to the mix of the two characteristics. (microbiologynote.com)
Our results show that astrocytes isolated from B6.129S6-Il10 tm1Flv /J homozygotes (IL-10 tm1/tm1 ) were prone to characteristics of A1 reactive astrocytes. (biomedcentral.com)
Our results verified the diverse impacts of HOTAIR variants on UCC susceptibility and clinicopathologic characteristics. (tmu.edu.tw)

The frequency of the C282Y variant averages 7% in Northern European and North American White populations, resulting in a 0.5% frequency of homozygotes (of whom 38-50% will develop biochemical evidence of iron overload but only 28% of men and 1% of women will develop clinical symptoms). (mhmedical.com)
It has also been documented that cases of oral epithelial dysplasia showing high expression level of MMP-1 developed into OSCC at higher frequency than cases with low expression of MMP-1 [ 21 ]. (biomedcentral.com)

We assessed the effect of the frameshift variant on EMC10 RNA and protein expression and evaluated EMC10 expression in normal human brain tissue using immunohistochemistry. (nih.gov)

Most individuals with one mutation remain asymptomatic, but they are at risk if exposed to environmental factors (most often drugs) that can induce overt phenotypical expression. (medscape.com)
The founder gene mutation common among South Africans encodes an enzyme with little or no residual activity that may be lethal in homozygotes. (medscape.com)
WS1 may be inherited in an autosomal dominant pattern or may be the result of a de novo mutation. (medscape.com)

Attribution: This strain was provided by the C. elegans Reverse Genetics Core Facility at the University of British Columbia, which is part of the International C. elegans Gene Knockout Consortium, which should be acknowledged in any publications resulting from its use. (umn.edu)

Here, we employ diverse CRISPR/Cas9 genome editing tools to generate a series of targeted lesions within the endogenous cis-regulatory module (CRM) required for kni expression in the L2 vein primordium. (elifesciences.org)

Interestingly, the resulting hyperplastic glia express high levels of key components of the lysosomal-autophagic compartment, including vacuolar-type H(+)-ATPase (V-ATPase) subunits and ref(2)P (refractory to Sigma P), the Drosophila homolog of SQSTM1/p62. (sdbonline.org)

Second is an increased proliferation due to an increased expression of the JAK-STAT pathway ligand Upd3 . (sdbonline.org)

Consistent with evidence in flies, neurospheres from patients with high V-ATPase subunit expression show inhibition of autophagy. (sdbonline.org)
Sodium channel β1 subunits modulate α subunit gating and cell surface expression and participate in cell adhesive interactions in vitro . (jneurosci.org)

Our results showed that participants with the 9-repeat genotype, which is known to be associated with less DAT expression and higher levels of dopamine, exhibited better performance in the learning phase than participants who were 10/10 homozygotes (higher DAT and less dopamine). (alquds.edu)

These results suggest that 14-3-3γ levels may be involved in the developmental manifestation of related neuropsychiatric diseases. (en-journal.org)
Furthermore, reverse transcription‑quantitative polymerase chain reaction and western blotting were conducted to detect expression levels of miR‑125b and TP53 in different groups of cells transfected with miR‑125b mimics or inhibitors. (spandidos-publications.com)

Accumulating evidence demonstrates that many of the 17 human UGTs characterized to date exhibit tissue-specific patterns of expression. (aspetjournals.org)
Some cause the expression of traits to deviate from the patterns predicted by Mendelian inheritance. (msdmanuals.com)
Expression of different patterns of alternatively spliced CD45 isoforms is associated with distinct functions. (ox.ac.uk)

Compared with their wild-type counterparts, IL-10 tm1/tm1 astrocytes exhibited higher expression of glial fibrillary acidic protein (GFAP). (biomedcentral.com)
A recent study of the disparity in breast cancer mortality between AA and EA women concluded that differences in mortality are driven by higher hazard rates of breast cancer death in AA women, irrespective of ER expression [ 9 ]. (cdc.gov)

These findings suggest that genetically altered expression of CTNNA3 might influence cellular adherence and epithelial barrier function in the airways and play a role in the pathogenesis of DA. (cdc.gov)

Using a custom SNP microarray we validated 150 SPGs in a cohort of 468 individuals, with every individual genome averaging 36 disrupted sequence variations, 15 in homozygote form. (biomedcentral.com)

Third is an increased expression of ImpL2 , which is an IGFBP7 homolog and can suppress metabolism. (sdbonline.org)

Patients with minimal expression are sometimes considered to have a forme fruste of the disorder. (msdmanuals.com)

[ 28 ] In fact, the predictive power of TCF7L2 variants disappears with lifestyle modifications or metformin treatment, although improved insulin sensitivity resulting from these changes directly opposes the pathologic influence of TCF7L2 variants. (medscape.com)

Genetic and physiological studies revealed that Sdk1 loss selectively disrupts S1-RGC visual responses, which result from a loss of excitatory and inhibitory inputs and selective dendritic deficits on this neuron. (elifesciences.org)
These results suggest that effects of β1 on sodium channel gating are dependent on the genetic background and signal transduction pathways present in the cell type used in heterologous expression and emphasize the importance of analyzing the effects of β1 in vivo . (jneurosci.org)
RESULTS@#Eight individuals in the study were all the Para-Bombay phenotypes, including 4 cases of B@*CONCLUSION@#There are varieties of molecular genetic mechanisms for Para-Bombay phenotypes. (bvsalud.org)
Early studies were promising, and apps for smart phones began to appear so that a prescriber could input the genetic test results from a few CYP variants and predict a starting dose and/or the maintenance dose required. (usf.edu)
Genomic imprinting is the differential expression of genetic material depending on whether it has been inherited from the father or mother. (msdmanuals.com)

Heterozygotes are WT with semi-dominant GFP expression in pharynx. (umn.edu)

These changes begin with the development of a compact, hard nucleus and regional opacity, which result in the occurrence of pathological cataracts. (spandidos-publications.com)

Activation of AMPK by low energy supply and phosphorylation of LKB1 results in an inhibition of mTOR , thus decreasing energy-consuming processes, in particular translation and, thus, cell growth. (sdbonline.org)

Our results show that β1 subunits play important roles in the regulation of sodium channel density and localization, are involved in axo-glial communication at nodes of Ranvier, and are required for normal action potential conduction and control of excitability in vivo . (jneurosci.org)

Heterozygotes are wild-type GFP+, and segregate wild-type GFP+, non-GFP gk3816 homozygotes, and Dpy GFP+ mIn1 homozygotes. (umn.edu)

Remarkably, the recurrent variant is likely the result of a hypermutable site and arose on distinct founder haplotypes. (nih.gov)

β1 subunits affect sodium channel gating and cell surface expression when expressed in heterologous cells in vitro . (jneurosci.org)

The variant arose on two founder haplotypes and results in significantly reduced EMC10 RNA expression and an unstable truncated EMC10 protein. (nih.gov)

eg, when a gene has 50% expressivity, only half the features are present or the severity is only half of what can occur with full expression. (msdmanuals.com)

Anatomy2

Organisms7

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Chemicals and Drugs48

Analytical, Diagnostic and Therapeutic Techniques and Equipment22

Phenomena and Processes39

Disciplines and Occupations1

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Named Groups4

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Allele13

Phenotype10

Heterozygote2

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Humans1

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Mutations5

Pax32

Gene Expression5

Genes6

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