Factor 4 gene. Medical search. Frequent questions

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
At least 10 mutations in the CFI gene have been identified in people with complement factor I deficiency, a disorder characterized by immune system dysfunction. (medlineplus.gov)
The mutations result in abnormal, nonfunctional, or absent complement factor I. (medlineplus.gov)
Mutations in the CFI gene have also been found in people with glomerulonephritis with isolated C3 deposits. (medlineplus.gov)
The CFI gene mutations identified in this disorder result in an abnormal or nonfunctional version of complement factor I. The defective protein allows uncontrolled activation of the complement system. (medlineplus.gov)
Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome. (medlineplus.gov)
To the our best of knowledge, this is the first study to report the existence of homozygous and heterozygous mutations at positions 554, 555 and 559 in exon 4 of SLC35A3 gene in Indian Holstein cattle. (researchgate.net)
While children have roughly a 50 percent chance of developing MODY if one of their parents has it, that does not mean mutations can't occur at random and appear in those without a family history of gene mutation. (healthline.com)
The gene mutations aren't the same for everyone, and they affect different organs in the body, meaning it's difficult to diagnose without genetic testing, and it can be more challenging to recognize glucose fluctuations commonly found in those who are newly diagnosed. (healthline.com)
The results of the full-length cDNA analysis of the PTPS gene showed that a total of 4 gene mutations were found. (hindawi.com)
PKU is a treatable autosomal recessive inherited metabolic disease and is categorized as per the different etiologies into PKU caused by mutations in the PAH gene resulting in decreased or loss of PAH activity and BH4D deficiency caused by a congenital defect of an enzyme in the synthesis or metabolism pathway of the coenzyme of PAH (BH4) [ 8 , 9 ]. (hindawi.com)
At least 50 mutations in the TCF4 gene have been found to cause Pitt-Hopkins syndrome, a condition characterized by severe intellectual disability and breathing problems. (medlineplus.gov)
Some mutations delete a few building blocks of DNA (nucleotides) within the TCF4 gene, while other mutations delete the TCF4 gene as well as a number of genes that surround it. (medlineplus.gov)
Still other TCF4 gene mutations replace single nucleotides. (medlineplus.gov)
TCF4 gene mutations disrupt the protein's ability to bind to DNA and control the activity of certain genes. (medlineplus.gov)
These gene mutations typically do not affect the TCF4 protein's ability to bind to other proteins. (medlineplus.gov)
More than 100 mutations, mostly missense mutations, have been identified in the factor VII gene located on chromosome 13. (medscape.com)
[ 4 ] Mutations have been identified throughout the gene, affecting all domains of the transcribed protein, most frequently the catalytic domain. (medscape.com)
Although individuals with the lowest factor VII levels are most likely to be symptomatic, patients with identical mutations may have marked differences in clinical bleeding, suggesting that other factors may contribute to the clinical manifestations of factor VII deficiency. (medscape.com)
Several HCFC1 gene variants (also known as mutations) have been identified in people with methylmalonic acidemia with homocystinuria, cblX type, which is one form of a disorder that causes developmental delay, eye defects, neurological problems, and blood abnormalities. (medlineplus.gov)
Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct. (nel.edu)
Mutations of SLC26A4 gene are one of the factors, which are at the base of congenital hearing losses. (nel.edu)
At present, the Human Gene Mutations database provides 124 recessive mutations of SLC26A4 gene. (nel.edu)
the remaining 45% of changes of this gene are unique mutations. (nel.edu)
Mutation screening of exon 15 gene BRAF revealed three types of mutations, i.e. (nel.edu)
In addition, more than 50 inherited cardiovascular conditions caused by deleterious mutations in a few genes have been recognized so far, with diagnostic tests increasingly available. (cdc.gov)
The disease is caused by mutations in a few genes related to low density lipoprotein (LDL) cholesterol. (cdc.gov)
It is possible that other mutations or predisposing factors are necessary for disease progression. (cdc.gov)

The developed system was validated by systematically deleting the most highly expressed genes encoding alternative sigma factors and several other regulatory genes within the chromosome of S. lividans TK24. (figshare.com)
4, 5 The process involves use of many evenly spaced polymorphic DNA markers to create landmarks across each chromosome. (bmj.com)
The gene for factor XI is located on chromosome 4. (medscape.com)
The TCF4 gene is involved in some cases of a condition called distal 18q deletion syndrome, which occurs when a piece of the long (q) arm of chromosome 18 is missing. (medlineplus.gov)
Distal 18q deletion syndrome can lead to a wide variety of signs and symptoms among affected individuals, depending on which genes in this part of chromosome 18 are affected. (medlineplus.gov)
The gene for human PF4 is located on human chromosome 4 . (wikidoc.org)
The IL-4 gene, IL-3, IL-5, IL-13, and CSF2 form a cytokine gene cluster on chromosome 5q. (fishersci.com)
In particular, IL-4 is located in close proximity to IL13 on the chromosome. (fishersci.com)
Further, the IL-4 gene, IL13 and IL5 are found to be coordinated by several long-range regulatory elements over a 120 kilobase range on the chromosome. (fishersci.com)
From a genetic point of view, people with Pitt Hopkins syndrome are missing a specific gene on their 18th chromosome that encodes for transcription factor 4 (Tcf4). (neurosciencenews.com)
Current literatures report a defect in the Son of sevenless-1 gene (SOS-1) on chromosome 2p21-p22 (HGF1) as a possible cause of this condition. (bvsalud.org)

The function of TFs is to regulate-turn on and off-genes in order to make sure that they are expressed in the desired cells at the right time and in the right amount throughout the life of the cell and the organism. (wikipedia.org)
A defining feature of TFs is that they contain at least one DNA-binding domain (DBD), which attaches to a specific sequence of DNA adjacent to the genes that they regulate. (wikipedia.org)
Transcription factors bind to either enhancer or promoter regions of DNA adjacent to the genes that they regulate. (wikipedia.org)
The preinitiation complex binds to promoter regions of DNA upstream to the gene that they regulate. (wikipedia.org)
Other transcription factors differentially regulate the expression of various genes by binding to enhancer regions of DNA adjacent to regulated genes. (wikipedia.org)
The CFI gene provides instructions for making a protein called complement factor I. This protein helps regulate a part of the body's immune response known as the complement system. (medlineplus.gov)
Gene expression must be appropriately maintained to regulate development, differentiation, and proliferation of cells. (intechopen.com)
The HCFC1 gene provides instructions for making a protein, called HCF-1, that helps regulate the activity of other genes. (medlineplus.gov)
HCF-1 helps regulate genes that are important in other cellular processes, such as progression of cells through the step-by-step process it takes to replicate themselves (called the cell cycle). (medlineplus.gov)
NAC transcription factors regulate the stress response in plants. (frontiersin.org)

Employing data related to genetic variants that alter factor XI levels, the investigators found that in these individuals, the odds ratios (ORs) for venous thrombosis and ischemic stroke were 0.1 and 0.47, respectively, with the OR for major bleeding being 0.7. (medscape.com)
Loss of function-variants in cohesin genes including RAD21 were found in individuals with holoprosencephaly of whom some demonstrated CdLS features as well (Kruszka et al. (springer.com)
Variants in the HCFC1 gene have also been found in individuals with X-linked intellectual disability. (medlineplus.gov)
The HCFC1 gene variants lead to production of an HCF-1 protein with reduced function. (medlineplus.gov)
Regarding the histopathological variants of PTC, mutation in BRAF gene was more frequent in classic variant of PTC as compared with follicular variant of PTC. (nel.edu)
However, because heart disease arises from complex interactions of genetic and environmental factors, genetic variants currently have little utility for predictive screening of healthy persons . (cdc.gov)

NCBI has become a central repository for genomic sequence data in humans and other species and has developed many other public databases, such as dbSNP (for single nucleotide polymorphisms, or SNPs) and Entrez Gene (for genes) ( 5 , 6 ). (cdc.gov)

We performed genome -wide DNA methylation (DNAm) and gene expression analyses of placentas by using microarrays (EPIC, Illumina) and mRNA sequencing, respectively. (bvsalud.org)
Recent global analyses of gene transcripts revealed that specific transcription factors (TFs) and their networking systems physiologically correspond to the onset of human diseases, including cancer. (intechopen.com)

Isolates from 259 episodes of gonorrhoea were tested by a PCR assay for the sac-4 gene. (bmj.com)
Cefoxitin (30g) was used as surrogate to determine phenotypic methicillin resistance in staphylococcus isolates, and the methicillin resistance ( mec A) gene was detected by conventional PCR assay. (who.int)
HER2 overexpression or HER2 gene amplification as determined by an accurate and validated assay (see sections 4.4 and 5.1). (who.int)

It is caused by a point mutation (G→T) at nucleotide position 559 of the gene, bovine solute carrier family 35 member 3 (SLC35A3). (researchgate.net)
The easiest way to think about MODY is that it's a subset of diabetes caused by a mutation in one of at least 14 genes in a person's DNA. (healthline.com)
All the children underwent coenzyme hydroxybiopterin and urinary pterin spectrum analysis, and the children with deficiency received gene mutation testing. (hindawi.com)
The gene mutation types of the 4 patients were P87S/D96N, N52S/G144R, D96N/P87S, and P87S/P87S, all of which were from their parents, which conformed to the law of autosomal recessive inheritance. (hindawi.com)
Phenylketonuria (PKU), a congenital metabolic disease [ 1 ], is caused by phenylalanine metabolism disorder resulting from phenylalanine hydroxylase deficiency in the liver due to chromosomal gene mutation, which often leads to central nervous system damage [ 2 , 3 ]. (hindawi.com)
In the event of a mutation in the gene encoding PAH, the activity of PAH synthesized by the liver is reduced or absent, or the deficiency of its coenzyme BH4 will lead to the blockage of the normal metabolic pathway of Phe in the body. (hindawi.com)
The mutation of BRAF gene is characteristic for PTC and poorly differentiated and/or undifferentiated cancers derived from PTC. (nel.edu)
The predominant mutation of this gene, reported in PTC, is a single transversion in exon 15 (T1799A), which results in substitution of valine to glutamate at residue 600 (BRAF V600E, formerly position 1796 and residue V599E). (nel.edu)
V600E mutation in BRAF gene was detected in 12/25 (48%) cases of PTC. (nel.edu)
In 2005, researchers discovered a mutation in the Janus Tyrosine Kinase 2 gene (JAK2 (V617F)), which plays a pivotal role in the regulation of blood cell production (Levine et al. (cdc.gov)
A genetic mutation causes increased plasma levels of prothrombin (factor II), predisposing to venous thrombosis. (msdmanuals.com)
Direct oral anticoagulants (DOACs) or warfarin can be used for prevention and treatment of venous thrombosis in patients with one (heterozygosity) or two (homozygosity) copies of the prothrombin 20210 gene mutation. (msdmanuals.com)

Mice homozygous for disruptions in this gene display immune system abnormalities involving development of both T and B cells and affecting susceptibility to both bacterial and viral infections as well as impaired thermogenic gene expression and energy expenditure. (jax.org)
In a prospective, nationwide study in France of Escherichia coli responsible for pneumonia in patients receiving mechanical ventilation, we determined E. coli antimicrobial susceptibility, phylotype, O-type, and virulence factor gene content. (cdc.gov)
There is evidence that, although incidence is almost always associated with environmental factors such as smoking or occupational exposure, susceptibility has a genetic component with early onset lung cancer following Mendelian inheritance. (bmj.com)
Past studies have mapped four susceptibility loci (Pas1-4) for pulmonary adenoma in which A/J and C57BL/6J (B6) mice have different alleles that affect incidence and multiplicity of tumours. (bmj.com)
We have also attempted to verify a series of differentially expressed candidate susceptibility genes to lung tumours in our previous microarray analysis with semiquantitative reverse transcriptase PCR (RT-PCR). (bmj.com)
4, 5 Four QTLs identified as pulmonary adenoma susceptibility (Pas) loci 1-4 have been mapped, respectively, to mouse chromosomes 6, 17, 19, and 9. (bmj.com)
Methods: This case-control study conducted in Srinagar, Kashmir (North India) between 2013 and 2015 was designed to evaluate risk induced due to MTH-FR 677C>T gene polymorphisms to contribute in susceptibility for migraine in Kashmir population (North India). (scirp.org)
Development of asthma is multifactorial and depends on the interactions among multiple susceptibility genes and environmental factors. (msdmanuals.com)

The number of transcription factors found within an organism increases with genome size, and larger genomes tend to have more transcription factors per gene. (wikipedia.org)
There are approximately 2800 proteins in the human genome that contain DNA-binding domains, and 1600 of these are presumed to function as transcription factors, though other studies indicate it to be a smaller number. (wikipedia.org)
Therefore, approximately 10% of genes in the genome code for transcription factors, which makes this family the single largest family of human proteins. (wikipedia.org)
Hence, the combinatorial use of a subset of the approximately 2000 human transcription factors easily accounts for the unique regulation of each gene in the human genome during development. (wikipedia.org)
With the release of a genome wide SNPs database, it has become feasible to analyse these genetically determined QTLs for genes polymorphic in these strains. (bmj.com)
Genome annotation disclosed 29 SARS-CoV-2 gene products - including 16 non-structural proteins, 4 structural proteins and 9 accessory factors. (news-medical.net)
A) SARS-CoV-2 genome annotation, predicting 29 virus gene products. (news-medical.net)

Note: TCF4 (Gene ID: 6925) and TCF7L2 (Gene ID: 6934) loci share the TCF4 symbol/alias in common. (nih.gov)
TCF4 is a widely used alternative name for T-cell-specific transcription factor 4 (TCF7L2) conflicting with the official symbol for transcription factor 4 (TCF4). (nih.gov)
The TCF4 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of many other genes. (medlineplus.gov)
On the basis of this action, the TCF4 protein is known as a transcription factor. (medlineplus.gov)
The TCF4 protein's inability to bind to DNA and control the activity of certain genes, particularly those genes involved in nervous system development and function, contributes to the signs and symptoms of Pitt-Hopkins syndrome. (medlineplus.gov)
People with this disorder whose deletions include the TCF4 gene usually have signs and symptoms of Pitt-Hopkins syndrome (described above) in addition to other features of distal 18q deletion syndrome that are likely associated with the loss of nearby genes. (medlineplus.gov)
So people with Pitt Hopkins have the syndrome because Tcf4 isn't around to turn the right genes on or off. (neurosciencenews.com)

Celera's discovery database (CDS 3.6, SNP 1.0) was scanned for SNPs in the Pas1-4 QTLs. (bmj.com)
All 11 selected SNPs within candidate genes were verified by polymerase chain reaction (PCR) sequencing. (bmj.com)

The Role of Splicing Factor SF3B4 in Congenital Diseases and Tumors. (nih.gov)
In other words, expression of specific genes might have relevance to pathogenesis of diseases. (intechopen.com)
With thousands of clinical trials to date, gene therapy is a flourishing strategy with great promise for the treatment of diseases impacting the nervous system. (frontiersin.org)
Increased knowledge of genomics over the past two decades has made it apparent that the traditional category of genetic diseases represents only those conditions in which the genetic contribution is particularly marked, whereas in fact diseases can be arrayed along a spectrum representing the varied contribution of genes and the environment. (who.int)
These conditions are described as genetic diseases because a defect in one or more genes or chromosomes leads to a pathological condition. (who.int)
Multifactorial disorders, on the other hand, where genetic and environmental factors interact, have not traditionally been considered to be genetic diseases. (who.int)
Others can arise from the presence of an abnormal gene in any autosome: if the gene is dominant, it results always in what is called a dominant condition, whereas if it is recessive many of these diseases appear only when the gene is inherited from both parents (and are thus called recessive conditions). (who.int)
The higher prevalence of genetic diseases in particular communities may, however, be due to some social or cultural factors. (who.int)

TFs work alone or with other proteins in a complex, by promoting (as an activator), or blocking (as a repressor) the recruitment of RNA polymerase (the enzyme that performs the transcription of genetic information from DNA to RNA) to specific genes. (wikipedia.org)
Other proteins such as coactivators, chromatin remodelers, histone acetyltransferases, histone deacetylases, kinases, and methylases are also essential to gene regulation, but lack DNA-binding domains, and therefore are not TFs. (wikipedia.org)
The transcription factor can either do this directly or recruit other proteins with this catalytic activity. (wikipedia.org)
Complement factor I and several related proteins protect healthy cells by preventing activation of the complement system when it is not needed. (medlineplus.gov)
We have learned that genes in mammalian cells are transcribed into messenger RNAs (mRNAs), which are to be translated into polypeptides (proteins). (intechopen.com)
Investigations to determine the contribution by factor VII polymorphisms, other hemostatic proteins, and environmental factors have not yielded specific predictors of bleeding risk. (medscape.com)
In short, from a total of 437 high-confidence interacting proteins that bind to one or more SARS-CoV-2 genes, the researchers have identified several gene products, M protein, NSP6, ORF3a, ORF6 and ORF7b that interacted with host cell membrane proteins and complexes. (news-medical.net)
HCF-1 interacts with proteins called transcription factors, which attach (bind) to specific regions of DNA and help control the activity of particular genes. (medlineplus.gov)
As a largest plant-specific transcription factor family, NAC domain proteins play an important role in plant development and regulation of abiotic stress tolerance. (frontiersin.org)
Polymeric materials such as lipids, proteins, and carbohydrates are primarily hydrolyzed by extracellular, hydrolases, excreted by microbes present in Stage 1 (Fig. 4-1). (fao.org)
The superfamily of insulin-like growth factor (IGF) binding proteins include the six high-affinity IGF binding proteins (IGFBP) and at least four additional low-affinity binding proteins referred to as IGFBP related proteins (IGFBP-rP). (rndsystems.com)

In humans, the wide variety of carcinogens and varying degrees of exposure make identifying the predisposing genes difficult, but in a mouse model, such confounding variables can be controlled. (bmj.com)
Identification of the genes predisposing to mouse lung cancer could have considerable implications for diagnosis, treatment, or chemoprevention of lung cancer in humans. (bmj.com)
Uncanny X-Men#322 (fb) - BTS) - Gene Nation attacked a disco, killing dozens of humans there in the name of mutants. (marvunapp.com)

For example, steroid and thyroid hormones directly bind to nuclear receptors, which induce expression of specific genes. (intechopen.com)

Transcription factors are essential for the regulation of gene expression and are, as a consequence, found in all living organisms. (wikipedia.org)
Transcription factors use a variety of mechanisms for the regulation of gene expression. (wikipedia.org)
GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
Par-4 enhanced the c-FLIP promoter activity and was recruited on to the c-FLIP gene in the presence of androgens, and the dominant-negative par-4 decreased c-FLIP expression. (endocrinology-journals.org)
These results suggest that, in addition to its proapoptotic function, par-4 acts as a novel transcription cofactor for AR to target c-FLIP gene expression. (endocrinology-journals.org)
Differential expression of six of seven candidate genes were confirmed. (bmj.com)
Imbalances or disturbances in gene expression are sometimes deleterious for living things. (intechopen.com)
Total RNA from tumors the expression of thousands of genes (3) to address complex questions was isolated using two successive rounds of Trizol. (lu.se)
HER-2/neu expression has been established as a prognostic factor in breast and other cancers. (nih.gov)
Representative σ 66 -dependent gene transcription was repressed in the absence of rsbV1 or upon increased expression of RsbW, and increased upon elevated expression of RsbV1. (plos.org)
The primary data for 1-step growth, 2-step growth and gene expression summarized in Figs 4 and 5 are available in the S1 Dataset in the supplementary information. (plos.org)
Expression varies depending on the nature of the gene. (origene.com)
One basic problem is how a decrease in tRNA levels, by downregulating Pol III efficiency, influences the expression pattern of protein-coding genes. (mdpi.com)
Abnormal expression of SLC26A4 gene results in disturbance of iodine organification. (nel.edu)
Multi-walled carbon nanotube -induced gene expression in the mouse lung: association with lung pathology. (cdc.gov)
At 7 and 56days post-exposure, a set of 7 genes and a set of 11 genes, respectively, showed differential expression in the lungs of mice exposed to MWCNT vs. the control group. (cdc.gov)
It was also found that the expression changes of these 4 overlapping genes at 7days post-exposure were attenuated at 56days post-exposure. (cdc.gov)

This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. (nih.gov)
This gene encodes one of four subunits of the splicing factor 3B. (nih.gov)

Defects in this gene are a cause of Pitt-Hopkins syndrome. (nih.gov)
They want to understand more about how Pitt Hopkins affects genes in brain cells responsible for both inhalation and exhalation before they try treatments. (neurosciencenews.com)

A combination of genetic and environmental factors likely determines the risk of developing this complex eye disorder. (medlineplus.gov)
Objective: Migraine, a common chronic neurological disorder involves a pathophysiology having both multiple genetic and environmental factors. (scirp.org)
Migraine pathophysiology involves both multiple genetic and environmental factors. (scirp.org)

Factor VII is one of the vitamin K-dependent coagulation factors synthesized in the liver. (medscape.com)
Monroe DM HM, Roberts HR. Molecular Biology and Biochemistry of the Coagulation Factors and Pathways of Hemostasis. (medscape.com)

The protein encoded by this gene cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes. (nih.gov)
In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence. (wikipedia.org)
The HER-2/neu gene was localized using the Oncor (Gaithersburg, MD) digoxigenin-labeled unique sequence probe. (nih.gov)
The molecular sequence of this clone aligns with the gene accession number as a point of reference only. (origene.com)

A study by Gill et al indicated that greater genetically determined levels of factor XI increase the risk of ischemic stroke arising from cardioembolisms, while not impacting ischemic stroke risk associated with large artery atherosclerosis or small artery occlusion. (medscape.com)

Transcription factors are members of the proteome as well as regulome. (wikipedia.org)
Below are some of the important functions and biological roles transcription factors are involved in: In eukaryotes, an important class of transcription factors called general transcription factors (GTFs) are necessary for transcription to occur. (wikipedia.org)
Transcription factors are divided into two groups. (intechopen.com)
It is thought that changes in these regions prevent HCF-1 from interacting with transcription factors, which disrupts normal gene activity. (medlineplus.gov)
The NAC domain transcription factors in Arabidopsis function in plant development, senescence, and stress regulation. (frontiersin.org)
Transcription factors help turn other genes on or off. (neurosciencenews.com)

There is an association of polymorphisms of the calcium channel alpha1-subunit gene with thyrotoxic periodic paralysis. (medscape.com)
However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. (origene.com)
Five identified allelic polymorphisms also affect plasma levels of factor VII and factor VIIa, with variations of as much as 25-30% in levels of activity and antigen. (medscape.com)

The authors studied DNA amplification of the HER-2/neu gene on 4-microm sections obtained from 62 formalin-fixed, paraffin-embedded PCs by fluorescence in situ hybridization (FISH). (nih.gov)
The authors conclude that HER-2/neu gene amplification status can be determined by FISH on archival prostate cancer specimens, significantly correlates with high tumor grade and nondiploid DNA content, and is more frequently encountered in tumors with advanced pathological stage. (nih.gov)

Thus Notch acts as both a ligand-binding receptor and a nuclear factor that regulates transcription. (novusbio.com)

To demonstrate the possibility of large scale genomic manipulations, the major part of the undecylprodigiosin gene cluster was deleted as well. (figshare.com)
The development of computational technology and methods to organize, archive, visualize, and share genomic data gave rise to the field of bioinformatics ( 4 ). (cdc.gov)

Our results show that one out of 60 bulls tested exhibited polymorphism (G→T) at position 559 in exon 4 of SLC35A3 gene. (researchgate.net)
exon 4 of SLC35A3 gene. (researchgate.net)
554, 555 and 559 in exon 4 of SLC35A3 gene in Indian Holstein cattle. (researchgate.net)

In mice, knockout of the gene for factor XI does not lead to death in utero. (medscape.com)

A total of 63 identified lung cancer prognostic biomarker genes and major signaling biomarker genes were analyzed in mouse lungs (n=80) exposed to 0, 10, 20, 40, or 80µg of MWCNT by pharyngeal aspiration at 7 and 56days post-exposure using quantitative PCR assays. (cdc.gov)

A common variation (polymorphism) in the CFI gene has also been associated with age-related macular degeneration (AMD). (medlineplus.gov)
Conclusions: We conclude that MTHFR gene C677T polymorphism has no role in predisposition to the migraine in our population and cannot serve as a predictive factor for the risk of migraine. (scirp.org)

Baracho GV, Nudelman V, Isaac L. Molecular characterization of homozygous hereditary factor I deficiency. (medlineplus.gov)

Twentieth-century developments in biology and statistics established genetics as a science and led to the discovery of causal loci for many single-gene disorders. (cdc.gov)

Specific factor VII assays are required for diagnosis. (medscape.com)
Factor assays in family members are indicated to identify other affected individuals. (medscape.com)

The lack (deficiency) of functional complement factor I protein allows uncontrolled activation of the complement system. (medlineplus.gov)
This condition, which may also occur in people with complement factor I deficiency, is characterized by kidney malfunction that can be serious or life-threatening. (medlineplus.gov)
Deficiency of factor XI is a congenital condition that is inherited in an autosomal-recessive fashion. (medscape.com)
Inherited factor VII (FVII) deficiency is a rare autosomal recessive hemorrhagic disorder. (medscape.com)
Inherited factor VII deficiency can be classified as type 1 or type 2, depending on the absence or presence of factor VII antigen in plasma. (medscape.com)
Factor XI is warranted when a deficiency of factor XI is suspected. (medscape.com)

Our study shows the effects of early alcohol exposure on human embryonic and extraembryonic cells , introduces candidate genes for alcohol-induced developmental disorders, and reveals potential biomarkers for prenatal alcohol exposure. (bvsalud.org)

The ability of factor VIIa to cleave other clotting factors depends on binding to its cofactor tissue factor (TF), which is expressed on the surface of endothelial cells and monocytes in response to injury or inflammation. (medscape.com)

A special issue of Genes (ISSN 2073-4425). (mdpi.com)

Deletion of SLIV_12645 gene encoding S. coelicolor SigR1 ortholog has the most prominent phenotypic effect, resulted in overproduction of actinorhodin and coelichelin P1 and increased sensitivity to diamide. (figshare.com)
The reported here gene deletion system will further facilitate work on S. lividans strain improvement as a host for either secondary metabolites or protein production and will contribute to basic research in streptomycetes physiology, morphological development, secondary metabolism. (figshare.com)
On the other hand, the systematic deletion of sigma factors encoding genes demonstrates the complexity and conservation of regulatory processes conducted by sigma factors in streptomycetes. (figshare.com)
An interstitial deletion del(4)(q12q12) generating a FIP1L1-PDGFRA fusion gene is observed in diverse eosinophilia-associated hematologic disorders like hyperseosinophilic syndrome (HES), systemic mastocytosis (SM) and chronic eosinophilic leukemia (CEL). (atlasgeneticsoncology.org)

This gene is broadly expressed, and may play an important role in nervous system development. (nih.gov)

Pneumonia isolates carried higher proportions of virulence genes sfa/foc , papGIII , hlyC , cnf1 , and iroN compared with bacteremia isolates. (cdc.gov)
Virulence factor gene content and antimicrobial drug resistance were higher in pneumonia than in commensal isolates. (cdc.gov)
The aims of this study were to determine the frequency of the sac-4 gene in a larger sample of isolates of different serovars and to assess the prevalence of sac-4 in gonococcal isolates from patients with and without coexisting chlamydial infection. (bmj.com)
Exact logistic regression analysis indicated significant differences in sac-4 prevalence in isolates of different serovars. (bmj.com)
The prevalence of sac-4 was 69.5% (41/59) in gonococcal isolates from patients with co-existing chlamydial infection compared with 57.9% (62/107) for those without chlamydial infection. (bmj.com)
1 Recently a gene, sac-4, was found in a high proportion of gonococcal isolates from patients with coexisting chlamydial infection and it was postulated that sac-4 increased the risk of development of mixed gonococcal and chlamydial infection. (bmj.com)
and to assess the prevalence of sac-4 in gonococcal isolates from patients with and without coexisting chlamydial infection. (bmj.com)
The prevalence of sac-4 was determined for each of the common serovars, arbitrarily defined as comprising more than 15 isolates each: serovars represented by less than 15 isolates were grouped together as "other 1A" and "other 1B" serovars (see table 1). (bmj.com)
Four of the 9 (44.4%) CoNS isolates were cefoxitin resistant and all the 4 (100%) carried mec A gene. (who.int)

Homozygous inactivation of this gene may lead to background sensitive prenatal lethality and results in abnormal cytokine secretion, higher IgE levels, ocular surface and perioral skin inflammation accompanied by hair loss, and severe atopic dermatitis-like skin lesions. (jax.org)

The criterion standard diagnostic test for fragile X syndrome involves molecular genetic techniques that detect the FMR1 gene. (medscape.com)
The so-called contact factors include factor XI, factor XII, high-molecular-weight kininogen (HK), and prekallikrein (PK). (medscape.com)
A model is proposed where the relative levels of active antagonist (RsbV1) and switch-protein anti-sigma factor (RsbW) control the availability of σ 66 and subsequently act as a molecular 'throttle' for Chlamydia growth and development. (plos.org)

Colorectal cancer (CRC) is a multifactorial disease, reflecting the interaction of hereditary and environmental factors. (cdc.gov)

They bind to the DNA and help initiate a program of increased or decreased gene transcription. (wikipedia.org)

In this review article, we outline key characteristics of major gene therapy viruses-adenovirus, adeno-associated virus (AAV), and lentivirus-and summarize the mechanisms regulating important steps in the virus journey from binding at peripheral nerve terminals to nuclear delivery. (frontiersin.org)

Androgen receptor (AR) is a ligand-activated transcription factor that mediates the action of androgens and is essential for the growth, function, and cell differentiation of the prostate gland. (endocrinology-journals.org)
Leukemia inhibitory factor via the Toll-like receptor 5 signaling pathway involves aggravation of cachexia induced by human gastric cancer-derived 85As2. (oncotarget.com)
85As2 cells displayed more genetic changes compared to MKN45cl85 cells, which were related to Toll-like receptor (TLR) 4/5 signaling. (oncotarget.com)
However, in 82As2 cells, LIF production was significantly increased by stimulation with TLR5, which was suppressed by an inhibitor of interleukin-1 receptor-associated kinase-1/4, which are important factors in the TLR5 signaling pathway. (oncotarget.com)
Interleukin-4 (IL-4) is a pleiotropic, immune-modulatory cytokine produced by activated T cells, and serves as a ligand for interleukin 4 receptor. (fishersci.com)
The interleukin 4 receptor also binds to IL13, which may contribute to many overlapping functions of this cytokine and IL13. (fishersci.com)

To clarify the mechanism underlying the difference in the cachexia-inducing ability of these cells, we conducted DNA microarray analysis, focusing on cell proliferation and the production of leukemia inhibitory factor (LIF), a cachexia-inducing factor. (oncotarget.com)
An analysis of the genes involved also suggests new hypotheses to explain the virus's association with microcephaly and GBS. (eurekalert.org)
A description of microorganisms involved in methane fermentation, based on an analysis of bacteria isolated from sewage sludge digesters and from the rumen of some animals, is summarized in Fig. 4-1. (fao.org)
Additionally, these significant genes could separate the control group from the treated group over the time series in a hierarchical gene clustering analysis. (cdc.gov)
Ingenuity Pathway Analysis (IPA) found that several carcinogenic-related signaling pathways and carcinogenesis itself were associated with both the 7 and 11 gene signatures. (cdc.gov)
The diagnosis is made by genetic analysis of the prothrombin 20210 gene using blood samples. (msdmanuals.com)

Numerous genetic, acquired, and environmental factors can tip. (msdmanuals.com)
The interaction of genes with each other and with environmental factors underlies many aspects of human health and disease. (who.int)

Chromatin modifier developmental pluripotency associated factor 4 (DPPA4) is a candidate gene for alcohol-induced developmental disorders. (bvsalud.org)

Correlations between the factor VII genotype, factor VII clotting activity and the clinical phenotype are not tight. (medscape.com)
It is reported to have a phenotype frequency of 1:175,000 and a gene frequency of 1:350,000 5 . (bvsalud.org)

Par-4 physically interacted with the DNA-binding domain of AR, enhanced AR interaction with DNA, and increased AR-dependent transcription. (endocrinology-journals.org)

Gene sequences from normal and carrier animals were compared using the software, codon code Aligner 4.0.4. (researchgate.net)
The transmembrane domain prediction also indicated that these viral gene products contain at least one transmembrane domain in their protein sequences - with the exception of ORF6, which is actually a short protein with only 61 amino acids. (news-medical.net)

Here we report the development of a robust gene deletions system for Streptomyces lividans TK24 based on a BAC library combined with the λ-Red recombination technique. (figshare.com)

Binding of factor XIa to activated platelets localizes it to the site of clot formation and protects it from plasma protease inhibitors. (medscape.com)
Several plasma protease inhibitors that circulate in high concentrations are capable of inhibiting factor XIa. (medscape.com)

Chlamydia trachomatis is an obligate intracellular human pathogen that exhibits stage-specific gene transcription throughout a biphasic developmental cycle. (plos.org)
The human platelet factor 4 kills malaria parasites within erythrocytes by selectively lysing the parasite's digestive vacuole. (wikidoc.org)
This DuoSet ELISA Development kit contains the basic components required for the development of sandwich ELISAs to measure natural and recombinant human IGFBP-4. (rndsystems.com)

Mutations28

Chromosome11

Regulate10

Variants6

Entrez Gene1

Analyses2

Assay3

Mutation12

Susceptibility8

Genome7

TCF47

SNPs2

Diseases8

Proteins11

Humans3

Specific genes1

Expression17

Encodes2

Pitt-Hopkins2

Genetic and environmental factors3

Coagulation factors2

Sequence4

Genetically determined1

Transcription factors6

Polymorphisms3

Amplification2

Regulates1

Genomic2

Exon3

Mice1

Prognostic1

Polymorphism2

Characterization1

Loci1

Assays2

Deficiency6

Biomarkers1

Endothelial1

ISSN1

Deletion4

Nervous system development1

Isolates9

Homozygous1

Molecular3

Multifactorial1

Bind1

Nuclear1

Receptor6

Analysis6

Environmental factors2

Disorders1

Phenotype2

Interaction1

Sequences2

Deletions1

Plasma protease inhibitors2

Human3