Binds gene amino factor xii deficiency. Medical search. Frequent questions

Most of the FGF8 gene mutations that cause Kallmann syndrome change single protein building blocks (amino acids) in the FGF8 protein. (medlineplus.gov)
Decreased serum essential and aromatic amino acids in patients with chronic pancreatitis. (healthmatters.io)
Low levels of essential amino acids may indicate a poor-quality diet, or maldigestion due to deficient digestive peptidase activity or pancreatic dysfunction. (healthmatters.io)
The RING finger protein 168 gene (RNF168) encodes a protein of 571 amino acids. (nature.com)
aa, amino acids. (nature.com)
The first two N-terminal amino acids can be cleaved from human CCL4 by CD26/DPPIV (10, 11). (rndsystems.com)
When combined with increased time spent indoors, reduced oxygen to cells, increased sugar consumption, poor nutrition lacking amino acids and trace minerals, and chronic stress cancer stem cells have a favorable environment to thrive. (cancertutor.com)
Results from these analyses demonstrated that the C-terminal domain of HER3 (CTD, amino acids distal to the tyrosine kinase domain) contained potent transactivation potential. (plos.org)
These analyses identified a bipartite region of 34 (B 1 ) and 27 (B 2 ) amino acids in length that conferred the majority of HER3's transactivation potential. (plos.org)
Blom A. M. , Webb J., Villoutreix B. and *Dahlbäck B. (1999) A cluster of positively charged amino acids in the N-terminal modules of C4BP a-chain is crucial for the C4b binding and factor I cofactor function. (lu.se)

Factor IXa, in turn, forms a complex with Factor VIIIa (FIXa-FVIIIa) and activates factor X. Physiological inhibitors of factor XIa include protein Z-dependent protease inhibitor (ZPI, a member of the serine protease inhibitor/serpin class of proteins), which is independent of protein Z (its action on factor X, however, is protein Z-dependent, hence its name). (wikipedia.org)
In the interaction with proteins, lead binds with virtually every available functional group, including sulfhydryl, amine, phosphate, and carboxyl groups, with sulfhydryl having the highest affinity. (cdc.gov)
This protein is part of a family of proteins called fibroblast growth factors that are involved in many processes, including cell division, regulation of cell growth and maturation, and development before birth. (medlineplus.gov)
1) Characterize novel families of oncoproteins (Pbx and Meis) that dimerize with and regulate the DNA binding properties of Hox proteins. (stanford.edu)
Our studies have demonstrated that several of the proteins encoded by cellular oncogenes function in fundamental aspects of gene regulation. (stanford.edu)
These are frequently activated by fusion to other transcriptional proteins resulting in chimeric transcription factors. (stanford.edu)
The multifunctional regulator nuclear factor erythroid 2-related factor (Nrf2) is considered not only as a cytoprotective factor regulating the expression of genes coding for anti-oxidant, anti-inflammatory and detoxifying proteins, but it is also a powerful modulator of species longevity. (springer.com)
The major characteristics of Nrf2 are to some extent mimicked by Nrf2-dependent genes and their proteins including heme oxygenase-1 (HO-1), which besides removing toxic heme, produces biliverdin, iron ions and carbon monoxide. (springer.com)
RNF8 and RNF168 docking at DSBs follow a hierarchical sequence, and while the pair of E3 enzymes have been envisaged to, in concerted efforts, assemble DNA repair factors by ubiquitylating core histone proteins, the molecular basis that underlies their strict order of appearance at DSBs has remained elusive. (nature.com)
Adipocyte-derived factors involved in tumor progression include proteins such as adiponectin, leptin, TNF-α, monocyte chemotactic protein-1 (MCP-1), IL-6, and ECM components that control tumor cell behavior within the tumor microenvironment. (jci.org)
Androgens (steroid hormones) are fat soluble, meaning they can pass into the cell's nucleus, bind to specific receptors and genes and trigger the cell to make proteins. (nfpt.com)
In this protocol you will learn about factors both inside your body and from the external environment that can damage skin, hair and nail proteins. (lifeextension.com)
The problem is intrinsic factors, such as the biological aging process, as well as extrinsic factors, such as ultraviolet radiation from sun exposure, compromise the structure and function of these proteins. (lifeextension.com)
Vitamin D3 stimulates the induction of calcium-binding proteins, enhancing calcium ion absorption via those channels. (nutrametrix.com)
The complement control protein (CCP) modules (also known as short consensus repeats SCRs or SUSHI repeats) contain approximately 60 amino acid residues and have been identified in several proteins of the complement system. (embl.de)
These modules have been identified more than 140 times in over 20 proteins, including 12 proteins of the complement system. (embl.de)
The UGT1 family constitutes a complex gene locus on human chromosome 2q37 and comprises 13 first exons that encode the unique N-terminal domains of the UGT1A proteins and exons 2 to 5 that encode the C-terminal domain, which is identical in all UGT1A family members ( Owens and Ritter, 1992 ). (aspetjournals.org)
Blom A. M . , Berggård K., Webb J. H., Villoutreix B., Lindahl G. and Dahlbäck B. (2000) Human C4b-binding protein has overlapping but not identical binding sites for C4b and streptococcal M-proteins. (lu.se)

The FXI gene is 23kb in length, has 15 exons, and is found on chromosome 4q32-35. (wikipedia.org)
The gene controlling the production of plasma FXI is on the distal end of the long arm of chromosome 4. (medscape.com)
To date, most identified mutations leading to severe FXIII deficiency and a bleeding disorder involve subunit A, with very few mutations reported involving subunit B. The gene for subunit A is located on chromosome 6 bands p24-25. (medscape.com)
The UGT2 family, in contrast, is encoded by separate genes clustered on chromosome 4q13 and consists of the UGT2A and UGT2B subfamilies. (aspetjournals.org)
Because these genes are located on the X chromosome, hemophilia affects males almost exclusively. (msdmanuals.com)
In these instances, the unaffected or normal X chromosome (with the normal factor VIII or IX gene) is preferentially inactivated. (msdmanuals.com)

FXI deficiency can result from mutations that impair either the synthesis of the FXI molecule or the secretion of the FXI molecule from the producing cell. (medscape.com)
Category 1 - Mutations that prevent or reduce synthesis of FXI polypeptide, including nonsense mutations such as Glu117Stop, frame shifts, deletions, splicing defects, and possibly amino acid substitutions that cause severe polypeptide instability. (medscape.com)
At least seven mutations in the FGF8 gene have been identified in people with Kallmann syndrome, a disorder characterized by the combination of hypogonadotropic hypogonadism (a condition affecting the production of hormones that direct sexual development) and an impaired sense of smell. (medlineplus.gov)
Researchers estimate that mutations in the FGF8 gene account for a small percentage of all cases of Kallmann syndrome. (medlineplus.gov)
These mutations reduce or eliminate the protein's function, including its ability to bind to FGFR1. (medlineplus.gov)
Some people with Kallmann syndrome resulting from FGF8 gene mutations have additional features, such as a split in the lip (cleft lip) with an opening in the roof of the mouth (a cleft palate), and a condition called bimanual synkinesis, in which the movements of one hand are mirrored by the other hand. (medlineplus.gov)
It is unclear how mutations in the FGF8 gene lead to these other signs and symptoms. (medlineplus.gov)
Some affected individuals have mutations in one of several other genes in addition to FGF8 , and these genetic changes may contribute to the varied features of the condition. (medlineplus.gov)
Several mutations in the FGF8 gene have been found to cause a form of hypogonadotropic hypogonadism that occurs without an impaired sense of smell. (medlineplus.gov)
This possibility is supported by the fact that Pit1 mutations cause compound pituitary hormone deficiency (CPHD) [11] in which expressions of the TSHβ gene as well as the prolactin (PRL) and growth LM22A-4 hormone (GH) genes are decreased or abolished. (bioerc-iend.org)
Initiation and propagation of tumors reflect underlying genomic alterations such as mutations, polymorphisms, and copy number variations found in genes of multiple cellular pathways. (hindawi.com)
There is strong evidence that inherited genetic factors (mutations plus single nucleotide polymorphisms) can play a major role in breast cancer susceptibility [ 1 ]. (hindawi.com)
Inherited mutations in a small number of genes account for about five to ten percent of women's cancers.These inherited variations, identified in breast, ovarian, and endometrial cancer susceptibility, can be characterized in the general population by their frequency and the magnitude of their impact upon a patient (Table 1 ).Some inherited variants occur rarely in the general population, but confer large risks to the individual. (hindawi.com)
Although inherited mutations in a small number of genes account for only about five to ten percent of women's cancers, by far the BRCA1 and BRCA2 gene mutations are the most common examples of this observation (50-70% of familial breast cancers) [ 2 ]. (hindawi.com)
Spinocerebellar ataxia type 35 (SCA35) is a rare, autosomal dominant neurodegenerative disorder associated with mutations in TGM6 gene that encode the protein transglutaminase 6 (TG6). (ataxia.org)
Mutations in this gene have been associated with an elevated risk for a variety of diseases and disorders, including schizophrenia, somatic anxiety, anger-related traits, bipolar disorder, suicidal behavior, addictions, and others. (nih.gov)
Hemophilia is an inherited disorder that results from mutations, deletions, or inversions affecting the factor VIII or factor IX gene. (msdmanuals.com)
1%) are typically large deletions or inversions or point mutations that disrupt gene expression. (msdmanuals.com)
In contrast, hemophilia that is mild or moderate typically involves with point mutations that result in an amino acid change (missense mutation). (msdmanuals.com)
Blom A. M. , Villoutreix B. O, and Dahlbäck B. (2003) Mutations in a-chain of C4BP that selectively affect its Factor I cofactor function. (lu.se)

Interleukin 22 binding protein (IL-22BP), also known as CRF2-10, CRF2-X, and IL-22 RA2, is a 35-45 kDa secreted glycoprotein in the type II cytokine receptor family (CRF). (rndsystems.com)
Folic acid works together with vitamin B 12 and vitamin C to metabolize protein in the body. (encyclopedia.com)
Lead also binds to metallothionein, a sulfhydryl-rich protein, but does not appear to displace cadmium or zinc. (cdc.gov)
The FGF8 gene provides instructions for making a protein called fibroblast growth factor 8 (FGF8). (medlineplus.gov)
FGF8 attaches (binds) to another protein called fibroblast growth factor receptor 1 (FGFR1) on the cell surface, which triggers a cascade of chemical reactions inside the cell. (medlineplus.gov)
Studies using GH3 cells showed that TRH-induced activity of the TSHβ promoter depends on protein kinase C but not the mitogen-activated protein kinase suggesting that the signaling pathway is different from that in the prolactin gene. (bioerc-iend.org)
TRH-bound TRH-R1 (TRH/TRH-R1) induces protein kinase C (PKC)- phosphophatidyl-inoshitol- and Ca2+-mediated pathways [8] [9]. (bioerc-iend.org)
Consistently TRH treatment does not enhance transcriptional activity of the fusion protein Gal4-Pit1 where the Pit1-derived transactivation domain was fused with the Gal4-DNA binding domain [19]. (bioerc-iend.org)
Nrf2 consists of six functional Neh domains (Neh1-Neh6), from which, the amino-terminal Neh2 domain controls binding Keap1-the inhibitor protein Kelch-like ECH-associated protein 1, that is responsible for the cytosolic sequestration of Nrf2 under physiological conditions (Fig. 2 a). (springer.com)
This may impair digestion, since histamine binds to H2 receptors located on the surface of parietal cells to stimulate gastric acid secretion, necessary for protein breakdown. (healthmatters.io)
This gastrointestinal dysfunction can, in turn, perpetuate histidine deficiency and therefore impair all protein digestion. (healthmatters.io)
Steroid hormones moving through the cell cytoplasm will form a hormone/receptor that moves into the nucleus of the cell attaching to the DNA binding sites, activating protein-producing genes. (nfpt.com)
These studies demonstrate that a Cys430-Phe mutation does not prevent the de novo synthesis of the b subunit, but alters the conformation of the mutant protein sufficiently to impair its intracellular transport, resulting in its deficiency in this patient. (embl.de)
The complement control protein (CCP) modules (also known as short consensus repeats) are defined by a consensus sequence within a stretch of about 60 amino acid residues. (embl.de)
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)
This focuses on the expression of the human tdp1 mutant gene in brain tissue of flies lacking the endogenous Gkt protein. (ataxia.org)
Also, urinary loss of both vitamin D and vitamin D binding protein (VDBP) has been reported in these individuals. (karger.com)
Webb, J. H., Villoutreix, B. O., Dahlbäck, B. and Blom A. M. (2001) Localization of a hydrophobic binding site for protein S on the b-chain of C4BP. (lu.se)
Blom, A. M. , Rytkönen, A., Vasquez, P., Dahlbäck, B. and Johnsson, A-B. (2001) A novel interaction between type IV pili of Neisseria gonorrhoeae and complement regulatory protein - C4b-binding protein. (lu.se)
Blom A. M. , Kask L. and B. Dahlbäck (2001) Structural requirements for the complement regulatory activities of C4b-binding protein. (lu.se)
Kask L., Hillarp A., Ramesh B., Dahlbäck B., and Blom A. M. (2002) Structural requirements for the intra-cellular subunit polymerization of the complement inhibitor C4b-binding protein. (lu.se)
Trouw L., Nilsson S., Goncalvez I., Landberg G. and Blom A. M. (2005) C4b-binding protein binds to necrotic cells and DNA, which limits DNA release and inhibits complement activation. (lu.se)
Sjöberg A., Trouw L., McGrath F., Hack E. C. and Blom A. M. (2006) Regulation of complement activation by C-reactive protein: targeting of the inhibitory activity of C4b-binding protein. (lu.se)

Using large amounts of folic acid (e.g., over 5,000 mcg per day) can mask a vitamin B 12 deficiency and thereby risk of irreversible nerve damage. (encyclopedia.com)
2. An obsolete term for vitamin B 12 . (unboundmedicine.com)
The amino acid histadine becomes histamine via a vitamin B6- dependent enzyme called histidine decarboxylase. (healthmatters.io)
Evaluation of tracer labelled methionine load test in vitamin B-12 deficient adolescent women. (healthmatters.io)
The serum phosphorus level may vary based on the etiology, trending towards higher values with reduced kidney function and lower values with vitamin D deficiency. (medscape.com)
Vitamin D deficiency is too common today affecting an estimated 1 billion people worldwide or 90 percent of the world's population. (cancertutor.com)
Dr. Michael Holick, a leading authority on Vitamin D research, predicts Vitamin D deficiency is the most common medical condition worldwide. (cancertutor.com)
Increasing concern for sunscreen use, reduced intake of Vitamin D in food and the increase in people working and playing indoors continues to contribute to the continued epidemic of Vitamin D deficiency. (cancertutor.com)
Vitamin D deficiency, especially during neonatal development, is believed to increase the risk of schizophrenia, multiple sclerosis and other diseases of the central nervous system. (cancertutor.com)
7 ) Vitamin D3 deficiency is one of the most common factors contributing for the ability of these cancer cells to proliferate and invade new tissue. (cancertutor.com)
Cancer is a multifactorial disease and Vitamin D deficiency increases autoimmune complications. (cancertutor.com)
Vitamin D deficiency, or the awareness of its prevalence, has also been increasing. (vitamindwiki.com)
We also address the potential role of vitamin D deficiency in the development of macro- and microvascular complications in diabetes. (vitamindwiki.com)
Vitamin D is a hormone regulating not only calcium and phosphate homeostasis but also, at the same time, exerting many other extraskeletal functions via genomic effects (gene transcription) and probably by non-genomic effects as well. (karger.com)
Yet, vitamin D deficiency and insufficiency are very common across the globe and are connected to many pathophysiological states, for example, diabetes mellitus, allergies, autoimmune diseases, pregnancy complications, and recently have also been associated with worse COVID-19 clinical outcomes. (karger.com)
Despite the significant effort in the last century to eradicate or minimize vitamin D deficiency among the population, especially children, there is still a high prevalence for vitamin D insufficiency/deficiency worldwide [ 1, 2 ]. (karger.com)
Vitamin D deficiency and insufficiency are also more common across type 2 diabetes mellitus (T2DM) patients. (karger.com)
Furthermore, some authors suggest that vitamin D deficiency may be a prominent element of CKD. (karger.com)
Vitamin D deficiency has been linked to rickets over 100 years ago. (karger.com)
However, it has much broader effects mediated by genomic (vitamin D directly or indirectly influences expression of up to 2,000 genes) as well as non-genomic mechanisms [ 1 ]. (karger.com)
Vitamin D deficiency also contributes to many extraskeletal outcomes, including higher risk of type 1 or type 2 diabetes mellitus, allergy, autoimmunity, pregnancy complications, and many other pathologies. (karger.com)
Vitamin D Deficiency: How Much Vitamin D Is Enough? (medicinenet.com)

unlike the soft tissue bleeds and hemarthroses that characterize hemophilia A and B, abnormal bleeding in FXI deficiency typically involves mucosal tissues, which are rich in fibrinolytic activity (eg, the oral and nasal cavities and urinary tract). (medscape.com)
The coagulation defect in plasma from these patients was corrected on mixing with plasma from patients with hemophilia, indicating that these patients lacked a factor different from those involved in hemophilia. (medscape.com)
[ 1 ] This disorder was found in both sexes and was understood to be inherited but was identified as being a less severe abnormality than that observed with hemophilia A and B. Hence, older terms for this disorder included Rosenthal syndrome, PTA deficiency, and hemophilia C. (medscape.com)
[ 1 ] Spontaneous joint and extensive muscle bleeding, characteristic of patients with severe hemophilia, are uncommon in patients with severe FXIII deficiency. (medscape.com)
A deficiency results in hemophilia A. (unboundmedicine.com)
Hemophilia A is an X-linked, recessive disorder caused by deficiency of functional plasma clotting factor VIII (FVIII), which may be inherited or arise from spontaneous mutation. (medscape.com)
Hemophilia A (factor VIII deficiency), which affects about 80% of patients with hemophilia, and hemophilia B ( factor IX deficiency) have identical clinical manifestations and screening test abnormalities. (msdmanuals.com)

It is one of the nutrients most often found to be deficient in the Western diet, and there is evidence that deficiency is a problem on a worldwide scale. (encyclopedia.com)
Thus, iodine deficiency was, in the past, the main pathogenic factor responsible, through a transient rise in TSH secretion, for the endemic nodular goiter with the characteristic colloid thyroid nodules among the inhabitants in iodine deficient areas. (mdpi.com)
Treatment includes replacement of the deficient factor if acute bleeding is suspected, confirmed, or likely to develop (eg, before surgery). (msdmanuals.com)

The report covers research from the authors' laboratories on the structure and regulation of UDP-glucuronosyltransferase (UGT) genes, glucuronidation of xenobiotics and endobiotics, the toxicological relevance of UGTs, the role of UGT polymorphisms in cancer susceptibility, and gene therapy for UGT deficiencies. (aspetjournals.org)
The relationship between VDR gene polymorphisms and onset pattern of diabetes was not significant. (who.int)
Recent advances have been made in the of host factors, polymorphisms, and candidate genes associated characterization of the immune response to low-molecular- with occupational asthma may improve our understanding of weight agents. (cdc.gov)

Endocannabinoids (eCBs) are endogenous lipid ligands that bind to cannabinoid receptors that also mediate the effects of marijuana. (degruyter.com)
Classically, HER family members function from the cell surface, where binding to cognate ligands can induce receptor homo- or hetero-dimerization with other HER family receptors [3] . (plos.org)
Membrane-bound HER receptors activate numerous tumor promoting signaling cascades via this mechanism, including the PI3K/AKT, Ras/Raf/Mek/Erk, PLCγ/PKC, and signal transducer and activator of transcription (STAT) pathways [1] , [2] . (plos.org)
While the classical membrane-bound functions of HER family RTKs have been extensively studied, accumulating data suggest that these receptors can be found in the cell's nucleus where they can function as co-transcriptional activators [4] , [5] . (plos.org)

Thyrotropin-releasing hormone (TRH) activates not merely the secretion of thyrotropin (TSH) but also the transcription of TSHβ and α-glycoprotein (αGSU) subunit genes. (bioerc-iend.org)
A missense mutation in seventh CCP domain causes deficiency of the b subunit of factor XIII. (embl.de)
Molecular and cellular basis of deficiency of the b subunit for factor XIII secondary to a Cys430-Phe mutation in the seventh Sushi domain. (embl.de)
We studied the defect responsible for deficiency of the b subunit for factor XIII in the first known case of this condition. (embl.de)

All patients were diagnosed in accordance with the classification standard of diabetes developed by the American Diabetes Association in 2018 [ 12 ]. (nature.com)

Pharmacological inhibitors of factor XI that are under clinical development but not yet approved for treatment as of May 2022[update] include the oral factor XIa inhibitors Asundexian (BAY 2433334) and Milvexian as well as the monoclonal anti-factor XI antibody Abelacimab (MAA868). (wikipedia.org)

Factor XI or plasma thromboplastin antecedent is the zymogen form of factor XIa, one of the enzymes of the coagulation cascade. (wikipedia.org)
[ 3 ] They identified the abnormality as a deficiency in a clotting factor, which they termed plasma thromboplastin antecedent (PTA). (medscape.com)

substitution in the GATA2-Zn finger domain or mutation of GATA-responsive element in the TSHβ gene. (bioerc-iend.org)
Antibody deficiencies are treated with intravenous immunoglobulin substitution therapy. (lu.se)
In certain metabolic disorders ( ADA and PNP deficiency) enzyme substitution therapy can be applied. (lu.se)
and, replacement of G-11499 by T in exon VIII, resulting in an amino acid substitution of Cys430 by Phe. (embl.de)

Factor XI (FXI) is produced by the liver and circulates as a homo-dimer in its inactive form. (wikipedia.org)
More importantly, recombinant versions of these viruses have proven to be useful as improved gene transfer vehicles to a variety of targets such as the liver, cardiac and skeletal muscle, and the brain. (upenn.edu)
For example, the rhesus isolate AAV8 has shown improved gene transfer to liver, muscle, and photoreceptors (1, 4) whereas the human isolate AAV9 is capable of crossing endothelial and blood-brain barriers that enable it to target the heart and central nervous system (5, 6). (upenn.edu)
Acquired causes of FXIII deficiency, such as DIC and liver disease, present in a well-recognized manner. (medscape.com)
The prothrombin gene and its liver-specific expression. (medscape.com)

Harel R, Shani D, Donohoe K. A case of congenital prothrombin deficiency and idiopathic thrombocytopenic purpura in a pregnant female. (medscape.com)
Association study of single nucleotide polymorphism in tryptophan hydroxylase 1 gene with adolescent idiopathic scoliosis: A meta-analysis. (nih.gov)

Interleukin (IL)-12, which is secreted by antigen-presenting cells, acts via signal transducer and activator of transcription (STAT)4 to promote the differentiation of naïve T cells into Th1 cells ( 9 - 11 ). (frontiersin.org)
Interleukin (IL)-12 and IL-23, cytokines induced during early stages of IBD, play important roles in differentiation of interferon (IFN)-γ/tumor necrosis factor (TNF)-producing Th1 cells as well as IL-17-producing Th17 cells. (frontiersin.org)
For example, the secreted cytokines of type 1 CD4þ T-helper cells (T H 1 cells) such as interleukin-2 (IL-2), IL-12, IFN-g, TNF-a and TNF-b are pro-inflammatory and exacerbate atherosclerotic disease, whereas T H 2 cytokines such as IL-4, IL-5, IL-10, and IL-13 are considered to be mainly atheroprotective and can counteract T H 1 cytokine activity/production. (researchgate.net)
Secretion of tumor necrosis factor (TNF)-α and interleukin (IL)-1 could induce obesity- and diabetes mellitus (DM)-related inflammation, however its association with SG procedure has not been elucidated well. (researchgate.net)

2. In genetics, a gene. (unboundmedicine.com)

Calcium deficiency also may increase lead absorption, based on studies in children. (cdc.gov)

encoded by Nfe2l2 gene) is a transcription factor responsible for the regulation of cellular redox balance and protective antioxidant and phase II detoxification responses in mammals [ 1 , 2 ]. (springer.com)
In humans, the ability of CCL4 to bind CCR5 inhibits the cellular entry of M-tropic HIV-1 which utilizes CCR5 as a coreceptor (2). (rndsystems.com)
This is because Drosophila genes controlling fundamental cellular functions, such as cell growth and death, are quite identical to those found in human cells. (ataxia.org)

Hyposomatotropism is a deficiency in the release of pituitary growth hormone (somatotropin), resulting in short stature. (medscape.com)
A pituitary-specific transcription factor Pit1 has been postulated to be a candidate mediator of TRH signaling in TSHβ gene regulation. (bioerc-iend.org)
Among the main stimulatory factors are the pituitary tropic hormones, thyroid-stimulating hormone (TSH) or thyrotropin and adrenocorticotropic hormone (ACTH), which regulate the growth and function of their respective target cells, and the insulin/insulin-like growth factor system, that, through its mitogenic effects, can stimulate the proliferation of these cells. (mdpi.com)

Using reporter assays with somato-lactotroph-derived GH3 [12] cells and gel shift assays Shupnik et al. (bioerc-iend.org)
it is confirmed by specific factor assays. (msdmanuals.com)
Specific factor assays are required to distinguish the two. (msdmanuals.com)

One contains a binding site for thrombin, another for high molecular weight kininogen, a third one for factor IX, heparin and glycoprotein Ib and the fourth is implicated in forming the factor XI homodimer, including a cysteine residue that creates a disulfide bond. (wikipedia.org)
Plasma FXI complexes with high-molecular-weight kininogen, which then aids in the binding of FXI to negatively charged surfaces. (medscape.com)
and high-molecular-weight kininogen, also called Fitzgerald , Flaujeac , or Williams factor , or contact activation cofactor . (unboundmedicine.com)

Like many other coagulation factors, it is a serine protease. (wikipedia.org)
Diagram from the traditional cascade-waterfall model of coagulation shows the place of factor XI in the intrinsic pathway, which leads to the common pathway. (medscape.com)
ABBR: AHF Coagulation factor VIII, a glycoprotein clotting factor essential for the formation of blood thromboplastin. (unboundmedicine.com)

We are studying the role that normal chromatin structure plays in gene regulation in hematopoietic cells and how its disruption leads to altered development and cancer. (stanford.edu)
These studies have provided fundamental insights into UGT gene structure and regulation, isozyme substrate selectivity, and interindividual variability. (aspetjournals.org)
Interindividual UGT variability likely plays an important role in drug efficacy and xenobiotic toxicity, as well as in hormonal regulation and certain diseases, which in some cases may be amenable to therapeutic manipulations including gene therapy. (aspetjournals.org)
Structure and Tissue-Specific Regulation of UGT Genes (P.I.M., P.A.G., Y.I., A.J.H. (aspetjournals.org)
Both genes showed an increase in transcript levels until 36 h after explant inoculation, and a subsequent down-regulation, before the initiation of exponential growth. (frontiersin.org)

Prevalence of factor V Leiden and prothrombin G20210A gene mutation. (medscape.com)
The metabolic syndrome: prevalence and associated risk factor findings in the US population from the Third National Health and Nutrition Examination Survey, 1988-1994. (tsu.ge)
OBJECTIVE: To estimate amyotrophic lateral sclerosis (ALS) prevalence, 5-year survival, and explore factors associated with survival in a Medicare population. (cdc.gov)

BMC Gastroenterol, 2021 Nov 12. (nih.gov)

TRH receptor (TRH-R) is encoded by two genes and generates TRH-R1 and 2. (bioerc-iend.org)
T3 inhibits transcription of the TSHβ gene via thyroid hormone receptor (TR) [1] and TSHβ manifestation increases in individuals with hypothyroidism. (bioerc-iend.org)
STAT4 also signals activation of the TF T-bet, a lineage-defining factor for Th1 differentiation, which upregulates the IL-12 receptor, IFN-γ expression, and causes further expansion of Th1 cells (Figure 1 ) ( 12 ). (frontiersin.org)
The ErbB/HER family of receptor tyrosine kinases (RTKs) consists of four family members: the epidermal growth factor receptor (EGFR/ErbB1), HER2 (ErbB2/Neu), HER3 (ErbB3), and HER4 (ErbB4). (plos.org)
The HER2 receptor does not bind to any known ligands, however, its dimerization arm is innately positioned in an open conformation. (plos.org)
Structure of the human insulin receptor gene and characterization of its promoter. (tsu.ge)

2) We have discovered a group of oncoproteins that are implicated in long-term maintenance of gene expression through their effects on the state of chromatin. (stanford.edu)
Therefore, TNF-α and IL-1 gene expression on the abdominal aorta of obese and DM rats that went through SG procedure were evaluated.METHODS: Fifteen rats were divided into 3 groups: lean-non-DM rats model (C1 group), obese-DM rats model (C2 group), and obese-DM rats model underwent SG (T group). (researchgate.net)
Patients with DN were more likely to have zinc deficiency and lower expression of Nrf2. (nature.com)
In this study, we sought to determine whether zinc deficiency affected Nrf2 expression in patients with DN and to ascertain the clinical and pathological features of DN patients with zinc deficiency. (nature.com)
We also analyzed the expression of Nrf2 in the kidneys of DN patients with zinc deficiency to clarify the relationship between zinc and Nrf2 in these patients. (nature.com)
The factors that govern this specificity of UGT expression remain largely unknown. (aspetjournals.org)
In the present study, we report a dynamic and correlated expression of carrot AOX genes ( DcAOX1 and DcAOX2a ) during PCS lag phase and during exponential growth. (frontiersin.org)
If expression of a trait requires only one copy of a gene (one allele). (msdmanuals.com)
Berry intake changes hepatic gene expression and DNA methylation patterns associated with high-fat diet. (lu.se)

His research efforts and novel technology have contributed to successful clinical programs of in vivo gene therapy for rare monogenic diseases developed by other companies, including Glybera® for familial lipoprotein lipase deficiency (AAV1), Luxturna® for RPE65-mediated retinal dystrophy (AAV2), and Zolgensma® for spinal muscular atrophy (AAV9). (upenn.edu)
The diagnosis of GHD is a multifaceted process requiring comprehensive clinical and auxologic assessment combined with biochemical testing of the GH-insulinlike growth factor (IGF) axis and radiologic evaluation. (medscape.com)
Additionally, DN patients with zinc deficiency were prone to have more severe clinical and pathological manifestations. (nature.com)
We further examined the association between AG and incident end-stage renal disease using frailty models, adjusting for demographics, clinical factors, BMI, serum albumin, bicarbonate, eGFR, and urinary albumin-to-creatinine ratio, by following 558 adults with moderate CKD for 12 years via the United States Renal Data System. (cdc.gov)

Given the importance of CD4 + Th cells in the disease process, this review will focus on how Th cells differentiate in the inflamed intestinal tract during IBD and how the Th lineage-specific cytokines and transcription factors (TFs) contribute to disease. (frontiersin.org)
interleukins, macrophage- associated cytokines such as tumour necrosis factor (TNF)-a, macrophage migration inhibitory factor (MIF), interferon (IFN)-g and colony stimulating factors (CSFs) have emerged as key factors in the pathogenesis of atherosclerosis. (researchgate.net)
The previous study found that many cytokines, including IL-1, IL-12, and IL-18, were consistently proatherogenic and were thought to be the primary causes of atherosclerosis. (researchgate.net)

1) Antibody deficiency disorders are defects in immunoglobulin-producing B cells . (lu.se)
Single-Gene Defects Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)

Hyperparathyroidism is a disease characterized by excessive secretion of parathyroid hormone, an 84-amino acid polypeptide hormone. (medscape.com)

Lactase deficiency (LD) is the failure to express the enzyme that hydrolyses lactose into galactose and glucose in the small intestine. (bmj.com)
The product of this gene is an enzyme that plays a key role in DNA repair processes whose defective activity causes failure to reseal broken DNA strands causing neurodegeneration. (ataxia.org)

Its insufficiency or deficiency can lead to many pathological states. (karger.com)

This gene encodes a member of the aromatic amino acid hydroxylase family. (nih.gov)

These cells primarily produce interferon (IFN)-γ and tumor necrosis factor (TNF) that, respectively, activate macrophages and direct cytotoxic CD8 + T cell responses, that in turn promote elimination of intracellular pathogens such as viruses and bacteria ( 8 ). (frontiersin.org)

Matched case-control study on factor V Leiden and the prothrombin G20210A mutation in patients with ischemic stroke/transient ischemic attack up to the age of 60 years. (medscape.com)
An example of this class of genes is a mutation in the CHEK2 gene in breast cancer. (hindawi.com)
Despite these advances made in identifying inherited breast cancer susceptibility genes, the vast majority of breast cancers are sporadic, that is, no identifiable mutation in one of the known breast cancer susceptibility genes. (hindawi.com)
The genetic alteration causative of SCAN-1 is a mutation altering the function of a gene called tdp1 (tyrosyl- DNA phosphodiesterase 1). (ataxia.org)
An Ancient Mutation in the TPH1 Gene is Consistent with the Changes in Mammalian Reproductive Rhythm. (nih.gov)

Mature mouse IL-22BP consists of two tandem Fibronectin type-III domains and shares 85% and 68% amino acid sequence identity with rat IL-22BP and the short isoform of human IL-22BP, respectively (6, 14). (rndsystems.com)
The discovery of the antioxidant response element (ARE) have led to the conclusion that the battery of genes, including glutamate-cysteine ligase (GCL), thioredoxin reductase 1 (Txnrd1), NAD(P)H-quinone oxidoreductase 1 (NQO1) and heme oxygenase-1 (HMOX1) is regulated through Nrf2 binding to this consensus binding sequence [ 3 ]. (springer.com)

3) T cell deficiencies result usually in combined immunodeficiencies (CIDs), where both T cells and antibody production are defective. (lu.se)
Patients with antibody deficiencies are especially susceptible to encapsulated bacteria, which cause pyogenic infections. (lu.se)

Hemophilias are common hereditary bleeding disorders caused by deficiencies of either clotting factor VIII or IX. (msdmanuals.com)

Low levels of factor XI also occur in many other disease states, including Noonan syndrome. (wikipedia.org)

Insulin-like growth factor system is activated during hyperinsulinemia, which alongside with insulin resistance and obesity forms basis for the development of metabolic syndrome. (tsu.ge)

Factor XIa activates factor IX by selectively cleaving arg-ala and arg-val peptide bonds. (wikipedia.org)
FXI remains on the surface and activates factor IX in plasma. (medscape.com)
During the reviewing of articles in the Pubmed and Google Scholar database, the attention was attracted on the insulin-like growth factor system, which activates the cell growth and proliferation. (tsu.ge)
Sjöberg A., Önnerfjord, P., Mörgelin, M., Heinegård, D. and Blom A. M. (2005) Extracellular matrix and inflammation: fibromodulin activates the classical pathway of complement by directly binding C1q. (lu.se)

The gene is 160 kilobases in length and has 15 exons and 14 introns with specific structural and functional domains. (medscape.com)

Elucidating the function of the mutated gene, ALMS1 , is critical for the development of specific treatments and may uncover pathways relevant to a range of other disorders including common forms of obesity and type 2 diabetes. (springer.com)

This heterogeneity appears to constitute the underlying cause for the focal cell hyperplasia and eventually the formation of thyroid and adrenal nodules, under the influence of growth stimulatory factors. (mdpi.com)
The predominance of one or the other of these growth stimulatory factors appears to determine the natural history of thyroid and adrenal nodular disease. (mdpi.com)

Patients with growth hormone deficiency (GHD) typically have hyperlipidemia, increased body fat, premature atherosclerotic plaques, delayed bone maturation, and impaired cardiac function. (medscape.com)
The diagnosis of growth hormone (GH) deficiency (GHD), or hyposomatotropism, remains controversial. (medscape.com)
Secretion of the TSH LM22A-4 molecule from thyrotroph and the transcriptions of TSHβ and αGSU genes are stimulated by the thyrotropin-releasing hormone (TRH) generated in the hypothalamic paraventricular nucleus. (bioerc-iend.org)
Beta-Carotene is also metabolized into retinoic acid, a hormone that promotes normal embryonic development and the transcription of the gene for growth hormone (5). (nutrametrix.com)

To accomplish this goal, various intracellular regions of HER3 were fused to the DNA binding domain of the yeast transcription factor Gal4 (Gal4DBD) and tested for their ability to transactivate Gal4 UAS-luciferase. (plos.org)

In contrast to hemophilias A and B, bleeding manifestations in FXI deficiency often show little correlation with the FXI level. (medscape.com)

Congenital deficiencies and abnormalities of prothrombin. (medscape.com)

IL-22BP is critical for limiting IL-22 induced epithelial cell proliferation during wound healing, and its deficiency can enable uncontrolled proliferation and enhance tumor development (12). (rndsystems.com)

Nrf2 is a master eukaryotic redox-active factor and belongs to Cap 'n' Collar (Cnc)-bZIP (basic leucine zipper) family of transcription factors. (springer.com)

50%). In patients undergoing surgery, the factor VIII or IX levels can be too low for normal hemostasis. (msdmanuals.com)
as a result of contaminated plasma or factor VIII or IX concentrates (before the development of effective viral inactivators). (msdmanuals.com)

During pregnancy, a folic acid deficiency may lead to preeclampsia, premature birth, and increased bleeding after birth. (encyclopedia.com)

due to its activation by FXIIa, FXI is a member of the "contact pathway" (which includes HMWK, prekallikrein, factor XII, factor XI, and factor IX). (wikipedia.org)

Factor XI (FXI) deficiency is a rare autosomal disorder that may be associated with bleeding. (medscape.com)
Bleeding associated with FXI deficiency is predictable neither within a patient nor within a family. (medscape.com)
Testing for inhibitors is indicated when bleeding is not controlled after adequate amounts of factor concentrate are infused during a bleeding episode. (medscape.com)
The extent of factor deficiency determines the probability and severity of bleeding. (msdmanuals.com)

Our previous cell and animal experiments confirmed that zinc supplementation could activate Nrf2 and up-regulate its downstream antioxidant factors, thus reducing oxidative damage to renal tubular epithelial cells and kidney tissues [ 11 ]. (nature.com)
Studies on the mechanisms that regulate UGT genes, in a temporal and tissue-specific manner, should contribute significantly to understanding the basis for these differences. (aspetjournals.org)

DcAOX genes' were further explored in a plant pot experiment in response to chilling, which confirmed the early AOX transcript increase prior to the induction of a specific anti-freezing gene. (frontiersin.org)

Activated factor XI can be inactivated by antithrombin III, alpha1-protease inhibitor, C1 inhibitor, and alpha2-antiplasmin. (medscape.com)

Options include factor replacement with fresh frozen plasma, antifibrinolytic therapy with tranexamic acid, and fibrin glue. (medscape.com)
Replacement of GH in adults with GHD markedly reduces central obesity and substantially reduces total cholesterol levels but has produced little change in other risk factors, particularly insulin resistance and dyslipidemia. (medscape.com)

His laboratory is responsible for discovering a new family of endogenous adeno-associated viruses (AAV) that have become best-in-class for in vivo gene therapy vectors. (upenn.edu)
Furthermore, modification of genetic susceptibility by environmental factors, both endogenous and exogenous, may alter the degree of penetrance. (hindawi.com)

Anatomy2

Diseases2

Chemicals and Drugs10

Disciplines and Occupations1

Information Science1

Acids10

Proteins18

Chromosome6

Mutations20

Protein23

Vitamin22

Hemophilia7

Deficient3

Polymorphisms3

Receptors4

Subunit4

20181

20221

Plasma thromboplastin antecedent2

Substitution4

Liver5

Idiopathic2

Interleukin4

Genetics1

Calcium1

Cellular3

Pituitary3

Assays3

High molecular3

Coagulation3

Regulation5

Prevalence3

20211

Receptor6

Expression9

Clinical4

Cytokines3

Defects2

Polypeptide1

Enzyme2

Insufficiency1

Aromatic1

Tumor Necros1

Mutation5

Sequence2

Antibody2

Hereditary1

Noonan1

Metabolic Syndrome1

Activates4

Functional1

Diabetes1

Thyroid2

Hormone4

Intracellular1

Manifestations1

Abnormalities1

Proliferation1

Transcription factors1

VIII2

Pregnancy1

Prekallikrein1

Bleeding4

Regulate2

Transcript1

Inhibitor1

Replacement2

Endogenous2