• Non-HLA genetic factors also influence sus- followed HIV-infected persons. (cdc.gov)
  • The relationships between the Arterial and venous thrombosis, which clinical presentation and FVII levels and the clinically manifest as stroke, myocardial in- associated molecular genetic defects lack farction or pulmonary embolism are a ma- apparent consistency [ 7,10 ]. (who.int)
  • Genetic factors levels vary significantly in the general pop- contribute significantly to the development ulation and are influenced by environmental of these diseases. (who.int)
  • 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)
  • Other contributors to genetic susceptibility, for example, polymorphisms, may have a higher relative contribution to risk, but their lower penetrance makes identification more difficult. (hindawi.com)
  • Furthermore, modification of genetic susceptibility by environmental factors, both endogenous and exogenous, may alter the degree of penetrance. (hindawi.com)
  • With the completion of the Human Genome Project in 2003 and the International HapMap Project in 2005, researchers now have a powerful set of research tools, including the high-speed DNA sequencing technology that make it possible to identify the genetic contributions to specific diseases, even if they are rare. (nature.com)
  • Its cause remains unknown, despite evidence that genetic, environmental, and immunological factors may play a role in its pathogenesis. (blogspot.com)
  • Further analysis of two overlapping deficiency lines and mutant alleles led to identification of genetic interactions between the CDK8-CycC pair and the components of the Decapentaplegic (Dpp, the Drosophila homolog of TGFβ, or Transforming Growth Factor-β) signaling pathway. (sdbonline.org)
  • The molecular changes found in oral SCC from Western countries (eg, United Kingdom, United States, Australia), particularly TP53 mutations, are infrequent in Eastern countries (eg, India, Southeast Asia), where the involvement of ras oncogenes is more common, suggesting genetic differences that might be involved in explaining the susceptibility of certain groups to oral SCC. (medscape.com)
  • What genetic factor is responsible for the Ag (that plays a role in the autoimmune response)? (brainscape.com)
  • Molecular genetic studies have identified at least three major susceptibility loci in large families from the United States, Canada, Germany, and Italy. (medscape.com)
  • Ataxia-telangiectasia (A-T) is a multisystem, cancer-predisposing genetic disorder caused by deficiency of the ATM protein. (wustl.edu)
  • This pattern is mainly due to the high genetic differentiation among neighbouring populations. (uni-frankfurt.de)
  • Since these populations revealed high genetic diversity in both marker systems, I suggest these areas to represent postglacial zones of secondary contact among divergent lineages of D. galeata. (uni-frankfurt.de)
  • In order to reveal the relationship between population genetic structure of D. galeata and the relative contribution of environmental factors, I used a statistical framework based on canonical correspondence analysis. (uni-frankfurt.de)
  • Although I detected no single ecological gradient mediating the genetic differentiation in either lake regions, it is noteworthy that the same ecological factors were significantly correlated with intra- and interspecific genetic variation of D. galeata. (uni-frankfurt.de)
  • For example, I found a relationship between genetic variation of D. galeata and differentiation with higher and lower trophic levels (phytoplankton, submerged macrophytes and fish) and a relationship between clonal variation and species diversity within Cladocera. (uni-frankfurt.de)
  • Changes in mitochondrial DNA are among the best-studied genetic factors associated with age-related hearing loss. (medlineplus.gov)
  • This condition results from a combination of genetic, environmental, and lifestyle factors, many of which have not been identified. (medlineplus.gov)
  • The aim of this study was to determine the causal role of these genetic variants, to establish pathogenicity, and to identify potential candidates eligible for the new hypoxia-inducible factor-2 α (HIF-2α) inhibitor treatment. (bvsalud.org)
  • Other vitamin K-dependent factors include prothrombin, factors IX and X, and proteins C and S. (medscape.com)
  • Latest achievements involve production of medically important proteins like anti-clotting factors through expression of the gene in lactating cows, goats and pigs. (freeonlineresearchpapers.com)
  • The key regulator of this process, hypoxia inducible factor 1 (HIF-1), can initiate apoptosis by inducing high concentrations of proapoptotic proteins, such as BNIP3, and can cause stabilisation of p53. (bmj.com)
  • Hemophilia is the group of bleeding disorders that are caused by a deficiency of proteins (factors) of the blood clotting cascade. (medicalbiochemist.com)
  • The full-length human factor VIII are 280kda protein and the expression are less efficient compared with other proteins of similar size. (medicalbiochemist.com)
  • To dissect the A-T phenotype, we augmented specific features of the human disease by generating mouse strains that combine Atm deficiency with dysfunction of other proteins. (wustl.edu)
  • 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)
  • The mitochondrial genes associated with cytochrome c oxidase deficiency provide instructions for making proteins that are part of a large enzyme group (complex) called cytochrome c oxidase (also known as complex IV). (medlineplus.gov)
  • The alpha granules contain hemostatic proteins such as fibrinogen, vWf, and growth factors (eg, platelet-derived growth factor and transforming growth factors). (medscape.com)
  • In 1951, Alexander and colleagues identified factor VII as the key initiator of coagulation when they reported the first case of factor VII deficiency in a child and called it serum prothrombin conversion accelerator deficiency. (medscape.com)
  • Serum circulating 25-hydroxyvitamin D (25(OH)D) level is considered as the best indicator of the body vitamin D status, and although still debated, most experts defined vitamin D deficiency as 25(OH)D levels lower than 20 ng/mL [ 4 , 5 ]. (hindawi.com)
  • Select suitable diagnostic tests, such as serum vitamin C levels or leukocyte vitamin C levels, to aid in accurately assessing vitamin C deficiency and treatment response. (statpearls.com)
  • The highest prevalence of HIV occurs in parts of the effects are complex and may depend on Asia and sub-Saharan Africa. (cdc.gov)
  • For instance, in a European study involving more than 8500 postmenopausal women, the prevalence of 25(OH)D deficiency reached 32.1% when considering the cutoff value of 20 ng/mL [ 9 ], while in Indian, Chinese, and US populations of postmenopausal women, the estimated prevalence rates were 53.3%, 72.1%, and 53%, respectively [ 10 - 12 ]. (hindawi.com)
  • Although α 1 -antitrypsin (AT) deficiency (AT-D) is one of the most common hereditary disorders in Europe, AT-D prevalence varies markedly from one country to another, as well as from one region to another within a given country 1 . (ersjournals.com)
  • 2. Despite current achievements, TB still remains a major public health problem due to continued high incidence, prevalence and mortality. (who.int)
  • This parasite requires the use of 8-aminoquinoline drugs to prevent relapses from liver hypnozoites, but high prevalence of glucose-6-phosphate dehydrogenase deficiency in the endemic human populations makes it difficult to adopt this treatment regimen. (intechopen.com)
  • During her outreach in the community as a speaker on a healthy diet and active lifestyles, or carrying out nutritional assessments as part of a screening programme, she became aware of the prevalence of vitamin D deficiency among children and adolescents in Egypt and its undesirable consequences. (who.int)
  • Inherited deficiency of factor VII (FVII), the crucial enzyme triggering blood coagulation, is the most common of the rare coagulation disorders transmitted in an autosomal recessive manner. (medscape.com)
  • Molecular characterization and expression of heparan-sulfate 6-sulfotransferase. (nih.gov)
  • Molecular characterization and gene expression of lhcb5 gene encoding CP26 in the light-harvesting complex II of Chlamydomonas reinhardtii. (bio.net)
  • Factor XII deficiency is a rare disorder that is inherited in an autosomal recessive manner. (wikipedia.org)
  • [9] Ratnoff later found that the Hageman factor deficiency is an autosomal recessive disorder, after examining several related people who had the deficiency. (wikidoc.org)
  • Multiple factor XII inhibitors have been developed and some of them are in clinical trials The gene for factor XII is located on the tip of the long arm of the fifth chromosome (5q33-qter). (wikipedia.org)
  • Macrophage IL-12 induction is enhanced by iNOS inhibitors such as aminoguanidine and thiocitrulline and is inhibited by NO generation via sodium nitroprusside. (lookformedical.com)
  • In addition, the development of inhibitors decreases the efficacy of the exogenous replacement factor and the severe hemophilia patients do not respond to these therapies. (medicalbiochemist.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 current study focuses on developing estimates of the numbers of individuals carrying the two most common deficiency alleles, PI*S and PI*Z, for α 1 -antitrypsin deficiency (AT-D) in Europe. (ersjournals.com)
  • What are the high risk alleles for developing T1D? (brainscape.com)
  • Our data thus suggest that Bruton's tyrosine kinase participates in signaling for iNOS induction via IFN regulatory factor-1 in macrophages and that NO is an inhibitor of IL-12 induction. (lookformedical.com)
  • Factor VII is synthesized in the liver and secreted as a single-chain glycoprotein of 48 kd. (medscape.com)
  • The present invention provides a simple and robust human liver cell-based system in which persistent hepatitis C infection, persistent hepatitis B infection or ethanol exposure induces a clinical Prognostic Liver Signature (PLS) high-risk gene signature. (sumobrain.com)
  • 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)
  • Rangarajan et al, 2017 reported the mild increase in alanine transaminase activity with a persistent increase in factor VIII activity in 6/7 subjects infused with 6X 10e13 viral genome load and the absence of any other elevated liver function parameters. (medicalbiochemist.com)
  • Mutations in at least three mitochondrial genes can cause cytochrome c oxidase deficiency, which is a condition that can affect several parts of the body, including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. (medlineplus.gov)
  • Its advantages are high SNR efficiency and the ability to acquire the entire liver in a breath hold without acceleration techniques. (bvsalud.org)
  • The discovery of vitamin K-dependent factors evolved slowly, after the initial identification of the role of prothrombin in blood clotting 100 years ago. (medscape.com)
  • Factor VII is a vitamin K-dependent serine protease glycoprotein (also known as stable factor or proconvertin) with a pivotal role in hemostasis and coagulation. (medscape.com)
  • Warfarin inhibits the activity of vitamin K epoxide reductase and prevents recycling of vitamin K back to the reduced form, thus interfering with the synthesis of factor VII and other vitamin K-dependent factors. (medscape.com)
  • Vitamin D deficiency leads to rickets in children and osteomalacia in adults, and long-term insufficiency contributes to osteoporosis [ 2 , 3 ]. (hindawi.com)
  • Lack of exposure to sunlight, which is the primary source of vitamin D, poor nutrition, and a decrease in the capacity to produce vitamin D 3 in the skin are the main hypothesized causative factors of vitamin D inadequacy in this subpopulation [ 6 ]. (hindawi.com)
  • Hence, not surprisingly, postmenopausal women from different countries were reported to be particularly vulnerable to vitamin D deficiency, which leads numerous international health authorities and medical societies to produce recommendations for the management of postmenopausal osteoporosis by maintaining adequate vitamin D levels by supplementation. (hindawi.com)
  • Nevertheless, there is accumulating evidence of the frequent occurrence of subclinical vitamin D deficiency in populations living in sunny countries [ 13 - 17 ]. (hindawi.com)
  • Vitamin C deficiency, commonly called scurvy, is a well-documented nutritional disorder with historical significance that continues to impact global health today. (statpearls.com)
  • Vitamin C deficiency is often linked to low socioeconomic status, food insecurity, and limited access to nutritious foods. (statpearls.com)
  • Classic signs of vitamin C deficiency include corkscrew hairs, perifollicular hemorrhages, and gingival bleeding. (statpearls.com)
  • Assess the effectiveness of treatment by regularly monitoring patients' clinical improvement and resolution of symptoms associated with vitamin C deficiency. (statpearls.com)
  • Collaborate with an interprofessional team, including dentists, dietitians, and pharmacists, to provide holistic care and optimize outcomes for patients with vitamin C deficiency. (statpearls.com)
  • Scurvy is a clinical syndrome resulting from vitamin C deficiency. (statpearls.com)
  • During the 1700s, James Lind, a British Royal Navy surgeon, made the significant discovery that the consumption of lemons and oranges alleviated the symptoms of vitamin C deficiency. (statpearls.com)
  • [2] In the 1920s, Albert Szent-Györgyi, a Hungarian biochemist, discovered the molecular structure of vitamin C and named it ascorbic acid, meaning anti-scurvy. (statpearls.com)
  • The primary cause of vitamin C deficiency is due to inadequate nutritional intake. (statpearls.com)
  • As vitamin C is sensitive to heat, cooking foods at high temperatures can cause the vitamin to decompose. (statpearls.com)
  • [9] Fresh fruits and vegetables possess higher vitamin C content compared to frozen or canned foods. (statpearls.com)
  • The present review aimed to discuss the negative effects of certain vitamin and mineral deficiencies, such as vitamin D, magnesium, and omega‑3 fatty acids, on the central nervous system. (spandidos-publications.com)
  • In summary, our results demonstrated that serotonin deficiency affects neuroplastic mechanisms following a specific temporal pattern and influences the response to an acute stress. (frontiersin.org)
  • However, the n-3 PUFAs deficiency-mediated mechanisms affecting the development of the central nervous system are poorly understood. (nature.com)
  • To understand the mechanisms by which n-3/n-6 PUFA imbalance affects CNS development, we investigated the impact of maternal dietary n-3 PUFA deficiency on offspring's microglia, the resident immune cells involved in CNS development and homeostasis 11 . (nature.com)
  • Drosophila has been a powerful system for deciphering the conserved mechanisms that regulate hormone signaling, sugar and lipid homeostasis, and the molecular mechanisms underlying the nutritional regulation of development. (sdbonline.org)
  • The molecular mechanisms of ecdysone-regulated metamorphosis and developmental timing have been studied extensively in Drosophila. (sdbonline.org)
  • In the present study, a bioinformatics approach was used to investigate the molecular mechanisms and prognosis of ACC. (cancerindex.org)
  • It is the zymogen form of factor XIIa, an enzyme (EC 3.4.21.38) of the serine protease (or serine endopeptidase) class. (wikipedia.org)
  • 5 ]. Hepatitis C virus and human immuno- bodies we used a third generation enzyme deficiency virus (HIV) co-infection in hae- immunoassay (HCV EIA, United Biomedi- mophilia patients is common and causes a cal Inc., Hauppauge, New York). (who.int)
  • The disorder results from the deficiency of the enzyme glucocerebrosidase. (medscape.com)
  • Here we review recent advances in the study of Al in plants at physiological, biochemical and molecular levels, focusing mainly on the beneficial effect of Al in plants (stimulation of root growth, increased nutrient uptake, the increase in enzyme activity, and others). (frontiersin.org)
  • Based on the seminar role of factor XII in thrombosis while sparing haemostats, targeting the protease has emerged as a promising drug traget for safe anticoagulant drugs that in contrast to currently used anticoagulants, do not increase bleeding. (wikipedia.org)
  • Mice lacking the gene for factor XII, however, are less susceptible to thrombosis. (wikipedia.org)
  • Excess levels of factor XII can predispose individuals towards greater risk of venous thrombosis due to factor XII's role as one of the catalysts for conversion of plasminogen to its active fibrinolytic form of plasmin. (wikipedia.org)
  • Since then, case studies and clinical studies identified an association between thrombosis and Factor XII deficiency. (wikidoc.org)
  • The Mary Rodes Gibson Memorial Award in Hemostasis and Thrombosis was established to recognize the trainee (undergraduate student, medical student, graduate student, resident physician, or post-doctoral fellow) who is the first author and presenter of the highest-scoring abstract submitted to the ASH Annual Meeting in the field of hemostasis and thrombosis. (hematology.org)
  • Under physiological circumstances, the resistance of the endothelial cell lining to interactions with platelets and coagulation factors prevents thrombosis. (medscape.com)
  • Post-natal deficiency of omega-3 fatty acids: its role on cocaine-seeking behaviors and drug withdrawal severity. (upr.edu)
  • Advances in molecular biology have led to the creation of entirely new fields of science. (americascupmagazine.com)
  • In animals, the amount of juvenile growth is controlled by the coordinated timing of maturation and growth rate, which are strongly influenced by the environmental factors such as nutrient availability. (sdbonline.org)
  • Also, nutrient deficiency (P, Mg, and K) and toxicity by other metals (Mn and Fe) may occur. (frontiersin.org)
  • We found a significant increase, in both gene and protein expression, of the neurotrophin brain-derived neurotrophic factor (BDNF), in the prefrontal cortex (PFC) of adult TPH2-deficient (TPH2 −/− ) male and female rats in comparison to wild type (TPH2 +/+ ) counterparts. (frontiersin.org)
  • Immunocytochemical studies showed marked activation of microglia and astroglia, and cytokine profiling indicated that macrophage chemoattractant protein (MCP)-1 and tumor growth factor-beta1, derived from neuroglia, were the most prevalent cytokines in brain tissues. (blogspot.com)
  • Induction of the inducible NO synthase (iNOS) protein, the transcription factor IFN regulatory factor-1 involved in iNOS expression, and the transcription factor STAT-1 involved in regulating IFN regulatory factor-1 induction are all poorer in X-linked immunodeficient than in wild-type macrophages. (lookformedical.com)
  • The final model, which comprises 5312 protein atoms (residues 1 to 686) and 28 carbohydrate atoms (from two monosaccharides attached to Asn(473)), gives an R-factor of 0.231 for the 11,989 observed reflections between 20.0- and 3.0-A resolution. (lookformedical.com)
  • Hemophilia A is caused by the deficiency of factor VIII protein and Hemophilia B is caused by a downstream protein factor IX. (medicalbiochemist.com)
  • The deletion of factor VIII B domain resulted in a 17-fold increase in mRNA level and a 30% increase in secreted protein. (medicalbiochemist.com)
  • The subject should have at least 12 bleeding event in 12 months from the date of enrollment and must be on the prophylactic treatment of recombinant factor VIII protein. (medicalbiochemist.com)
  • In contrast, increasing genomic instability by combining deficiencies of Atm and the mismatch repair protein Mlh1 caused a moderate increase in radiation sensitivity and dramatic increase in aggressive lymphomas, compared with thes Atm-/- single knockout. (wustl.edu)
  • The genomic region on chromosome 15, which contains the gene for the c-Myc oncoprotein, was commonly amplified, and elevated levels of the c-Myc protein were subsequently observed in the tumors. (wustl.edu)
  • To examine the role of protein kinase C as a chronic regulator of proximal tubule Na/H antiporter activity, the effect of phorbol 12-myristate 13-acetate (PMA) on the Na/H antiporter was studied in cultured proximal tubule cells. (jci.org)
  • 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 regions most commonly identified thus far have included some on the short arm of chromosome 3, a TSG termed P16 on chromosome 9, and the TSG termed TP53 on chromosome 17, but multiple other genes are being discovered. (medscape.com)
  • HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes. (nih.gov)
  • [ 28 ] As with other common diseases, RLS may ultimately prove to have a polygenic basis and complex interactions of genes with environmental factors. (medscape.com)
  • Oral high-dose coenzyme Q 10 is usually effective to treat mitochondrial disorders that are caused by mutations in coenzyme Q 10 biosynthetic genes . (oregonstate.edu)
  • Inoculation with a high dose strains of LMP1 transgenic mice vide a powerful tool in mechanistic of EBV caused a B-cell lymphopro- were established that express LMP1 studies on the role of individual viral liferative disorder in these mice, under the control of the immunoglob- genes in cancer. (who.int)
  • Factor XII (FXII, Hageman factor) is a plasma glycoprotein of approximately 90 kDa molecular weight is part of the coagulation cascade and activates factor XI and prekallikrein in vitro. (wikipedia.org)
  • Hageman factor was first discovered in 1955 when a routine preoperative blood sample of the 37-year-old railroad brakeman John Hageman (1918) was found to have prolonged clotting time in test tubes, even though he had no hemorrhagic symptoms. (wikidoc.org)
  • Hageman was then examined by hematologist Oscar Ratnoff , who found that Hageman lacked a previously unidentified clotting factor. (wikidoc.org)
  • The third class, composed of high-risk variants that are also common in the population, has never been identified by the methods presently available and may in fact not exist because it may well be strongly selected against in populations. (hindawi.com)
  • Finally, a fourth class of inherited variants includes those that confer low disease risk to the individual, but occur at higher frequencies in populations. (hindawi.com)
  • Strong government stewardship, universal access, reaching vulnerable populations, engagement of civil society and communities as well as adoption of new technologies have also been recognised as critical factors for ending the TB epidemic. (who.int)
  • Most populations were characterised by deviations from H-W equilibrium and significant heterozygote deficiencies. (uni-frankfurt.de)
  • A total of 427 individuals were analysed for microsatellite and 85 individuals for mitochondrial (mtDNA) sequence data from 12 populations across Europe. (uni-frankfurt.de)
  • Microsatellite variation was higher within than among populations, whereas mtDNA data yielded an inverse pattern. (uni-frankfurt.de)
  • TB Strategy in the African Region 2016-2020. (who.int)
  • Subjects with R/R genotype had significantly higher FVIIc levels than Q353 heterozygote and homozygote subjects (96.36 versus 59.52). (who.int)
  • Observed heterozygote deficiencies might be a consequence of simultaneous hatching of individuals produced during different times of the year or of the coexistence of ecologically and genetically differentiated subpopulations. (uni-frankfurt.de)
  • The disorder results from the deficiency of a specific lysosomal hydrolase, glucocerebrosidase (also termed acid beta-glucosidase, glucosylceramidase). (medscape.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)
  • Here, we identify a molecular mechanism for detrimental effects of low maternal n-3 PUFA intake on hippocampal development in mice. (nature.com)
  • ABSTRACT Factor VII gene polymorphisms may contribute to elevations in factor VII coagulant (FVIIc) levels that have been associated with cardiovascular risk. (who.int)
  • The ASH Giuseppe Bigi Memorial Award was established in 2015 to recognize an Italian trainee (undergraduate student, medical student, graduate student, resident physician, or post-doctoral fellow) based at an Italian institution who has the highest-scoring abstract submitted in the field of hematopoiesis and stem cells. (hematology.org)
  • Mlh1/Atm double null tumors were polyclonal, whereas the tumors in other genotypes were mono- or oligoclonal, demonstrating the high predisposition of thymocytes with this genotype to become malignant. (wustl.edu)
  • Chromosomal aberrations in the tumors were localized mainly in chromosomes 12 and 15. (wustl.edu)
  • Factor XII does play an important role in clot formation during in vitro measurements of the partial thromboplastin time, which causes these measurements to be markedly prolonged in patients with factor XII deficiency, usually well beyond even what is seen in hemophilia A, hemophilia B, or factor XI deficiency. (wikipedia.org)
  • As in persons without hemophilia, routine care should be provided to patients with FXIII deficiency, including examination of stool for blood, rectal examination, colonoscopy , prostate-specific antigen determinations, mammography, and dental care. (medscape.com)
  • Also, gene therapy can be one and done treatment for severe hemophilia patients that do not respond to the exogenous factor replacement therapy. (medicalbiochemist.com)
  • Adeno associated virus-mediated gene transfer of hVIII-SQ variant for Hemophilia A Rangarajan et al, 2017 have shown a successful adeno-associate virus-mediated gene transfer and expression of factor VIII SQ variant in nine subjects with severe hemophilia A. In most of these patients, the decreased bleeding frequency with sustained factor VIII activity level was observed. (medicalbiochemist.com)
  • Challenges with factor VIII vector design: The successful gene transfer and expression of factor VIII for hemophilia A have been challenging because of the distinct molecular and biochemical properties of human factor VIII. (medicalbiochemist.com)
  • The incidence is alarmingly on the rise, and environmental factors are increasingly suspected to play a role. (blogspot.com)
  • By the end of 2015, the Region as a whole met the key Millennium Development Goal (MDG) target of halting and beginning to reverse TB incidence. (who.int)
  • Despite susceptibility artifacts, the LIC determined from bSSFP data showed high accuracy. (bvsalud.org)
  • We have previously reported that a maternal dietary n-3 PUFA deficiency alters the microglial phenotype and reduces their motility in the developing hippocampus 17 . (nature.com)
  • Cells that have high energy demands, such as those in the inner ear that are critical for hearing, are particularly sensitive to the effects of mitochondrial DNA damage. (medlineplus.gov)
  • Patients with temporomandibular disorders (TMD) exhibit higher levels of anxiety ( 17 ), while TMD symptoms worsen whenever a person is under stress ( 18 , 19 ). (spandidos-publications.com)
  • Platelet disorders lead to defects in primary hemostasis and produce signs and symptoms different from coagulation factor deficiencies (disorders of secondary hemostasis). (medscape.com)
  • Factor XII can also be used to start coagulation cascades in laboratory diagnostic coagulation assays called activated partial thromboplastin times (aPTT). (wikipedia.org)
  • The remaining 4% mostly belongs to SZ, MZ and, in a smaller amount, to other rare deficiency or null phenotypes. (ersjournals.com)
  • Factor XII itself is activated to factor XIIa by negatively charged surfaces, such as glass. (wikipedia.org)
  • For instance, GIII, GV and GX sPLA 2 s efficiently hydrolyse phosphatidylcholine, while GIIA sPLA 2 has higher activity against negatively charged phospholipid substrates, and in particular, phosphatidylserine, phosphatidylglycerol and phosphatidylethanolamine. (ijbs.com)
  • Relative high levels of nuclear DNA diversity were found across Europe. (uni-frankfurt.de)
  • Microglia are efficient phagocytes of synaptic material and apoptotic cells, which are key processes in the developing brain 12 . (nature.com)
  • High-dimensional approaches have revealed heterogeneity amongst dendritic cells (DCs), including a population of transitional DCs (tDCs) in mice and humans. (stanford.edu)
  • The hemostatic system consists of platelets, coagulation factors, and the endothelial cells lining the blood vessels. (medscape.com)
  • Tissue factor is an intrinsic membrane glycoprotein that is normally not exposed on the surface of intact blood vessels. (medscape.com)
  • Platelets play a primary role in this process, interacting with subendothelium-bound von Willebrand factor (vWf) via the membrane glycoprotein (GP) Ib complex. (medscape.com)
  • However, CD25 associates with CD122 (IL-2 receptor beta chain) and CD132 (common gamma chain) to form the high affinity IL-2 receptor. (thermofisher.com)
  • IL2RA, IL2R beta chain (IL2RB), and the IL2R gamma chain (IL2RG), constitute the high-affinity IL2 receptor. (thermofisher.com)
  • The formation of aneurysms is an incompletely understood gradual process [ 1 ] involving genetics, epidemiology and pathobiology, in conjugation with the study of biophysics provides a more complete picture on how these factors interact [ 2 ]. (intechopen.com)
  • Our studies indicate that Alzheimer's disease can arise from a combination of genetics, poor diet, and environmental stress, under conditions where no single one of these factors would induce the disease. (uml.edu)
  • Human molecular genetics , 14 (19), 2929-2943. (wustl.edu)
  • 1 Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago College of Medicine, Chicago, Illinois, USA. (jci.org)
  • Address correspondence to: Lester F. Lau, Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago College of Medicine, 900 South Ashland Avenue, Chicago, Illinois 60607, USA. (jci.org)
  • 1 Severe hypoxia causes a high mutation rate, resulting in point mutations, which may be explained by reduced DNA mismatch repair activity resulting from decreased MLH1 and PMS2 concentrations, which are caused by hypoxia. (bmj.com)
  • Mutations in this gene are associated with interleukin 2 receptor alpha deficiency. (thermofisher.com)
  • Platelet polyphosphate-driven factor XII activation provides the link from primary hemostasis (formation of a platelet plug) to secondary hemostasis (fibrin meshwork formation). (wikipedia.org)
  • In these study subjects, the stabilization of hemostasis with a profound reduction in factor VIII use was observed. (medicalbiochemist.com)
  • Addition of polyphosphates restored defective plasma clotting of Hermansky-Pudlak syndrome patients, indicating that the inorganic polymer is the endogenous factor XII activator in vivo. (wikipedia.org)
  • Endogenous synthesis and dietary intake provide sufficient coenzyme Q 10 to prevent deficiency in healthy people, although coenzyme Q 10 concentrations in tissues decline with age. (oregonstate.edu)
  • Factor VIIa bound to tissue factor in the presence of calcium and phospholipids facilitates the conversion of factor IX to factor IXa and factor X to factor Xa. (medscape.com)
  • The epidermal growth factor domain has a calcium ion- binding site that to some degree mediates interaction with the tissue factor exposed at the site of vessel injury. (medscape.com)
  • Calcium deficiency also may increase lead absorption, based on studies in children. (cdc.gov)
  • The dense granules contain proaggregatory factors such as ADP, calcium, and 5-hydroxytryptamine (serotonin). (medscape.com)
  • All of this, including the mechanism of inheritance, also holds true for the other contact factors, prekallikrein (Fletcher factor) and high molecular weight kininogen. (wikipedia.org)
  • Furthermore, the underlying molecular mechanism of carcinogenesis is poorly understood, and prognostic prediction of ACC has low accuracy. (cancerindex.org)
  • Since 2007, Ms Asghari has worked at the Research Institute of Endocrine Sciences and Metabolism, investigating noncommunicable diseases and their risk factors, such as childhood obesity and its health consequences, including diabetes and metabolic syndrome. (who.int)
  • Its heavy chain contains two fibronectin-type domains (type I and II), two epidermal growth factor-like domains, a kringle domain, and a proline-rich region, and its light chain contains the protease domain. (wikipedia.org)
  • It and the gene for the epidermal growth factor receptor ( EGFR ) are involved in cell signaling. (medscape.com)
  • Ovarian cancer cell heparan sulfate 6-O-sulfotransferases regulate an angiogenic program induced by heparin-binding epidermal growth factor (EGF)-like growth factor/EGF receptor signaling. (nih.gov)
  • Polyphosphate exerts differential effects on plasma clotting in test tubes ex vivo, depending on polymer size and it was shown in vitro that platelet-size soluble polyphosphates induce little activaton of factor XII in solution but that they are accelerators of thrombin-induced activation of factor XI. (wikipedia.org)
  • During hypoxia, an intricate balance exists between factors that induce or counteract apoptosis, or even stimulate proliferation. (bmj.com)
  • 10976 in exon 8 in the catalytic region of ing factors that may increase cardiovascu- the FVII gene and an insertion of a decanu- lar disease. (who.int)
  • In humans, factor XII is encoded by the F12 gene. (wikipedia.org)
  • Gastrointestinal absorption of soluble lead salts in adult humans can be high during fasting (40-50%), but is about 3-15% when ingested with food. (cdc.gov)
  • At higher levels of exposure in humans, lead produces cardiac lesions and electrocardiographic abnormalities. (cdc.gov)
  • Upon contact with tissue ferences in FVII activity levels and in geno- factor exposed by vascular injury, FVII is type frequencies depend on the ethnic cleaved to its two-chain active form, which groups [ 15 ]. (who.int)
  • The current study estimates the total number of ZZ, SZ and MZ individuals in each European country, and goes beyond earlier publications by others 7 - 10 , in which only the allele frequencies for PI*M, PI*S and PI*Z were reported for individual cohorts in individual cities or geographical regions. (ersjournals.com)
  • The present study utilises available data from epidemiological studies performed by others to determine the frequencies of deficiency allele combinations for PI*S and PI*Z, in the healthy control cohorts of individual case studies from European countries. (ersjournals.com)
  • The gene for factor XII is located on the tip of the long arm of the fifth chromosome (5q33-qter). (wikidoc.org)
  • Another locus was found in the chromosome 14q13-21 region (RLS-2) in a 30-member, three-generation northern Italian family affected by RLS and PLMS. (medscape.com)
  • We studied FVII gene poly- then activates factors IX and X leading to morphisms in healthy Tunisians with the the generation of thrombin [ 2 ]. (who.int)
  • Our results show that maternal dietary n-3 PUFA deficiency increases microglia-mediated phagocytosis of synaptic elements in the rodent developing hippocampus, partly through the activation of 12/15-lipoxygenase (LOX)/12-HETE signaling, altering neuronal morphology and affecting cognitive performance of the offspring. (nature.com)
  • Although this division is useful for understanding in vitro laboratory coagulation tests, no such division occurs in vivo because the tissue factor VIIa complex is a potent activator of factor IX and factor X. (medscape.com)
  • A high-fat and high-cholesterol diet induces overt and latent oxidative damage in hippocampus of mice lacking apolipoprotein E. Open Neuro 12 , 12-18. (uml.edu)
  • In an effort to identify elusive regulators of nephron segmentation, our lab conducted a high-throughput drug screen using a bioactive chemical library and developing zebrafish, which are a conserved vertebrate model and particularly conducive to large-scale screening approaches. (mdpi.com)
  • We therefore studied the association of two polymorphisms - R353Q polymorphism at codon 353 involving the catalytic region and the 10 base pair (bp) insertion polymorphism involving the promoter region - with FVIIc levels in 176 healthy Tunisians. (who.int)
  • Supporters of the polygenic nature of breast cancer suggest that the contributions from polymorphisms are very important because of their high frequency in the population. (hindawi.com)
  • Contact to polyphosphates activates factor XII and initiates fibrin formation by the intrinsic pathway of coagulation with critical importance for thrombus formation and the factor XII-activated pro inflammatory kallikrein kinin-system. (wikipedia.org)
  • Factor XII is part of the coagulation cascade and activates factor XI and prekallikrein in vitro. (wikidoc.org)
  • It was observed that CDK8-CycC positively regulates transcription activated by Mad (Mothers against dpp) , the primary transcription factor downstream of the Dpp/TGFβ signaling pathway . (sdbonline.org)
  • CDK8 can directly interact with Mad in vitro through the linker region between the DNA-binding MH1 (Mad homology 1) domain and the carboxy terminal MH2 (Mad homology 2) transactivation domain. (sdbonline.org)
  • These aggregates accumulate on the platelet surface and activate factor XII independently of the chain length go the individual polymer. (wikipedia.org)
  • Dr. Curtis's laboratory leverages computational modeling, high-throughput molecular profiling and experimentation to develop new ways to prevent, diagnose and treat cancer. (stanford.edu)
  • Her research has redefined the molecular map of breast cancer and led to new paradigms in understanding the origins of human cancers, as well as how they evolve and metastasize. (stanford.edu)
  • H- ras was one of the oncogenes that first caught the attention of molecular biologists interested in cell signaling, cell growth control, and cancer. (medscape.com)
  • Our data suggest that impaired genomic instability is an important contributing factor to cancer predisposition in A-T, whereas oxidative stress is more important in the radiation sensitivity and growth retardation facets of this disease. (wustl.edu)
  • For example, recently it was found that a transcription factor is responsible for mammalian cold sensation. (freeonlineresearchpapers.com)
  • Transgenic mice that were created that had a mutation in the gene which codes for the transcription factor (NGFIB). (freeonlineresearchpapers.com)
  • They were unable to respond to cold stimuli which provided strong evidence that a transcription factor is indeed required in the cold response pathway. (freeonlineresearchpapers.com)
  • The contribution of lead, as compared with other factors, is relatively small, and whether the observed associations represent causality is controversial. (cdc.gov)
  • The Dr A.T. Shousha Foundation Prize is awarded to a person having made the most significant contribution to any health problem in the geographical area in which Dr A.T. Shousha served WHO, namely the Eastern Mediterranean Region. (who.int)
  • Factor VIII SQ variant gene construct used for gene therapy consisting of ApoE hepatic control region and human alpha-1 anti-trypsin promotor, leader sequence followed by B-domain deleted (BDD) factor VIII. (medicalbiochemist.com)
  • The choice of treatment for patients with factor VII deficiency depends on the site and severity of bleeding and the baseline factor VII activity. (medscape.com)
  • The introduction of factor VIII concentrates of HCV among HIV patients in Baghdad in 1970 has improved the treatment of pa- and to determine the most prevalent geno- tients with coagulopathy. (who.int)
  • The factors that contribute to neurologic involvement in patients with types 2 and 3 disease are still unknown but may be related to the accumulation of a cytotoxic glycolipid, glucosylsphingosine, in the brain due to the severe deficiency of glucocerebrosidase activity or to neuroinflammation. (medscape.com)
  • There is concern about an ongoing increase in younger patients and in women, in particular, without known risk factors, as well as in the oropharynx due to human papillomavirus (HPV) infection. (medscape.com)
  • This activity also highlights the critical role of the interprofessional team in providing care for affected patients and raising awareness about nutritional deficiencies. (statpearls.com)
  • Autoimmune antiidiotype-like antibody (Ab2) directed against anti-HIV-1gp120 (Ab1) was found in high titer in the sera of 10 consecutive homosexual and 11 narcotic addict HIV-1-related immunologic thrombocytopenia (HIV-1-ITP) patients, was barely detectable in 10 nonthrombocytopenic HIV-1 sero-positive individuals, and was not detectable in 5 normal subjects by use of a solid-phase RIA. (jci.org)
  • On the basis of dietary balance studies, gastrointestinal absorption of lead in children appears to be higher and may account for 40-50% of the ingested dose. (cdc.gov)
  • RLS can be either primary (idiopathic) or arise from secondary causes that lead to iron deficiency (sporadic or symptomatic forms). (medscape.com)
  • Secondary efficacy was the frequency of factor VIII use and the number of bleeding episodes. (medicalbiochemist.com)
  • However, this ambitious, but laudable, goal faces a daunting array of challenges and requires integrated strategies tailored to the region, which should be based on a mechanistic understanding of the human, parasite, and vector factors sustaining continued malaria transmission along international borders. (intechopen.com)
  • Under experimental stress, there is increased masseter activity, which returns to baseline levels upon relaxation ( 12 ). (spandidos-publications.com)