Conformational high molecular factor xii deficiency. Medical search. Frequent questions

12(19)2023 Sep 27. (bvsalud.org)

The zinc uptake regulator (Zur) gene is a bacterial gene that codes for a transcription factor protein involved in zinc homeostasis. (wikipedia.org)
The protein is a member of the ferric uptake regulator family and binds zinc with high affinity. (wikipedia.org)
Under conditions of zinc deficiency, the protein undergoes a conformational change that prevents DNA binding, thereby lifting the repression and causing zinc uptake genes such as ZinT and the ZnuABC zinc transporter to be expressed. (wikipedia.org)
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)
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)
Inhibits vitamin K-dependent gamma carboxylation of procoagulant proteins factor II, VII, IX, X, as well as the anticoagulant factor, protein C. Tailor dose to maintain an INR in the range of 2-2.5. (medscape.com)
Molecular genetic methods were implemented into the screening examinations for thrombophilic disorders in the 1990's along with the first discoveries of coagulation inhibitors (AT, protein C and protein S). The discovery of the molecular cause of activated protein C (APC) resistance by Bertina in 1994 greatly expanded their utilization. (intechopen.com)
Conformational diseases are often caused by mutations, altering protein folding and stability in vivo . (mdpi.com)
This is due to the delay of 60S subunit assembly by deleting non-essential ribosomal protein genes or 60S subunit processing factors, thus globally decreased the translation elongation speed and improved the co-translational folding, without perturbing the relative transcription level and translation initiation. (biomedcentral.com)
Zn(2+) addition to the cell culture medium induces an increase in the proliferative activity of the BDNF(1-12) peptide and of the whole protein on the SHSY5Y neuroblastoma cell line. (cnr.it)
Dr. Cochran's translational interests span protein-based drug discovery and development for applications in oncology and regenerative medicine, and the development of new technologies for high-throughput protein analysis and engineering. (stanford.edu)
at the same time developing protein and peptide-based tools that will allow us to manipulate cellular processes on a molecular level. (stanford.edu)
The proteostasis network (PN) is an assembly of distinct dynamic molecular pathways that control the functionality of the proteome (proteome homeodynamics) during protein synthesis, folding, trafficking, and degradation. (hindawi.com)
Large-scale protein conformational motions on nanosecond-microsecond time scales are important for many biological processes, but remain largely unexplored because of methodological limitations. (lu.se)
NMR relaxation methods can access these time scales if protein tumbling is prevented, but the isotropy required for high-resolution solution NMR is then lost. (lu.se)
This possibility opens up a new window for characterizing the motions of individual internal water molecules as well as the large-scale protein conformational fluctuations that govern the exchange rates of structural water molecules. (lu.se)
This is essential for molecular recognition, binding, gating, signal the case in protein (micro-)crystals and precipitates, which are transduction, transport, and chemical transformation in all living increasingly being studied with solid-state NMR techniques.5 systems. (lu.se)

The pathogenesis of CTDs is heterogeneous and involves multiple genes and environmental factors. (biomedcentral.com)

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)
The effects of ginseng oligosaccharides (GSOs) on neuronal oxidative injury induced by glutamate (GLU) and the molecular mechanisms involved were investigated. (sdbonline.org)

In wild-type cells, this is associated with caspase 12 cleavage that is abolished in bax − / − bak − / − cells. (rupress.org)
However, ER-targeted, but not mitochondria-targeted, Bak leads to progressive depletion of ER Ca 2+ and induces caspase 12 cleavage. (rupress.org)
The Molecular Chaperone CCT Sequesters Gelsolin and Protects it from Cleavage by Caspase-3. (gu.se)
Upon cleavage of the substrate by the active enzyme (factor Xa), a colored compound is released. (medscape.com)
Antithrombin's anticoagulant effect results from its inactivation of certain coagulation factors, for the most part IIa and Xa, by enzymatic cleavage (serine protease). (medscape.com)

One critical step involves recruitment of the pre-assembled U4/U6.U5 tri-snRNP to Complex A, which engages 5′ and 3′ splice sites, to form the pre-catalytic Complex B. Complex B then undergoes profound structural and conformational changes that lead to catalytic activation and conversion to Complex B act , which initiates catalysis and nucleates the formation of Complex C, which completes the splicing reaction [ 3 , 4 ]. (biomedcentral.com)

Other vitamin K-dependent factors include prothrombin, factors IX and X, and proteins C and S. (medscape.com)
These proteins are beta-sheet rich or multi-domain and aggregation prone, which may require higher co-translational folding efficiency. (biomedcentral.com)

Bax and Bak play a redundant but essential role in apoptosis initiated by the mitochondrial release of apoptogenic factors. (rupress.org)

J Immunol (2015) 194 (12): 5961-5967. (aai.org)

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)
Furthermore, the anti-Xa assay is the most accurate methodology for monitoring UH, especially in the presence of a circulating inhibitor or when the baseline PTT is already prolonged (as in factor XII deficiency). (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)
Bruton's tyrosine kinase deficiency in macrophages inhibits nitric oxide generation leading to enhancement of IL-12 induction. (lookformedical.com)
A Fatty Diet Induces a Jejunal Ketogenesis Which Inhibits Local SGLT1-Based Glucose Transport via an Acetylation Mechanism-Results from a Randomized Cross-Over Study between Iso-Caloric High-Fat versus High-Carbohydrate Diets in Healthy Volunteers. (gu.se)
Therefore, LMWH more specifically inhibits coagulation by inactivating factor Xa more than UH. (medscape.com)

Arguably, the most important "other" factor is adaptive and innate immunity of the exposed individual. (hindawi.com)

A recent study showed that mitochondria clustering around the perinuclear region can act as signaling for increased oxidative stress affecting hypoxia inducible promoters [ 12 ]. (hindawi.com)

In patients with congenital ATIII deficiency, anticoagulation reduces the incidence of thrombosis. (medscape.com)
This interaction leads to the conformational change of antithrombin, increasing the time of its anticoagulation activity several-fold. (medscape.com)

As platelet-activating factor and HPC share structural semblances and both induce killing of intracellular Leishmania , we surmised that platelet-activating factor (PAF) receptor had a significant role in the antileishmanial function of miltefosine. (aai.org)
Agents that initiate ER stress responses can induce conformational changes and oligomerization of Bax on the ER as well as on mitochondria. (rupress.org)

Zn(2+) complexes with the peptide fragment BDNF(1-12) encompassing the sequence 1-12 of the N-terminal domain of BDNF were studied by means of potentiometry, electrospray mass spectrometry, NMR, and density functional theory (DFT) approaches. (cnr.it)
The coordination features of the acetylated form [AcBDNF(1-12)] and of a single mutated peptide [BDNF(1-12)D3N] were also characterized, highlighting the role of the imidazole side chain as the first anchoring site and ruling out the direct involvement of the aspartate residue in the metal binding. (cnr.it)

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)
The TBX1 gene, a member of a phylogenetically conserved T-box gene family of DNA-binding transcription factors, is mapped to the 22q11.2, and is hypothesised to be responsible for the cardiac phenotype of 22q11.2 deletion syndrome. (biomedcentral.com)

Members of the institute have published in a wide range of peer-reviewed journals, including Nature, Molecular Cell, Angewandte Chemie, JACS, Science Advances, Proceedings of the National Academy of Sciences USA, Nucleic Acids Research, Chemical Science and many others. (le.ac.uk)

[ 1 ] Thus, tracing research of the COX pathway is essential to an understanding of COX deficiency, and examining the variable effects of COX inhibition are advantageous. (medscape.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 specific assay for factor VII, using known factor VII-deficient plasma, is required to confirm the diagnosis. (medscape.com)
Molecular diagnosis may be useful for monitoring natural spontaneous tolerance development in CMPA. (mdpi.com)
Let's look at the history of molecular diagnosis of thrombophilia. (intechopen.com)
Since the very beginning of the diagnosis of thrombophilic disorders, which arose from the study of families with a high frequency of thrombophilic complications, it was apparent that in a number of cases, the disorder was due to dominantly inherited conditions. (intechopen.com)

Minireview: Regulation of Prohormone Convertases in Hypothalamic Neurons: Implications for ProThyrotropin-Releasing Hormone and Proopiomelanocortin Eduardo A. Nillni Division of Endocrinology, Department of Medicine, Brown Medical School/Rhode Island Hospital, and Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, Rhode Island 02903 Recent evidence demonstrated that posttranslational processing of neuropeptides is critical in the pathogenesis of obesity. (moam.info)
However with the rapid advances in biochemistry/molecular biology the colloid aspect of the fi eld was largely forgotten and colloid science was for a long period primarily a discipline for technical applications. (lu.se)
Basic concepts of colloid science like the surface force issue has wide applications in biochemistry and molecular biology. (lu.se)

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)
Furthermore, the blockage of TEAD transcriptional activity either pharmacologically or through the ectopic expression of a disruptor of the YAP/TAZ interaction with TEAD transcription factors, overcomes the resistance of tumor cells to the induction of apoptosis by TRAIL. (bvsalud.org)
Venous thrombosis is a multifactorial disease frequently related to the interaction of genetic and environmental risk factors. (intechopen.com)
Alternatively the second C-terminal function could indicate a requirement for a Redβ-host factor interaction. (nature.com)
The TBX1 G310S variant seems to affect the interaction of TBX1 with other factors. (biomedcentral.com)
Computer molecular dynamics simulations showed the de novo missense mutation is likely to affect TBX1-DNA interaction. (biomedcentral.com)
Not only the molecular differences leading to the different clinical presentations need to be better understood, but also the pathogenic mechanisms of CLE in general: the precise role of involved cell types, the impact of different cytokines described in the disease, and their interaction and regulation in a complex network need further exploration. (frontiersin.org)

Long-term therapy for congenital deficiency is generally not indicated, as an asymptomatic period may last decades. (medscape.com)
The anti-factor Xa assay is designed to measure plasma heparin (unfractionated heparin [UH] and low molecular weight heparin [LMWH]) levels and to monitor anticoagulant therapy. (medscape.com)
In the long term, this could help to select a targeted therapy taking the individual molecular profile of a patient into account. (frontiersin.org)

Inherent in this technically accurate paradox is that while the former supports the well-established link between microbial pathogens and infectious diseases, the latter infers that disease susceptibility can be modified by extramicrobial factors [ 1 - 3 ]. (hindawi.com)
PRPF8 deficiency is linked to human diseases like retinitis pigmentosa or myeloid neoplasia, but its genome-wide effects on constitutive and alternative splicing remain unclear. (biomedcentral.com)
Our findings exemplify the regulatory potential of changes in the core spliceosome machinery, which may be relevant to slow-onset human genetic diseases linked to PRPF8 deficiency. (biomedcentral.com)

Molecular characterization and gene expression of lhcb5 gene encoding CP26 in the light-harvesting complex II of Chlamydomonas reinhardtii. (bio.net)
Systems that previously were considered too complex for a molecular characterization now successively become available to fundamental studies. (lu.se)

The latter conclusion infers that susceptibility to infectious disease can be modified by host-related factors. (hindawi.com)
1). However, other medical conditions such as co-infection with parasites and Vitamin A deficiency increase susceptibility to cholera infection. (kenyon.edu)

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)
Our research is driven by the philosophy that in order to control physiological processes it is necessary to understand the molecular mechanisms that drive these processes. (stanford.edu)
DISCUSSION: The identification of these specific environmental factors associated with ALS highlight the need for future prospective and laboratory studies to assess causality, biological mechanisms, and find prevention or treatment opportunities. (cdc.gov)

Under diabetic conditions, a subset of ß cells fail and lose expression of key transcription factors (TFs) required for insulin secretion. (bvsalud.org)
Transcription factor bHLH121 regulates root cortical aerenchyma formation in maize. (harvard.edu)

Advances in the molecular understanding of biological zinc transport" (PDF). (wikipedia.org)

The most commonly used methodology is the chromogenic assay, which uses a chromophore-linked substrate of factor Xa. (medscape.com)
Factor Xa assay is indicated to monitor anticoagulant effects. (medscape.com)

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)
AT regulates hemostasis by inhibiting thrombin and factor Xa, key proteases for blood coagulation. (medscape.com)

However, B cells are increasingly considered to have additional functions, supported by studies finding them to occur in highest numbers in chronic discoid lupus erythematosus (CDLE), a subtype in which autoantibodies are often absent. (frontiersin.org)

When the vascular lumen is damaged, tissue factor is exposed and then binds to the small amounts of circulating factors VIIa and VII. (medscape.com)
The heparin-ATIII complex binds to and inactivates activated factor X (Xa) and factor II (thrombin). (medscape.com)

Regardless of the etiology, a deficiency of cyclooxygenase (COX), a key regulatory enzyme in the synthetic pathway of eicosanoid production, results in beneficial and detrimental physiologic conditions relative to imbalances of the eicosanoids. (medscape.com)

Therapeutic options for major bleeds include recombinant activated factor VIIa (rFVIIa), plasma-derived factor VII, fresh frozen plasma, and prothrombin complex concentrates. (medscape.com)

Older patients who received unpurified plasma‐derived clotting factor concentrates may have signs and symptoms of infectious disease (eg, hepatitis, HIV infection). (medscape.com)
Antithrombin III (ATIII) deficiency may be quickly corrected with infusions of antithrombin III concentrates. (medscape.com)

On the other hand, induction of IL-12 is higher in X-linked immunodeficient than in wild-type macrophages. (lookformedical.com)
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)

Intensive Training Affects Mood with no Effect on Brain-Derived Neurotrophic Factor. (exeter.ac.uk)

The dynamics of RACK1 levels in isolated adult SC of mice, i.e., progressively high during differentiation and low compared to proliferating conditions, and RACK1 silencing indicated that RACK1 promotes both the formation of myotubes and the accretion of nascent myotubes. (sdbonline.org)
In response to Streptococcus pyogenes infection, the production of pro-inflammatory cytokines is mostly regulated by TLR-myeloid differentiation factor 88 (MyD88) signaling ( 2 , 3 ). (frontiersin.org)

These findings provide a mechanistic insight into neurodevelopmental defects caused by maternal n-3 PUFAs dietary deficiency. (nature.com)
Prevalence and risk of individual thrombophilic markers with a time line representing their discovery[ 1 ] Despite the expansion of these methods, the following years brought forth discoveries of defects on a molecular basis, which posed decreasing risks of thrombosis, as can be seen in Fig 1 . (intechopen.com)

Hemophilia B, or Christmas disease, is an inherited, recessive disorder that involves deficiency of functional coagulation factor IX (FIX) in plasma. (medscape.com)
When compared to functional assays, molecular assays provide clear results without different cut-off values. (intechopen.com)

The hemostatic pathway: role of factor IX. (medscape.com)

Arguably the two most prominent factors are genetic variability and immunologic status of the exposed individual. (hindawi.com)
Furthermore, accumulating data indicate that alterations of immune responsiveness are partly dependent on genetic factors [ 4 ]. (hindawi.com)
Alpha 1 antitrypsin (A1AT) deficiency (A1ATD) is a common autosomal co-dominant genetic disorder caused by mutations on the SERPINA1 gene (chromosome 14) that may be clinically characterized by lung (emphysema, chronic obstructive pulmonary disease-COPD) and/or liver (cirrhosis) disease. (biomedcentral.com)
Some of the recently discovered genetic risk factors, such as factor V Leiden and prothrombin G20210A mutations, are quite common in the population. (intechopen.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)
however, this depends on the proportion of higher molecular weight components. (medscape.com)

Recognition of Toll-like receptors (TLRs), the most important pathogen recognition receptors expressed on innate immune cells, with pathogen-associated molecular patterns can rapidly initiate the coordinated activation of transcriptional factors and result in the effective expression of pro-inflammatory mediators ( 1 ). (frontiersin.org)

However, those that survive travel to the small intestine where they begin to produce cholera toxin (CT), which is the main virulence factor of V. cholerae . (kenyon.edu)
2003. Virulence factors of Porphyromonas gingivalis are modified by polyphenol oxidase and asparaginase. (miamioh.edu)

Some of these domains contain an inserted von Willebrand factor type-A domain. (embl.de)

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)
In STSS, the excessive production of various cytokines is thought to be responsible for severe systemic effects, and serum levels of TNF-α and IL-6 show the highest correlation with disease severity ( 5 , 6 ). (frontiersin.org)

LMWH or UH forms an inhibitory complex with antithrombin and inactivates factor Xa. (medscape.com)

Microglia are efficient phagocytes of synaptic material and apoptotic cells, which are key processes in the developing brain 12 . (nature.com)
A high-performing capture method is a critical bedrock asset for developing industrial purification processes. (bioprocessintl.com)

Upon Fe3+ uptake, transferrins undergo a large scale conformational transition: the apo structure with an opening of the interdomain cleft is transformed into the closed holo structure, implying initial Fe3+ binding in the open form. (lookformedical.com)

it is involved in memory formation and higher cognitive functions. (cnr.it)

If the patient misses a dose and it is less than 12 hours after it was due, the patient should be advised to take the dose as soon as possible and then take the next dose at the scheduled time. (who.int)

Factor VII is synthesized in the liver and secreted as a single-chain glycoprotein of 48 kd. (medscape.com)
Alpha 1 antitrypsin (A1AT) deficiency (A1ATD) is potentially associated with a high degree of liver and/or lung disease. (biomedcentral.com)

This facilitates conversion of factor VII to factor VIIa. (medscape.com)
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)
Factor VII is then converted to factor VIIa. (medscape.com)

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)

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