• Noonan syndrome and related disorders are caused by mutations in genes encoding for proteins of the RAS-ERK1/2 signaling pathway, which affect development by enhanced ERK1/2 activity. (sdbonline.org)
  • This study found that CSW loss-of-function mutations extended life span by interacting with components of the insulin signaling pathway and impairing AKT activity in adult flies. (sdbonline.org)
  • It is concluded that CSW normally regulates life span and that mutations in SHP2 are expected to have critical effects throughout life by insulin-dependent mechanisms in addition to the well-known RAS-ERK1/2-dependent developmental alterations. (sdbonline.org)
  • We generated single mutants and found that ths or pyr loss-of-function mutations are semi-lethal and mutants exhibit much weaker phenotypes as compared with loss of both ligands or htl . (biologists.com)
  • Consistent with this function, mutations in pyr affect the normal segmental number of cardioblasts. (biologists.com)
  • Familial AD (FAD) cases are caused by autosomal dominant mutations in the genes for amyloid precursor protein (APP) and the presenilins (PS1 and PS2) ( Sisodia and St George-Hyslop, 2002 ). (jneurosci.org)
  • SJS types IA and IB derive from mutations of the same gene, the HSPG2 gene, which codes for perlecan, a heparin sulfate proteoglycan. (medscape.com)
  • In addition, patients with APP gene duplications or individuals with Down's syndrome (trisomy 21), who have increased dosage of the APP gene (located on chromosome 21), develop early-onset AD and overproduce Aβ 42 ( Hardy, 2006 ). (jneurosci.org)
  • The dystrophin gene is located on the short arm of chromosome X near the p21 locus and codes for the large protein Dp427, which contains 3685 amino acids. (medscape.com)
  • A common deleted region (CDR) in both myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN) affects the long arm of chromosome 20 and has been predicted to harbor a tumor suppressor gene. (elifesciences.org)
  • Many individuals affected by these disorders possess a shortened form of chromosome 20 that lacks a number of genes. (elifesciences.org)
  • This deletion is only ever seen in one of their two copies of the chromosome-suggesting that at least some of these genes are essential for survival-but the identity of the gene(s) that are associated with the increased risk of myeloid malignancies is unknown. (elifesciences.org)
  • have uncovered a key tumor suppressor among those genes frequently lost on chromosome 20. (elifesciences.org)
  • By contrast, the 10 downregulated genes were primarily associated with epithelial membrane proteins ( 11 ). (spandidos-publications.com)
  • The gene loci coding for each of the DAG complex proteins is located outside the X chromosomes. (medscape.com)
  • We conclude that ubiquitin might serve as a cis-acting molecular chaperone that assists in the folding and synthesis of the fused eL40 and eS31 ribosomal proteins. (123dok.net)
  • Ubiquitin functions as a reversible post-translational modifier of proteins to regulate many different cellular processes such as DNA repair, chromatin dynamics, cell cycle regulation, membrane and protein trafficking, endocytosis, autophagy, but most notably proteasome-dependent protein degradation [2-4]. (123dok.net)
  • In most eukaryotes studied, ubiquitin is encoded by two classes of genes: (i) The first comprises genes coding for a single copy of ubiquitin fused to ribosomal proteins (r-proteins), most commonly eL40 and eS31. (123dok.net)
  • Noonan syndrome (NS) and NS with multiple lentigines (NSML) cognitive dysfunction are linked to SH2 domain-containing protein tyrosine phosphatase-2 (SHP2) gain-of-function (GoF) and loss-of-function (LoF), respectively. (sdbonline.org)
  • Cystatin C or cystatin 3 (formerly gamma trace, post-gamma-globulin, or neuroendocrine basic polypeptide), a protein encoded by the CST3 gene, is mainly used as a biomarker of kidney function. (wikipedia.org)
  • Of the 31 genes, the 21 upregulated genes were primarily associated with cell paracrine and intracellular signaling, transcription regulation and cell adhesion and migration, and their transcriptional products included transforming growth factor-β2 (TGF-β2), insulin-like growth factor-binding protein 2 and transcriptional factor AP-2α/γ ( 11 ). (spandidos-publications.com)
  • The molecular chaperone glucose-regulated protein 78 ( GRP78 ) or binding immunoglobulin protein (BiP), in addition to Ca 2+ binding and protein processing functions, possesses one more key role: master initiator of early UPR signaling. (molvis.org)
  • This mutant shows a severe slow-growth phenotype, which could be fully suppressed by increased dosage of the ubi1∆ub-HA allele, or partially by the replacement of ubiquitin by the ubiquitin-like Smt3 protein. (123dok.net)
  • At least three papers last summer dealt with the advantage of new technologies used to discover the extent to which these polymorphic rearrangements are duplications of genes found elsewhere in the genome. (the-scientist.com)
  • Clinically relevant gain-of-function csw allele reduced life span, when expressed in fat body, but not in other tissues. (sdbonline.org)
  • However, overexpression of a wild-type allele did not affect life span, showing a specific effect of the gain-of-function allele independently of a gene dosage effect. (sdbonline.org)
  • To block apoptosis, we conditionally deleted one allele of p53 in Ncadk.i. mice and observed a temporal rescue of alveolar morphology and function. (biomedcentral.com)
  • This review summarizes BACE properties, describes BACE translation dysregulation in AD, and discusses BACE physiological functions in sodium current, synaptic transmission, myelination, and schizophrenia. (jneurosci.org)
  • When in vitro experimental models are exposed to ATZ, they are faced with increased levels of reactive oxygen species (ROS), cytotoxicity and decreased growth rate at dosages that may vary with cell types. (frontiersin.org)
  • The prostaglandin-endoperoxide synthase 2 gene (PTGS2), which encodes cyclooxygenase-2, was found to upregulate the expression of TGF-β2 ( 14 ). (spandidos-publications.com)
  • The gene, which is called MYBL2 , encodes a transcription factor that helps to control the cell division cycle. (elifesciences.org)
  • The researchers showed that human pluripotent stem cell (hPSC)-derived neural stem cells engineered with reduced expression of a gene called SOX9 differentiate preferentially into spinal motor neurons. (genengnews.com)
  • A total of 7 possible genetic alterations and epigenetic changes in CAFs are discussed, including gene differential expression, karyotype analysis, gene copy number variation, loss of heterozygosis, allelic imbalance, microsatellite instability, post‑transcriptional control and DNA methylation. (spandidos-publications.com)
  • CAFs are different from NFs, and their unique phenotypes and functions are partly determined by differences in gene expression. (spandidos-publications.com)
  • These results are consistent with another study concerning the gene expression profiling of breast CAFs, which were detected using a complementary DNA microarray ( 15 ). (spandidos-publications.com)
  • Manipulation of UPR markers has been made possible by the use of knockout mice, pharmacological agents, and viral vector-mediated augmentation of gene expression. (molvis.org)
  • Additionally, adeno-associated virus-mediated gene delivery is a safe and effective method for modulating gene expression, and thus is a useful research tool for manipulating individual UPR markers in affected retinas and a promising delivery vector for gene therapy in retinal degenerative disorders. (molvis.org)
  • Both ligands are required for mesoderm development, but their differential expression patterns suggest distinct functions during development. (biologists.com)
  • We also observed extensive chromosomal fusions and homologous gene expression decrease after polyploidization, which might offset the disadvantages of clonal reproduction and increase fitness in polyploid RKNs. (bvsalud.org)
  • To assess the effects of polyploidization, we compared a long-established polyploid line, the Whiting polyploid line (WPL) and a newly generated transformer knockdown line (tKDL) for fitness traits, absolute gene expression, and cell size and number. (bvsalud.org)
  • Expression analyses of two housekeeping genes indicated that gene dosage is linked to sex irrespective of ploidy. (bvsalud.org)
  • Myeloid malignancy patients lacking one copy of this gene showed levels of MYBL2 expression that were less than 50% of those in healthy individuals. (elifesciences.org)
  • This suggests that additional mechanisms must be acting to reduce expression of their remaining copy of the gene. (elifesciences.org)
  • Hence, this finding reveals a more general role for MYBL2 as it indicates that more patients are likely to be affected by altered expression of this gene. (elifesciences.org)
  • used gene silencing techniques to reduce the expression of MYBL2 in mice and showed that this induced symptoms of myeloid malignancies in the animals. (elifesciences.org)
  • The expression of the ice nucleation gene inaZ from Pseudomonas syringae in Zymomonas mobilis strains under the control of three different promoters was investigated to establish the utility of the gene as a reporter and examine the possible use of the organism as a source of ice nuclei for biotechnological applications. (moam.info)
  • We have investigated the expression of an ice nucleation gene, inaZ, originally cloned from Pseudomonas syringae (5), in Z. mobilis for two reasons. (moam.info)
  • this gene is a very useful reporter in other gram-negative bacteria because its activity can be measured by a very sensitive assay ($105-fold more sensitive than conventional reporters such as b-galactosidase) and its expression can be quantified by very simple methods, such as a droplet-freezing assay (6, 22, 9). (moam.info)
  • The sensitivity and specificity of such testing can now be improved as a result of the recent discovery of the Cystic Fibrosis Transmembrane Conductance Regulatory (CFTR) gene. (cdc.gov)
  • The discovery of the Cystic Fibrosis Transmembrane Conductance Regulatory (CFTR) gene (5) renewed interest in this possibility, as the sensitivity and specificity of testing could be improved through DNA-based testing. (cdc.gov)
  • ACTOS decreases insulin resistance in the periphery and in the liver resulting in increased insulin-dependent glucose disposal and decreased hepatic glucose output. (globalrph.com)
  • The metabolic changes produced by pioglitazone result in increased responsiveness of insulin-dependent tissues and are observed in numerous animal models of insulin resistance. (globalrph.com)
  • The authors concluded that long-term therapeutic doses of methylphenidate can have long-term degenerating effects in the brain. (madinamerica.com)
  • The authors concluded: "Adolescent cannabis users have greater psychotic like symptoms than adult cannabis users and adolescent controls, through an additive effect…However, adolescents have an amplified risk of severe CUD relative to adults, which in combination with being young, augments symptoms of mental ill health. (csequence.com)
  • in one study, 31 genes in breast CAFs, which were identified using Affymetrix Human Genome U133 Plus 2.0 and an empirical Bayesian model, were different from those in NFs ( 11 ). (spandidos-publications.com)
  • As a result of the rapid advances in genetics technology and the Human Genome Project, most of the estimated 100,000 genes in humans will be identified by the year 2005 (1). (cdc.gov)
  • We conclude that polyploidization is dependent on the duplicated genome characteristics and that genomes of different lines are unequally suited to survive diploidization. (bvsalud.org)
  • The most potent endogenous key is CCL3L1, a chemokine whose gene is found anywhere from zero to at least 14 times in a normal diploid genome. (the-scientist.com)
  • In the presented model, we use the logistic function to describe the rate of mitotic proliferation of healthy cells, the saturation function for virus-to-cell transmission, cell-to-cell transmission, and cellular and humoral immune. (springeropen.com)
  • Maintaining health and preventing infectious disease in the respiratory and gastro-intestinal tracts are critically dependent on the proper functioning of the immune system in relation to intestinal homeostasis. (poultryworld.net)
  • and hymenopteran sexual dosage compensation (despite the lack of sex chromosomes) all challenges general assumptions on hymenopteran biology. (bvsalud.org)
  • In combination with a conditional gene inactivation approach, we expressed N-cad in the absence of E-cad (referred to as Ncadk.i.) in alveolar epithelial cells of the mammary gland starting in late pregnancy. (biomedcentral.com)
  • E-cadherin (E-cad, Cdh1) is the founding member of the cadherin gene family and is essential for the integrity of epithelial tissues. (biomedcentral.com)
  • The first epithelial cell layer in the development of mouse embryos, the trophectoderm of blastocysts, requires E-cad for proper function. (biomedcentral.com)
  • Successful use of woody species in reducing climatic and environmental risks of energy shortage and spreading pollution requires deeper understanding of the physiological functions controlling biomass productivity and phytoremediation efficiency. (bvsalud.org)
  • Studies have also investigated cystatin C as a marker of kidney function in the adjustment of medication dosages. (wikipedia.org)
  • No dosage adjustment is recommended in elderly patients. (globalrph.com)
  • However, how neopolyploid detriment (sterility, gigantism, gene dosage imbalances) has been overcome and even been bridged to evolutionary advantage (gene network diversification, mass radiation, range expansion) is largely unknown, particularly for animals. (bvsalud.org)
  • Activation of PPARγ nuclear receptors modulates the transcription of a number of insulin responsive genes involved in the control of glucose and lipid metabolism. (globalrph.com)
  • Activation of PPARγ nuclear receptors regulates the transcription of insulin-responsive genes involved in the control of glucose production, transport, and utilization. (globalrph.com)
  • However, several other routine methods and tools for molecular genetic investigations, including the use of reporter genes for analysis of gene transcription and promoter function, have not yet been developed in Z. mobilis. (moam.info)
  • We describe a case of recurrent coccidioidal meningitis in which a fungal biofilm on the tip of ventriculo-peritoneal shunt tubing was likely responsible for a 4-year persistence of Coccidioides immitis, despite the patient's taking an adequate dosage of fluconazole. (cdc.gov)
  • The decreasing muscle strength in those who are affected may compromise the patient's ambulation potential and, eventually, cardiopulmonary function. (medscape.com)
  • Therapeutic regimens have been developed to manage the pain associated with nerve injury, as well as to restore the normal functioning of the nerve. (uspharmacist.com)
  • The success of complex antiretroviral regimens is dependent on consistent adherence of patients to the drugs. (who.int)
  • The liver function indices and LPO were increased significantly by intoxication of NDEA. (nature.com)
  • In addition, structural soft-tissue contractures and spinal deformities may develop from poor posturing caused by the progressive muscle weakness and imbalance, all of which can further compromise function and longevity. (medscape.com)
  • The lack of functioning muscle units causes weakness and, eventually, contractures. (medscape.com)
  • Cross-sectional studies (based on a single point in time) suggest that serum levels of cystatin C are a more precise test of kidney function (as represented by the glomerular filtration rate, GFR) than serum creatinine levels. (wikipedia.org)
  • Additionally, the age-related rise in serum cystatin C is a powerful predictor of adverse age-related health outcomes, including all-cause mortality, death from cardiovascular disease, multimorbidity, and declining physical and cognitive function. (wikipedia.org)
  • The UK's National Institute for Health and Care Excellence (NICE) guideline for the assessment and management of CKD in adults concluded that using serum cystatin C to estimate GFR is more specific for important disease outcomes than use of serum creatinine, and may reduce overdiagnosis in patients with a borderline diagnosis, reducing unnecessary appointments, patient worries, the overall burden of CKD in the population. (wikipedia.org)
  • In addition, PPARγ-responsive genes also participate in the regulation of fatty acid metabolism. (globalrph.com)
  • Several genes of the C-type lectin superfamily, including the rodent NKRP1 family of glycoproteins, are expressed by NK cells and may be involved in the regulation of NK cell function. (thermofisher.com)
  • The researchers reported on their developments in Advanced Science , in a paper titled, " Transplanting Human Neural Stem Cells with ≈50% Reduction of SOX9 Gene Dosage Promotes Tissue Repair and Functional Recovery from Severe Spinal Cord Injury ," in which they concluded, "Our findings represent a new paradigm in generating genetically modified hNSCs for the treatment of SCI. (genengnews.com)
  • The group concluded: "Results of the current study, along with recent findings by others suggest that lack of motivation may not be a key behavioral characteristic of frequent cannabis users. (csequence.com)
  • The results demonstrate both independent and overlapping functions of two FGF8 homologues in mesoderm morphogenesis and differentiation. (biologists.com)
  • We propose that the integration of Pyr and Ths function is required for robustness of Htl-dependent mesoderm spreading and differentiation, but that the functions of Pyr have become more specific, possibly representing an early stage of functional divergence after gene duplication of a common ancestor. (biologists.com)
  • Traumatic spinal cord injury (SCI results in the progressive loss of neurons involved in motor and sensory functions at and around the site of injury. (genengnews.com)
  • Particular inactivation of orexinergic neurons in wild-type mice by contact with anesthetizing dosages of isoflurane and sevoflurane. (gasyblog.com)
  • NKR-P1A, the receptor encoded by the KLRB1 gene, recognizes Lectin Like Transcript-1 (LLT1) as a functional ligand. (thermofisher.com)
  • A few types of N-termini (N1-N5) were observed, inside of that gene recombinational activities are likely to occur, typically together with fully-coding 'functional' as well as 'atypical' VSGs centrally located in between far more different VSGs. (fak-signal.com)
  • We following looked into the functional effects of impaired orexin signaling on induction and introduction from anesthesia through the use of transgenic mice that communicate a cell loss of life gene placed directly under the control of the prepro-orexin promoter, orexin/ataxin-3 mice, and within Mouse monoclonal to TLR2 their age-matched wild-type siblings. (gasyblog.com)
  • Strong considerations should be given to the intent of surgery, possible functional outcome, and preservation of anal continence and genitourinary functions. (medscape.com)
  • In addition to revealing a new tumor suppressor gene and its contribution to myeloid malignancies, the study by Heinrichs et al. (elifesciences.org)
  • The contribution of CCL3L1 gene dosage could be teased apart from that of the noncopy-dependent variant of CCR5, already known to confer some resistance to HIV infection and HIV progression. (the-scientist.com)
  • Formulas such as the Cockcroft and Gault formula and the MDRD formula (see Renal function) try to adjust for these variables. (wikipedia.org)
  • Genetic alterations include genetic mutation, gene copy number variation (CNV), loss of heterozygosity (LOH), allelic imbalance (AI) and microsatellite instability (MSI). (spandidos-publications.com)
  • It is now known that type II relates to a mutation in a different gene, the gene for the leukemia inhibitory factor receptor ( LIFR ). (medscape.com)
  • We conclude that we now have important distinctions in the neural substrates mediating induction and introduction. (gasyblog.com)
  • Hereditary and pharmacologic blockade of endogenous orexin signaling does not alter induction of isoflurane or sevoflurane anesthesia axis depicts the portion of mice which have dropped their righting reflex like a function from the log10 of raising concentrations of isoflurane or sevoflurane. (gasyblog.com)
  • and PhrpR, the promoter of hrpR, a regulatory gene from P. syringae pv. (moam.info)
  • Although the etiology of Alzheimer's disease (AD) is not completely understood, the study of disease genes that cause AD has revealed important clues about the pathogenesis of this disorder. (jneurosci.org)
  • We apply Pontryagin maximum principle to study these two control functions. (springeropen.com)
  • Using a precise dosage of vitamin D3 we can send them to the skin or, with just a slightly different vitamin A to D ratio, to the upper airways," he said. (poultryworld.net)
  • This was done by administering a particular vitamin A in a very precise dosage. (poultryworld.net)
  • Although studies are somewhat divergent, most studies find that cystatin C levels are less dependent on age, gender, ethnicity, diet, and muscle mass compared to creatinine, and that cystatin C is equal or superior to the other available biomarkers in a range of different patient populations, including diabetic patients, in chronic kidney disease (CKD), and after kidney transplant. (wikipedia.org)
  • It is crucial that we continue to develop new therapies for use in uveitis that aim to suppress disease activity, prevent accumulation of damage, and preserve visual function for patients with the minimum possible side effects. (dovepress.com)
  • The present review summarizes the recent achievements in understanding the gene profiles of CAFs and pays special attention to their possible epigenetic alterations. (spandidos-publications.com)
  • Disabilities in mental and psychomotor improvement, neuromotor function, or sensory and communication function are current in approximately one half of extraordinarily preterm fetuses. (ehd.org)
  • Atrazine (ATZ) is an environmental pollutant that interferes with several aspects of mammalian cellular processes including germ cell development, immunological, reproductive and neurological functions. (frontiersin.org)
  • And research published in January documented the first instance of the resulting gene-dosage effect on disease susceptibility: the effect of copy number. (the-scientist.com)
  • They are organized into sections on genetic theories (inherited mechanisms that cause or predispose people to be addicted), metabolic theories (biological, cellular adaptation to chronic exposure to drugs), conditioning theories (built on the idea of the cumulative reinforcement from drugs or other activities), and adaptation theories (those exploring the social and psychological functions performed by drug effects). (healthyplace.com)
  • Both establish calcium-dependent homophilic cell-cell adhesion with their extracellular domains and are connected with catenins at their intracellular domains [ 4 ]. (biomedcentral.com)
  • ATZ also induces morphological changes similar to apoptosis and initiates mitochondria-dependent cell death in several experimental models. (frontiersin.org)
  • 3) Somkuwar SS, Kantak KM, Dwoskin LP. Effect of methylphenidate treatment during adolescence on norepinephrine transporter function in orbitofrontal cortex in a rat model of attention deficit hyperactivity disorder. (madinamerica.com)
  • This can have a devastating effect on the drug dependent individual who will seek comfort with other drug addicts. (bvsalud.org)
  • The timing of surgical resection is dependent on the size, location, extent, and grade of the rectal carcinoma. (medscape.com)
  • 1 Many drugs used to manage pain due to nerve injury were developed as anticonvulsants and antidepressants, so it is important for pharmacists to be aware of the indication for which the drug is being used, as well as the recommended dosage for the particular indication. (uspharmacist.com)
  • Glomerular filtration rate (GFR), a marker of kidney health, is most accurately measured by injecting compounds such as inulin, radioisotopes such as 51chromium-EDTA, 125I-iothalamate, 99mTc-DTPA or radiocontrast agents such as iohexol, but these techniques are complicated, costly, time-consuming and have potential side-effects.Creatinine is the most widely used biomarker of kidney function. (wikipedia.org)
  • If kidney function and glomerular filtration rate decline, the blood levels of cystatin C rise. (wikipedia.org)
  • Because the association of cystatin C with long term outcomes has appeared stronger than what could be expected for GFR, it has been hypothesized that cystatin C might also be linked to mortality in a way independent of kidney function. (wikipedia.org)
  • Although the kidney functions as the major excretory system in mammals, monitoring and screening for mycotoxin induced nephrotoxicity is only now a developmental area in the field of livestock feed toxicology. (frontiersin.org)
  • This endeavor is defined within the core functions of public health agencies proposed by the Institute of Medicine: assessment, policy development, assurance, and evaluation (3,4). (cdc.gov)
  • Only two mu g/mL by any assessment method.Function: Parent oral health literacy will be suggested to be indicator involving children's oral health. (fak-signal.com)
  • We use two control functions in our model to show the effectiveness of drug therapy on inhibiting virus production and preventing new infections. (springeropen.com)
  • One of the optimal ways is to use the best drug dosage to treat and control the infection. (springeropen.com)
  • 2 , we formulate our new model with five state variables and two control functions. (springeropen.com)
  • Introduction from anesthesia was dependant on enough time elapsed from discontinuation of the anesthetic before return from the righting reflex. (gasyblog.com)
  • ABSTRACT: Nerve injuries cause considerable loss of function in many individuals. (uspharmacist.com)
  • Acknowledgments This function was supported with the NIH/NIMH under a Country wide Cooperative Drug Breakthrough and Advancement grant U01 MH08795. (careersfromscience.org)
  • They are responsible for the collapse of families and over-dosage deaths, but they also affect the economy of countries, as drug dealers are involved in money laundering. (bvsalud.org)