• Expression of the platelet-derived growth factor alpha receptor (PDGF alpha R) is strictly regulated during mammalian development and tumorigenesis. (nih.gov)
  • The molecular mechanisms involved in the specific regulation of PDGF alpha R expression are unknown, but transcriptional regulation of the PDGF alpha R gene is most likely to be involved. (nih.gov)
  • This study describes the molecular cloning of the non-coding exon 1 and approximately 2 kb of 5' flanking region of the human PDGF alpha R gene. (nih.gov)
  • This 5' flanking region is a functional promoter of the PDGF alpha R gene as concluded from its capacity to drive luciferase reporter gene expression in an orientation dependent way. (nih.gov)
  • In addition, the morphogen retinoic acid, alone or in combination with dibutyryl cAMP, gives a 22-fold induction of PDGF alpha R gene promoter activity in human teratocarcinoma cells. (nih.gov)
  • This effect is mediated through specific transcription factor binding within the -52/+118 region of the PDGF alpha R gene. (nih.gov)
  • PDGF-A and PDGF-C seem to be the important activators of PDGFRα during development because mice lacking functional genes for both these PDGFRA activating ligands, i.e. (wikipedia.org)
  • High PDGF Rβ quantities are associated with an inhibition of the destruction of cells containing PDGF Rβ, in particular if there is platelets aggregation as this will protect transformed cells from destruction. (neuro-lab.com)
  • Both platelet-derived growth factor (PDGF) A- and B-chains are expressed in mammalian neurons, but their precise roles still remain to be clarified. (jci.org)
  • In the present studies, we examined the expression of two PDGF receptor genes in human tumor cell lines derived from neural crest. (jci.org)
  • The expression of alpha and/or beta PDGF receptors was detected in a wide variety of neural crest-derived human tumor cell lines such as neuroblastoma, primitive neuroectodermal tumor, and Ewing's sarcoma by RNA blot analysis, and confirmed by immunoblot analysis. (jci.org)
  • PDGF isoforms as well as nerve growth factor induced morphological changes showing neuronal cell maturation. (jci.org)
  • Moreover, PDGF coordinately increased the levels of the transcript of the midsize neurofilament gene. (jci.org)
  • The platelet-derived growth factor (PDGF) family consists of four disulfide-linked homodimers and one heterodimer (PDGF-AB). (rndsystems.com)
  • PDGF-DD functions as a growth factor for renal artery smooth muscle cells and lens epithelial cells, and as a macrophage chemoattractant (5, 9‑11). (rndsystems.com)
  • The study is novel in that the researchers directly delivered bone-producing instructions (using piece of DNA that encodes for a platelet-derived growth factor called PDGF-B) to existing bone cells in vivo, allowing those cells to produce the proteins that led to more bone production. (sciencedaily.com)
  • The study evaluates the ability of osteoprogenitors treated with platelet-derived growth factor BB (PDGF-BB) delivered on vinyl styrene microbeads (VSM) to regenerate rat calvarial critical-size defects (CSDs). (allenpress.com)
  • Platelet-derived growth factor BB (PDGF-BB) is the most potent mitogenic and chemotactic member of PDGFs. (allenpress.com)
  • The pretreatment of osteoblastic cells with PDGF-BB before transplantation into osseous defects is investigated in the present study to further investigate the role of this growth factor in bone regeneration. (allenpress.com)
  • These growth factors are called PDGF-B (platelet derived-growth factor), which encourages cells to multiply and to migrate, and BMP-2 (bone morphogenetic protein) which helps stem cells to migrate and then help the progenitor cells convert into bone. (prohealth.com)
  • The researchers used gene encoding PDGF-B, platelet derived-growth factor, which encourages cells to multiply and to migrate, and gene encoding BMP-2, bone morphogenetic protein, which improves bone regeneration. (prohealth.com)
  • The mixture was created to release a burst of PDGF-B encoding gene in 10 days and a continuing release of BMP-2 encoding gene for five weeks. (prohealth.com)
  • The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor(PDGF/VEGF) family, is active in angiogenesis, lymphangiogenesis and endothelial cell growth and survival, and can also affect the permeability of blood vessels. (antibodies-online.com)
  • Testicular development involves the spatiotemporal control of PDGFs and PDGF receptors gene expression and action. (rupress.org)
  • In response to the presence of certain activating substances, including oxidized LDL, monocyte chemoattractant protein 1 (MCP-1), interleukin (IL)-8, and platelet-derived growth factor (PDGF), leukocytes migrate into the wall of the artery (see the image below). (medscape.com)
  • and growth factors, including PDGF and insulin-like growth factor (ILGF). (medscape.com)
  • Finally, MWCNTs induced the production of fibrogenic growth factors TGFbeta1 and PDGF that function as paracrine signals to promote the transformation of lung fibroblasts into myofibroblasts, a key molecular step in the development of lung fibrosis. (cdc.gov)
  • The protein is encoded in the human by the PDGFRA gene. (wikipedia.org)
  • Somatic mutations that cause the fusion of the PDGFRA gene with certain other genes occur in hematopoietic stem cells and cause a hematological malignancy in the clonal hypereosinophilia class of malignancies. (wikipedia.org)
  • These mutations create fused genes which encode chimeric proteins that possess continuously active PDGFRA-derived tyrosine kinase. (wikipedia.org)
  • In the most common of these mutations, the PDGFRA gene on human chromosome 4 at position q12 (notated as 4q12) fuses with the FIP1L1 gene also located at position 4q12. (wikipedia.org)
  • This interstitial (i.e. on the same chromosome) fusion creates a FIP1L1-PDGFRA fusion gene while usually losing intervening genetic material, typically including either the CHIC2 or LNX gene. (wikipedia.org)
  • An interstitial deletion del(4)(q12q12) generating a FIP1L1-PDGFRA fusion gene is observed in diverse eosinophilia-associated hematologic disorders like hyperseosinophilic syndrome (HES), systemic mastocytosis (SM) and chronic eosinophilic leukemia (CEL). (atlasgeneticsoncology.org)
  • One of the best techniques to detect the presence of the FIP1L1-PDGFRA fusion gene is using triple-color FISH probes hybridizing to the region between the FIP1L1 and PDGFRA genes incorporating the CHIC2 (cysteine-rich hydrophobic domain 2) gene. (atlasgeneticsoncology.org)
  • Ayvakit is a prescription medicine used to treat adults with a certain type of stomach, bowel, or esophagus cancer called gastrointestinal stromal tumor (GIST) that cannot be treated with surgery or that has spread to other parts of the body (metastatic), and that is caused by certain abnormal platelet-derived growth factor receptor alpha (PDGFRA) genes. (medicinenet.com)
  • Your healthcare provider will perform a test to make sure that you have this abnormal PDGFRA gene and that Ayvakit is right for you. (medicinenet.com)
  • The Human platelet-derived growth factor receptor alpha (PDGFRA) Gene D842V Mutation Detection Kit detects PDGFRA gene mutations in gastrointestinal stromal tumors (GIST) for patients receiving treatment with Ayvakit, CStone said in a statement. (genomeweb.com)
  • This gene set could assign blinded tumour samples with high accuracy, and the set includes genes for the platelet-derived growth factor receptor alpha (PDGFRA) and components of the Ras/MAP kinase signalling pathway. (the-scientist.com)
  • Patients with the FIP1L1/PDGFRA -associated fusion gene are more often males and may be responsive to low-dose imatinib (a tyrosine kinase inhibitor). (msdmanuals.com)
  • This gene encodes a typical receptor tyrosine kinase, which is a transmembrane protein consisting of an extracellular ligand binding domain, a transmembrane domain and an intracellular tyrosine kinase domain. (wikipedia.org)
  • Aliases include fallotein, SCDGF, spinal cord-derived growth factor, and secretory growth factor-like protein. (mmrrc.org)
  • The protein encoded by this gene is a member of the platelet-derived growth factor family. (antikoerper-online.de)
  • The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. (origene.com)
  • The pathology is caused by a mutation in the huntingtin gene which results in the production of an abnormal protein, mutant huntingtin (mHtt). (bmj.com)
  • Design and Methods The expression of hypoxia-inducible factor protein was examined in patients' bone marrow biopsy specimens using immunohistochemistry. (haematologica.org)
  • Results Strong hypoxia-inducible factor-2 protein expression was detected in CD138 + multiple myeloma plasma cells in patients' biopsy specimens. (haematologica.org)
  • Using bioinformatics analyses, we predicted HNK protein targets from several databases and retrieved the genes differentially expressed in mBCSCs from the GEO database. (hindawi.com)
  • The intersection between the differentially expressed genes (DEGs) and the HNK-targets was determined using a Venn diagram, and the results were analyzed using a protein-protein interaction network, hub gene selection, gene ontology and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses, genetic alteration analysis, survival rate, and immune cell infiltration levels. (hindawi.com)
  • Therefore, we should apply a combination of methods such as association, gene-gene interaction, epigenetics, linkage, gene expression, and protein analysis to find out the keloid etiology. (scirp.org)
  • The protein encoded by this gene is a member of the CMGC family of serine/threonine protein kinases. (cancerindex.org)
  • What does this gene/protein do? (cancerindex.org)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)
  • The candidate genes exhibit expression patterns in lung and heart similar to that of known PAH risk genes, and most variants occur in conserved protein domains. (biomedcentral.com)
  • This protein is structurally and functionally similar to vascular endothelial growth factor D(VEGF-D). The C terminus of VEGFC has cysteine-rich repeat units characteristic of the Balbiani ring 3 protein(BR3P) of the midge Chironomus tentans.1,2 The standard product used in this kit is recombinant human VEGF-C, consisting of 135 amino acids with the molecular mass of 23Kda after glycosylation. (antibodies-online.com)
  • For our NYSTEM proposal, we have developed novel means of infecting bone marrow stem cells to specifically target the deficient protein (factor VIII) in bone marrow stem cells that are the precursors for circulating blood platelets. (ny.gov)
  • While the mechanisms responsible for aberrant plasma cell expression of CXCL12 remain to be determined, studies in other systems suggest a role for hypoxia and hypoxia-inducible transcription factors. (haematologica.org)
  • The role of hypoxia-inducible factors-1 and -2 in the regulation of CXCL12 expression was examined using over-expression and short hairpin RNA knockdown constructs, electrophoretic mobility shift assays and chromatin immunoprecipitation. (haematologica.org)
  • Prolonged exposure to hypoxia strongly up-regulated CXCL12 expression in multiple myeloma plasma cells and hypoxia-inducible factor-2 was found to play a key role in this response. (haematologica.org)
  • Over-expression of hypoxia-inducible factor in multiple myeloma plasma cells strongly induced in vivo angiogenesis, and administration of a CXCL12 antagonist decreased hypoxia-inducible factor-induced angiogenesis. (haematologica.org)
  • Conclusions Hypoxia-inducible factor-2 is a newly identified regulator of CXCL12 expression in multiple myeloma plasma cells and a major contributor to multiple myeloma plasma cell-induced angiogenesis. (haematologica.org)
  • 12 It is well established that hypoxia is an important selective force in the evolution of tumor cells, 13 and elevated expression of the hypoxia-inducible transcription factors HIF-1 and HIF-2 has been documented in several human cancers. (haematologica.org)
  • Aberrant expression of DPPA2 and HIWI genes in colorectal cancer and their impacts on poor prognosis. (nih.gov)
  • An analysis integrating single-cell RNA-sequencing data identifies a subset of excitatory neurons preferentially expressing the genes hit by deleterious mutations, which are also characterized by high expression of developmental disorder genes. (nature.com)
  • Gene Transfer: Delivery and Expression of DNA and RNA provides the first comprehensive guide to technical approaches for delivering nucleic acids into cells and organisms and of ensuring (even manipulating) appropriate expression. (cshlpress.com)
  • These include viral and nonviral methods of gene delivery, transgenic approaches, strategies for the regulation of transgene expression, and modification of the host response. (cshlpress.com)
  • Causative factors for keloid are increased familial aggregation, a higher prevalence in certain races, parallelism in identical twins, and alteration in gene expression. (scirp.org)
  • Transcriptomes from the tissues of the brain-pituitary-gonad (BPG) axis of T10 samples revealed a differential gene expression profile compared to the other experimental groups, with clustering in a principal component analysis and in heat maps of all differentially expressed genes. (biomedcentral.com)
  • Altered expression of this gene has been observed in multiple human cancers. (cancerindex.org)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • In the Advanced Online Publication of Nature Genetics , Tobey MacDonald and colleagues from the Children's National Medical Center , Washington, DC, report the use of oligonucleotide expression profiling (Affymetrix G110 cancer arrays) to define a set of genes that are prognostic for medulloblastoma metastasis (DOI:10.1038/ng731). (the-scientist.com)
  • Expression of PDGFs and PDGFRs genes was observed in whole testis RNA 2 d before birth, increased through postnatal day 5 and fell to low levels in adult. (rupress.org)
  • In parallel, we have developed means for changing gene expression as a means of potentially treating bleeding disorders such as hemophilia. (ny.gov)
  • Transcript profiling of human platelets using microarray and serial analysis of gene expression (SAGE). (ny.gov)
  • Expression of therapeutic levels of factor VIII in hemophilia A mice using a novel adeno/adeno-associated hybrid virus. (ny.gov)
  • Low shear stress up-regulates expression of vascular cell adhesion molecule 1 (VCAM-1), while increased shear stress can lead to increased gene expression of intercellular adhesion molecule 1 (ICAM-1). (medscape.com)
  • Explore the normal functions of human genes and the health implications of genetic changes. (medlineplus.gov)
  • Virus-mediated gene therapy has the potential to deliver exogenous genetic material into specific cell types to promote survival and counteract disease. (frontiersin.org)
  • Modification in growth factors, excessive collagen, genetic and immunological factors contribute in keloid formation. (scirp.org)
  • Early genetic linkage and candidate gene studies indicated an autosomal dominant mode of inheritance for PAH risk. (biomedcentral.com)
  • These data suggest that additional genetic, epigenetic, environmental factors, and gene × environment interactions contribute to disease. (biomedcentral.com)
  • Genetic analyses of larger cohorts using gene panels, exome sequencing (ES), or genome sequencing (GS) have further defined the frequency of individuals with deleterious variants in PAH risk genes and have identified novel candidate risk genes. (biomedcentral.com)
  • Our laboratory is interested in genetic disorders of bleeding and thrombosis, focusing on blood platelets as the tools to understand the molecular basis of these disorders in humans. (ny.gov)
  • Multiplexed genetic profiling of human blood platelets using fluorescent microspheres. (ny.gov)
  • Evidence continues to accumulate to suggest important roles for inflammation and genetic factors in the process of atherosclerosis and specifically in stroke. (medscape.com)
  • Host genetic factors, moreover, may modify the response to these environmental challenges and are responsible for developmental vascular instability. (medscape.com)
  • Targeted or gene trap mutations are generated in strain 129/SvEvBrd-derived embryonic stem (ES) cells. (mmrrc.org)
  • For germline de novo mutations, we find significant enrichment of loss-of-function mutations in constrained genes (corrected- P = 0.0410) and deleterious mutations in presynaptic active zone genes (FDR = 0.0415). (nature.com)
  • In the analysis of postzygotic mutations, we observe significant enrichment of deleterious ones in developmental disorder genes ( P = 0.00135), including the SRCAP gene mutated in two unrelated probands. (nature.com)
  • These data collectively indicate the contributions of both germline and postzygotic mutations to the risk of bipolar disorder, supporting the hypothesis that postzygotic mutations of developmental disorder genes may contribute to bipolar disorder. (nature.com)
  • Do children with diffuse mesangial sclerosis in association with mutations of the Wilm's tumour suppressor gene (WT1) require bilateral nephrectomy? (ed.ac.uk)
  • Mutations in planar cell polarity gene SCRIB are associated with spina bifida. (cdc.gov)
  • Furthermore, a functional analysis of differentially expressed genes revealed enriched gene ontology terms involved in the regulation of circadian rhythm, histone modification, meiotic nuclear division, and others. (biomedcentral.com)
  • This thermoception may have caused the observed effects through epigenetic mechanisms, since all analysed tissues further revealed differentially expressed genes involved in histone modification. (biomedcentral.com)
  • Human neuroblastoma cells express alpha and beta platelet-derived growth factor receptors coupling with neurotrophic and chemotactic signaling. (jci.org)
  • Rare variant analysis of a large international consortium identified two new candidate genes- FBLN2 and PDGFD . (biomedcentral.com)
  • It is noteworthy that both TGF-β1 and MMP-2 and -9 are synthesized by activated platelets during their aggregation 9 . (bvsalud.org)
  • This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. (nih.gov)
  • Promoter haplotype combinations of the platelet-derived growth factor alpha-receptor gene predispose to human neural tube defects. (cdc.gov)
  • We have developed a unique infrastructure for studying the genetics of platelet diseases using RNA profiling techniques. (ny.gov)
  • Inherited risk for stroke is likely multigenic, although specific single-gene disorders with stroke as a component of the phenotype demonstrate the potency of genetics in determining stroke risk. (medscape.com)
  • The bone-regeneration kit relies on a collagen platform seeded with particles containing the genes needed for producing bone. (sciencedaily.com)
  • Keloids are benign hyper proliferative reaction of dermal fibroblasts demonstrated by the excessive deposition of extracellular matrix components, especially collagen, fibronectin, elastin, proteoglycans, and growth factors such as transforming growth factor (TGF) β. (scirp.org)
  • Introduction and Objective: Because L-PRP constitutes an important source of growth factor that is associated with osteogenesis and fibrogenesis, the aim of this study was to evaluate the effect of L-PRP on the presence of collagen III and MMP-2 and MMP-9, while comparing these results by means of a histomorphometric analysis of bone matrix and fibrous deposition on bone repair. (bvsalud.org)
  • Genes (Basel), 2023 Mar 31. (nih.gov)
  • SDF, stromal cell-derived factors. (cdc.gov)
  • Chromosomal translocations involving chromosome bands 5q31-33 that contain the gene encoding the platelet-derived growth factor beta receptor (PDGFRB) are associated with a significant minority of patients with BCR/ABL1-negative chronic myeloid neoplasms. (atlasgeneticsoncology.org)
  • Methods We assessed the functional status of platelets by performing ELISA, western blot and RNA sequencing in a cohort of 71 patients and 68 age- and sex-matched healthy control subjects. (bmj.com)
  • The human tryptase gene is encoded on chromosome 16 and codes for four isoenzymes: alpha, beta, gamma, delta, and epsilon (Table 1). (medscape.com)
  • This receptor binds to certain isoforms of platelet-derived growth factors (PDGFs) and thereby becomes active in stimulating cell signaling pathways that elicit responses such as cellular growth and differentiation. (wikipedia.org)
  • Finally, growth factors outside of the PDGFR family (non-PDGFs) activate PDGFRα indirectly. (wikipedia.org)
  • Platelet-derived growth factors (PDGFs) are growth-regulatory molecules that stimulate chemotaxis, proliferation and metabolism primarily of cells of mesenchymal origin. (rupress.org)
  • The predominant cell population expressing transcripts of the PDGFs and PDGFRs genes during prenatal and early postnatal periods were Sertoli cells and peritubular myoid cells (PMC) or their precursors, respectively, while in adult animals PDGFs and PDGFRs were confined in Leydig cells. (rupress.org)
  • Using a newly generated transgenic mouse in which PSCs are specifically labeled, we show that PSCs have a unique molecular signature that includes genes known to play critical roles in PSCs and synapses. (elifesciences.org)
  • Consistent with this, a number of studies have shown that patients with severe COVID-19 have highly elevated plasma levels of von Willebrand Factor (VWF) that may contribute to the prothrombotic phenotype. (imperial.ac.uk)
  • Multiple alternatively spliced transcript variants have been found for this gene. (origene.com)
  • It is, however, structurally related to platelet-derived growth factor. (ihcworld.com)
  • Transcription Factor CTCFL Promotes Cell Proliferation, Migration, and Invasion in Gastric Cancer via Activating DPPA2. (nih.gov)
  • Chemoresistance, or the insensitivity of cancer cells to drug therapy, is a major factor in the failure of chemotherapy against breast cancer. (hindawi.com)
  • Breast cancer stem cells (BCSCs) are one of the main factors driving chemoresistance, thereby contributing to poor prognosis and clinical outcomes [ 3 - 5 ]. (hindawi.com)
  • HNK controls various intracellular signaling pathways involved in cancer, including those related to nuclear factor kappa B (NF- B), signal transducers and activators of transcription 3 (STAT3), epidermal growth factor receptor (EGFR), and mammalian targets of rapamycin (mTOR) [ 12 ]. (hindawi.com)
  • Genes, Chromosomes and Cancer. (ed.ac.uk)
  • 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)
  • It was only during the past 2-3 decades with the discovery of growth factors that our understanding of the regulation of cell's growth and differentiation has begun to be clarified. (nobelprize.org)
  • Understanding gene function and regulation requires rigorous testing in live cells and organisms. (cshlpress.com)
  • Other trophic factors, such as IL-2, TNF-α, and granulocyte-macrophage stimulating factor, cause activated T cells to produce interferon-γ, TNF-α, and TNF-β, leading to stimulation of macrophages and further up-regulation of leukocyte adhesion molecules. (medscape.com)
  • The reason for its use is the higher number of platelets, which is an important source of growth factors, such TGF- β1, that hypothetically possess a stimulating effect on regulation and differentiation in mesenchymal tissue repair 10 . (bvsalud.org)
  • Since this outgrowth did not require direct contact between the tumour and the chick embryo, Rita Levi-Montalcini concluded that the tumour released a nerve growth-promoting factor which had a selective action on certain types of nerves. (nobelprize.org)
  • Results Our findings indicate that the platelets in HD are dysfunctional with respect to the release of angiogenic factors and functions including thrombosis, angiogenesis and vascular haemostasis. (bmj.com)
  • If we do that, the amounts of proteins are finite, but if we use gene therapy, the cells continue to produce the necessary growth factors. (prohealth.com)
  • cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. (wikipedia.org)
  • Vascular endothelial growth factor (VEGF) stimulates neurogenesis in vitro and in vivo. (ihcworld.com)
  • With thousands of clinical trials to date, gene therapy is a flourishing strategy with great promise for the treatment of diseases impacting the nervous system. (frontiersin.org)
  • The characterization of these growth factors is therefore expected, in the near future, to result in the development of new therapeutic agents and improved treatment in various clinical diseases. (nobelprize.org)
  • To identify new risk genes, we utilized an international consortium of 4241 PAH cases with exome or genome sequencing data from the National Biological Sample and Data Repository for PAH, Columbia University Irving Medical Center, and the UK NIHR BioResource - Rare Diseases Study. (biomedcentral.com)
  • Targeting the hypoxic niche, and more specifically hypoxia-inducible factor-2, may represent a viable strategy to inhibit angiogenesis in multiple myeloma and progression of this disease. (haematologica.org)
  • 14 , 15 HIF-1 and HIF-2 mediate adaptive responses to hypoxia by inducing the transcription of genes associated with erythropoiesis, glycolytic metabolism, cell survival and angiogenesis. (haematologica.org)
  • BACKGROUND: The von Willebrand factor (VWF) is a multimeric plasma glycoprotein essential for hemostasis, inflammation, and angiogenesis. (imperial.ac.uk)
  • They analysed 23 primary medulloblastomas that were either metastatic (M+) or non-metastatic (M0) and identified 85 genes that served for class prediction (59 genes were upregulated in metastatic tumours and 26 were decreased). (the-scientist.com)
  • Second, we construct a more comprehensive list of gDNMs in 354 BD trios and analyze the properties of the genes hit by deleterious gDNMs. (nature.com)
  • Third, we investigate genes recurrently hit by deleterious gDNMs in BD or a broad spectrum of neuropsychiatric/developmental disorders (DDs), including BD. (nature.com)
  • Also, our analysis of the genes hit by deleterious gDNMs or pzDNMs in BD provides insights into its neurobiology, including biological pathways related to BD and neuronal cell types possibly playing a critical role in the disease etiology. (nature.com)
  • The new genes were identified based solely on rare deleterious missense variants, a variant type that could not be adequately assessed in either cohort alone. (biomedcentral.com)
  • However, the known susceptibility variants are incompletely penetrant, many individuals who carry monogenic risk variants never develop PAH, and a subset of patients have deleterious variants in more than one risk gene. (biomedcentral.com)
  • Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. (cdc.gov)
  • 2 , 3 Bone engineering involves the delivery of cells or biologic molecules such as growth factors to a defect site for tissue regeneration. (allenpress.com)
  • A large number of studies have demonstrated that the synergistic collaboration of a number of microRNAs (miRNAs), their growth factors and their downstream agents is required for the initiation and completion of pathogenesis in the liver. (wjgnet.com)
  • Growth factors are essential for cell growth," said Ibrahim T. Ozbolat, associate professor of engineering science and mechanics. (prohealth.com)
  • We use two different genes encoding two different growth factors. (prohealth.com)
  • These growth factors help stem cells to migrate into the defect area and then help the progenitor cells to convert into bone. (prohealth.com)
  • This method is better than simply dumping the growth factors," said Ozbolat. (prohealth.com)
  • The targeted mouse gene is Pdgfc (platelet-derived growth factor, C polypeptide), the ortholog of human PDGFC. (mmrrc.org)
  • Human ortholog(s) of this gene implicated in IgA glomerulonephritis and familial encephalopathy with neuroserpin inclusion bodies. (mcw.edu)
  • The human gene encoding it is VEGFC. (antibodies-online.com)
  • Heterophilic antibodies, such as rheumatoid factor (RF) and human anti-mouse antibodies (HAMA), can bind to immune globulins of other species and thus interfere with the immunoassay since the tryptase immunoassay employs mouse-derived anti-tryptase. (medscape.com)
  • Additionally, we describe how neuropathology can negatively influence these pathways, and conclude by discussing opportunities to optimize the intramuscular administration route to maximize gene delivery and thus therapeutic potential. (frontiersin.org)
  • Objectives Seeking to elucidate the origin of these vascular and BBB abnormalities, we studied platelets that are known to play a role in maintaining the integrity of the vasculature and thrombotic pathways linked to this, given they surprisingly contain the highest concentration of mHtt of all blood cells. (bmj.com)
  • That is accomplished by transferring factors that modulate different metabolic and signaling pathways. (frontiersin.org)
  • Two splice variants have been identified for this gene. (antikoerper-online.de)
  • At least eight novel pediatric candidate genes carrying de novo variants have plausible roles in lung/heart development. (biomedcentral.com)
  • The clinical relevance of an- hypertension, hypercholesterolaemia and tiphospholipid antibodies derives from the hypertriglyceridaemia. (who.int)
  • 1 Autografts contain living cells and osteoinductive factors. (allenpress.com)
  • The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines, seven of which are found in this factor. (antikoerper-online.de)
  • Administration of gene therapy viruses into skeletal muscle, where distal terminals of motor and sensory neurons reside, has been shown to result in extensive transduction of cells within the spinal cord, brainstem, and sensory ganglia. (frontiersin.org)
  • Vascular endothelial growth factor is a mitogen primarily for vascular endothelial cells. (ihcworld.com)
  • Bioprinting bone with two growth factor-encoding genes helps incorporate bone cells and heal defects in the skulls of rats. (prohealth.com)
  • Now, an international team of engineers is bioprinting bone along with two growth factor encoding genes that help incorporate the cells and heal defects in the skulls of rats. (prohealth.com)
  • Blood platelets are generated from bone marrow stem cells, serving not only to control normal bleeding, but involved also in excessive clotting that may predispose to pathological disorders such as heart attacks and stroke. (ny.gov)
  • Eosinophil Production and Function Eosinophils are granulocytes (white blood cells that contain granules in their cytoplasm) derived from the same progenitor cells as monocytes-macrophages, neutrophils, and basophils. (msdmanuals.com)
  • Leukocyte-platelet-rich plasma (L-PRP) is a bloodderived portion composed of high concentrations of platelets and white cells, and it has been applied as autogenous biomaterial in bone repair 13 . (bvsalud.org)
  • Vascular endothelial growth factor (VEGF) induces remodeling and enhances TH2-mediated sensitization and inflammation in the lung. (ihcworld.com)
  • Background: Vascular endothelial growth factor C is a VEGF. (antibodies-online.com)
  • Occasional patients have had a chromosomal rearrangement with a 4q12 breakpoint, such as t(1;4)(q44;q12), which ultimately led to the identification of the fusion gene or t(4;10)(q12;p11) (Cools et al. (atlasgeneticsoncology.org)
  • Altered bioavailability of platelet-derived factor VIII during thrombocytosis reverses phenotypic efficacy in haemophilic mice. (ny.gov)
  • Although a coagulation profile (prothrombin time [PT], activated partial thromboplastin time [aPTT], and fibrinogen) should also be evaluated, its clinical value is unclear when the platelet count is 100,000/mm 3 or more with no evidence of bleeding. (medscape.com)
  • Promoter analyses revealed increased hypoxia-inducible factor-2 binding to the CXCL12 promoter under hypoxic conditions. (haematologica.org)
  • Genomic and proteomic applications in diagnosis of platelet disorders and classification. (ny.gov)
  • A mutation in this gene resulting in reduced cell proliferation, and impaired cell motility and polarity, and has been identified in patients with primary microcephaly. (cancerindex.org)
  • In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. (origene.com)
  • Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. (origene.com)
  • Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene. (nih.gov)
  • Several genes are considered responsible for keloid disease, but no single gene mutation has thus far been found to be responsible. (scirp.org)
  • Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder that is defined by a cytosine, adenine, guanine (CAG) repeat expansion in exon 1 of the huntingtin gene leading to the production of mutant huntingtin (mHtt). (bmj.com)