• This gene encodes a protein that is a member of the cysteine-aspartic acid protease (caspase) family. (wikipedia.org)
  • That protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. (wikipedia.org)
  • Caspase-activated DNase (CAD) or DNA fragmentation factor subunit beta is a protein that in humans is encoded by the DFFB gene. (wikipedia.org)
  • Caspase 3 is responsible for cellular differentiation, although it is unclear how this kind of protein can promote the cell apoptosis. (wikipedia.org)
  • Caspases are heterotetrameric, being made up of two pairs of subunits, generated by a single gene product, which is proteolysed to form the mature protein. (guidetopharmacology.org)
  • The protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. (cancerindex.org)
  • What does this gene/protein do? (cancerindex.org)
  • Huntingtin contains a few domains that suggest particular functions, including WW domains and caspase cleavage sites ( 7 , 8 ), but the function of the protein remains unknown. (jci.org)
  • The results demonstrated that Vitexin pretreatment significantly reduced neuronal apoptosis, and inhibited caspase‑3 activity, apoptosis regulator BAX protein expression and malondialdehyde levels in sevoflurane‑induced newborn rats. (spandidos-publications.com)
  • 1) The alternation of protein levels of critical oncogenes or tumour suppressor genes, which causes by miRNAs deregulation may also lead to proliferative diseases such as cancer. (ukessays.com)
  • Activation of P2Y12 receptor first phosphorylates BAD through the PI3K Akt pathway, and the liquid acidified BAD binds to 14-3-3 protein to separate BAD from BAD Bcl-XL complex, thus releasing free Bcl-XL. (researchsquare.com)
  • TNFRSF12A (TNF Receptor Superfamily Member 12A) is a Protein Coding gene. (abeomics.com)
  • They are usually generated from either exons or introns of both protein-coding and non-coding transcripts that are processed by RNA polymerase II (Pol II) [ 12 - 14 ]. (ijbs.com)
  • Mutations in this gene are associated with apoptosis defects seen in type II autoimmune lymphoproliferative syndrome. (wikipedia.org)
  • In recent years, our understanding of genetic predisposition to PD has advanced vastly, including causative mutations in the genes encoding α-synuclein, LRRK2, parkin, PINK1, and DJ-1 just to name a few 5 . (nature.com)
  • These "disease genes" contain mutations that increase susceptibility to a disease phenotype, but are tolerated well enough as to not cause lethality in early developmental stages. (biomedcentral.com)
  • From an evolutionary perspective, human disease genes tend to have particularly ancient origins [ 3 ]-[ 6 ], suggesting that disease-causing mutations are more often identified in "older" genes. (biomedcentral.com)
  • The cone-enriched apoptotic protease caspase-7 ( Casp7 ) is thought to be triggered by endoplasmic reticulum (ER) stress and plays a pivotal role in mice deficient in the cone cyclic nucleotide-gated channels, a deficiency that causes achromatopsia in humans and in mice with autosomal dominant rhodopsin mutations, in particular the T17M mutation. (molvis.org)
  • The disease is often caused by mutations in rod photoreceptor (PR) specific genes resulting in initial loss of night vision. (molvis.org)
  • Understanding the underlying cause of secondary cone death may allow for the development of treatments that are applicable to all individuals with mutations in rod-specific genes. (molvis.org)
  • For practical purposes, depending on the enzyme activity and the presence of mutations in the G6Pase and T genes, respectively, GSD type I may be subdivided into 2 major forms. (medscape.com)
  • It is an autosomal recessive disorder in which there is an AGL gene mutations which causes deficiency in glycogen debranchinging enzyme and limited storage of dextrin. (medscape.com)
  • Per usual in non-apoptotic growing cells caspase activated dnase is held in check inactivated in the cytoplasm thanks to the association with its inhibitor, inhibitor of caspase-activated DNase (ICAD) also known as DNA fragmentation factor 45 kDa (DFF45). (wikipedia.org)
  • We performed differential transcriptomic analysis between control metamorphosing larvae and larvae treated with the pan-caspase inhibitor Z-VAD-fmk in order to explore the transcriptional control of apoptotic cells on neighbouring cells that survive and migrate. (biomedcentral.com)
  • CAD release from ICAD inhibition is achieved by cleavage of ICAD at these Asp residues by the caspase-3. (wikipedia.org)
  • Caspases, a class of cysteine proteases, are central players in the apoptotic process that trigger a cascade of proteolytic cleavage events [ 14 ]. (biomedcentral.com)
  • 2021 Aug 14;7(8):e07808. (lu.se)
  • Journal of cancer research and therapeutics 2018 3 14 (2): 388-393. (cdc.gov)
  • The microenvironments of the low- and high-risk groups were assessed using xCell, the expression of immune checkpoints was determined, and gene set variation analysis (GSVA) was performed. (hindawi.com)
  • The Chinese soft-shelled turtles were infected with Aeromonas hydrophila and Vibrio parahaemolyticus, and their innate immune responses were investigated from PsCaspase-14 mRNA expression levels in various tissues by using real-time PCR method. (trjfas.org)
  • Evaluating the capacity of caspases to affect gene expression and influence fate and/or behaviour of cells adjacent to apoptosis is the first fundamental step to better characterise this new function in animals. (biomedcentral.com)
  • Total RNA was extracted and a MiRNA array was performed (miScript™ miRNA PCR Array), profiling the expression of 84 MiRNAs predicted to regulate pro- or anti-inflammatory genes. (ecco-ibd.eu)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • Moreover, we identified that PARIS actively modulates expression of PPARγ target genes by physically binding to the promoter regions. (nature.com)
  • The lentivirus-mediated overexpression of psoriasin, mimicking the psoriatic milieu, gave rise to an altered regulation of differentiation genes and an expression pattern reminiscent of that in psoriatic epidermis. (medicaljournals.se)
  • Each of these layers is characterized by specific features in terms of gene expression, function and cellular mor-phology (1). (medicaljournals.se)
  • To identify specific markers of CRT response, we compared pretreatment biopsies from LACC patients with pathological complete response (sensitive) with those from patients showing macroscopic residual tumor (resistant) after neoadjuvant CRT, using a proteomic approach integrated with gene expression profiling. (biomedcentral.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)
  • In recent years, the MAPK family has been found to be an important signal-regulating enzyme between cell surface receptors and determinants of gene expression ( 8 ). (spandidos-publications.com)
  • As miRNAs proposed to control the expression up to one third of all genes and possibly utilised as diagnostic and prognostic marker for many genetic based diseases. (ukessays.com)
  • Within the nucleus, FKHRL1 triggers apoptosis most likely by inducing the expression of genes that are critical for cell death, such as the Fas ligand gene. (scienceopen.com)
  • Effects of this therapy were evaluated histologically, and by immunohistochemical and gene expression assays. (lu.se)
  • Four latency types (0, I, II, III) are defined depending on the expression pattern of EBV latent genes, and at the same time are linked to a particular tumor type [ 6 , 7 ]. (ijbs.com)
  • miRNAs are able to post-transcriptionally control gene expression by binding to target mRNAs [ 15 ]. (ijbs.com)
  • By gene-gene interaction analysis, we found that the expression of RALA was highly correlated to the expression of ABCE1. (bvsalud.org)
  • We examined m6a methylation-related genes and found that m6A methylation is responsible for the abnormal expression of RALA. (bvsalud.org)
  • Within this research we asked whether SRSF1 contributes to the regulation of gene expression at the level of transcription. (immune-source.com)
  • Western Blot and TUNEL results suggested that Nigella sativa seed extracts regulated the expression of pro- and anti- apoptotic genes, indicating its possible development as a potential therapeutic agent for cervical cancer upon further investigation. (biomedcentral.com)
  • p53 Codon 72 Gene Polymorphism Studies and p53 Expression by Immunohistochemistry in Oral Lesions as Risk Factor for Malignancy. (cdc.gov)
  • Microarray profiling of hypothalamic gene expression changes in Huntington's disease mouse models. (lu.se)
  • The data presented is normalized to the expression of Rpl32 , a housekeeping gene. (cdc.gov)
  • This gene thus plays a role in both cell-cycle and epigenetic regulation. (cancerindex.org)
  • We identified annexin A2 (ANXA2), N-myc downstream regulated gene 1 (NDRG1) and signal transducer and activator of transcription 1 (STAT1) as biomarkers of LACC patients' responsiveness to CRT. (biomedcentral.com)
  • Hypoxia inducible factor-1 (HIF-1) is an oxygen-sensitive transcriptional regulator that regulates more than 70 downstream target genes, including vascular endothelial growth factor, erythropoietin, glucose transporter and so on ( 5 ). (spandidos-publications.com)
  • In nucleated cells, BAD is an important target gene downstream of Akt [ 9 ] and belongs to the pro-apoptotic Bcl-2 family of proteins. (researchsquare.com)
  • In the presence of survival factors, Akt phosphorylates FKHRL1, leading to FKHRL1's association with 14-3-3 proteins and FKHRL1's retention in the cytoplasm. (scienceopen.com)
  • Caspase-10 is an enzyme that, in humans, is encoded by the CASP10 gene. (wikipedia.org)
  • Caspases exist as inactive proenzymes that undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. (wikipedia.org)
  • Besides cancer, some miRNAs genes cause or contribute in many inherited and genetic based diseases. (ukessays.com)
  • While caspase-dependent signals emitted by apoptotic cells start to be characterised, almost no target genes are identified in receptor cells. (biomedcentral.com)
  • Oddly enough we recently confirmed that forced appearance of SRSF1 into T cells from SLE sufferers rescued IL-2 creation and mediated a rise in mRNA appearance and transcriptional activation [14]. (immune-source.com)
  • Explore the normal functions of human genes and the health implications of genetic changes. (medlineplus.gov)
  • We used a comparative genomics approach encompassing a broad phylogenetic range of animals with sequenced genomes to determine the evolutionary patterns exhibited by human genes associated with different classes of disease. (biomedcentral.com)
  • The set of human genes implicated in Mendelian diseases are of particular interest in biomedical research. (biomedcentral.com)
  • DFFA is encoded by an alternatively encrypted mRNAs originating two distinct forms: short (ICAD-S) and long (ICAD-L), which act like a specific chaperone ensuring the correct CAD's folding Besides, it contains two aspartic acid residues (Asp117 and Asp224) where CAD is identified and, consequently, it stays bounded until Caspase-3 splits this union. (wikipedia.org)
  • ICAD has two caspase recognition sites at Asp117 and Asp224. (wikipedia.org)
  • The caspase-3 His-237 stabilizes the target Aspartate causing the break of the association of ICAD and CAD leaving the endonuclease CAD active allowing it to degrade chromosomal DNA. (wikipedia.org)
  • Various modifications cooperate to regulate FoXO1 activity and FoXO1 target gene transcription. (scienceopen.com)
  • We hypothesized that FO might regulate related genes in apoptosis and PI3K-AKT pathways to mediate the proliferation and apoptosis of liver cancer cells. (hindawi.com)
  • p53, a tumor suppressor gene, helps regulate the cell cycle. (biomedcentral.com)
  • Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. (wikipedia.org)
  • Caspase-3 activation is a cell requirement during early stages of the skeletal myoblast differentiation. (wikipedia.org)
  • Caspase signals resulting from the activation of nuclease CAD indicate that the cell differentiation is due to a CAD modification in chromatin structure. (wikipedia.org)
  • Survival factor withdrawal leads to FKHRL1 dephosphorylation, nuclear translocation, and target gene activation. (scienceopen.com)
  • Apoptotic signaling is initiated either through extrinsic or intrinsic stimulation, resulting in the activation of caspases [ 12 ]. (biomedcentral.com)
  • Organic solvent-induced proximal tubular cell toxicity via caspase-3 activation. (cdc.gov)
  • Casp7 knockout mice were crossed to two different RP mouse models with significantly different rod and cone death kinetics: the rd1 mouse model, which carries a mutation in the Pde6b gene, and the rhodopsin knockout mouse model ( Rho-KO or Rho -/- ). (molvis.org)
  • Our results support previous claims that most human disease genes are of ancient origin but, more importantly, we also demonstrate that several specific disease classes have a significantly large proportion of genes that emerged relatively recently within the metazoans and/or vertebrates. (biomedcentral.com)
  • Psoriasin, which is highly expressed in psoriasis, is encoded by a gene located within the epidermal differentiation complex. (medicaljournals.se)
  • In addition, the gene that encodes psoriasin is positioned within the epidermal differentiation complex (EDC) (10-12), a gene cluster that contains several genes of importance in the terminal differentiation of the human epidermis (10, 11). (medicaljournals.se)
  • Accumulating evidence in many metazoans suggest that apoptotic cells can emit caspase-dependent signals to their neighbours, modulating their fate (survival/death, differentiation or proliferation) or behaviour (migration) [ 12 , 13 ]. (biomedcentral.com)
  • Caspase-3 is activated in the apoptotic cell. (wikipedia.org)
  • Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity. (medscape.com)
  • Apoptosis is a caspase regulated cell death present in all metazoans defined by a conserved set of morphological features. (biomedcentral.com)
  • In contrast to the apoptotic function of cell elimination, this new role of apoptosis is not well understood but seems caspase-dependent. (biomedcentral.com)
  • When caspase activity was impaired, genes known to be involved in metamorphosis were downregulated along with other implicated in cell migration and survival molecular pathways. (biomedcentral.com)
  • Thus, identifying a specific caspase as part of a cell death mechanism can give insights into the underlying cause for cell death. (molvis.org)
  • Animal models treated with green tea also showed reduced levels of proliferating cell nuclear antigen, a gene expressed when skin cells multiply. (seaweedbathco.com)
  • The colo320 cell was analyzed by the gene silencing method. (biomedcentral.com)
  • Cancer gene therapy approaches include the direct killing of tumor cells by injecting a therapeutic gene into the tumor cell or employing vaccine strategies to deliver an immunomodulatory gene that stimulates the immune system to recognize tumor antigens [ 1 ]. (biomedcentral.com)
  • Exome sequencing of oral leukoplakia and oral squamous cell carcinoma implicates DNA damage repair gene defects in malignant transformation. (cdc.gov)
  • Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/ threonine kinase Akt, which then phosphorylates and inactivates components of the apoptotic machinery, including BAD and Caspase 9. (scienceopen.com)
  • Attenuated huntingtin gene CAG nucleotide repeat size in individuals with Lynch syndrome. (lu.se)
  • Cytochrome P450-based suicide gene therapy for cancer using prodrugs such as cyclophosphamide (CPA) increases anti-tumor activity, both directly and via a bystander killing mechanism. (biomedcentral.com)
  • The scientists found that the tea slowed the production of skin cells by regulating the activity of Caspase-14. (seaweedbathco.com)
  • string in individual T cells [12 13 We demonstrated that T cells from SLE sufferers express reduced degrees of SRSF1 way more sufferers with worse disease as dependant on Piceatannol their SLE disease activity index (SLEDAI) [14]. (immune-source.com)
  • Sequence alignment, phylogenetic analyses, and structure comparison revealed that PsCaspase-14 is a member of the Caspase family. (trjfas.org)
  • Our results reveal the heterogeneity underlying the evolutionary origins of (and selective pressures on) different classes of human disease genes. (biomedcentral.com)
  • After gene manipulation, we further investigated the characteristics of cellular HMGB1 in HEI-OC1 cells. (frontiersin.org)
  • Mechanistic investigations demonstrated the key role of the identified genes in the balance between death and survival of tumor cells. (biomedcentral.com)
  • The aim of this study was to evaluate serum levels of caspase-3, caspase-8, and caspase-9 in women with ovarian cancer. (mdpi.com)
  • Our results define a predictive gene signature that can help in cervical cancer patient stratification, thus providing a useful tool towards more personalized treatment modalities. (biomedcentral.com)
  • These 12 genes are located at a region, which is frequently deleted in cancer. (ukessays.com)
  • Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2) is a key gene in mediating the formation of the stabilized collagen cross-link, playing an important role in the progression of cancer. (bvsalud.org)
  • Directly targeting therapeutic suicide gene to a solid tumor is a hopeful approach for cancer gene therapy. (biomedcentral.com)
  • Meanwhile, three human digestive system xenograft tumor models (colorectal cancer colo320, gastric cancer MKN-45 and liver cancer SSMC-7721) and a breast cancer (MDA-MB-231) model were employed to validate the universality of BF-rTK + GCV in solid tumor gene therapy. (biomedcentral.com)
  • Survival analysis results of multiple cancer models confirmed that BF-rTK + GCV system has a wide field of application in solid tumor gene therapy. (biomedcentral.com)
  • Risk Modulation of Oral Pre Cancer and Cancer with Polymorphisms in XPD and XPG Genes in North Indian Population. (cdc.gov)
  • Together, our work revealed how PARIS drives adverse effects on modulation of PPAR-γ associated gene clusters in DA neurons. (nature.com)
  • The selector gene cut is expressed at different levels in the da neurons. (ucsf.edu)
  • The Herpes Simplex Virus thymidine kinase/ganciclovir (HSV-TK + GCV) system is currently one of the best-studied tumor suicide gene therapy systems [ 9 - 11 ]. (biomedcentral.com)
  • Three alternatively spliced transcript variants encoding different isoforms have been described for this gene. (wikipedia.org)
  • Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. (wikipedia.org)
  • Methods: The target gene PLOD2 was screened through our own RNA-seq results and other two RNA-seq results from GEO database. (bvsalud.org)