• Mutations within the UBE3A gene are responsible for some cases of Angelman syndrome and Prader-Willi syndrome. (wikipedia.org)
  • Like mutations within the gene, these chromosomal changes prevent any functional ubiquitin protein ligase E3A from being produced in the brain. (wikipedia.org)
  • Mutations in this gene have been associated with Johanson-Blizzard syndrome. (nih.gov)
  • More than 40 variants (also known as mutations) in the ATP6V0A2 gene have been identified in people with cutis laxa. (medlineplus.gov)
  • Mutations in the RAS , PIK3CA , and PTEN genes in the PI3K pathway are the main genetic driving force of this pathway in human cancers, including thyroid cancers, particularly FTC and ATC [ 8 , 9 ]. (oncotarget.com)
  • Mutations in these genes affect proteins involved in the signaling pathway for pigment production and explain a large amount of the color variation in mammals. (creation.com)
  • These factors may cause mutations or abnormal expression of certain oncogenes and tumor suppressor genes, leading to the occurrence or development of CRC [ 2 ]. (hindawi.com)
  • The PMP22 gene is located on chromosome 17p11.2 and mutations as well as alterations in the gene dosage are causative for a group of hereditary neuropathies affecting approximately 1 in 2500 humans 2 , 3 . (biorxiv.org)
  • PD-L1 (CD274) copy number gain, expression, and immune cell infiltration as candidate predictors for response to immune checkpoint inhibitors in soft-tissue sarcoma. (uni-heidelberg.de)
  • Targeting Fibroblast Growth Factor Receptor 1 for Treatment of Soft-Tissue Sarcoma. (uni-heidelberg.de)
  • Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children (see the image below). (medscape.com)
  • It has been reported that B7-H3 preferentially overexpressed in various tumors but low expression in normal tissues [ 12 ]. (biomedcentral.com)
  • For instance, Deng et al ( 8 ) compared 66 pairs of hepatic carcinoma tissues and normal tissues and found that CCAT1 expression was increased in liver cancer tissues, and that the degree of upregulation was associated with tumor size, vascular invasion and serum alpha-fetoprotein level. (spandidos-publications.com)
  • It is expressed in the germ cells of adult testes and in developing fetal testes and ovaries, but not in any other normal tissues. (cyagen.com)
  • Screen Targeting Lung and Prostate Cancer Oncogene Identifies Novel Inhibitors of RGS17 and Problematic Chemical Substructures. (nih.gov)
  • Pan-cancer analysis of copy number changes in programmed death-ligand 1 (PD-L1, CD274) - associations with gene expression, mutational load, and survival. (uni-heidelberg.de)
  • The term "oncotarget" encompasses all molecules, pathways, cellular functions, cell types, and even tissues that can be viewed as targets relevant to cancer as well as other diseases. (oncotarget.com)
  • Through a genome-wide search for such genes that were epigenetically controlled by the PI3K pathway in thyroid cancer cells, we found a wide range of genes with broad functions epigenetically targeted by the PI3K pathway. (oncotarget.com)
  • Demethylating the hypermethylated REC8 gene restored its expression in thyroid cancer cells in which the PI3K pathway was genetically over-activated and induced expression of REC8 protein inhibited the proliferation and colony formation of these cells. (oncotarget.com)
  • Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). (cancerindex.org)
  • Following detection, we annotated the gene fusions using published databases for gene fusions in cancer. (biomedcentral.com)
  • PTEN (phosphatase and tensin homolog deleted on chromosome 10) belongs to a cancer suppressor gene (one of the protein phosphatases). (aging-us.com)
  • Using the ONCOMINE and Gene Expression Omnibus (GEO) databases, we compared the gene expression of 24 importins and exportins in 20 cancer microarray datasets and then analyzed the survival of the candidate genes, CSE1L (Chromosome Segregation Like 1 protein/CAS) was finally selected. (researchsquare.com)
  • Increased expression of CSE1L in tumor tissues associated with shorter survival times and advanced pathological stage of patients with cancer. (researchsquare.com)
  • Genes Chromosomes Cancer 2022 Sep;61(9):542-550. (nih.gov)
  • NSD3-NUT-expressing midline carcinoma of the lung: first characterization of primary cancer tissue. (nih.gov)
  • Although the gene YBX2 is not the direct cause of cancer, it seems to be inextricably linked to cancer, and the latest research shows that high YBX2 expression is unfavorable in prognosis of endometrial cancer. (cyagen.com)
  • Biomarker Discovery and Outcomes for Comprehensive Cell-Free Circulating Tumor DNA Versus Standard-of-Care Tissue Testing in Advanced Non-Small-Cell Lung Cancer. (cdc.gov)
  • Association of Family Cancer History With Pathogenic Variants in Specific Breast Cancer Susceptibility Genes. (cdc.gov)
  • Impact of Variant Reclassification in Cancer Predisposition Genes on Clinical Care. (cdc.gov)
  • To better understand the molecular changes associated with AD, genome-wide association studies (GWAS) have identified hundreds of candidate genes linked to the disease, like the receptor tyrosine kinase EphA1. (sdbonline.org)
  • Unlike in rodents, X chromosome inactivation is not observed during monkey pre-implantation development. (nature.com)
  • Burt proposed that such methods could be applied to engineer HEGs that recognise and cleave sequences within coding sequences of genes in insect genomes, with the subsequent invasion of these HEGs into a population leading to the inactivation of target genes and the subsequent decline in fitness of the targeted population [2] . (plos.org)
  • While the selective inactivation of Ophiostoma genes by insertional mutagenesis remains a challenge, an alternative approach based on RNA interference is now available for down-regulating the expression of targeted genes. (sisef.it)
  • Conditional gene targeting has been extensively used for in vivo analysis of gene function in adipocyte cell biology but often with debate over the tissue specificity and the efficacy of inactivation. (diabetesjournals.org)
  • This gene encodes a member of the regulator of G-protein signaling family. (nih.gov)
  • HER-2/neu , also known as c-erbB-2/neu , is an oncogene located in chromosome 17 which encodes HER-2/neu, a transmembrane protein belonging to the EGFR family. (degruyter.com)
  • YBX2 (Y-Box Binding Protein 2) is a Protein Coding gene that encodes a nucleic acid binding protein which is highly expressed in germ cells. (cyagen.com)
  • This enzyme is involved in targeting proteins for degradation within cells. (wikipedia.org)
  • The ATP6V0A2 gene provides instructions for making one part, the a2 subunit, of a large protein complex (a group of proteins that work together). (medlineplus.gov)
  • Elastic fibers are slender bundles of proteins that provide strength and flexibility to connective tissue (tissue that supports the body's joints and organs). (medlineplus.gov)
  • In the majority of cases, Rf genes produce proteins that act directly on the CMS conferring mitochondrial transcripts by binding them specifically and promoting processing events. (frontiersin.org)
  • In the majority of cases, Rf genes produce proteins that bind specifically to the CMS conferring transcripts in the mitochondria and promote processing events leading to a strong reduction in the production of mitochondrial CMS-inducing proteins (reviewed in Chen and Liu, 2014 ). (frontiersin.org)
  • The differentially expressed genes included those functioning in some important immune reaction and iron metabolism pathways, such as pattern recognition receptors, regulators of the JNK pathway, components of the phagosome pathway, regulators of the melanization response, activators of complement reactions, insulin signaling cascade members, oxidative stress and detoxification proteins. (biomedcentral.com)
  • functional" genes encoding proteins such as late embryogenesis-associated proteins, detoxification enzymes, heat shock proteins and molecular chaperones, which directly protect plants from abiotic stress, and "regulatory" genes encoding proteins such as protein kinases and transcription factors (TFs), which have roles in the perception and transduction of stress signals. (biomedcentral.com)
  • Adipose tissue plays an important role in metabolism through its storage and release of triglycerides, peptide hormones (adipokines) and other proteins, and in the case of brown fat, for its role in thermogenesis ( 1 ). (diabetesjournals.org)
  • Gene expression is controlled at numerous levels with the help of regulatory proteins. (cyagen.com)
  • These regulatory proteins, which include transcription factors, bind to DNA and send signals that influence the rate of gene transcription by RNA. (cyagen.com)
  • Gene regulator proteins are divided into two types: enhancers (up-regulators) and inhibitors (down-regulators), which respectively refer to proteins that lead to either an increase or decrease in the expression of a gene. (cyagen.com)
  • The therapeutic targets in clinical practice only include DNA microsatellite instability and the changes in B-Raf proto-oncogene ( BRAF ) gene [ 4 ]. (aging-us.com)
  • Oncogene 2008 Apr 3;27(15):2237-42. (nih.gov)
  • Chronic myeloid leukemia (CML) is a clonal expansion of the progenitor hematopoietic stem cells arising from the existence of the fusion BCR-ABL oncogene, that represents 15%-20% of the newly diagnosed cases of leukemia patients [ 1 - 2 ]. (jcancer.org)
  • miRNAs are approximately 22-nucleotide non-coding RNAs that participate in post transcriptional gene expression regulation through mRNA degradation, translational inhibition or chromatin-based silencing mechanisms. (sarcomahelp.org)
  • Pharmacologic manipulation of microRNA expression has been undertaken in the form of in vivo miRNA delivery of downregulated miRNAs and "antagomirs" targeting upregulated miRNAs. (sarcomahelp.org)
  • In this study, we aimed to investigate the effects of miRNAs targeting NEK6 in COAD cells. (hindawi.com)
  • Public data and online analysis sites were used to analyze the expression levels of NEK6 and miR-323a-3p in COAD tissues as well as the relationship between NEK6 or miR-323a-3p levels and survival in patients with COAD and to predict miRNAs targeting NEK6. (hindawi.com)
  • miRNAs expressed in a wide variety of human cancers can regulate posttranscriptional gene expression by binding to the 3′ untranslated region of the target mRNAs and act as oncogenes or tumor suppressors to regulate cell signaling pathways, affecting tumorigenesis and tumor progression [ 17 ]. (hindawi.com)
  • MicroRNAs (miRNAs) are endogenous short non-coding RNA molecules that can post-transcriptionally regulate gene expression and play a critical role in gonadal differentiation as well as early development of animals. (peerj.com)
  • The KIT gene is rather complex consisting of 21 exons in a 70 kb region. (creation.com)
  • Rats tolerant to i.t. morphine showed increased expression of exons I, IV, and IX of the BDNF gene, and had elevated levels of pro-BDNF and BDNF protein in their lumbar spinal cord. (bvsalud.org)
  • AMY, when co-administered with morphine from days 6 to 10, reversed morphine tolerance and adversely affected the morphine-induced expression of the BDNF gene at both levels of protein and mRNAs containing exons I, IV and IX. (bvsalud.org)
  • The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. (nih.gov)
  • We hypothesized that aberrant methylation and hence altered expression of certain unknown important genes induced by the genetically activated PI3K pathway signaling is a major epigenetic mechanism in human tumorigenesis. (oncotarget.com)
  • The most prominent among these genes was REC8 , classically known as a meiotic-specific gene, which we found to be robustly down-regulated by the PI3K pathway through hypermethylation. (oncotarget.com)
  • These findings are consistent with REC8 being a novel major bona fide tumor suppressor gene and a robust epigenetic target of the PI3K pathway. (oncotarget.com)
  • Therefore, targeting drugs molecules in the PTEN signaling pathway may be another strategy to suppress tumor cells by inhibiting tumor activity [ 7 , 8 ]. (aging-us.com)
  • Taken together, targeting Sprouties as intracellular inhibitors of the ERK pathway holds great promise for the treatment of various neurological disorders including gliomas. (springer.com)
  • Thus, while CMT1A pathogenesis is governed by dys-differentiation uncoupled from PI3K/Akt/mTOR signaling, targeting the pathway provides novel proof-of-principle for a therapeutic approach to HNPP. (biorxiv.org)
  • Cytogenic analysis and comparative genomic hybridization (CGH) studies have demonstrated that both WDLPS and DDLPS are characterized by supernumerary ring chromosomes or giant marker chromosomes and12q13-15 region amplifications, resulting in MDM2 and CDK4 overexpression. (sarcomahelp.org)
  • 10% and seems to be related to overexpression in tissue as well as to the most important prognostic factors: tumor size and nodal involvement. (degruyter.com)
  • Serial HER-2/neu determinations after surgery seem to be useful in the early diagnosis of recurrence, mainly in patients with HER-2/neu overexpression in tissue, but additional studies are necessary to confirm these results. (degruyter.com)
  • HER-2/neu sensitivity (proportion of patients with abnormal values) in patients with metastasis is around 40%-45%, with a clear relationship to tissue overexpression and to site (higher in visceral metastases) and number of metastases. (degruyter.com)
  • The expression level of NEK6 in esophagitis tissue is similar to that in esophageal adenocarcinoma, and overexpression of the NEK6 gene increases in proportion to the severity of esophagitis [ 14 ]. (hindawi.com)
  • Complementarily, a duplication on chromosome 17 results in the overexpression of PMP22 and causes Charcot-Marie-Tooth disease type 1A (CMT1A) 12 - 15 . (biorxiv.org)
  • Our gene fusion characterization workflow revealed two potential novel fusions specific for PCa. (biomedcentral.com)
  • Genetic and molecular analyses have led to the identification, cloning and characterization of a few genes that contribute to parasitic fitness in the pathogens. (sisef.it)
  • Blencowe's research team studies the mechanisms by which genes are regulated and coordinated to provide critical functions in mammalian cells. (unibas.ch)
  • This presents a starting point for studies into the underlying mechanisms of AD including interactions with other AD-associated genes, like Rho1, Ankyrin, Tau and APP with the potential to identify new targets for treatment. (sdbonline.org)
  • The study of oncogenes or suppressor genes crossing with PTEN will facilitate drug discovery and interpretation of chemotherapy resistance mechanisms. (aging-us.com)
  • Quantitative PCR and high-throughput methods, such as expressed sequence tag analysis, have been used for measuring gene expression and identifying subsets of elm genes that are differentially expressed in the presence of O. novo-ulmi . (sisef.it)
  • These analyses have also helped identify genes that were differentially expressed in DED fungi grown under defined experimental conditions. (sisef.it)
  • Our study shows that drug-resistant P. yoelii NSM has an impact on the transcript abundance levels of An.stephensi mostly at 13 days after blood meal during sporozoite migration through the hemolymph and that most differentially expressed genes were downregulated. (biomedcentral.com)
  • Our results highlight the need for a better understanding of selective pressures from these differentially expressed genes of the drug-resistant Plasmodium in the mosquito and the different transmission patterns of drug-resistant Plasmodium by Anopheles . (biomedcentral.com)
  • The ocular tissue where these tumors arise, the uvea, is a densely pigmented layer that lies for the most part between the sclera and the retina. (medscape.com)
  • The male sterilizing factors are produced by recombination of the mitochondrial genome and consist of unusual genes or open reading frames (ORFs) that usually contain a portion of functional mitochondrial genes and sequences of unknown origin ( Hanson and Bentolila, 2004 ). (frontiersin.org)
  • Promoters of genes associated with oxidative phosphorylation are preferentially remethylated at the 8-cell stage, suggesting that this mode of energy metabolism may not be favored. (nature.com)
  • To directly compare the specificity and efficacy of different Cre lines in mediating adipocyte specific recombination, transgenic Cre lines driven by the adipocyte protein 2 (aP2) and adiponectin (Adipoq) gene promoters, as well as a tamoxifen-inducible Cre driven by the aP2 gene promoter (iaP2), were bred to the Rosa26R (R26R) reporter. (diabetesjournals.org)
  • The encoded YBX2 protein binds to a Y-box element in the promoters of certain genes but also binds to mRNA transcribed from these genes. (cyagen.com)
  • citation needed] The UBE3A gene lies within the human chromosomal region 15q11-13. (wikipedia.org)
  • However, none of the prognostic models incorporates parameters reflecting the status of chromosomal rearrangements and transcriptional disorganization in a patient sample, even though gene fusions are known to drive PCa development and progression [ 8 ]. (biomedcentral.com)
  • The availability of pearl millet transcriptome and genome data helps to identify genes that contribute to stress tolerance in pearl millet. (biomedcentral.com)
  • The male sterilizing factors usually consist of unusual genes or open reading frames encoded by the mitochondrial genome. (frontiersin.org)
  • Dirk Schübeler has done important work in epigenomics and regulatory genomics, in particular with the dynamics of genome-wide methylation patterns, their role in gene regulation, and the interplay between chromatin state and the actions of transcription factors. (unibas.ch)
  • To understand the differential gene expression in Anopheles following infection with drug-resistant Plasmodium , we conducted a genome-wide transcriptomic profiling analysis of Anopheles stephensi following feeding on mice with drug-resistant or drug-sensitive P. yoelii , observed changes in gene expression profiles and identified transcripts affected by the drug-resistant parasite. (biomedcentral.com)
  • Our genome-wide analysis found 151 NAC transcription factor genes ( PgNAC s) in the pearl millet genome. (biomedcentral.com)
  • Variants in the UBR1 gene are not associated with chronic pancreatitis in Japan. (nih.gov)
  • Variants in this gene also cause a related condition called wrinkly skin syndrome, which typically has milder features. (medlineplus.gov)
  • Variants in the ATP6V0A2 gene prevent the cell from producing a functional a2 subunit, which disrupts the normal function of V-ATPases. (medlineplus.gov)
  • Several transcript variants encoding different isoforms have been found for this gene. (cancerindex.org)
  • Diagnosis is by sweat test or identification of 2 cystic fibrosis-causing gene variants in patients with a positive newborn screening test result or characteristic clinical features. (msdmanuals.com)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)
  • This complex gene codes for a complex protein important in a number of pathways. (creation.com)
  • To cope with these environmental stresses, plants activate defense responses, including the activation of sets of metabolic pathways and genes. (biomedcentral.com)
  • Treatment is supportive through aggressive multidisciplinary care along with small-molecule correctors and potentiators targeting the cystic fibrosis transmembrane conductance regulator protein defect. (msdmanuals.com)
  • The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. (cancerindex.org)
  • Our work indicates that parental origin of an epigenetic state is irrelevant as long as appropriate balanced gene expression is established and maintained at imprinted loci. (nature.com)
  • lncRNA XIST accelerates hepatic carcinoma progression by targeting the miR‑320a/PIK3CA axis, which might provide the theoretical basis for the potential targeted therapy of hepatic carcinomas. (spandidos-publications.com)
  • Until recently, however, functional analysis of the DED fungi was hampered by the lack of protocols for efficient gene knockout and by the unavailability of a full genome sequence. (sisef.it)
  • Both copies of the UBE3A gene are active in most of the body's tissues. (wikipedia.org)
  • eph dsRNA was injected into syncytial stage embryos to perturb eph expression at the larval time points relevant to axon targeting in the adult visual system. (sdbonline.org)
  • pational factors have been implicated in 9 to 15% of all cases of adult asthma. (cdc.gov)
  • This interaction promotes the polyubiquitination and subsequent degradation of the tumor suppressor gene p53, thereby enabling the immortalization of infected cells. (wikipedia.org)
  • In our study, expression of B7H3 was examined in GC tissues and explored the tumoricidal potential of B7H3-targeting CAR-T cells in GC. (biomedcentral.com)
  • In this study, we explored B7H3 expression in GC tissues and peritumor tissues, and detected the anti-tumor effects of B7H3-spetific CAR-T cells. (biomedcentral.com)
  • Yang Y, Seed B. (2003 Mar) Site-specific gene targeting in mouse embryonic stem cells with intact bacterial artificial chromosomes . (uconn.edu)
  • Dekker M, Brouwers C, Te Riele H. (2003 Mar) Targeted gene modification in mismatch-repair-deficient embryonic stem cells by single-stranded DNA oligonucleotides . (uconn.edu)
  • Contrary to expectations, a fragment containing the entire region between the TBPH gene and the bgcn translational start drove strong HEG expression only during late spermatogenesis rather than in the germline stem cells and spermatogonia as expected. (plos.org)
  • Here, variation in a gene affecting the development and movement of pigment cells, KIT , is examined. (creation.com)
  • Other genes affecting coloration are involved in pigment production or development (i.e. regulating the development and migration of pigment cells during embryogenesis). (creation.com)
  • lncRNA XIST was highly expressed in hepatic carcinoma tissues and cells. (spandidos-publications.com)
  • These findings indicate that miR-323a-3p regulates the proliferation, migration, invasion, and apoptosis of COAD cells by targeting NEK6. (hindawi.com)
  • The Adipoq-Cre exhibited no observable recombination in any other tissues examined, whereas both aP2-Cre lines resulted in recombination in endothelial cells of the heart and nonendothelial, nonmyocyte cells in the skeletal muscle. (diabetesjournals.org)
  • HOXA11-AS was highly expressed in OSCC tissues and cells. (cyagen.com)
  • One such target of these novel therapies has been the human epidermal growth factor receptor 2 ( HER2 ) gene. (degruyter.com)
  • Unique in the approach to abolishing function of this gene coded receptor, it was the first target of new monoclonal antibody therapy targeting the extracellular receptor and now also a target of small molecule drugs against the intracellular tyrosine kinase domain. (degruyter.com)
  • This complex organization of the gene reflects the complex nature of the protein receptor it produces. (creation.com)
  • Techniques for engineering HEG target specificity have recently been developed for gene therapy [3] , [4] . (plos.org)
  • Of 60 blood cultures positive for Gram-positive cocci in clusters, LAMP (via detection of the Fem A and Mec A genes) showed 100% sensitivity and specificity for identification of MRSA/MSSA. (who.int)
  • To relate the occurrence of gene fusions to Gleason Grading Groups and disease prognosis, we performed survival analyses using the Kaplan-Meier estimator, log-rank test, and Cox regression. (biomedcentral.com)
  • In the last decade, diagnostic and prognostic evaluation has been facilitated by global gene expression profiling (GEP), provid- ing a new powerful means for the classification, prediction of survival, and response to treatment of lym- phomas. (lu.se)
  • To investigate the effects of loss of β1 function in vivo , we have used gene-targeting methods to produce β1(-/-) mice, and we have analyzed their neuronal phenotypes. (jneurosci.org)
  • While imprinting perturbations are widely associated with developmental abnormalities, the intricate regional interplay between imprinted genes makes interpreting the contribution of gene dosage effects to phenotypes a challenging task. (nature.com)
  • Yet, the intricate form of epigenetic control over the parent-specific expression of multiple genes in an imprinted cluster poses difficulties when trying to decipher the relative contribution of changes in imprinted gene dosage to the resulting physiological phenotypes. (nature.com)
  • Until recently, it was unknown how sexual differences in the behavior, physiology, and development of organisms are regulated by differential gene expression. (peerj.com)
  • Because the copy of the gene inherited from a person's father (the paternal copy) is normally inactive in the brain, a mutation in the remaining maternal copy prevents any of the enzyme from being produced in the brain. (wikipedia.org)
  • A pathogenic variant was identified (c.6468_6469delTC in a BRCA2 gene mutation). (frontiersin.org)
  • 1 Some of these, such as the MC1R 2 and ASIP 3 genes, have been fairly well studied and useful information has been obtained by examining mutation patterns at these loci. (creation.com)
  • This determined how hierarchical interactions between regulatory elements orchestrate robust parent-specific expression, with implications for non-imprinted gene regulation. (nature.com)
  • Mammalian parental imprinting is a form of epigenetic regulation that causes genes to be expressed from only one chromosome homolog according to parent-of-origin 1 , 2 . (nature.com)
  • Epub 2007 Oct 15 doi: 10.1038/sj.onc.1210852. (nih.gov)
  • We selected 17 patients clinically and his- is encoded by a single gene located on the tologically proven to be suffering from PV short arm of chromosome 11 [ 6 ]. (who.int)
  • Together, this has led to the prevailing notion in the field that imprinted genes are dosage-sensitive. (nature.com)
  • Distal and proximal cis-regulatory elements sense X chromosome dosage and developmental state at the Xist locus. (axonmedchem.com)
  • Transcription factors (TFs) are critical for B-cell differentiation, affecting gene expression both by repres- sion and transcriptional activation. (lu.se)
  • However, interfering with Sprouty expression by gene therapy or siRNA treatment provides a realistic approach to evaluate the therapeutic potential of indirectly stimulating ERK activities in neurological disease. (springer.com)
  • Duplication of the gene encoding the myelin protein PMP22 causes the hereditary neuropathy Charcot-Marie-Tooth disease 1A (CMT1A), characterized by hypomyelination of medium to large caliber peripheral axons. (biorxiv.org)
  • Mammalian parental imprinting represents an exquisite form of epigenetic control regulating the parent-specific monoallelic expression of genes in clusters. (nature.com)
  • Strikingly, flipping imprinting on the parental chromosomes by crossing genotypes of complete and partial intergenic element deletions rescues the lethality of each deletion on its own. (nature.com)
  • The homing endonuclease (HEG) gene drive system is one proposed genetic strategy [2] . (plos.org)
  • Genetic analysis was carried out on the DNA extracted from the deceased patient's tumor tissue using the QiAmp DNA FFPE kit (Qiagen, Valencia, CA, USA) and following the manufacturer's instructions. (frontiersin.org)
  • Autosomal Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)
  • In particular, HEG gene drive could be particularly effective if activity was restricted to the male germline to target genes required for female fertility/viability or engineered to destroy the X-chromosome by cutting at multiple X-specific sites [5] , [6] . (plos.org)
  • CMS can be suppressed by specific nuclear genes called restorers of fertility ( Rf s). (frontiersin.org)
  • CMS can be suppressed by specific nuclear genes called restorers of fertility ( Rf ), which restore partial to normal pollen production to plants carrying a corresponding CMS-inducing cytoplasm. (frontiersin.org)