• Introns are excised once the sequence is transcribed to mRNA, leaving only exons to code for proteins. (jove.com)
  • Then I tried to download directly Exon sequences, but the number of sequences was again larger the the number of exons should be and moreover several exon ids correspond to the same sequence. (biostars.org)
  • In dystrophin-deficient mice we find that co-injection of an exon skipping PMO with miR-146a but not a control sequence reduces the extent of dystrophin positive fibers. (gene-tools.com)
  • Although the transcript identity between mouse and human orthologous transcripts were high (greater than 80% sequence identity), the exon order in these gene-pairs may be different between mouse and human orthologous genes. (uwc.ac.za)
  • We will also sequence any single exon (Test #100) in family members of patients with a known variant or to confirm research results. (preventiongenetics.com)
  • PCR was carried out in order to amplify the 471 bp fragment of the exon 3 coding sequence of the leptin gene. (arccjournals.com)
  • A primer pair was designed and synthesized for the exon 1 sequence of the NOEY2 gene. (ac.ir)
  • Methods: One hundred and twenty-seven consecutive NPC patients and 112 randomly selected normal controls residing in southern China mainland were analyzed for MICA-STR allelic variation and MICA gene deletion by fluorescent polymerase chain reaction-genescanning and polymerase chain reaction-sequence specific priming. (cmich.edu)
  • The human gastric (H + + K + )-ATPase gene (15 kilobases) was cloned, and its nucleotide sequence was determined. (elsevierpure.com)
  • However, the 5'-flanking regions of the genes for (H + + K + )-ATPase and the (Na + + K + )-ATPase α(+) subunit show no apparent sequence homology, indicating that their transcriptions are regulated differently. (elsevierpure.com)
  • The control region of the fast-twitch sarcoplasmic reticulum Ca 2+ -ATPase gene also showed no sequence homology to that of (H + + K + )-ATPase. (elsevierpure.com)
  • There are two polyadenylation signals in the 3'-flanking region of the (H + + K + )-ATPase gene, but the sequence of this region shows no homology to those of the corresponding regions of the genes for the (Na + + K + )-ATPase α and αIII subunits. (elsevierpure.com)
  • This document describes some of the target genes and primers that can be used for DNA sequence-based identification of fungi and the PCR conditions with which to use those primers. (cdc.gov)
  • In BASE, reporters also refer to Affymetrix Probeset ID but reporters can be used to describe genes, transcripts, exons or any other sequence entity of biological relevance. (lu.se)
  • Sequence variations in a number of genes for DNA repair in occupational toxicology for a more accurate risk and phase I/phase II metabolising enzymes have recently assessment of groups of workers. (cdc.gov)
  • To the our best of knowledge, this is the first study to report the existence of homozygous and heterozygous mutations at positions 554, 555 and 559 in exon 4 of SLC35A3 gene in Indian Holstein cattle. (researchgate.net)
  • Duchenne muscular dystrophy (DMD) is a progressive muscle disease caused by loss of function mutations in the Dystrophin gene resulting in loss of dystrophin protein. (gene-tools.com)
  • Using a positional candidate approach, we identified thirteen different heterozygous, germline, inactivating mutations in a single gene in fourteen families with HPT-JT. (nih.gov)
  • The proposed role of HRPT2 as a tumor suppressor was supported by mutation screening in 48 parathyroid adenomas with cystic features, which identified three somatic inactivating mutations, all located in exon 1. (nih.gov)
  • Multiple gastrointestinal stromal tumors (GISTs) caused by germline c-kit gene mutations are an extremely rare autosomal dominant disorder. (elsevierpure.com)
  • Mutations in ras genes can cause permanent activation of ras proteins. (medscape.com)
  • The NF1 phenotype results from loss-of-function mutations of the NF1 gene and, therefore, the absence of neurofibromin 1. (medscape.com)
  • Mutations that have been observed in the NF1 gene include stop mutations, amino acid substitutions, insertions, deletions (partial or whole), and gross chromosomal rearrangements. (medscape.com)
  • Of the 16 genes sequenced, 2 had a crossover between PRB1 and PRB2 and 4 had stop mutations. (umich.edu)
  • Because most known mutations that cause disease occur in exons, whole exome sequencing is thought to be an efficient method to identify possible disease-causing mutations. (medlineplus.gov)
  • Mutations can occur in any area of the gene. (medscape.com)
  • Murine gene mutations in human counterparts may be associated with a clinical illness different from the illness seen in mice. (medscape.com)
  • Mutation analysis of the TBCE gene of this syndrome was shown to be due to Polymerase chain reaction/single-strand mutations in the TBCE gene in chromosom- conformation polymorphism analysis and al area 1q42-q43 [ 4,5 ]. (who.int)
  • In Kuwait, no precise data are the only exons where mutations have been available, although some reports have been previously reported [ 5 ]. (who.int)
  • The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene. (cdc.gov)
  • 20 000 protein coding genes (Parsons mutations. (who.int)
  • More than 99% of individuals with achondroplasia have one of two variants in exon 10 of the FGFR3 gene. (preventiongenetics.com)
  • This includes whole transcriptome gene expression for almost 30 different species, Exon microarrays to analyze splicing variants and gene expression microarrays with comprehensive content, including full LNCipedia databases to provide full coverage of the transcriptome in a single experiment. (agilent.com)
  • Common allelic variants of exons 10, 12, and 33 of the thyroglobulin gene are not associated with autoimmune thyroid disease in the United Kingdom. (ox.ac.uk)
  • At this stage, we cannot exclude the Tg region as harboring a susceptibility locus for AITD, and only large scale sequencing and fine mapping of the region, including neighboring genes, will allow us to identify any potential causal variants within this region. (ox.ac.uk)
  • Subsequent screening for structural variants in candidate genes located in the same regions identified a homozygous deletion that includes exons 17 to 23 of the integrin beta 4 ( ITGB4 ), a gene that was previously associated with the same defect in humans. (biomedcentral.com)
  • Over 1000 pathogenic allelic variants of the gene have been identified. (medscape.com)
  • Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing. (bvsalud.org)
  • Importantly, between these beginning and end points lie areas called introns and exons, both of which are reflected in the RNA product. (jove.com)
  • Since this RNA will be used to generate proteins, exons are denoted as coding regions, whereas introns are another example of non-coding material. (jove.com)
  • Among them a promoter, exons, introns, and regulatory elements, which together help to determine protein expression in a cell. (jove.com)
  • Genes themselves consist of protein-coding exons and non-coding introns. (jove.com)
  • Longer "nonsense" DNA, known as introns, flank the exons. (livescience.com)
  • but the first introns of the two enzymes are difficult to align, and unlike in the (Na + + K + )-ATPase gene, the sixth exon in the (H + + K + )-ATPase gene is not separated by an intron. (elsevierpure.com)
  • These primers amplify approximately 495 bp of exons and introns at the 5' end of the β-tubulin gene. (cdc.gov)
  • Recent improvements in mouse genome sequencing have permitted the current study to explore the occurrence of exon skipping in mouse genes orthologous to human genes on chromosome 22. (uwc.ac.za)
  • Comparison of our mouse exon-skipping events to previously detected human exon-skipping events on chromosome 22 by Hide et al.2001, has revealed that mouse and human exon-skipping events were never observed together within an orthologous gene-pair. (uwc.ac.za)
  • The low frequency of mouse exon skipping on chromosome 22 cannot be extrapolated to represent a genome-wide estimate due to the small number of observed mouse exon-skipping events. (uwc.ac.za)
  • However, when compared to a higher estimate (52/347) of exon skipping in human genes for chromosome 22 produced under similar conditions by Hide et al.2001, it is possible that our mouse exon-skipping frequency may be lower than the human frequency. (uwc.ac.za)
  • However, the mouse exon-skipping frequency may represent the highest estimate that can be obtained given that the current number (87) of mouse genes orthologous to chromosome 22 in Ensembl (v1 30th Jan. 2002) does not deviate significantly from our total number (72) of mouse multi-exon genes. (uwc.ac.za)
  • The Tg gene (Tg) has been mapped to chromosome 8q24, which has recently been linked in two independent studies to AITD. (ox.ac.uk)
  • The NF1 gene is cytogenetically located on the long (q) arm of chromosome 17, at band 11.2 (17q11.2). (medscape.com)
  • We found that scavenger receptor class A member 5( SCARA5 ), located on chromosome 8p21.1, is the downstream driving gene of THSD7A in ESCC [ 5 ]. (hindawi.com)
  • Twenty-two of the pairs, chromosome numbers 1 to 22, the autosomes, are normally homologous (identical in size, shape, and position and number of genes). (msdmanuals.com)
  • the smaller Y chromosome carries genes that initiate male sex differentiation, as well as a few other genes. (msdmanuals.com)
  • The genes that occupy the same locus on each chromosome of a pair (one inherited from the mother and one from the father) are called alleles. (msdmanuals.com)
  • A chromosome contains many genes. (msdmanuals.com)
  • The NKX2-5 gene on chromosome 5q34 consists of two exons which encode a 324 amino acid protein. (cdc.gov)
  • Dispersed between the chromosomes are over 20,000 genes, sometimes separated by vast stretches of non-coding DNA, or that which does not encode proteins. (jove.com)
  • In eukaryotic genomes, genes are separated by large stretches of DNA that do not code for proteins. (jove.com)
  • Although HMG proteins do not possess intrinsic transcriptional activity, they are called architectural transcription factors because they modulate the transcription of their target genes by altering the chromatin structure at the promoter and/or enhancers 15 . (nature.com)
  • A cascade effect occurs when ras -GTPase is "switched on" by incoming signals, leading to activation of other proteins, which, in turn, activate genes responsible for cell growth and differentiation. (medscape.com)
  • Genes control everything from hair color to blood sugar by telling cells which proteins to make, how much, when, and where. (livescience.com)
  • The similarity in organization of these two ATPase genes and the homology in the primary structures of their proteins (~60%) suggest that these two genes were derived from a common ancestral gene. (elsevierpure.com)
  • Allelic polymorphism of exon 3 of leptin gene in Nilagiri sheep identified by sequencing and PCR-RFLP. (arccjournals.com)
  • Objective: To explore the association between the short tandem repeat polymorphism of exon 5 of MICA gene(MICA-STR) and nasopharyngeal carcinoma (NPC) in a southern Chinese population. (cmich.edu)
  • To test the hypothesis that miR-146a is inhibitory to exon skipping dystrophin restoration, we generated a novel DMD double knockout mouse model with body-wide miR-146a deletion ( 146aX mice) and administered an exon 51 skipping PMO into the tibialis anterior (TA) muscles of mdx52 and 146aX mice. (gene-tools.com)
  • These data demonstrate genetic deletion of miR-146a is sufficient to increase dystrophin rescue via exon skipping. (gene-tools.com)
  • Neurofibromatosis type 1 (NF1), also known as peripheral neurofibromatosis or von Recklinghausen disease, is an autosomal dominant genetic condition caused by a mutation in or a deletion of the NF1 gene. (medscape.com)
  • [ 1 ] Patients with NF1 who have a whole NF1 gene deletion (about 4-5% of individuals with NF1) appear to develop a more severe phenotype than do patients with a partial gene deletion. (medscape.com)
  • All affected persons had homozygous deletion of 12 bp (155-166del) in exon 3 of the TBCE gene. (who.int)
  • The present study aimed at detecting the association of ovine major histocompatibility complex class II (Ovar II) DRB 1 gene second exon and susceptibility or resistance to hydatidosis in three sheep breeds of Sinkiang. (parasite-journal.org)
  • CAMTAs participate in gene expression regulation by binding to the cis -elements in the promoter regions of numerous target genes. (frontiersin.org)
  • The expression level of target genes was examined by PCR, western blot, and immunohistochemistry (IHC). (hindawi.com)
  • The effects of these target genes on ESCC malignant biological behavior were performed in vivo and in vitro . (hindawi.com)
  • The Kaplan-Meier (K-M) survival analysis and Cox regression were used to analyze the prognostic significance of target genes in ESCC patients. (hindawi.com)
  • We further explored the cancer-promoting mechanism of target genes in ESCC by sequencing of the genes' exons. (hindawi.com)
  • However, whether there are functional target genes downstream of THSD7A in ESCC has not been reported. (hindawi.com)
  • It is caused by a point mutation (G→T) at nucleotide position 559 of the gene, bovine solute carrier family 35 member 3 (SLC35A3). (researchgate.net)
  • A new mutation in the coding region of the bovine leptin gene associated with feed intake. (arccjournals.com)
  • Mutational analysis of the c-kit gene revealed a substitution at codon 642 in exon 13 (K642T) in the tumor, normal ileal mucosa and peripheral blood leukocytes, indicating that the mutation is in the germline. (elsevierpure.com)
  • This is the first case of multiple GISTs with novel germline c-kit gene mutation at exon 13. (elsevierpure.com)
  • The NF1 gene locus has a higher spontaneous mutation rate than do most gene loci. (medscape.com)
  • The NF1 phenotype is highly penetrant (ie, almost all individuals with an NF1 gene mutation have some phenotypic traits of the syndrome). (medscape.com)
  • The patient has a mutation on exon 15, A504T, which changed an asparagine residue to a valine residue. (medscape.com)
  • Gene structure analysis indicated that the maximum number of genes were intron-less and remained conserved during evolution. (nature.com)
  • A, 76 nucleotides farther from exon 1 and in the intron region of NOEY2 gene. (ac.ir)
  • A low number (5/72 multi-exon genes) of mouse exon-skipped genes were captured through alignments of mouse ESTs to mouse genomic contigs. (uwc.ac.za)
  • Main factors contributing towards the low detection of mouse exon-skipping events include the lack of mouse transcripts matching to mouse genomic sequences and the under-prediction of mouse exons. (uwc.ac.za)
  • These factors resulted in a large number (112/269) of mouse transcripts lacking matches to mouse genomic contigs and nearly half (12/25) of the mouse multi-exon genes, which have matching Ensembl transcript identifiers, have under-predicted exons. (uwc.ac.za)
  • The capture of mouse exon-skipping events may increase as the quality and quantity of mouse genomic and transcript sequences improves. (uwc.ac.za)
  • This test involves bidirectional sequencing of the target coding exon (exon 10) of the FGFR3 gene using genomic DNA. (preventiongenetics.com)
  • 88952 FT /mol_type="genomic DNA" FT /db_xref="Ensembl:ENSG00000113522" FT /organism="Homo sapiens" FT gene 987. (lu.se)
  • Detection of polymorphisms in the ovine leptin (LEP) gene: Association of a single nucleotide polymorphism with muscle growth and meat quality traits. (arccjournals.com)
  • Resequencing of the Tg exons has led to the identification of a number of novel single nucleotide polymorphisms, four of which have been reported to be associated with AITD. (ox.ac.uk)
  • Resequencing of Tg in Caucasian subjects in the United Kingdom (UK) has confirmed the presence of four single nucleotide polymorphisms in exons 10, 12, and 33. (ox.ac.uk)
  • Attenuated huntingtin gene CAG nucleotide repeat size in individuals with Lynch syndrome. (lu.se)
  • Gene sequences from normal and carrier animals were compared using the software, codon code Aligner 4.0.4. (researchgate.net)
  • I want to download the sequences of all the exons for each human gene. (biostars.org)
  • The issue you have with more sequences and exons is most likely due to alternative transcripts. (biostars.org)
  • Trans-Spliced Exon Coupled RNA End Determination (TEC-RED) is a transcriptomic technique that, like SAGE, allows for the digital detection of messenger RNA sequences. (wikipedia.org)
  • Spliced leader sequences are short sequences of non coding RNA, not found within a gene itself, that are attached to the 5' end of all, or a portion of, mRNAs transcribed in an organism. (wikipedia.org)
  • This prevents bias associated with restriction site sequences that will be missing from some genes, as is seen in SAGE. (wikipedia.org)
  • Most OR genes have been predicted in silico and are typically annotated as intronless coding sequences. (cam.ac.uk)
  • We found that 13 human and 41 mouse OR loci have coding sequences that are split across two exons. (cam.ac.uk)
  • Genes also include regulatory sequences. (livescience.com)
  • Although scientists don't fully understand their function, regulatory sequences help turn genes on. (livescience.com)
  • The 5'-flanking region of the (H + + K + )-ATPase gene contains potential binding sites for RNA polymerase II and various transcriptional regulation factors and several direct and inverted repeat sequences which may be important for specific and controlled expression of the gene in gastric parietal cells. (elsevierpure.com)
  • Because longer genes encode longer BPRPs, we investigated the possibility of exon sequencing BPRP alleles encoded by PRB1 and PRB2. (umich.edu)
  • The BTK gene is large and consists of 19 exons that encode the 659 amino acids that form the Btk cytosolic tyrosine kinase. (medscape.com)
  • We have defined the non-coding regions of many OR genes, enabling us to generate full-length transcript models. (cam.ac.uk)
  • Sanger sequencing of the patient's cDNA after nested polymerase chain reaction showed that the patient had both a normal transcript containing exons 1-4 and a defect transcript lacking exon 2. (lu.se)
  • Genes are contained in chromosomes in the cell nucleus and mitochondria. (msdmanuals.com)
  • The 23rd pair, the sex chromosomes (X and Y), determines a person's sex as well as containing other functional genes. (msdmanuals.com)
  • Genes are arranged linearly along the DNA of chromosomes. (msdmanuals.com)
  • Each gene has a specific location (locus), which is typically the same on each of the 2 homologous chromosomes. (msdmanuals.com)
  • Some genes occur in multiple copies that may be next to each other or in different locations in the same or different chromosomes. (msdmanuals.com)
  • These primers amplify approximately 717 bp of the coding region of the EF-1α gene. (cdc.gov)
  • Development of primer sets designed for use with the PCR to amplify conserved genes from filamentous ascomycetes. (cdc.gov)
  • Using Oligo software, Kuwait identified as KCS type 1 showed version 3.4, 3 polymerase chain reaction that they fulfilled the criteria for SSS, and (PCR) primer sets to amplify exons 2, 3, and might be considered as such. (who.int)
  • Over time U-triangle developed on polyploidization of Brassica 's proved its usefulness in studying the evolution of various genes and phenotypes 3 . (nature.com)
  • Additionally, it can knock out genes, facilitating efforts to elucidate gene functions through the analysis of mutant phenotypes. (mdpi.com)
  • Allelic polymorphism of Makoei sheep leptin gene identified by polymerase chain reaction and single strand conformation polymorphism. (arccjournals.com)
  • Fu, P & Evans, B 1992, ' A novel PCR method for amplifying exons (or genes) over intragenic (or intergenic) regions in the genome ', Nucleic Acids Research , vol. 20, no. 11. (monash.edu)
  • The comparative genome-wide analysis and mode of evolution of KCS and ELO gene families have not been investigated in tetraploid Brassica carinata and its diploid progenitors. (nature.com)
  • BACKGROUND:Olfactory receptor (OR) genes are the largest multi-gene family in the mammalian genome, with 874 in human and 1483 loci in mouse (including pseudogenes). (cam.ac.uk)
  • In this study, we first identified all the CAMTA homologous genes in the whole genome of maize. (frontiersin.org)
  • An examination revealed the presence of two serpin genes, each coding for two or three likely alternative reactive centre exon cassettes, respectively, also in the Caenorhabditis elegans genome, The occurrence of such serpin genes in some groups of metazoa reflects a parsimonious way to enlarge the adaptive ability of these organisms to cope with a plethora of different serine and cysteine proteases. (uni-bielefeld.de)
  • The number of genes in an organism's complete set of DNA, called a genome, varies from species to species. (livescience.com)
  • These pieces, called exons, are thought to make up 1 percent of a person's genome. (medlineplus.gov)
  • Together, all the exons in a genome are known as the exome, and the method of sequencing them is known as whole exome sequencing. (medlineplus.gov)
  • While many more genetic changes can be identified with whole exome and whole genome sequencing than with select gene sequencing, the significance of much of this information is unknown. (medlineplus.gov)
  • GeneReviews compares whole genome sequencing, whole exome sequencing, and the sequencing of a selection of individual genes , particularly their use in the diagnosis of genetic conditions. (medlineplus.gov)
  • The pod color gene has green and yellow versions, or alleles. (livescience.com)
  • A 133 bp fragment, spanning exon 11 of the APC gene was amplified, and Rsal digestion of the PCR product defined the alleles as either homozygous 133 bp (Rsa(-/-)) or 87 and 46 bp (Rsa(+/+)) fragments, and heterozygous (Rsa(+/-)) exhibiting the three fragments. (who.int)
  • Scientists estimate that humans have around 25,000 genes. (livescience.com)
  • Humans have about 20,000 to 23,000 genes depending on how a gene is defined. (msdmanuals.com)
  • Therefore, it is important to explore candidate genes that could have significance to the clinical diagnosis, as well as the treatment of esophageal squamous cell carcinoma (ESCC) at the molecular level [ 4 ]. (hindawi.com)
  • Key to the organization of an individual gene is its promoter, to which machinery, especially RNA polymerase, can attach. (jove.com)
  • We adopted quantitative reverse-transcription polymerase chain reaction (qRT-PCR) and Celigo high-content screening (HCS) technology to screen the downstream genes of THSD7A . (hindawi.com)
  • After gene amplification by polymerase chain reaction (PCR) and evaluation of band quality, Sanger sequencing was performed on PCR products. (ac.ir)
  • The MHC- DRB 1 second exon was amplified by polymerase chain reaction (PCR) from DNA samples of healthy sheep and sheep with hydatidosis. (parasite-journal.org)
  • They have been found in several species to be responsible for separating polycistronic transcripts into single gene mRNAs, and in others to splice onto monocistronic transcripts. (wikipedia.org)
  • The mutually exclusive use of these cassettes in combination with alternatively selectable exons at the 5'-end or in the 3'-untransiated region of the gene allows generation of more than ten different transcripts, all of which are expressed in Drosophila embryos. (uni-bielefeld.de)
  • Reporters are used to represent genes, transcripts, exons and therefore come in their thousands. (lu.se)
  • Examination of human tau mRNA indicates that the human cerebrocortical splicing pattern differs from that previously reported for the murine and bovine tau mRNAs, despite conserved exon organization in all three genes. (nih.gov)
  • Current DMD therapeutics use phosphorordiamidate morpholino oligomers (PMO) to skip over the frame-shifting exon during the splicing of the dystrophin pre-mRNA, resulting in translation of a truncated dystrophin protein product. (gene-tools.com)
  • Exon 8 of the mouse α 6 subunit gene was disrupted by homologous recombination. (jneurosci.org)
  • Yasri S, Wiwanitkit V. Exons 1 and 10 Polymorphisms of LHCGR Gene and IVF Success. (jri.ir)
  • Dear Editor, We read the publication on "Evaluation of the Prevalence of Exons 1 and 10 Polymorphisms of LHCGR Gene and Its Relationship with IVF Suc-cess" with a great interest (1). (jri.ir)
  • Basically, the polymorphisms of LHCGR gene result in molecular structure change and it can further affect phenotypic expression. (jri.ir)
  • It is hard to verify the observed effects of exons 1 and 10 polymorphisms of LHCGR gene in the present report by Javadi-Arjmand et al. (jri.ir)
  • Evaluation of the prevalence of exons 1 and 10 polymorphisms of LHCGR gene and its relationship with IVF success. (jri.ir)
  • The relationship of GH and LEP gene polymorphisms with fat -tail measurements (Fat-tail dimensions) in fat-tailed Makooei breed of Iranian sheep. (arccjournals.com)
  • Leptin gene polymorphisms and their phenotypic associations, Vitamin Hormone 71: 373-404. (arccjournals.com)
  • This study aimed to investigate the possible association between exon 1 polymorphisms of the NOEY2 gene in women with PCOS and diabetes. (ac.ir)
  • ABSTRACT Factor VII gene polymorphisms may contribute to elevations in factor VII coagulant (FVIIc) levels that have been associated with cardiovascular risk. (who.int)
  • The impor- objectives of determining the frequencies tance of FVII in normal haemostasis is il- of these gene polymorphisms in the popula- lustrated by the severe bleeding diathesis tion and clarifying the genotype association associated with low plasma levels of the of the R353Q and 0/10 bp insertion poly- protein [ 3 ]. (who.int)
  • Analysis on associations of SNPs of leptin gene with growth traits in four sheep breeds. (arccjournals.com)
  • Full of information, genes pass similar traits from one generation to the next. (livescience.com)
  • As a result, silencers help to regulate gene expression. (jove.com)
  • However, these intergenic regions carry important elements that regulate gene activity, for instance, the promoter where transcription starts, and enhancers and silencers that fine-tune gene expression. (jove.com)
  • All mouse, skipped exons were observed to have ubiquitous tissue expression. (uwc.ac.za)
  • The expression analysis of both gene family members reflect their preferential seed-specific expression, especially during the mature embryo development stage. (nature.com)
  • Discover our large selection of Gene Expression & Exon Microarrays. (agilent.com)
  • The results showed that nine ZmCAMTA genes showed highly diversified gene structures and tissue-specific expression patterns. (frontiersin.org)
  • Many ZmCAMTA genes displayed high expression levels in the roots. (frontiersin.org)
  • Notably, a large number of stress-related elements present in the promoter regions of some ZmCAMTA genes, indicating a genetic basis of stress expression regulation of these genes. (frontiersin.org)
  • Quantitative real-time PCR was used to test the expression of ZmCAMTA genes under several abiotic stresses (drought, salt, and cold), various stress-related hormones [abscisic acid, auxin, salicylic acid (SA), and jasmonic acid] and biotic stress [rice black-streaked dwarf virus (RBSDV) infection]. (frontiersin.org)
  • Furthermore, the expression pattern of ZmCAMTA genes under RBSDV infection was analyzed to investigate their potential roles in responses of different maize cultivated varieties to RBSDV. (frontiersin.org)
  • The expression of most ZmCAMTA genes responded to both abiotic and biotic stresses. (frontiersin.org)
  • Autosomal dominant genetic transmission indicates that one copy of the altered gene is required for phenotypic expression. (medscape.com)
  • Biochemistry and biology of ARHI (DIRAS3), an imprinted tumor suppressor gene whose expression is lost in ovarian and breast cancers. (ac.ir)
  • How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? (lu.se)
  • Microarray profiling of hypothalamic gene expression changes in Huntington's disease mouse models. (lu.se)
  • We report here the identification of a gene associated with the hyperparathyroidism-jaw tumor (HPT-JT) syndrome. (nih.gov)
  • Our findings suggest that HRPT2 is a tumor-suppressor gene, the inactivation of which is directly involved in predisposition to HPT-JT and in development of some sporadic parathyroid tumors. (nih.gov)
  • in both conditions, however, the altered gene products have an important role in the dysregulation of tumor suppression. (medscape.com)
  • Tumor-related studies have shown the clinical application and research prospects of this gene, suggesting that it might play the important role in the treatment of tumors. (hindawi.com)
  • NOEY2 (ARHI), an imprinted putative tumor suppressor gene in ovarian and breast carcinomas. (ac.ir)
  • The tumor-suppressor gene ARHI (DIRAS3) suppresses ovarian cancer cell migration through inhibition of the Stat3 and FAK/Rho signaling pathways. (ac.ir)
  • The tumor suppressor gene ARHI regulates autophagy and tumor dormancy in human ovarian cancer cells. (ac.ir)
  • AIM OF THE STUDY: To evaluate the polymorphism and prevalence of loss of heterozygosity (LOH) of APC tumor suppressor gene in mataplasia, dysplasia and adenocarcinoma. (who.int)
  • MATERIAL AND METHODS: In esophageal mucosal samples of 79 patients with: GERD (n=33), BE (n=27), BE+dysplasia (n=8) and ADC (n=11) we have studied LOH of APC tumor suppressor gene using PCR-restriction fragment length polymorphism (RFLP). (who.int)
  • Thus, a gene consists of various components. (jove.com)
  • One other amino acid substitution (p.Gly375Cys) encoded within FGFR3 exon 10 has also been reported to cause this condition (Ikegawa et al. (preventiongenetics.com)
  • This disorder is now formally referred to as X-linked agammaglobulinemia (XLA), and the gene defect has been mapped to the gene that codes for Bruton tyrosine kinase (Btk) at band Xq21.3. (medscape.com)
  • Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (nih.gov)
  • The aim of the study was to screen the downstream functional genes of THSD7A and explore their functions in ESCC, based on the reported research into THSD7A function and on gene microarrays. (hindawi.com)
  • A gene, the basic unit of heredity, is a segment of DNA containing all the information necessary to synthesize a polypeptide (protein) or a functional RNA molecule. (msdmanuals.com)
  • Ensembl gtf annotations do include an "gene_id" attribute. (biostars.org)
  • This is a Gene codon correction at the defective DNA level. (nba24x7.com)
  • Nous avons donc étudié l'association de deux polymorphismes - R353Q au niveau du codon 353 intervenant sur la région catalytique et le polymorphisme d'insertion de 10 paires de bases (pb) impliquant la région du promoteur - avec les taux de FVIIc chez 176 Tunisiens en bonne santé. (who.int)
  • Given the highly penetrant nature of NF1, individuals who have an altered NF1 gene will eventually present with some clinical feature of this neurocutaneous syndrome and are at an increased risk of developing benign and/or malignant tumors. (medscape.com)
  • Experiments in the literature on liver cancer (LC) were repeated to verify the functions of these genes in different tumors. (hindawi.com)
  • Our findings suggested that it was a potentially diagnostic individualized therapeutic target for ESCC in the future and that its application could possibly be combined with that of upstream THSD7A gene. (hindawi.com)
  • The restriction analysis and partial sequencing of the gene shows that it contains (1) four alternatively spliced exons previously described in rodent and bovine but not in human tau cDNAs and (2) two CpG islands, one associated with the promoter region, the other with exon 9. (nih.gov)
  • Along with the complex arrangement of genetic material in a cell's nucleus, human genes also demonstrate their own unique organization. (jove.com)
  • The FGFR3 gene encodes fibroblast growth factor receptor-3, a member of the FGFR family. (preventiongenetics.com)
  • These characteristics have made the annotation of the complete OR gene repertoire a complex task. (cam.ac.uk)
  • By combining evidence from structural features, evolutionary conservation and experimental data, we have unified the annotation of these gene families, and have systematically determined the protein-coding potential of each locus. (cam.ac.uk)
  • The complete annotation has been integrated into the GENCODE reference gene set, for immediate availability to the research community. (cam.ac.uk)
  • Here we report a silent variant found in exon 2 in the F8 gene in a 47-year-old patient with a previous von Willebrand disease (VWD) type 1 diagnosis. (lu.se)
  • Expert curation of the human and mouse olfactory receptor gene repertoires identifies conserved coding regions split across two exons. (cam.ac.uk)
  • String-based protein-protein interaction analysis suggested that bZIP53, a transcription factor might be involved in the activation of transcription of ELO / KCS genes. (nature.com)
  • For example, cerebellar granule cells express six subunit genes abundantly (α 1 , α 6 , β 2 , β 3 , γ 2 , and δ), and so they probably have several distinct GABA A receptor subtypes of unknown subunit stoichiometry. (jneurosci.org)
  • A strand of DNA is comprised of genes and intergenic regions. (jove.com)
  • Among genetic factors, polymor-phisms in some particular genes such as FSH receptor, estrogen, LH receptor gene, etc. are im-portant in infertile women undergoing IVF. (jri.ir)
  • However, researchers have found that DNA variations outside the exons can affect gene activity and protein production and lead to genetic disorders--variations that whole exome sequencing would miss. (medlineplus.gov)
  • RESULTS:Here we have developed an expert curation pipeline to analyse and annotate every OR gene in the human and mouse reference genomes. (cam.ac.uk)
  • The aim of the present study was to find out an allelic variation in leptin gene of Malpura sheep. (arccjournals.com)
  • Methods: All exons of PRB1 and PRB2 from 8 healthy adults were sequenced using an Illumina HiSeq 2000 (100 bp paired sequencing readouts with TruSeq™ Exome Enrichment Kit). (umich.edu)
  • Methods: We assessed DNA methylation at three CpG sites in the NOS2 exon 1 from blood from 201 welders. (cdc.gov)
  • The presence of biotic and abiotic stress-related cis-regulatory elements in the promoter region suggests that both KCS and ELO genes might also play their role in stress tolerance. (nature.com)
  • Several alternative splicing surveys have confirmed the frequent occurrence of exon skipping in human genes. (uwc.ac.za)
  • However, the occurrence of exon skipping in mouse genes has not yet been extensively examined. (uwc.ac.za)
  • CONCLUSIONS: APC gene inactivation concerns minority of patients with esophageal adenocarcinoma, however, its detection indicates higher risk of progression to ADC. (who.int)
  • CONCLUSIONS:This work provides the most comprehensive curation effort of the human and mouse OR gene repertoires to date. (cam.ac.uk)
  • The human tau gene has been cloned and mapped. (nih.gov)
  • Our conclusion that the mouse exon-skipping frequency may be lower than the human estimate remains to be tested with a larger mouse multi-exon gene set. (uwc.ac.za)
  • SimpleChIP ® Human DNAJB9 Exon 1 Primers were tested on DNA isolated from cross-linked cells using the SimpleChIP ® Plus Enzymatic Chromatin IP Kit (Magnetic Beads) #9005. (cellsignal.com)
  • PCR product melting curves were obtained for real-time PCR reactions performed using SimpleChIP ® Human DNAJB9 Exon 1 Primers. (cellsignal.com)
  • SimpleChIP ® Human DNAJB9 Exon 1 Primers contain a mix of forward and reverse PCR primers that are specific to exon 1 of the human DnaJ homolog subfamily B member 9 gene. (cellsignal.com)
  • CRISPR/Cas9-mediated Knockout of the Neuropsychiatric Risk Gene KCTD13 Causes Developmental Deficits in Human Cortical Neurons Derived from Induced Pluripotent Stem Cells. (nih.gov)
  • Human gastric (H+ + K+)-ATPase gene. (elsevierpure.com)
  • Human gastric (H + + K + )-ATPase gene. (elsevierpure.com)
  • Dive into the research topics of 'Human gastric (H + + K + )-ATPase gene. (elsevierpure.com)