• tumor
  • For a cancer study, it is common to collect data for paired normal and tumor samples. (gwu.edu)
  • The specific function of the paired box gene 7 is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. (wikipedia.org)
  • sequence
  • The mRNA sequence of C21orf62 in humans has one known isoform. (wikipedia.org)
  • This isoform is 458 base pairs, or 104 amino acids, in length, and it is significantly shorter than the most observed sequence of C21orf62 in humans. (wikipedia.org)
  • The C21orf62 protein in humans has a sequence that is 219 amino acids in length. (wikipedia.org)
  • The primary sequence of C21orf62 in humans has a molecular weight of 24.9 kDa and an isoelectric point of 8. (wikipedia.org)
  • Table 3 shows a range of C21orf62 orthologs, their NCBI accession numbers, sequence lengths, and sequence identity to the C21orf62 human protein. (wikipedia.org)
  • On average, in DNA sequence, each human is 99.5% similar to any other human. (wikipedia.org)
  • Nearly all (>99.9%) of these sites are small differences, either single nucleotide polymorphisms or brief insertion-deletions in the genetic sequence, but structural variations account for a greater number of base-pairs than the SNPs and indels. (wikipedia.org)
  • occur
  • Alleles occur at different frequencies in different human populations, with populations that are more geographically and ancestrally remote tending to differ more, a phenomenon known as isolation-by-distance. (wikipedia.org)
  • For medicine, study of human genetic variation may be important because some disease-causing alleles occur more often in people from specific geographic regions. (wikipedia.org)
  • Population differences occur due to several causes, including random genetic drift, the influence of small migrant populations (the "founder effect"), and differences in selective pressures acting on human populations in different environments. (wikipedia.org)
  • Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. (wikipedia.org)
  • protein
  • We determined the severity and regional distribution of neuronal loss, amyloid plaques, neuritic plaques (NPs), and neurofibrillary tangles (NFTs), and calculated the ratio of neuronal loss to NPs and NFTs in brains of 19 familial AD (FAD) patients with linkage to chromosome 14, six AD patients with mutations of chromosome 21 (codon 717 of the beta-amyloid percursor protein gene), and 11 sporadic AD (SAD) patients. (umassmed.edu)
  • Duplication in Amyloid precursor protein (APP) locus (duplicated segment varies in length but includes APP) on Chromosome 21 was found to cause early onset familial Alzheimer's disease in a French family set (Rovelet-Lecrux et al. (wikipedia.org)
  • IL-21 is an important regulator of plasma cell differentiation, and it controls the master regulator of plasma cell differentiation, B lymphocyte-induced maturation protein-1 (BLIMP-1), via STAT3 and IRF4. (jimmunol.org)
  • C21orf62 is a protein that, in humans, is encoded by the C21orf62 gene. (wikipedia.org)
  • The protein structure of C21orf62 in humans consists of a combination of alpha helices and beta sheets. (wikipedia.org)
  • RUN and FYVE domain containing 2 (RUFY2) is a protein that in humans is encoded by the RUFY2 gene. (wikipedia.org)
  • 8,180 base pairs upstream of RUFY2 is the protein-coding gene for phenazine biosynthesis-like protein domain containing (PBLD). (wikipedia.org)
  • Known human disorders include Charcot-Marie-Tooth disease type 1A, which may be caused by duplication of the gene encoding peripheral myelin protein 22 (PMP22) on chromosome 17. (wikipedia.org)
  • The protein has been predicted to localize in the nucleus, and possesses a cut signal peptide at amino acid 21. (wikipedia.org)
  • Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene. (wikipedia.org)
  • In squamous cell carcinoma, a protein from the epidermal growth factor receptor (EGFR) gene is often overexpressed in conjunction with polysomy of chromosome 7, so chromosome 7 can be used to predict the presence of EGFR in squamous cell carcinoma. (wikipedia.org)
  • FAM227A is a protein that in humans is encoded by FAM227A gene. (wikipedia.org)
  • Proline-rich protein 21 (PRR21) is a protein of the family of proline-rich proteins. (wikipedia.org)
  • The NDUFB10 protein weighs 21 kDa and is composed of 172 amino acids. (wikipedia.org)
  • Molecular
  • Human Molecular Genetics. (wikipedia.org)
  • We explored the molecular basis for this repression and identify primary miR-21 transcription as a direct target of BLIMP-1-dependent repression, despite continued STAT3 activation and phospho-STAT3 binding to the primary miR-21 promoter. (jimmunol.org)
  • The presence of the Philadelphia chromosome can help predict how the cancer will progress and provides a target for molecular therapies. (wikipedia.org)
  • 2016
  • Retrieved 2016-05-21. (wikipedia.org)
  • In 2016, a study performed an association analysis on chromosome 22 at 31203 markers in order to determine if high blood pressure and smoking were correlated. (wikipedia.org)
  • mRNA
  • Thus, STAT3 and BLIMP-1 constitute an incoherent feed-forward loop downstream of IL-21 that can coordinate microRNA with mRNA expression during plasma cell differentiation. (jimmunol.org)
  • The gene produces a 2,080 base pair mRNA. (wikipedia.org)
  • It encodes a 3182 base pair mRNA which possesses one Pleckstrin homology-like domain. (wikipedia.org)
  • disruption
  • An earlier RNAi screen in 2007 showed the disruption of Topoisomerase II activity impairs somatic pairing within Drosophila tissue culture, indicating a role for topoisomerase-mediated organisation (or the direct interactions of topoisomerase enzymes) in pairing. (wikipedia.org)
  • downstream
  • miR-21 is the most frequently deregulated microRNA in malignancy, including B cell lymphomas, and it has oncogenic potential downstream of STAT3. (jimmunol.org)
  • While 6,770 base pairs downstream from RUFY2 is a DNA2 conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. (wikipedia.org)