Loading...
  • 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)
  • protein
  • 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)
  • 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)
  • C21orf62 is a protein that, in humans, is encoded by the C21orf62 gene. (wikipedia.org)
  • The C21orf62 protein in humans has a sequence that is 219 amino acids in length. (wikipedia.org)
  • The protein structure of C21orf62 in humans consists of a combination of alpha helices and beta sheets. (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)
  • 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)
  • Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene. (wikipedia.org)
  • The protein has been predicted to localize in the nucleus, and possesses a cut signal peptide at amino acid 21. (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)
  • Proline-rich protein 21 (PRR21) is a protein of the family of proline-rich proteins. (wikipedia.org)
  • FAM227A is a protein that in humans is encoded by FAM227A gene. (wikipedia.org)
  • The NDUFB10 protein weighs 21 kDa and is composed of 172 amino acids. (wikipedia.org)
  • Molecular
  • The presence of the Philadelphia chromosome can help predict how the cancer will progress and provides a target for molecular therapies. (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)
  • Deletions
  • 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)
  • When the chromosome's structure is altered, this can take several forms: Deletions: A portion of the chromosome is missing or deleted. (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)