Loading...
  • NCBI
  • Approximate size and transcripts of NEK10 (chromosome positions 2712398-27307988) and SLC4A7 (chromosome positions 27389218-27473249) inferred from the NCBI reference assembly (solid arrow) and Ensembl (dashed arrow) are indicated. (nih.gov)
  • copies
  • As in invasive breast carcinomas Her-2 overexpression has been related to an increased number of chromosome 17 copies, a common chromosomal alteration in OSCC, we evaluated the association between polysomy 17 and Her-2 protein expression in a series of primary OSCC. (biomedsearch.com)
  • Two copies of chromosome 17, one copy inherited from each parent, form one of the pairs. (nih.gov)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 17. (nih.gov)
  • This chromosome segment is prone to rearrangement during cell division, which can lead to extra or missing copies of DNA at 17q12. (nih.gov)
  • disease
  • What we did with sequencing the human genome,' Venter says, 'is leading to a better understanding of what causes disease. (cnn.com)
  • Pathologically, affected FTDP-17 brains share tau aggregates with other tauopathies, the most common being Alzheimer's disease. (ox.ac.uk)
  • These suggest that human Kir5.1 may be involved in the regulation of fluid and pH balance, thus making it a potential therapeutic target for hypertension, renal failure, or pancreatic disease. (nih.gov)
  • Consortium
  • A meta-analysis of four European genome screens (GIFT Consortium) shows evidence for a novel region on chromosome 17p11.2-q22 linked to type 2 diabetes. (ox.ac.uk)
  • locus
  • Of several other features, the presence or absence of presenile hearing loss was the best predictor of the mutant locus in OI type I families, with 13 of the 17 COL1A1 segregants and none of the 7 COL1A2 segregants showing this feature. (ox.ac.uk)
  • segment
  • This chromosome segment is surrounded by short, repeated sequences of DNA that make it prone to rearrangement during cell division. (nih.gov)
  • novel
  • Novel FISH probes identified 2 additional cases of t(15;17)-negative acute promyelocytic leukemia that had cytogenetically invisible insertions. (nih.gov)
  • A novel human Kir5.1 (inward rectifier K+ channel subunit, gene name KCNJ16) was identified through database searches. (nih.gov)
  • tumors
  • Chromosome 12-containing markers, including two dicentrics, in three i(12p)-negative testicular germ cell tumors. (naver.com)
  • Evidence
  • Evidence for a gene influencing blood pressure on chromosome 17. (semanticscholar.org)
  • The analysis provided evidence for linkage of type 2 diabetes to six regions, with the strongest evidence on chromosome 17p11.2-q22 (P=0.0016), followed by 2p22.1-p13.2 (P=0.027), 1p13.1-q22 (P=0.028), 12q21.1-q24.12 (P=0.029), 6q21-q24.1 (P=0.033) and 16p12.3-q11.2 (P=0.033). (ox.ac.uk)
  • type
  • On the other hand, Sillence OI type I segregated with both COL1A1 (17 pedigrees) and COL1A2 (7 pedigrees). (ox.ac.uk)
  • Tissue
  • Tissue distribution studies showed that human KCNJ16 is significantly expressed in human kidney, pancreas and thyroid gland. (nih.gov)
  • Understanding
  • The identification of DNA, combined with human creativity, has been of tremendous importance not only for understanding life but for practical applications in medicine, agriculture , and other areas. (newworldencyclopedia.org)