• genetic
  • Thus, we provide definitive evidence for a critical role for Dcx in neuronal migration and neurogenesis, as well as for the in vivo genetic interaction of the two genes most commonly involved in human neuronal migration defects. (jneurosci.org)
  • The researchers concluded that each of the women's cancers began with genetic mistakes occurring in cells located in the fallopian tubes, and that ovarian cancers developed within an average of 6.5 years among the patients analyzed. (jhu.edu)
  • Since genetic instructions (genes) are located on chromosomes, the deletion causes a person to have many missing genes. (diseaseinfosearch.org)
  • The AN2 region of the short arm of chromosome 11 (11p13) includes the PAX6 gene (named for its PAired boX status), whose gene product helps regulate a cascade of other genetic processes involved in the development of the eye (as well as other non-ocular structures). (wikipedia.org)
  • Presumably, the genetic defect in these individuals causes less "heterozygous insufficiency," meaning they retain enough gene function to yield a milder phenotype. (wikipedia.org)
  • encodes
  • This gene encodes a member of the tripartite motif (TRIM) family. (bio-rad.com)
  • The human IL-3 gene encodes a protein 152 amino acids long, and the naturally occurring IL-3 is glycosylated. (wikipedia.org)
  • This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. (wikipedia.org)
  • distantly related species
  • This sequence similarity in the 5' UTR and 3' UTR does not extend past mammalian species, and shows almost no similarity in a Dot Plot of the Human gene with distantly related species, such as Xenopus tropicalis. (wikipedia.org)
  • The NRDE (DUF883) domain, is a domain of unknown function spanning majority of the C22orf25 gene and is found among distantly related species, including viruses. (wikipedia.org)
  • UniGene
  • The human expression profile from NCBI UniGene suggests that this gene has widespread expression in many different tissues in the body. (wikipedia.org)
  • causative
  • From analysis of chromosomal breakpoints, as well as gene sequencing in suggestive cases, Kleefstra and colleagues identified EHMT1 as the causative gene. (wikipedia.org)
  • Most of these studies have served to rule-out genes as causative factors in MRKH, but thus far, only WNT4 has been associated with MRKH with hyperandrogenism. (wikipedia.org)
  • disorder
  • citation needed] WNT4 (found on the short arm (p) of chromosome 1) has been clearly implicated in the atypical version of this disorder. (wikipedia.org)
  • binds
  • Sequence-specific transcription factor that binds gene promoters and activates their transcription. (genecards.org)
  • Expression
  • Real-time PCR primer assay designed for SYBR ® Green gene expression analysis. (bio-rad.com)
  • Gene-specific PCR primers for the unbiased preamplification of small quantities of cDNA for subsequent use in downstream gene expression analysis. (bio-rad.com)
  • This expression profile suggests that this gene is a "housekeeping gene," one that has important effects in all cells, regardless of tissue. (wikipedia.org)
  • This expression data does not seem to give any clues into specific function, except to suggest that the gene is involved in a "housekeeping" function of nearly all cells. (wikipedia.org)
  • The highest levels of expression are located in mammary glands and testis. (wikipedia.org)
  • homologue
  • In Caenorhabditis elegans, the snt-1 gene (C22orf25 homologue) was expressed in the nerve ring, ventral and dorsal cord processes, sites of neuromuscular junctions, and in neurons. (wikipedia.org)
  • Adult
  • In addition to effects during embryogenesis, this particular gene may also play a role in adult urogenital tract function. (wikipedia.org)
  • Transcription
  • Near the start of transcription site in the human C16orf13 gene, there is high conservation among the primates in which upstream data was available, specifically the human, orangutan, and rhesus monkey C16orf13 gene orthologs. (wikipedia.org)
  • sequence
  • The plot indicates sequence conservation at the beginning and end of the gene, suggesting conservation and similarity in the 5' and 3' untranslated regions. (wikipedia.org)