• Mutation
  • Van der Woude syndrome is inherited as an autosomal dominant disease caused by a mutation in a single gene with equal distribution between the sexes. (wikipedia.org)
  • genomic
  • 1998). "Human Prop-1: cloning, mapping, genomic structure. (wikipedia.org)
  • A search of NSCL/P cases for potential regulatory elements for IRF6 gene was made aligning genomic sequences to a 500 Kb region encompassing IRF6 from 17 vertebrate species. (wikipedia.org)
  • differentiation
  • As for cell-type specification, lineage-restricted transcription factors play an important role in lineage commitment and tissue differentiation. (ahajournals.org)
  • For example, the MyoD gene family of skeletal muscle-specific transcription factors plays a critical role in skeletal muscle differentiation. (ahajournals.org)
  • 12 13 Many non- Hox class homeobox genes have been identified to date, and some of them, eg, Pit-1 , 14 TTF-1 (also called Nkx-2.1) , 15 16 or Gtx , 17 show restricted expression patterns in specific tissues or cell types, suggesting their role in the differentiation of the tissues. (ahajournals.org)
  • In fact, Pit-1 is expressed only in the anterior pituitary gland and is necessary for the differentiation of the pituitary cells. (ahajournals.org)
  • However, several pro-inflammatory cytokines, including tumor necrosis factor-α (TNF-α) and interleukin (IL)-1, in combination with the RANK-RANKL complex, play a crucial role in enhancing osteoclast differentiation and activation in chronic inflammatory conditions, such as rheumatoid arthritis (RA), psoriatic arthritis (PsA), and chronic gouty arthritis ( 4 - 7 ). (pubmedcentralcanada.ca)
  • This suggests that IL-1 is a crucial cytokine for osteoclast differentiation and activation, and can thus be considered a potent therapeutic target in the treatment of bone disorders ( 11 ). (pubmedcentralcanada.ca)
  • Akin to the way that POU homeodomain regulators lead to tissue differentiation in metazoans, this transcription factor is critical for differentiation of a subpopulation of B. subtilis into a state of genetic competence. (wikipedia.org)
  • deficiency
  • 1 Clinical conditions resulting from TH deficiency will depend on the degree and duration of the deficiency, and will affect basically all tissues to a lower or greater extent. (scielo.br)
  • lower lip pits
  • Van der Woude syndrome (VDWS) is a genetic disorder characterized by the combination of lower lip pits, cleft lip with or without cleft palate, and cleft palate alone (CP). (wikipedia.org)
  • The association between lower lip pits and cleft lip and/or palate was first described by Anne Van der Woude in 1954. (wikipedia.org)
  • The disease has high penetrance at about 96% but the phenotypic expression varies from lower lip pits with cleft lip and cleft palate to no visible abnormalities. (wikipedia.org)
  • Approximately 88% of VWS patients display lower lip pits, and in about 64% of cases lip pits are the only visible defect. (wikipedia.org)
  • Lower lip pits may also be bilaterally, unilaterally, or medially asymmetrical. (wikipedia.org)
  • domain genes
  • POU domain genes have been described in organisms as divergent as Caenorhabditis elegans, Drosophila, Xenopus, zebrafish and human but have not been yet identified in plants and fungi. (wikipedia.org)
  • Comparisons of POU domain genes across the animals suggests that the family can be divided into six major classes (POU1-POU6). (wikipedia.org)
  • expression vectors
  • Co-transfection experiments in non-pituitary cell lines, using expression vectors for Pit-1 and different mutants of the human GR show that inhibition of the hPRL gene is seen only in the presence of Pit-1 and GR, and that the DNA binding function of the receptor is not required. (ac.be)
  • isoforms
  • Multiple transcript variants encoding different isoforms have been found for this gene. (cancerindex.org)
  • Two transcript variants encoding distinct isoforms have been identified for this gene. (wikipedia.org)
  • There have also been studies showing different isoforms of the transcription factor: Pitx2a, Pitx2b, and Pitx2c, each with distinct and non-overlapping functions. (wikipedia.org)
  • binds
  • CPEB-1 binds c-Jun 3′ untranslated region CPEs in vitro and coimmunoprecipitates c-Jun RNA in vivo . (jneurosci.org)
  • AP2-alpha is a 52-kD retinoic acid-inducible and developmentally regulated activator of transcription that binds to a consensus DNA-binding sequence GCCNNNGGC in the SV40 and metallothionein promoters. (wikipedia.org)
  • polymerase
  • Many of these GTFs do not actually bind DNA, but rather are part of the large transcription preinitiation complex that interacts with RNA polymerase directly. (wikipedia.org)
  • Drosophila
  • It has been demonstrated that a Drosophila homeobox-containing gene, tinman, is expressed in the developing dorsal vessel, an insect equivalent of the vertebrate heart. (ahajournals.org)
  • OSR1 and OSR2 are homologous to the Odd-skipped class transcription factors in Drosophila, encoded by odd, bowl, sob and arm. (wikipedia.org)
  • Eye development is initiated by the master control gene Pax-6, a homeobox gene with known homologues in humans (aniridia), mice (small eye), and Drosophila (eyeless). (wikipedia.org)
  • regulatory
  • Its binding site is a GC-rich sequence that is present in the cis-regulatory regions of several viral and cellular genes. (wikipedia.org)
  • Studies have shown that lens development requires the presence of the Pax6 gene, which is the master regulatory gene for eye morphogenesis. (wikipedia.org)
  • This master regulatory gene is not necessary for the closely associated optic vesicle development. (wikipedia.org)
  • regulate
  • The function of TFs is to regulate - turn on and off - genes in order to make sure that they are expressed in the right cell at the right time and in the right amount throughout the life of the cell and the organism. (wikipedia.org)
  • A defining feature of TFs is that they contain at least one DNA-binding domain (DBD), which attaches to a specific sequence of DNA adjacent to the genes that they regulate. (wikipedia.org)