• Mutations
  • Mutations in this genes result in combined pituitary hormone deficiency. (cancerindex.org)
  • Multiple mutations on GATA2 gene have been recently implicated as the cause of primary immunodeficiency in patients with MonoMAC Syndrome, and cases of dendritic cell, monocyte, B NK lymphoid deficiency and leukemia. (wikipedia.org)
  • Mutations in this gene have also been associated with familial myelodysplastic syndrome/acute myeloid leukemia (MDS/AML) and lymphedema, deafness and myelodysplasia (Emberger syndrome). (wikipedia.org)
  • The combination of homozygote lethality and dosage compensation in heterozygotes may explain why POU4F1 mutations have not been identified in any human disease, whereas diseases are associated with several other members of the POU domain transcription factor class. (wikipedia.org)
  • Mutations in the TFAP2A gene cause Branchio-oculo-facial syndrome often with a midline cleft lip. (wikipedia.org)
  • Sequencing of candidate genes in that region in 4 additional unrelated BOFS patients revealed 4 different de novo missense mutations in the exons 4 and 5 of the TFAP2A gene. (wikipedia.org)
  • Mutations in IRF6 gene cause Van der Woude syndrome (VWS) that is a rare mendelian clefting autossomal dominant disorder with lower lip pits in 85% of affected individuals. (wikipedia.org)
  • Mutations in the AP-2 alpha gene also cause branchio-oculo-facial syndrome, which has overlapping features with Van der Woude syndrome such as orofacial clefting and occasional lip pits what make rs642961 a good candidate for an etiological variant. (wikipedia.org)
  • Mutations in this gene have been associated with a syndrome of combined pituitary hormone deficiency and rigid cervical spine. (wikipedia.org)
  • Mutations in this gene are associated with Axenfeld-Rieger syndrome (ARS), iridogoniodysgenesis syndrome (IGDS), and sporadic cases of Peters anomaly. (wikipedia.org)
  • Mutations in the HESX1 gene are associated with some cases of septo-optic dysplasia or Pickardt-Fahlbusch syndrome. (wikipedia.org)
  • Mutations in this gene have been associated with autism and polydactyly in humans. (wikipedia.org)
  • The majority of VWS cases are caused by haploinsufficiency due to mutations in the interferon regulatory factor 6 gene (IRF6) on chromosome 1 in the 1q32-q41 region known as VWS locus 1. (wikipedia.org)
  • 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)
  • phenotype
  • The most common phenotype is two symmetrical lower lip pits flanking both sides of the midline in the bilateral paramedial sinuses. (wikipedia.org)
  • downstream
  • Gene-specific PCR primers for the unbiased preamplification of small quantities of cDNA for subsequent use in downstream gene expression analysis. (bio-rad.com)
  • Brn3a is a transcription factor which acts in development by regulating downstream "target" genes. (wikipedia.org)
  • Microarrays have been used to determine many genes downstream of Brn3a in peripheral sensory neurons. (wikipedia.org)
  • In the sensory neurons Brn3a is co-expressed with the LIM domain transcription factor ISL1 or Islet1, and has many downstream targets in common with Isl1. (wikipedia.org)
  • This can be explained by gene dosage compensation due to autoregulation, in which expression of the remaining copy of the Pou4f1 gene is increased in heterozygotes, leading to near-normal expression of its downstream targets. (wikipedia.org)
  • The Pitx2 gene is thus shown to be downstream of Pax3 and serve as an intermediate between Pax3 and MyoD. (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)
  • 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)
  • 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)
  • cDNA
  • The iScript advanced cDNA synthesis kit for RT-qPCR is a simple, fast, and sensitive first-strand cDNA synthesis kit for gene expression analysis by reverse-transcription qPCR. (bio-rad.com)
  • 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)
  • binds
  • 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)
  • human
  • At 10 −8 M PTH (human 1-34 PTH), stimulation of BSP mRNA was first evident at 3 h (∼3.8-fold), reached maximal levels at 6 h (∼4.7-fold), and declined slowly thereafter. (naver.com)
  • Our purpose was to ascertain whether human ACROs maintain the RET/Pit1/p14ARF/p53/apoptosis pathway, relative to nonfunctioning pituitary adenomas (NFPAs). (cancerindex.org)
  • Human IFNAR1 and IFNAR2 genes are located on chromosome 21q22.1. (wikipedia.org)
  • In human osteoblast and osteosarcoma cell lines, OSR1 is directly induced by 1,25-dihydroxyvitamin D3. (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)