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  • Mutations
  • Mutations in this genes result in combined pituitary hormone deficiency. (cancerindex.org)
  • Mutations in the PROP1 and HESX1 genes were not identified in these patients with sporadic GHD, CPHD and SOD. (scielo.br)
  • Mutations in the genes encoding these factors are responsible for structural defects of the pituitary gland and hormonal deficiencies. (scielo.br)
  • 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 this gene have been associated with autism and polydactyly in humans. (wikipedia.org)
  • Mutations in the HESX1 gene are associated with some cases of septo-optic dysplasia or Pickardt-Fahlbusch syndrome. (wikipedia.org)
  • clathrin coated pits
  • Unlike most enveloped viruses which use clathrin coated pits for cellular entry and bind to their receptors in a pH dependent fashion, Lassa and lymphocytic choriomeningitis virus instead use an endocytotic pathway independent of clathrin, caveolin, dynamin and actin. (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)
  • downstream
  • 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)
  • 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)
  • Genetic
  • We performed genetic analysis of PROP1 gene in a Turkish pedigree with three siblings who presented with short stature. (hindawi.com)
  • A curated database of genes associated with dietary restriction in model organisms either from genetic manipulation experiments or gene expression profiling. (senescence.info)
  • Genetic alterations in one or several other genes, or non-genetic mechanisms, must be implicated in the pathogenic process. (scielo.br)
  • mRNA
  • 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)
  • Thus, synthesis of mRNA is the first step that controls eukaryotic gene expression. (mdpi.com)
  • elongation, during which the transcripts are completed and termination, when Pol II and the full length mRNA disengage from the DNA template [ 1 ]. (mdpi.com)
  • The first replication step is transcription of mRNA copies of the negative- or minus-sense genome. (wikipedia.org)
  • pituitary gland
  • The pituitary gland is composed of the adenohypophysis, which is comprised of an anterior and intermediate lobe, and the neurohypophysis, which consists of projections of hypothalamic magnocellular neurons (1). (scielo.br)
  • regulatory
  • 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)
  • 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)
  • Organism
  • 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)
  • 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)
  • 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)
  • mechanisms
  • A wide range of genes are expressed on demand, controlled by different mechanisms according to their function. (mdpi.com)