Loading...
  • mutation
  • Recent studies have identified a loss-of-function allele at the HMX1 locus as the causative mutation in the oculo-auricular syndrome (OAS) in humans, characterized by ear and eye malformations. (biologists.org)
  • enhancer
  • In this paper, we discuss the structure of T-cell factor/lymphoid enhancer factor (TCF/LEF) and its role in embryonic skeletal development and the crosstalk with related signaling pathways and factors. (medsci.org)
  • We conclude that the rat dumbo phenotype is likely to result from loss of function of an ultraconserved enhancer specifically regulating Hmx1 expression in neural-crest-derived CM. Dysregulation of Hmx1 expression is thus a candidate mechanism for congenital ear malformation, most cases of which remain unexplained. (biologists.org)
  • phenotype
  • Since Hoxa2 deregulation in mice induces a proportionate short stature phenotype mimicking human idiopathic conditions, our results give an insight into understanding proportionate short stature pathogenesis by highlighting molecular factors whose combined deregulation may be involved in such a disease. (mdpi.com)
  • Runx2
  • Furthermore, we explore recent studies which have provided a tantalizing insight into way these pathways interact, with evidence accumulating for certain transcription factors, such as Runx2, acting as a nexus for cross-talk. (mdpi.com)
  • mouse
  • Although malformation of the SCO during gestation leads to ventricular dilation and aqueductal stenosis before birth (FIGURE 1, B AND C ⇓ ) ( 32 , 80 ), the involvement of specific factors has been slowly elucidated over the past decade through the analysis of mutant mouse models. (physiology.org)
  • important
  • The lens is the only non-neurogenic sensory placode, but is included here because of its important function in vision and because it is generated from the same territory as the neurogenic placodes. (stembook.org)
  • However, as a major member of the antisense transcript family, trans -NATs also widely exist and seem to have important functions. (biomedcentral.com)
  • Developmental
  • It functions by binding to specific DNA sequence that yields tractable developmental and pattern abnormalities during embryogenesis, such as aberrant bone mass homeostasis. (medsci.org)
  • Proper
  • Proper sexual maturation and fertility are dependent upon the correct function of the hypothalamic-pituitary-gonadal axis, initiated by a small, yet critical population of gonadotropin-releasing hormone (GnRH) 1 neurons. (pubmedcentralcanada.ca)