Results 21 to 30 of about 22,874 (232)
A Case of Autosomal Dominant Bilateral Familial Aniridia
GAIMS Journal of Medical Sciences, 2021 Aniridia is a familial or sporadic disorder affecting not only the iris but also the cornea, angle structures, lens, optic nerve, and fovea. This disorder may be associated with many other systemic abnormalities such as urogenital malignancies. We report
Kinjal Mehta, Nikhil Rupala, Kavita Shah
doaj +1 more source
Requirement of Pax6 for the integration of guidance cues in cell migration [PDF]
Royal Society Open Science, 2017 The intricate patterns of cell migration that are found throughout development are generated through a vast array of guidance cues. Responding integratively to distinct, often conflicting, migratory signals is probably crucial for cells to reach their ...
Miguel Arocena +2 more
doaj +1 more source
Biology, 2022 Neural regeneration is very limited in humans but extremely efficient in echinoderms. The brittle star Amphiura filiformis can regenerate both components of its central nervous system as well as the peripheral system, and understanding the molecular ...
Anna Czarkwiani +2 more
doaj +1 more source
The Human PAX6 Mutation Database [PDF]
Nucleic Acids Research, 1998 The Human PAX6 Mutation Database contains details of 94 mutations of the PAX6 gene. A Microsoft Access program is used by the Curator to store, update and search the database entries. Mutations can be entered directly by the Curator, or imported from submissions made via the World Wide Web.
Alastair Brown +3 more
openaire +2 more sources
The MH1 domain of Smad3 interacts with Pax6 and represses autoregulation of the Pax6 P1 promoter [PDF]
Nucleic Acids Research, 2007 Pax6 transcription is under the control of two main promoters (P0 and P1), and these are autoregulated by Pax6. Additionally, Pax6 expression is under the control of the TGFbeta superfamily, although the precise mechanisms of such regulation are not understood. The effect of TGFbeta on Pax6 expression was studied in the FHL124 lens epithelial cell line
Grocott, Timothy +7 more
openaire +3 more sources
BMC Research Notes, 2018 Objective The corneas of heterozygous Pax6 +/− mice develop abnormally and deteriorate further after birth but it is not known whether the postnatal deterioration is predetermined by abnormal development.
Natalie J. Dorà +6 more
doaj +1 more source
Downregulation of PAX6 by shRNA inhibits proliferation and cell cycle progression of human non-small cell lung cancer cell lines. [PDF]
PLoS ONE, 2014 The transcription factor PAX6 is primarily expressed in embryos. PAX6 is also expressed in several tumors and plays an oncogenic role. However, little is known about the role of PAX6 in lung cancer.The function of PAX6 in lung cancer cells was evaluated ...
Xiaoting Zhao +7 more
doaj +1 more source
Positive autoregulation of the transcription factor Pax6 in response to increased levels of either of its major isoforms, Pax6 or Pax6(5a), in cultured cells [PDF]
BMC Developmental Biology, 2006 Abstract Background Pax6 is a transcription factor essential for normal development of the eyes and nervous system. It has two major isoforms, Pax6 and Pax6(5a), and the ratios between their expression levels vary within narrow limits.
Pinson, Jeni +3 more
openaire +3 more sources
Visual Acuity in Aniridia and WAGR Syndrome
Clinical Ophthalmology, 2023 Michael A Krause,1 Kelly L Trout,2 James D Lauderdale,3 Peter A Netland1 1Department of Ophthalmology, University of Virginia School of Medicine, Charlottesville, VA, USA; 2International WAGR Syndrome Association, Montgomery Village, MD, USA; 3Department
Krause MA +3 more
doaj
PLoS ONE, 2011 BackgroundAltered dosage of the transcription factor PAX6 causes multiple human eye pathophysiologies. PAX6⁺/⁻ heterozygotes suffer from aniridia and aniridia-related keratopathy (ARK), a corneal deterioration that probably involves a limbal epithelial ...
Richard L Mort +8 more
doaj +1 more source