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Lacrimal gland organoids: A systematic review on development, characterization, molecular profiling and translational potential in dry eye disease. [PDF]
Exp Eye ResSiddiqui MG +5 more
europepmc +1 more source
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Autoregulation of Pax6 in neuronal cells is mediated by Pax6(5a), Pax6(ΔPD), SPARC, and p53
Molecular Biology Reports, 2022Pax6, a multifunctional protein and a transcriptional regulator is critical for optimal functioning of neuronal cells. It is known that alternatively spliced Pax6 isoforms and co-expressed interacting proteins mediate cell/tissue specific autoregulation of Pax6, however, underlying mechanism(s) are poorly understood.We used Neuro-2a cells to explore ...
Sachin Shukla +2 more
exaly +3 more sources
The role of Pax6 in forebrain development
Developmental Neurobiology, 2011AbstractPax6 encodes a highly conserved transcriptional regulator with two DNA‐binding motifs, a paired domain and a paired‐like homeodomain. Humans carrying PAX6 loss‐of‐function mutations suffer from abnormal development of the eyes (congenital aniridia) and brain. Small eye mice carrying Pax6 loss‐of‐function mutations provide a good model for these
David J Price
exaly +3 more sources
Human Mutation, 1998
Mutations in PAX6 are responsible for human aniridia and have also been found in patients with Peter's anomaly, with congenital cataracts, with autosomal dominant keratitis, and with isolated foveal hypoplasia. No locus other than chromosome 11p13 has been implicated in aniridia, and PAX6 is clearly the major, if not only, gene responsible.
J, Prosser, V, van Heyningen
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Mutations in PAX6 are responsible for human aniridia and have also been found in patients with Peter's anomaly, with congenital cataracts, with autosomal dominant keratitis, and with isolated foveal hypoplasia. No locus other than chromosome 11p13 has been implicated in aniridia, and PAX6 is clearly the major, if not only, gene responsible.
J, Prosser, V, van Heyningen
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Aniridia with PAX6 mutations and narcolepsy
Journal of Sleep Research, 2020Abstract PAX6 gene mutations cause a variety of eye and central nervous system (CNS) abnormalities. Aniridia is often accompanied by CNS abnormalities such as pineal gland atrophy or hypoplasia, leading to disturbed circadian rhythm and sleep disorders.
Shala Ghaderi Berntsson +10 more
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Role of Pax6 in forebrain regionalization
Brain Research Bulletin, 2005Pax6 is a highly conserved transcription factor essential for the development of the eyes in vertebrate and invertebrate species. It is also required for normal development of many regions of the central nervous system, including the mammalian forebrain, hindbrain and spinal cord.
Martine, Manuel, David J, Price
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Pax6; A pleiotropic player in development
BioEssays, 2002AbstractPax6 is a transcription factor essential for the development of tissues including the eyes, central nervous system and endocrine glands of vertebrates and invertebrates. It regulates the expression of a broad range of molecules, including transcription factors, cell adhesion and short‐range cell–cell signalling molecules, hormones and ...
T Ian, Simpson, David J, Price
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Human Molecular Genetics, 1993
Aniridia is a congenital malformation of the eye, chiefly characterised by iris hypoplasia, which can cause blindness. The PAX6 gene was isolated as a candidate aniridia gene by positional cloning from the smallest region of overlap of aniridia-associated deletions.
I M, Hanson +6 more
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Aniridia is a congenital malformation of the eye, chiefly characterised by iris hypoplasia, which can cause blindness. The PAX6 gene was isolated as a candidate aniridia gene by positional cloning from the smallest region of overlap of aniridia-associated deletions.
I M, Hanson +6 more
openaire +2 more sources