Comparative Analysis of Ectodermal Marker Expression in Human Adipose-Derived Stem Cells and Amniotic Epithelial Cells Exposed to Ectoderm-Inducing Conditions. [PDF]
Sikora B +5 more
europepmc +1 more source
What does a negative genetic test mean? [PDF]
Schwartz S, Capasso J, Levin AV.
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Exploring the impact of human pluripotent stem cell heterogeneity on corneal limbal stem cell differentiation outcomes. [PDF]
Harjuntausta S +3 more
europepmc +1 more source
Regionalization of the Developing Hypothalamus: The Prosomeric and Tripartite Models. [PDF]
Kapsimali M.
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PAX6 Deficiency Compromises the Ability of Limbal Epithelial Stem Cells to Properly Differentiate Into Mature Corneal Epithelial Cells. [PDF]
Foroozandeh P +9 more
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Heat shock protein 72 (HSP72) modulates glucagon secretion via JNK inhibition in pancreatic α-cells. [PDF]
Watanabe T +12 more
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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 ...
Shashank Maurya, Sachin Shukla
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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
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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, 2020AbstractPAX6 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. Less is known on the coincidence of narcolepsy in this patient group.
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