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Lineage-resolved atlas of the developing human cortex. [PDF]
NatureKeefe MG, Steyert MR, Nowakowski TJ.
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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, Rajnikant Mishra
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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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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
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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.
Shala Ghaderi Berntsson +10 more
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Current Opinion in Ophthalmology, 2017
Aniridia is a rare and panocular disorder affecting most of the ocular structures which may have significant impact on vision. The purpose of this review is to describe the clinical features, genetics, and therapeutic options for this disease and to provide an update of current knowledge and latest research findings.Aside from the ocular features, a ...
Hyun Taek, Lim, Dae Hee, Kim, Hyuna, Kim
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Aniridia is a rare and panocular disorder affecting most of the ocular structures which may have significant impact on vision. The purpose of this review is to describe the clinical features, genetics, and therapeutic options for this disease and to provide an update of current knowledge and latest research findings.Aside from the ocular features, a ...
Hyun Taek, Lim, Dae Hee, Kim, Hyuna, Kim
openaire +2 more sources