Results 141 to 150 of about 21,466 (185)

What does a negative genetic test mean? [PDF]

open access: yesOman J Ophthalmol
Schwartz S, Capasso J, Levin AV.
europepmc   +1 more source

PAX6 Deficiency Compromises the Ability of Limbal Epithelial Stem Cells to Properly Differentiate Into Mature Corneal Epithelial Cells. [PDF]

open access: yesInvest Ophthalmol Vis Sci
Foroozandeh P   +9 more
europepmc   +1 more source

Heat shock protein 72 (HSP72) modulates glucagon secretion via JNK inhibition in pancreatic α-cells. [PDF]

open access: yesDiabetol Int
Watanabe T   +12 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, 2022
Pax6, 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
exaly   +3 more sources

The role of Pax6 in forebrain development

Developmental Neurobiology, 2011
AbstractPax6 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

PAX6 mutations reviewed

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
openaire   +2 more sources

Aniridia with PAX6 mutations and narcolepsy

Journal of Sleep Research, 2020
AbstractPAX6 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
openaire   +2 more sources

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