Results 171 to 180 of about 21,466 (185)

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

Genetics in Medicine, 2020
Benjamin J Livesey, Anthony T Moore, Kathleen A. Williamson   +2 more
exaly  

PAX6 minipromoters

2020
SIMPSON ELIZABETH M, WASSERMAN WYETH W, HICKMOTT JACK, MOLDAY ROBERT   +3 more
openaire   +1 more source

The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye

Genes, 2019
Gavin Arno, Dulce Lima Cunha, Marta Cortón   +2 more
exaly  

Down-regulation of Pax6 is associated with abnormal differentiation of corneal epithelial cells in severe ocular surface diseases†

Journal of Pathology, 2008
Gustavo Blanco, S C G Tseng
exaly  

Pax6 dosage requirements in iris and ciliary body differentiation

Developmental Biology, 2009
Paul A Overbeek, Ruth Asehry-Padan, Ernst R Tamm   +2 more
exaly  

Pax6 and neuronal fate

Trends in Genetics, 1997
openaire   +1 more source

Microarray investigation of the role of Pax6 at the PSPB using a novel tauGFP-Pax6 reporter mouse

2010
Pax6 encodes a highly conserved transcriptional regulator that is widely expressed during development of the eye, olfactory bulbs and central nervous system. Pax6-/- mice exhibit severe brain defects, lack eyes and nasal structures, and die at birth.
openaire   +1 more source

The Long Noncoding RNA Paupar Modulates PAX6 Regulatory Activities to Promote Alpha Cell Development and Function

Cell Metabolism, 2019
Raúl Rabadán, Ruth A Singer, Kristin E Burnum   +2 more
exaly  

Generation of a Pax6 reporter mouse

2018
An expression cassette encoding GFP and an IRES-neoR vector were inserted into the YAC in frame with the normal PAX6 translation start point in exon 4. preserving the rest of the PAX6 locus. This put GFP and neomycin under the control of the PAX6 regulatory elements.
openaire   +1 more source

A case of novel de novo paired box gene 6 (PAX6) mutation with early-onset diabetes mellitus and aniridia

Diabetic Medicine, 2005
K Nanjo, S Saika
exaly