Associated Papers
Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.
Cain B et al.
Biorxiv : the Preprint Server for Biology, 2025
Missense mutations in CRX homeodomain cause dominant retinopathies through two distinct mechanisms.
Zheng Y et al.
Elife, 2023
Missense mutations in CRX homeodomain cause dominant retinopathies through two distinct mechanisms.
Zheng Y et al.
Biorxiv : the Preprint Server for Biology, 2023
Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development.
Sun C et al.
Frontiers in Molecular Neuroscience, 2023
New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.
Pichiecchio A et al.
Bmc Medical Genomics, 2018
Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.
Riera M et al.
Molecular Genetics & Genomic Medicine, 2017
Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology Insights.
Ittisoponpisan S et al.
Human Mutation, 2017
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
The homeobox gene Otx2 in development and disease.
Beby F et al.
Experimental Eye Research, 2013
A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve.
Gorbenko Del Blanco D et al.
European Journal of Endocrinology, 2012
A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.
Henderson RH et al.
Molecular Vision, 2009
OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary.
Tajima T et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters.
Dateki S et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Molecular dissection reveals decreased activity and not dominant negative effect in human OTX2 mutants.
Chatelain G et al.
Journal of Molecular Medicine (berlin, Germany), 2006