Cargando…
Functional analysis of human mutations in homeodomain transcription factor PITX3
BACKGROUND: The homeodomain-containing transcription factor PITX3 was shown to be essential for normal eye development in vertebrates. Human patients with point mutations in PITX3 demonstrate congenital cataracts along with anterior segment defects in some cases when one allele is affected and micro...
Autores principales: | Sakazume, Satoru, Sorokina, Elena, Iwamoto, Yoshiki, Semina, Elena V |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2007
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2093940/ https://www.ncbi.nlm.nih.gov/pubmed/17888164 http://dx.doi.org/10.1186/1471-2199-8-84 |
Ejemplares similares
-
MIP/Aquaporin 0 Represents a Direct Transcriptional Target of PITX3 in the Developing Lens
por: Sorokina, Elena A., et al.
Publicado: (2011) -
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics
por: Verdin, Hannah, et al.
Publicado: (2014) -
PITX2 deficiency and associated human disease: insights from the zebrafish model
por: Hendee, Kathryn E, et al.
Publicado: (2018) -
pitx2 Deficiency Results in Abnormal Ocular and Craniofacial Development in Zebrafish
por: Liu, Yi, et al.
Publicado: (2012) -
Microphthalmia in Texel Sheep Is Associated with a Missense Mutation in the Paired-Like Homeodomain 3 (PITX3) Gene
por: Becker, Doreen, et al.
Publicado: (2010)