Associated Papers
Exploring Large MAF Transcription Factors: Functions, Pathology, and Mouse Models with Point Mutations.
Fujino M et al.
Genes, 2023
Generation of Lens Progenitor Cells and Lentoid Bodies from Pluripotent Stem Cells: Novel Tools for Human Lens Development and Ocular Disease Etiology.
Cvekl A et al.
Cells, 2022
Broadening the genotypic and phenotypic spectrum of MAF in three Chinese Han congenital cataracts families.
Wang Q et al.
American Journal of Medical Genetics. Part A, 2022
Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.
Anand D et al.
Human Mutation, 2018
Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).
Javadiyan S et al.
Bmc Medical Genetics, 2017
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Niceta M et al.
American Journal of Human Genetics, 2015
Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes.
Vanita V et al.
Molecular and Cellular Biochemistry, 2014
Association of a rare haplotype in Kinesin light chain 1 gene with age-related cataract in a han chinese population.
Zhang L et al.
Plos One, 2013
A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type.
Vanita V et al.
Molecular and Cellular Biochemistry, 2012
The transcription factor c-Maf controls touch receptor development and function.
Wende H et al.
Science (new York, N.y.), 2012
A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation.
Perveen R et al.
Human Molecular Genetics, 2007
CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract.
Zenteno JC et al.
Molecular Vision, 2005
A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding.
Lyon MF et al.
Human Molecular Genetics, 2003
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