Associated Papers
Novel cataract-causing variant c.177dupC in c-MAF regulates the expression of crystallin genes for cell apoptosis via a mitochondria-dependent pathway.
Li L et al.
Molecular Genetics and Genomics : Mgg, 2023
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
Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing
Taylan Şekeroğlu H et al.
Turkish Journal of Ophthalmology, 2021
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
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 2014
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.
Hansen L et al.
Investigative Ophthalmology & Visual Science, 2009
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