- Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5CDaria Grafodatskaya
Genetics and Genome Biology Program, Hospital for Sick Children, Toronto, ON, Canada
BMC Med Genomics 6:1. 2013..Identification of epigenetic alterations occurring in these disorders could shed light on molecular pathways relevant to neurodevelopment...
- A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palateF E Abidi
Center for Molecular Studies, J C Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA
Clin Genet 72:19-22. 2007..Our finding further supports the hypothesis that the PHF8 protein may play an important role in cognitive function and midline formation...
- Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexiaF E Abidi
Self Research Institute of Human Genetics, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA
J Med Genet 45:787-93. 2008..The JARID1C protein functions as a histone 3 lysine 4 (H3K4) demethylase and is involved in the demethylation of H3K4me3 and H3K4me2...