Meghan R. Mulligan
A5092850319- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- RNA Research and Splicing
- Epigenetics and DNA Methylation
- RNA regulation and disease
- Genomics and Rare Diseases
- DNA Repair Mechanisms
- Moyamoya disease diagnosis and treatment
University of Otago
2023-2025
Abstract The non-homologous end joining (NHEJ) pathway is essential to repair DNA double-strand breaks. XRCC4 acts as a stabilizer of the ligase LIG4 in NHEJ process. In humans, pathogenic variants are responsible for microcephalic primordial dwarfism syndrome (MPD). Currently, 17 patients have been reported with -related MPD and we report 7 new from 6 different families, including one fetus. present short stature, severe microcephaly, neurodevelopmental disorder additional features, such...
Epigenetic dysregulation has emerged as an important etiological mechanism of neurodevelopmental disorders (NDDs). Pathogenic variation in epigenetic regulators can impair deposition histone post-translational modifications leading to aberrant spatiotemporal gene expression during neurodevelopment. The male-specific lethal (MSL) complex is a prominent multi-subunit regulator and responsible for 4 lysine 16 acetylation (H4K16ac). Using exome sequencing, here we identify cohort 25 individuals...