Philip J. Mason
Publications by Year
Research Areas
Telomeres, Telomerase, and Senescence, Neonatal Health and Biochemistry, RNA modifications and cancer, RNA regulation and disease, Cancer-related gene regulation
Most-Cited Works
- → X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions(1998)955 cited
- → The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita(2001)951 cited
- → Targeted disruption of the housekeeping gene encoding glucose 6-phosphate dehydrogenase (G6PD): G6PD is dispensable for pentose synthesis but essential for defense against oxidative stress.(1995)553 cited
- → Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC(2004)460 cited
- → Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.(1994)401 cited
- → Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation(2005)336 cited