Philip J. Mason spends much of his time researching Dyskerin, Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, Telomerase and TINF2. His Dyskeratosis congenita research is within the category of Genetics. Philip J. Mason mostly deals with Mutation in his studies of Genetics.
As a member of one scientific family, Philip J. Mason mostly works in the field of Telomerase, focusing on Telomere and, on occasion, Bone marrow failure and Aplastic anemia. The TINF2 study which covers Immunology that intersects with Microcephaly. His study in Telomerase RNA component is interdisciplinary in nature, drawing from both RNA and Germline.
His primary scientific interests are in Genetics, Dyskeratosis congenita, Molecular biology, Telomerase and Gene. His study focuses on the intersection of Genetics and fields such as Enzyme with connections in the field of Recombinant DNA. Dyskerin is the focus of his Dyskeratosis congenita research.
His biological study deals with issues like Hoyeraal-Hreidarsson syndrome, which deal with fields such as TINF2. His research on Molecular biology also deals with topics like
Philip J. Mason mainly investigates Dyskeratosis congenita, Molecular biology, Telomerase, Dyskerin and Telomere. His Dyskeratosis congenita research is multidisciplinary, incorporating elements of Mutation, Germline mutation, Bone marrow failure and Pathology. Mutation is a subfield of Genetics that Philip J. Mason investigates.
In his study, which falls under the umbrella issue of Bone marrow failure, Cancer research, TINF2, Stop codon and Missense mutation is strongly linked to Immunology. His Molecular biology research is multidisciplinary, relying on both RNA, Stem cell and Mutant. His study in the field of Telomerase RNA component and Telomere Maintenance Gene also crosses realms of Skin hyperpigmentation.
Philip J. Mason focuses on Molecular biology, Stem cell, Telomerase, Untranslated region and Genetic enhancement. His Telomerase study focuses mostly on Dyskerin and Dyskeratosis congenita. His Dyskerin research integrates issues from Hematopoietic stem cell and Senescence, Cell aging.
His Dyskeratosis congenita study integrates concerns from other disciplines, such as Cancer research and TERT Gene Mutation. His Untranslated region study combines topics from a wide range of disciplines, such as Haematopoiesis, Hematopoietic Tissue, Transgene, Myeloproliferative Disorders and Bone marrow. His work carried out in the field of Telomere brings together such families of science as Immunology, Bone marrow failure, Telomerase RNA component and Mutation.
This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
Tom Vulliamy;Anna Marrone;Frederick Goldman;Andrew Dearlove.
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
Nina S. Heiss;Stuart W. Knight;Tom J. Vulliamy;Sabine M. Klauck.
Nature Genetics (1998)
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
Tom Vulliamy;Anna Marrone;Richard Szydlo;Amanda Walne.
Nature Genetics (2004)
Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.
M Bessler;P J Mason;P Hillmen;T Miyata.
The EMBO Journal (1994)
Identification of ATPases Pontin and Reptin as Telomerase Components Essential for Holoenzyme Assembly
Andrew S. Venteicher;Zhaojing Meng;Philip J. Mason;Timothy D. Veenstra.
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.
Tom J. Vulliamy;Tom J. Vulliamy;Tom J. Vulliamy;Anna Marrone;Anna Marrone;Anna Marrone;Stuart W. Knight;Stuart W. Knight;Stuart W. Knight;Amanda Walne;Amanda Walne;Amanda Walne.
Mutations in the genes encoding 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency
Nicole Draper;Elizabeth A Walker;Iwona J Bujalska;Jeremy W Tomlinson.
Nature Genetics (2003)
Glucose-6-phosphate dehydrogenase deficiency
Atul Mehta;Philip J. Mason;Tom J. Vulliamy.
Baillière's clinical haematology (2000)
Association between aplastic anaemia and mutations in telomerase RNA
Tom Vulliamy;Anna Marrone;Inderjeet Dokal;Philip J Mason.
The Lancet (2002)
G6PD deficiency: the genotype-phenotype association
Philip J Mason;José M Bautista;Florinda Gilsanz.
Blood Reviews (2007)
If you think any of the details on this page are incorrect, let us know.
We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below: