Mason, Philip J.

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

Heiss, N. S., Knight, S. W., Vulliamy, T. J., Klauck, S. M., Wiemann, S., Mason, P. J., Poustka, A., & Dokal, I. (1998) · Nature Genetics

Blood disorders and treatmentsNuclear Structure and Function

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The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

Vulliamy, T., Marrone, A., Goldman, F., Dearlove, A., Bessler, M., Mason, P. J., & Dokal, I. (2001) · Nature

Telomeres, Telomerase, and SenescenceBlood disorders and treatments

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Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC

Vulliamy, T., Marrone, A., Szydlo, R., Walne, A., Mason, P. J., & Dokal, I. (2004) · Nature Genetics

Telomeres, Telomerase, and SenescenceBlood disorders and treatments

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Identification of ATPases Pontin and Reptin as Telomerase Components Essential for Holoenzyme Assembly

Venteicher, A. S., Meng, Z., Mason, P. J., Veenstra, T. D., & Artandi, S. E. (2008) · Cell

Telomeres, Telomerase, and SenescenceNuclear Structure and Function

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Mutations in the genes encoding 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency

Draper, N., Walker, E. A., Bujalska, I. J., Tomlinson, J. W., Chalder, S. M., Arlt, W., Lavery, G. G., Bedendo, O., Ray, D. W., Laing, I., et al. (2003) · Nature Genetics

Adrenal Hormones and DisordersSexual Differentiation and Disorders

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TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements

Du, H.-Y., Pumbo, E., Ivanovich, J., An, P., Maziarz, R. T., Reiss, U. M., Chirnomas, D., Shimamura, A., Vlachos, A., Lipton, J. M., et al. (2009) · Blood

Telomeres, Telomerase, and SenescenceBlood disorders and treatments

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