Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway

Por Percy, Melanie J
Publicado em 2008

Oxygen Sensing: Recent Insights from Idiopathic Erythrocytosis

Por Lee, Frank S., Percy, Melanie J., McMullin, Mary Frances
Publicado em 2006

A nonsynonymous LNK polymorphism associated with idiopathic erythrocytosis

Por McMullin, Mary Frances, Wu, Chao, Percy, Melanie J, Tong, Wei
Publicado em 2011

A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1α (HIF-1α) does not impair Pro-564 hydroxylation

Por Percy, Melanie J, Mooney, Sharon M, McMullin, Mary Frances, Flores, Adrian, Lappin, Terence RJ, Lee, Frank S
Publicado em 2003

A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove

Por Percy, Melanie J., Furlow, Paul W., Beer, Philip A., Lappin, Terence R. J., McMullin, Mary Frances, Lee, Frank S.
Publicado em 2007

Potential prognostic marker ubiquitin carboxyl-terminal hydrolase-L1 does not predict patient survival in non-small cell lung carcinoma

Por Orr, Katy S, Shi, Zhanzhong, Brown, W Mark, O'Hagan, Kathleen A, Lappin, Terence R, Maxwell, Perry, Percy, Melanie J
Publicado em 2011

A Gain-of-Function Mutation in the HIF2A Gene in Familial Erythrocytosis

Por Percy, Melanie J., Furlow, Paul W., Lucas, Guy S., Li, Xiping, Lappin, Terence R.J., McMullin, Mary Frances, Lee, Frank S.
Publicado em 2008

Erythrocytosis associated with a novel missense mutation in the HIF2A gene

Por van Wijk, Richard, Sutherland, Scott, Van Wesel, Annet C.W., Huizinga, Eric G., Percy, Melanie J., Bierings, Marc, Lee, Frank S.
Publicado em 2010

A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis

Por Percy, Melanie J., Zhao, Quan, Flores, Adrian, Harrison, Claire, Lappin, Terence R. J., Maxwell, Patrick H., McMullin, Mary Frances, Lee, Frank S.
Publicado em 2006

Erythrocytosis and Pulmonary Hypertension in a Mouse Model of Human HIF2A Gain of Function Mutation

Por Tan, Qiulin, Kerestes, Heddy, Percy, Melanie J., Pietrofesa, Ralph, Chen, Li, Khurana, Tejvir S., Christofidou-Solomidou, Melpo, Lappin, Terence R. J., Lee, Frank S.
Publicado em 2013

Is congenital secondary erythrocytosis/polycythemia caused by activating mutations within the HIF-2α iron-responsive element?

Por Percy, Melanie J., Sanchez, Mayka, Swierczek, Sabina, McMullin, Mary Frances, Mojica-Henshaw, Mariluz P., Muckenthaler, Martina U., Prchal, Josef T., Hentze, Matthias W.
Publicado em 2007

Erythrocytosis-associated HIF-2α Mutations Demonstrate a Critical Role for Residues C-terminal to the Hydroxylacceptor Proline

Por Furlow, Paul W., Percy, Melanie J., Sutherland, Scott, Bierl, Charlene, McMullin, Mary Frances, Master, Stephen R., Lappin, Terence R. J., Lee, Frank S.
Publicado em 2009

A new polycythaemia vera-associated SOCS3 SH2 mutant (SOCS3(F136L)) cannot regulate erythropoietin responses

Por Suessmuth, Yvonne, Elliott, Joanne, Percy, Melanie J., Inami, Mitsuharu, Attal, Hila, Harrison, Claire N., Inokuchi, Koiti, McMullin, Mary-Frances, Johnston, James A.
Publicado em 2009

Identification of high oxygen affinity hemoglobin variants in the investigation of patients with erythrocytosis

Por Percy, Melanie J., Butt, Nauman N., Crotty, Gerard M., Drummond, Mark W., Harrison, Claire, Jones, Gail L., Turner, Matthew, Wallis, Jonathan, McMullin, Mary Frances
Publicado em 2009

A Knock-in Mouse Model of Human PHD2 Gene-associated Erythrocytosis Establishes a Haploinsufficiency Mechanism

Por Arsenault, Patrick R., Pei, Fei, Lee, Rebecca, Kerestes, Heddy, Percy, Melanie J., Keith, Brian, Simon, M. Celeste, Lappin, Terence R. J., Khurana, Tejvir S., Lee, Frank S.
Publicado em 2013

MUTATIONS AND POLYMORPHISMS IN HEMOGLOBIN GENES AND THE RISK OF PULMONARY HYPERTENSION AND DEATH IN SICKLE CELL DISEASE

Por Taylor, James G., Ackah, Diana, Cobb, Crystal, Orr, Nick, Percy, Melanie J., Sachdev, Vandana, Machado, Roberto, Castro, Oswaldo, Kato, Gregory J., Chanock, Stephen J., Gladwin, Mark T.
Publicado em 2008

The role of PHD2 mutations in the pathogenesis of erythrocytosis

Por Gardie, Betty, Percy, Melanie J, Hoogewijs, David, Chowdhury, Rasheduzzaman, Bento, Celeste, Arsenault, Patrick R, Richard, Stéphane, Almeida, Helena, Ewing, Joanne, Lambert, Frédéric, McMullin, Mary Frances, Schofield, Christopher J, Lee, Frank S
Publicado no Hypoxia (Auckl) (2014)

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis

Por Percy, Melanie J., Beer, Philip A., Campbell, Gavin, Dekker, Ad W., Green, Anthony R., Oscier, David, Rainey, M. Glenn, van Wijk, Richard, Wood, Marion, Lappin, Terence R. J., McMullin, Mary Frances, Lee, Frank S.
Publicado em 2008

Two new mutations in the HIF2A gene associated with erythrocytosis()

Por Percy, Melanie J., Chung, Yu Jin, Harrison, Claire, Mercieca, Jane, Hoffbrand, A. Victor, Dinardo, Carla L., Santos, Paulo C.J.L., Fonseca, Guilherme H.H., Gualandro, Sandra F.M., Pereira, Alexandre C., Lappin, Terence R.J., McMullin, Mary Frances, Lee, Frank S.
Publicado em 2012

Mutation of von Hippel–Lindau Tumour Suppressor and Human Cardiopulmonary Physiology

Por Smith, Thomas G, Brooks, Jerome T, Balanos, George M, Lappin, Terence R, Layton, D. Mark, Leedham, Dawn L, Liu, Chun, Maxwell, Patrick H, McMullin, Mary F, McNamara, Christopher J, Percy, Melanie J, Pugh, Christopher W, Ratcliffe, Peter J, Talbot, Nick P, Treacy, Marilyn, Robbins, Peter A
Publicado em 2006