Mutant AKT1 in Proteus Syndrome

New England Journal of Medicine

Volumn 365, Issue 22, 2011, Pages 2141-2142

  Marsh, Deborah J ^a   Trahair, Toby N ^b   Kirk, Edwin P ^b  

^a UNIVERSITY OF SYDNEY   (Australia)

^b SYDNEY CHILDREN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

MAMMALIAN TARGET OF RAPAMYCIN; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN KINASE B; RAPAMYCIN;

AKT1 GENE; ARTERIOVENOUS MALFORMATION; CLINICAL FEATURE; COWDEN SYNDROME; DISEASE ACTIVITY; ENZYME ACTIVATION; ENZYME REGULATION; GENE; GENE FUNCTION; GENE MUTATION; HUMAN; LETTER; LIPOMATOSIS; LOSS OF FUNCTION MUTATION; MULTIPLE CANCER; PRIORITY JOURNAL; PTEN GENE; SIGNAL TRANSDUCTION; TREATMENT DURATION; TREATMENT RESPONSE; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR GENE;

EID: 82555197079     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMc1111367     Document Type: Letter

References (5)

1. Lindhurst MJ, Sapp JC, Teer JK, et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 2011;365:611-9.
2. Smith JM, Kirk EP, Theodosopoulos G, et al. Germline mutation of the tumour suppressor PTEN in Proteus syndrome. J Med Genet 2002;39:937-40. (Pubitemid 36009159)
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4. Davies DM, Johnson SR, Tattersfield AE, et al. Sirolimus therapy in tuberous sclerosis or sporadic lymphangioleiomyomatosis. N Engl J Med 2008;358:200-3.
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