Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 172, Issue 4, 2016, Pages 402-421

  Keppler Noreuil, Kim M ^a,b   Parker, Victoria E R ^c   Darling, Thomas N ^d   Martinez Agosto, Julian A ^e  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^d UNIFORMED SERVICES UNIVERSITY OF THE HEALTH SCIENCES   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

PI3K AKT mTOR pathway; segmental overgrowth; somatic mosaicism; therapy

Indexed keywords

ACETYLSALICYLIC ACID; MAMMALIAN TARGET OF RAPAMYCIN INHIBITOR; METFORMIN; PHOSPHATIDYLINOSITOL 3 KINASE INHIBITOR; PROTEIN KINASE B INHIBITOR; MTOR PROTEIN, HUMAN; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN KINASE B; TARGET OF RAPAMYCIN KINASE;

AKT1 GENE; CLINICAL FEATURE; COMBINATION CHEMOTHERAPY; DRUG EFFICACY; DRUG SAFETY; GENE; GENE FUNCTION; GENETIC DISORDER; HEALTH CARE DISPARITY; HUMAN; MAMMALIAN TARGET OF RAPAMYCIN RELATED DISORDER; MOSAICISM; MTOR GENE; MULTIPLE CANCER; NONHUMAN; PATHOGENESIS; PHASE 1 CLINICAL TRIAL (TOPIC); PHASE 2 CLINICAL TRIAL (TOPIC); PHASE 3 CLINICAL TRIAL (TOPIC); PIK3CA GENE; PIK3CA RELATED OVERGROWTH SPECTRUM; PRIORITY JOURNAL; PTEN GENE; PTEN HAMARTOMA TUMOR SYNDROME; REVIEW; SIGNAL TRANSDUCTION; SOMATIC MUTATION; TSC1 GENE; TSC2 GENE; TUBEROUS SCLEROSIS; COMPLICATION; GENETICS; GROWTH DISORDER; METABOLISM; MUTATION;

GROWTH DISORDERS; HUMANS; MUTATION; PHOSPHATIDYLINOSITOL 3-KINASE; PROTO-ONCOGENE PROTEINS C-AKT; SIGNAL TRANSDUCTION; TOR SERINE-THREONINE KINASES;

EID: 85002544846     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31531     Document Type: Review

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