Overgrowth Syndromes.
نویسندگان
چکیده
منابع مشابه
Genetic syndromes associated with overgrowth in childhood
Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific overgrowth disorders continue to improve clinicians' ability to make an accurate diagnosis. Among them, this paper introduces two classic genetic ov...
متن کاملGenetics of obesity and overgrowth syndromes.
Childhood overweight and obesity is highly prevalent within society. In the majority of individuals, weight gain is the result of exposure to an 'obesogenic' environment, superimposed on a background of genetic susceptibility brought about by evolutionary adaptation. These individuals tend to be tall in childhood with a normal final adult height, as opposed to those who have an underlying monog...
متن کاملPIK3CA, a hotspot for postzygotic mutations in nonhereditary overgrowth syndromes.
1. Yuan TL, Cantley LC. PI3K pathway alterations in cancer: variations on a theme. Oncogene 2008: 27: 5497–5510. 2. 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: 611–619. 3. Kurek KC, Luks VL, Ayturk UM et al. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet 2012: 90: 11...
متن کاملDifferential Diagnoses of Overgrowth Syndromes: The Most Important Clinical and Radiological Disease Manifestations
Overgrowth syndromes comprise a heterogeneous group of diseases that are characterized by excessive tissue development. Some of these syndromes may be associated with dysfunction in the receptor tyrosine kinase (RTK)/PI3K/AKT pathway, which results in an increased expression of the insulin receptor. In the current review, four overgrowth syndromes were characterized (Proteus syndrome, Klippel-T...
متن کاملPI3K Signaling in Tissue Hyper-Proliferation: From Overgrowth Syndromes to Kidney Cysts
The members of the PhosphoInositide-3 Kinase (PI3K) protein family are well-known regulators of proliferative signals. By the generation of lipid second messengers, they mediate the activation of AKT/PKB (AKT) and mammalian Target Of Rapamycin (mTOR) pathways. Although mutations in the PI3K/AKT/mTOR pathway are highly characterized in cancer, recent evidence indicates that alterations in the pr...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2003
ISSN: 0002-9297
DOI: 10.1086/367780