Sonic Hedgehog pathway is up regulated in adamantinomatous craniopharyngiomas.
Ribeirão Preto, Brazil. In Eur J Endocrinol, 18 Mar 2015
Patients & Methods: In 18 aCP samples, CTNNB1 was sequenced, and the mRNA expression levels of SHH pathway members (SHH, PTCH1, SMO, GLI1, GLI2, GLI3 and SUFU) and SMO, GLI1, GLI3, SUFU, beta-catenin, and Ki67 proteins were evaluated by qPCR and immunohistochemistry, respectively.
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Bethesda, United States. In Clin Immunol, 2013
The autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic hereditary "periodic fever syndromes", familial Mediterranean Fever (FMF); TNF receptor associated periodic syndrome (TRAPS); and mevalonate kinase deficiency/hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); 2. the cryopyrin associated periodic syndromes (CAPS), comprising familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID) or CINCA, and; 3. pediatric granulomatous arthritis (PGA); 4. disorders presenting with skin pustules, including deficiency of interleukin 1 receptor antagonist (DIRA); Majeed syndrome; pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome; deficiency of interleukin 36 receptor antagonist (DITRA); CARD14 mediated psoriasis (CAMPS), and early-onset inflammatory bowel diseases (EO-IBD); 5. inflammatory disorders caused by mutations in proteasome components, the proteasome associated autoinflammatory syndromes (PRAAS) and 6. very rare conditions presenting with autoinflammation and immunodeficiency.
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.
Padova, Italy. In Int J Rheumatol, 2012
To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, familial cold urticaria syndrome, Muckle-Wells syndrome, CINCA syndrome, mevalonate kinase deficiency, NLRP12-associated autoinflammatory disorder, Blau syndrome, early-onset sarcoidosis, PAPA syndrome, Majeed syndrome, and deficiency of the interleukin-1 receptor antagonist.
Monogenic causes of inflammatory disease in rheumatology.
Milwaukee, United States. In Curr Opin Rheumatol, 2012
Further study of well defined monogenic causes of inflammatory diseases, such as FMF, PAPA, TRAPS, and HIDS, has elucidated the pathophysiology of these diseases leading to targeted immunotherapy with anticytokine biological medications.
mRNA expression signature of Gleason grade predicts lethal prostate cancer.
Boston, United States. In J Clin Oncol, 2011
PATIENTS AND METHODS: Using the complementary DNA-mediated annealing, selection, extension, and ligation assay, we measured the mRNA expression of 6,100 genes in prostate tumor tissue in the Swedish Watchful Waiting cohort (n = 358) and Physicians' Health Study (PHS; n = 109).