نتایج جستجو برای: ptch1

تعداد نتایج: 516  

Journal: :Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology 2019

Journal: :Cancer cell 2011
Vahab D Soleimani Michael A Rudnicki

Rhabdomyosarcomas (RMSs) are the predominant soft-tissue tumors of children and adolescents (Arndt and Crist, 1999). These tumors are generally divided into alveolar rhabdomyosarcoma (aRMS) and embryonal rhabdomyosarcoma (eRMS) subtypes. Most aRMSs are the result of chromosomal translocations betweenPAX3 or PAX7 and FOXO1A genes, resulting in Pax3-FKHR and Pax7-FKHR fusion proteins (Tiffin et a...

Journal: :Acta dermato-venereologica 2015
Andrea Diociaiuti Alessandro Inserra Irene Fuertes De Vega Cristina Rota Tiziana Surrenti Loredana Giraldi Maria Rosaria Piemontese Isabella Giovannoni Francesco Callea May El Hachem

Fig. S2. Results of analysis for the PTCH1 mutation identified in the patient. DNA sequencing analysis showing the splice site mutation c.585-1G>A (denoted with arrow) in heterozygosis (A). RT-PCR analysis (B). A cDNA fragment (431 bp) was amplified with the forward primer Ex2cF:5’TAAAAGCAGCGAACCTCGAG-3’ and the reverse Ex6cR:5’-AAGTTTGTCCACCGCAAAGGA-3’ encompassing part of exon 2 (49 bp), exon...

Journal: :Journal of pediatric hematology/oncology 2016
Melissa D Mathias Alexander J Chou Paul Meyers Neerav Shukla Meera Hameed Narasimhan Agaram Lu Wang Michael F Berger Michael Walsh Alex Kentsis

Poorly differentiated round cell sarcomas present diagnostic challenges because of their variable morphology and lack of specific immunophenotypic markers. We present a case of a 15-year-old female with a tibial tumor that exhibited features of Ewing-like sarcoma, including apparent rearrangement of the EWSR1 gene. Hybridization capture-based next-generation DNA sequencing showed evidence of co...

2003
Zhilan Hu Jeannette M. Bonifas Geraldine Aragon Levy Kopelovich Yu Liang Shoichiro Ohta Mark A. Israel David R. Bickers Michelle Aszterbaum Ervin H. Epstein

Abnormal hedgehog signaling, most commonly caused by loss of PTCH1 inhibitor activity, drives tumorigenesis of basal cell carcinomas (BCCs). To assess whether other tumors also have abnormal hedgehog signaling, we have assayed RNA from common cancers at nine different sites for levels of expression of hedgehog target genes that are up-regulated uniformly in BCCs. We report here that such dysreg...

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