نتایج جستجو برای: ptch1

تعداد نتایج: 516  

2017
Cristina Pellegrini Maria Giovanna Maturo Lucia Di Nardo Valeria Ciciarelli Carlota Gutiérrez García-Rodrigo Maria Concetta Fargnoli

Basal cell carcinoma (BCC) is the most common human cancer and represents a growing public health care problem. Several tumor suppressor genes and proto-oncogenes have been implicated in BCC pathogenesis, including the key components of the Hedgehog pathway, PTCH1 and SMO, the TP53 tumor suppressor, and members of the RAS proto-oncogene family. Aberrant activation of the Hedgehog pathway repres...

2014
Mingxia Wang Shangling Zhu Weixiang Peng Qiuxia Li Zhaoxia Li Minqi Luo Xiaoxue Feng Zhuofeng Lin Jianlin Huang

Sonic hedgehog (Shh) signaling controls many aspects of human development, regulates cell growth and differentiation in adult tissues, and is activated in a number of malignancies. Rheumatoid arthritis (RA) is characterized by chronic synovitis and pannus formation associated with activation of fibroblast-like synoviocytes (FLS). We investigated whether Shh signaling plays a role in the prolife...

Journal: :Molecular cancer research : MCR 2013
Joon Won Yoon Marisa Gallant Marilyn L G Lamm Stephen Iannaccone Karl-Frederic Vieux Maria Proytcheva Elizabeth Hyjek Philip Iannaccone David Walterhouse

Although Hedgehog signaling plays a major role in GLI1 transcription, there is now evidence suggesting that other pathways/genes, such as c-MYC, may also regulate GLI1 expression. We initiated studies in Burkitt lymphoma cells, which constitutively express c-MYC due to a chromosomal translocation, to determine whether Hedgehog or c-MYC regulates GLI1 expression. We show that all Burkitt lymphom...

Journal: :American journal of medical genetics. Part A 2012
Eric A Muller Swaroop Aradhya Joan F Atkin Erin P Carmany Alison M Elliott Albert E Chudley Robin D Clark David B Everman Shannon Garner Bryan D Hall Gail E Herman Emma Kivuva Subhadra Ramanathan David A Stevenson David W Stockton Louanne Hudgins

Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (OMIM #109400) is a well-described rare autosomal dominant condition due to haploinsufficiency of PTCH1. With the availability of comparative genomic hybridization arrays, increasing numbers of individuals with microdeletions involving this locus are being identified. We present 10 previously unreported individuals with 9q22.3 dele...

Journal: :Radiation Research 2021

Neutron radiation, a high-linear energy transfer has high relative biological effectiveness (RBE) for various end points. The age at exposure is an important modifier of the effects including carcinogenesis, with infants being generally more radiosensitive. Ptch1+/– mice offer unique experimental system assessing radiation carcinogenesis. Spontaneous development medulloblastoma tumors occurs in...

Journal: :Journal of Investigative Dermatology 2023

Dysregulation of the Hedgehog (Hh) signaling pathway is implicated in development many cancers including BCC. PTCH1 and SMO are critical players Hh GLI1 transcriptional activator through which mediated. Mutation or have been shown to constitutively activate pathway. Active canonical Wnt has also be required for pathway–driven We previously identified a novel mechanism by regulates outcome signa...

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