Results 61 to 70 of about 30,623 (153)

Genetic reduction of Serpine2/Pn-1 interferes with transcriptional silencing of the wild-type Ptch1 allele in Ptch1^Δ/+ mice resulting in reduced cell proliferation.

, 2015
(A) Quantitative analysis of transcripts from the wild-type Ptch1 allele. Expression of the wild-type Ptch1 allele is lost from all Ptch1Δ/+ PNLs by six weeks after birth (n = 8). In contrast, the wild-type Ptch1 allele remains expressed in 5 of 8 Ptch1Δ/
Alexandra Schwarzentruber-Schauerte (728283), Aimée Zuniga (728287), Stephan Frank (194052), Stefan Pfister (30190), Catherine Vaillant (9182), Johannes A. Lobrinus (728286), Marcel Kool (86792), Paola Valdivieso (728281), Hélène Méreau (728284), Rolf Zeller (223445), Sandro Nuciforo (728282), Erik Cabuy (728285)   +11 more
core   +1 more source

Alterations in candidate genes PHF2, FANCC, PTCH1 and XPA at chromosomal 9q22.3 region: Pathological significance in early- and late-onset breast carcinoma

Molecular Cancer, 2008
Introduction Younger women with breast carcinoma (BC) exhibits more aggressive pathologic features compared to older women; young age could be an independent predictor of adverse prognosis.
Roychoudhury Susanta, Roy Anup, Alam Neyaz, Singh Ratnesh K, Sinha Satyabrata, Panda Chinmay   +5 more
doaj   +1 more source

PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndrome [PDF]

, 2018
Basal cell nevus syndrome (BCNS) is an autosomal dominant disorder most commonly caused by a germline mutation in the PTCH1 gene. PTCH1 is known to have different isoforms with different functional properties and expression patterns among tissues.
Paulussen, Aimee D. C., Robbert-Jan C. A. M. Gielen, van Geel, Michel, Reinders, Marieke G. H. C., Michel van Geel, Marieke G. H. C. Reinders, Aimée D. C. Paulussen, Mosterd, Klara, Klara Mosterd, Koillinen, Hannele K., Hannele K. Koillinen, Gielen, Robbert-Jan C. A. M.   +11 more
core   +1 more source

A novel PTCH1 mutation in a patient with Gorlin syndrome [PDF]

, 2014
Gorlin syndrome is an autosomal dominant disorder characterized by a wide range of developmental abnormalities and a predisposition to various tumors, and it is linked to the alteration of several causative genes, including PTCH1.
イモト, イッセイ, 30258610, 成戸, 卓也, Komori, Takahide, Naruto, Takuya, Kohmoto, Tomohiro, コウモト, トモヒロ, ナルト, タクヤ, 686, 444, コモリ, タカヒデ, オカモト, ナナ, 60438124, 井本, 逸勢, Okamoto, Nana, Imoto, Issei   +15 more
core  

Localization of Hedgehog-signaling pathway receptors PTCH1, PTCH2 and SMO.

, 2016
(A) PTCH1 was localized on PC of normal epithelial cells while (B) PTCH2 and (C) SMO were mostly present in stromal PC of pancreatic ductal adenocarcinoma.
Nigora Dadabaeva (3269688), Frank Bergmann (54891), Jens Werner (135131), Oliver Strobel (3269691), Simon Schimmack (487257), Thilo Hackert (3269697), Andrew Taylor (135110), Sarah Kneller (3269694)   +7 more
core   +1 more source

Linear basal cell nevus with a novel mosaic PTCH1 mutation.

, 2020
The patched tumor suppressor gene (PTCH1) encodes a receptor, which is a key component of the hedgehog signalling pathway. Mutations in PTCH1 are implicated in the development of sporadic basal cell carcinomas (BCC), as well as those in Gorlin Syndrome ...
McGuinn, Kathleen P, Cohen-Nowak, Adam, Nikbakht, Neda, Vahidnezhad, Hassan, Dasgeb, Bahar, Niaziorimi, Fatemeh, O\u27Donnell, Megan, Shalabi, Doaa, Uitto, Jouni, Youssefian, Leila, Lee, MD, Jason B., Kasper, David A, Saeidian, Amir Hossein   +12 more
core  

Nanog-driven cell-reprogramming and self-renewal maintenance in Ptch1 +/− granule cell precursors after radiation injury

, 2017
Medulloblastoma (MB) is the most common pediatric brain tumor, comprising four distinct molecular variants, one of which characterized by activation of the Sonic Hedgehog (SHH) pathway, driving 25-30% of sporadic MB.
Pasquali, Emanuela, Babini, Gabriele, Simona Leonardi, Barbara Tanno, De Stefano, Ilaria, Mancuso, Mariateresa, Mariateresa Mancuso, Emanuela Pasquali, Saran, Anna, Gabriele Babini, Anna Saran, Tanno, Barbara, Ilaria De Stefano, Leonardi, Simona, Paola Giardullo, Saran, A., Giardullo, Paola, Leonardi, S., Tanno, B., Mancuso, M., Pasquali, E.   +20 more
core   +1 more source

Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome

Case Reports in Genetics, 2019
Gorlin syndrome is mainly caused by pathogenic germline variants in the tumour suppressor genes PTCH1 and SUFU, both regulatory genes in the hedgehog pathway. However, the phenotypes of patients with PTCH1 and SUFU pathogenic variants seem to differ.
Gustav Askaner, Ulrikke Lei, Birgitte Bertelsen, Alessandro Venzo, Karin Wadt   +4 more
doaj   +1 more source

Role of the miR-17∼92 cluster family in cerebellar and medulloblastoma development

Biology Open, 2014
The miR-17∼92 cluster family is composed of three members encoding microRNAs that share seed sequences. To assess their role in cerebellar and medulloblastoma (MB) development, we deleted the miR-17∼92 cluster family in Nestin-positive neural progenitors
Frederique Zindy, Daisuke Kawauchi, Youngsoo Lee, Olivier Ayrault, Leila Ben Merzoug, Peter J. McKinnon, Andrea Ventura, Martine F. Roussel   +7 more
doaj   +1 more source

Table 1.SMO and PTCH1 Mutations in 39 Gastric Tumors.

, 2013
Table 1.SMO and PTCH1 Mutations in 39 Gastric Tumors.
Han Chang (101808), Hector Inzunza (101800), Zhenhao Qi (101818), Daniel Malone (101835), John Cogswell (101846), Beihong Hu (101825), Xi-De Wang (42216)   +6 more
core   +1 more source