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Items: 1 to 20 of 127

1.
PTCH1-mutant human cerebellar organoids exhibit altered neural development and recapitulate early medulloblastoma tumorigenesis
Max J. van Essen, Elizabeth J. Apsley, Joey Riepsaame, Ruijie Xu, Paul A. Northcott, Sally A. Cowley, John Jacob, Esther B. E. Becker
Dis Model Mech. 2024 Feb 1; 17(2): dmm050323. Published online 2024 Feb 27. doi: 10.1242/dmm.050323
PMCID:
PMC10924233
Article
2.
PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico
Marianela Zambrano‐Román, Jorge R. Padilla‐Gutiérrez, Yeminia Valle, José F. Muñoz‐Valle, Elizabeth Guevara‐Gutiérrez, Diana Emilia Martínez‐Fernández, Emmanuel Valdés‐Alvarado
J Clin Lab Anal. 2024 Feb; 38(3): e25010. Published online 2024 Jan 29. doi: 10.1002/jcla.25010
PMCID:
PMC10873687
ArticlePDF–1.6M
3.
肋骨分叉-基底细胞痣-颌骨囊肿综合征两家系基因序列变异分析
彭 笑, 陈 默, 王 栋, 韩 瑞, 高 廷益, 刘 亮, 刘 畅, 张 凯
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Apr 25; 52(2): 223–229. Chinese. doi: 10.3724/zdxbyxb-2022-0492
PMCID:
PMC10409912
ArticlePDF–4.5M
4.
New insight into the role of PTCH1 protein in serous ovarian carcinomas
Valentina Karin-Kujundzic, Adriana Covarrubias-Pinto, Anita Skrtic, Semir Vranic, Ljiljana Serman
Int J Oncol. 2022 Dec; 61(6): 145. Published online 2022 Oct 5. doi: 10.3892/ijo.2022.5435
PMCID:
PMC9581113
ArticlePDF–2.5M
5.
Prevalence of medulloblastoma in basal cell nevus syndrome patients with a PTCH1 mutation
Babette J A Verkouteren, Betül Cosgun, R Jeroen Vermeulen, Marie G H C Reinders, Michel van Geel, Johan J P Gille, Klara Mosterd
Neuro Oncol. 2021 Jun; 23(6): 1035–1036. Published online 2021 Mar 17. doi: 10.1093/neuonc/noab048
PMCID:
PMC8168812
ArticlePDF–63K
6.
Intracardiac tumor as a rare manifestation of genetic syndromes—presentation of a family with Gorlin syndrome and a literature review
Krzysztof Szczałuba, Ewa Makuła, Anna Piórecka-Makuła, Justyna Sicińska, Małgorzata Rydzanicz, Piotr Gasperowicz, Rafał Płoski, Bożena Werner
J Appl Genet. 2020; 61(4): 559–565. Published online 2020 Sep 22. doi: 10.1007/s13353-020-00582-4
PMCID:
PMC7652740
ArticlePDF–878K
7.
Association between PTCH1 gene polymorphisms and chronic obstructive pulmonary disease susceptibility in a Chinese Han population: a case-control study
Xi Kang, Ting Guo, Lyu Liu, Shui-Zi Ding, Cheng Lei, Hong Luo
Chin Med J (Engl) 2020 Sep 5; 133(17): 2071–2077. Published online 2020 Aug 5. doi: 10.1097/CM9.0000000000000858
PMCID:
PMC7478574
ArticlePDF–398K
8.
Hedgehog Signaling: From Basic Biology to Cancer Therapy
Fujia Wu, Yu Zhang, Bo Sun, Andrew P. McMahon, Yu Wang
Cell Chem Biol. Author manuscript; available in PMC 2020 Aug 21.
Published in final edited form as: Cell Chem Biol. 2017 Mar 16; 24(3): 252–280. Published online 2017 Mar 9. doi: 10.1016/j.chembiol.2017.02.010
PMCID:
PMC7442121
ArticlePDF–1.8M
9.
Biallelic PTCH1 Inactivation Is a Dominant Genomic Change in Sporadic Keratocystic Odontogenic Tumors
Ivan J. Stojanov, Inga-Marie Schaefer, Reshma S. Menon, Jay Wasman, Hamza N. Gokozan, Elizabeth P. Garcia, Dale A. Baur, Sook-Bin Woo, Lynette M. Sholl
Am J Surg Pathol. Author manuscript; available in PMC 2020 Apr 1.
Published in final edited form as: Am J Surg Pathol. 2020 Apr; 44(4): 553–560. doi: 10.1097/PAS.0000000000001407
PMCID:
PMC7071995
ArticlePDF–1.3M
10.
Mutation of the PTCH1 gene predicts recurrence of breast cancer
Chih-Yang Wang, Yung-Chieh Chang, Yao-Lung Kuo, Kuo-Ting Lee, Pai-Sheng Chen, Chun Hei Antonio Cheung, Chih-Peng Chang, Nam Nhut Phan, Meng-Ru Shen, Hui-Ping Hsu
Sci Rep. 2019; 9: 16359. Published online 2019 Nov 8. doi: 10.1038/s41598-019-52617-4
PMCID:
PMC6841698
ArticlePDF–3.9M
11.
Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene
Paolo Prontera, Daniela Rogaia, Ester Sallicandro, Amedea Mencarelli, Valentina Imperatore, Gabriella Maria Squeo, Giuseppe Merla, Sandro Elisei, Danilo Moretti-Ferreira, Susanna Esposito, Gabriela Stangoni
Eur J Hum Genet. 2019 Aug; 27(8): 1260–1266. Published online 2019 Apr 1. doi: 10.1038/s41431-019-0385-6
PMCID:
PMC6777447
ArticlePDF–919K
12.
Structural basis of sterol recognition by human hedgehog receptor PTCH1
Chao Qi, Giulio Di Minin, Irene Vercellino, Anton Wutz, Volodymyr M. Korkhov
Sci Adv. 2019 Sep; 5(9): eaaw6490. Published online 2019 Sep 18. doi: 10.1126/sciadv.aaw6490
PMCID:
PMC6750913
ArticlePDF–1.1M
13.
Loss of the PTCH1 tumor suppressor defines a new subset of plexiform fibromyxoma
Sudeep Banerjee, Christopher L. Corless, Markku M. Miettinen, Sangkyu Noh, Rowan Ustoy, Jessica L. Davis, Chih-Min Tang, Mayra Yebra, Adam M. Burgoyne, Jason K. Sicklick
J Transl Med. 2019; 17: 246. Published online 2019 Jul 30. doi: 10.1186/s12967-019-1995-z
PMCID:
PMC6668176
ArticlePDF–963K
14.
Nevoid Basal Cell Carcinoma Syndrome: PTCH1 Mutation Profile and Expression of Genes Involved in the Hedgehog Pathway in Argentinian Patients
Maria Florencia Martinez, Maria Vanesa Romano, Alfredo Pedro Martinez, Abel González, Carolina Muchnik, Fernando Miguel Stengel, Luis Daniel Mazzuoccolo, Pablo Javier Azurmendi
Cells. 2019 Feb; 8(2): 144. Published online 2019 Feb 11. doi: 10.3390/cells8020144
PMCID:
PMC6406887
ArticlePDF–2.0M
15.
Whole‐exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data
D. Matthew Gianferante, Melissa Rotunno, Michael Dean, Weiyin Zhou, Belynda D. Hicks, Kathleen Wyatt, Kristine Jones, Mingyi Wang, Bin Zhu, Alisa M. Goldstein, Lisa Mirabello
Mol Genet Genomic Med. 2018 Nov; 6(6): 1168–1180. Published online 2018 Nov 8. doi: 10.1002/mgg3.498
PMCID:
PMC6305672
ArticlePDF–719K
16.
New mutations and an updated database for the patched‐1 (PTCH1) gene
Marie G. Reinders, Antonius F. van Hout, Betûl Cosgun, Aimée D. Paulussen, Edward M. Leter, Peter M. Steijlen, Klara Mosterd, Michel van Geel, Johan J. Gille
Mol Genet Genomic Med. 2018 May; 6(3): 409–415. Published online 2018 Mar 25. doi: 10.1002/mgg3.380
PMCID:
PMC6014442
ArticlePDF–420K
17.
Patched 1 Expression Correlates with Biochemical Relapse in High-Risk Prostate Cancer Patients
Annelies Gonnissen, Sofie Isebaert, Christiaan Perneel, Chad M. McKee, Filip Van Utterbeeck, Evelyne Lerut, Clare Verrill, Richard J. Bryant, Steven Joniau, Ruth J. Muschel, Karin Haustermans
Am J Pathol. 2018 Mar; 188(3): 795–804. doi: 10.1016/j.ajpath.2017.11.019
PMCID:
PMC5840486
Article
18.
Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia
Vesna Musani, Petar Ozretić, Diana Trnski, Maja Sabol, Sanja Poduje, Mateja Tošić, Mirna Šitum, Sonja Levanat
Croat Med J. 2018 Feb; 59(1): 20–24. doi: 10.3325/cmj.2018.59.20
PMCID:
PMC5833102
ArticlePDF–235K
19.
PTCH1 is a reliable marker for predicting imatinib response in chronic myeloid leukemia patients in chronic phase
Juan M. Alonso-Dominguez, Luis Felipe Casado, Eduardo Anguita, Maria Teresa Gomez-Casares, Ismael Buño, Francisca Ferrer-Marín, Alicia Arenas, Rafael Del Orbe, Rosa Ayala, Pilar Llamas, Rocio N. Salgado, Santiago Osorio, Pedro Sanchez-Godoy, Carmen Burgaleta, Ignacio Mahíllo-Fernández, Valentin Garcia-Gutierrez, Juan Luis Steegmann, Joaquín Martinez-Lopez
PLoS One. 2017; 12(7): e0181366. Published online 2017 Jul 13. doi: 10.1371/journal.pone.0181366
PMCID:
PMC5509313
ArticlePDF–1.6M
20.
Regulation of human PTCH1b expression by different 5' untranslated region cis-regulatory elements
Petar Ozretić, Alessandra Bisio, Vesna Musani, Diana Trnski, Maja Sabol, Sonja Levanat, Alberto Inga
RNA Biol. 2015 Mar; 12(3): 290–304. Published online 2015 Mar 31. doi: 10.1080/15476286.2015.1008929
PMCID:
PMC4615190
ArticlePDF–943K

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