| Identification of rare variants in PTCH2 associated with non-syndromic orofacial clefts. | Identification of rare variants in PTCH2 associated with non-syndromic orofacial clefts.
Liang X, He Q, Jiao Y, Yang H, Huang W, Liu K, Lin H, Xu L, Hou Y, Ding Y, Zhang Y, Huang H, Zhao H. | 03/29/2024 |
| Reduced PTCH2 expression is associated with glioma development through its regulation of the PTEN/AKT signaling pathway. | Reduced PTCH2 expression is associated with glioma development through its regulation of the PTEN/AKT signaling pathway.
Han J, Deng H, Xiong Y, Xia X, Bao C, Chen L, Zhao Q, Zhong S, Peng L, Zhong C. | 09/24/2022 |
| PTCH2 is not a strong candidate gene for gorlin syndrome predisposition. | PTCH2 is not a strong candidate gene for gorlin syndrome predisposition.
Smith MJ, Evans DG., Free PMC Article | 06/25/2022 |
| Inherited rare and common variants in PTCH1 and PTCH2 contributing to the predisposition to reproductive cancers. | Inherited rare and common variants in PTCH1 and PTCH2 contributing to the predisposition to reproductive cancers.
Yang XH, Xu BH, Zhou DL, Long YK, Liu Q, Huang C, Ye ZL, He CY. | 02/12/2022 |
| [Exploring parent-of-origin effects for non-syndromic cleft lip with or without cleft palate on PTCH1, PTCH2, SHH, SMO genes in Chinese case-parent trios]. | [Exploring parent-of-origin effects for non-syndromic cleft lip with or without cleft palate on PTCH1, PTCH2, SHH, SMO genes in Chinese case-parent trios].
Li WY, Wang MY, Zhou R, Wang SY, Zheng HC, Zhu HP, Zhou ZB, Wu T, Wang H, Shi B., Free PMC Article | 10/24/2020 |
| Pds5b/Ptch2 axis regulates cell proliferation and invasion in pancreatic tumor cells. | PDS5B regulates cell proliferation and motility via upregulation of Ptch2 in pancreatic cancer cells.
Ma J, Cui Y, Cao T, Xu H, Shi Y, Xia J, Tao Y, Wang ZP. | 05/30/2020 |
| The importance of the ATRX/DAXX pathway was confirmed by the first-ever pancreatic neuroendocrine neoplasms (pNEN)-specific protein-damaging hotspot mutation in DAXX. In this study, both novel genes, including the pro-apoptotic CYFIP2 gene and hedgehog signaling PTCH2, and novel pathways, such as the MAPK-ERK pathway, were implicated in pNEN. | Hotspot DAXX, PTCH2 and CYFIP2 mutations in pancreatic neuroendocrine neoplasms.
Vandamme T, Beyens M, Boons G, Schepers A, Kamp K, Biermann K, Pauwels P, De Herder WW, Hofland LJ, Peeters M, Van Camp G, Op de Beeck K. | 03/7/2020 |
| Our data extend these observations and demonstrate a significant increase in Ptch2 expression in the obstructive UPJ segments in a subset of patients with congenital UPJO. | Activated Hedgehog-GLI Signaling Causes Congenital Ureteropelvic Junction Obstruction.
Sheybani-Deloui S, Chi L, Staite MV, Cain JE, Nieman BJ, Henkelman RM, Wainwright BJ, Potter SS, Bagli DJ, Lorenzo AJ, Rosenblum ND., Free PMC Article | 07/13/2019 |
| Combined heterozygous germline mutations in PTCH1 and PTCH2 were identified in a patient with embryonal rhabdomyosarcoma. | Congenital embryonal rhabdomyosarcoma caused by heterozygous concomitant PTCH1 and PTCH2 germline mutations.
Taeubner J, Brozou T, Qin N, Bartl J, Ginzel S, Schaper J, Felsberg J, Fulda S, Vokuhl C, Borkhardt A, Kuhlen M., Free PMC Article | 12/22/2018 |
| Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. | Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.
Fujii K, Ohashi H, Suzuki M, Hatsuse H, Shiohama T, Uchikawa H, Miyashita T. | 07/5/2014 |
| A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation are reported. | A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation.
Fan Z, Du J, Liu H, Zhang H, Dlugosz AA, Wang CY, Fan M, Shen Y, Wang S. | 01/21/2010 |
| Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator) | Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk.
Michiels S, Laplanche A, Boulet T, Dessen P, Guillonneau B, Méjean A, Desgrandchamps F, Lathrop M, Sarasin A, Benhamou S. | 03/25/2009 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesMaternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, Christensen K, Boyles AL, Daack-Hirsch S, Nguyen TT, Christiansen L, Lidral AC, Murray JC. [Studies on keratocystic odontogenic tumors].
Li TJ, Sun LS, Luo HY, Yuan JW, Gao L, Gu XM, Li XF, Xu LL. | 03/25/2009 |
| PTCH2 (2157G-->A), a novel missense mutation, underlies NBCCS, resulting in the loss of PTCH2 inhibitory function in the Shh signalling pathway. | A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family.
Fan Z, Li J, Du J, Zhang H, Shen Y, Wang CY, Wang S. | 01/21/2010 |
| PTCH2 isoforms have distinct roles in Hedgehog signalling. | Distinct roles of PTCH2 splice variants in Hedgehog signalling.
Rahnama F, Toftgård R, Zaphiropoulos PG., Free PMC Article | 01/21/2010 |