Zobrazeno 1 - 10
of 202
pro vyhledávání: '"PTCH1 gene"'
Autor:
Naveed Muhammad, Abid Amina, Aziz Tariq, Saleem Ayesha, Hanif Nimra, Ali Imran, Alasmari Abdullah F.
Publikováno v:
Open Chemistry, Vol 22, Iss 1, Pp 66-71 (2024)
Epibulbar dermoid, benign tumors resulting from the improper function of the pathogenic protein Patched 1 (PTCH1), surgical interventions are employed to mitigate the lethal effects. However, these procedures often lead to complications such as scler
Externí odkaz:
https://doaj.org/article/da66fe6b35764aa495f11b5b736c1411
Publikováno v:
Archives of Plastic Surgery, Vol 50, Iss 04, Pp 384-388 (2023)
Gorlin–Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant disease characterized by multisystemic developmental defects caused by pathogenic variants such as patched-1 (PTCH1) gene variants and/or SUFU gene
Externí odkaz:
https://doaj.org/article/650f58e358d740609b15c1efa1ca1b75
Publikováno v:
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-5 (2022)
Abstract Background Epidermal nevus syndrome is a group of congenital neuroectodermal and/or mesodermal disorders characterized by the epidermal nevi in common association with cerebral, eye, skeletal, cardiovascular, and renal abnormalities. Epiderm
Externí odkaz:
https://doaj.org/article/7e678b235a8d4faea096352d287fd8bd
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Gozde Ozcan, Burhan Balta, Ahmet Ercan Sekerci, Osman A Etoz, Claudia Martinuzzi, Ozlem Kara, Lorenza Pastorino, Fatma Kocoglu, Omer Ulker, Murat Erdogan
Publikováno v:
Indian Journal of Pathology and Microbiology, Vol 59, Iss 3, Pp 335-338 (2016)
Gorlin–Goltz syndrome (GGS) is an uncommon autosomal dominant inherited disorder which comprises the triad of basal cell carcinomas (BCCs), odontogenic keratocysts, and musculoskeletal malformations. Besides this triad, neurological, ophthalmic, en
Externí odkaz:
https://doaj.org/article/ee2704a075ff4f6fa53566c1b8046d27
Autor:
Gulibaha Maimaitili, Jiuxiang Lin, Huizhe Huang, Chong Chen, Huaxiang Zhao, Zulihumaer Nueraihemaiti, Wenbin Huang, Wenjie Zhong, Dilifeire Tuerhong, Yue Zhang, Feng Chen, Qian Zhang, Mengqi Zhang
Publikováno v:
Genes and Diseases, Vol 8, Iss 5, Pp 689-697 (2021)
The Patched 1 (PTCH1) gene encodes a membrane receptor involved in the Hedgehog (Hh) signaling pathway, an abnormal state of which may result in congenital defects or human tumors. In this study, we conducted whole-exome sequencing on a three-generat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f843c7df087a2505bc2d15909ca2b9a5
https://doi.org/10.1016/j.gendis.2019.12.010
https://doi.org/10.1016/j.gendis.2019.12.010
Autor:
Michael Sharkey, Adam D. Ewing, Richard Walker, Seth W. Cheetham, Malcolm J. West, Kim M. Summers, James J McGill, Jennifer West
Publikováno v:
American Journal of Medical Genetics. Part a
Basal cell nevus syndrome (also known as Gorlin Syndrome; MIM109400) is an autosomal dominant disorder characterized by recurrent pathological features such as basal cell carcinomas and odontogenic keratocysts as well as skeletal abnormalities. Most
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee2c54516216e7a6dcf4f6fc3678f9b7
http://europepmc.org/articles/PMC8251932
http://europepmc.org/articles/PMC8251932
Autor:
Moon Woo Seong, Keunyoung Hur, Seong Jin Jo, Sung Sup Park, Man Jin Kim, Boram Kim, Jung Min Ko, Je-Ho Mun
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
Scientific Reports
Scientific Reports
Nevoid basal cell carcinoma syndrome (NBCCS) is mainly characterised by multiple basal cell carcinomas (BCCs) caused by PTCH1, PTCH2, and SUFU. However, clinical and genetic data on Asian NBCCS patients are limited. We aimed to analyse the clinical p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa1987b3e467a17918007d51b22e00d8
https://doaj.org/article/1ef064c1e12449ab94b18a2e93145e92
https://doaj.org/article/1ef064c1e12449ab94b18a2e93145e92
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.