Zobrazeno 1 - 10
of 471
pro vyhledávání: '"pten gene"'
Publikováno v:
Heliyon, Vol 10, Iss 20, Pp e39481- (2024)
Epilepsy is a common chronic neurological disorder with high prevalence that profoundly affects millions of people worldwide. Inflammatory dysregulation affects central nervous system disorders including epilepsy, and YTHDF1, the most common ''reader
Externí odkaz:
https://doaj.org/article/7e06705ac29f48d8bd679d0d66f48f9f
Autor:
Glaucia Suzanna Jong-A-Liem, Talita Helena Martins Sarti, Mariusi Glasenapp dos Santos, Luciano Marcus Tirotti Giacon, Raphael Wuo-Silva, Alex Machado Baeta, José Maria de Campos Filho, Feres Chaddad-Neto
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
IntroductionMutations of the phosphatase and tensin homolog (PTEN) gene have been associated with a spectrum of disorders called PTEN hamartoma tumor syndrome, which predisposes the individual to develop various types of tumors and vascular anomalies
Externí odkaz:
https://doaj.org/article/268499df937e46cc8ced99ea4d93090e
Publikováno v:
Global Medical Genetics, Vol 10, Iss 04, Pp 345-347 (2023)
In the clinical practice, it is not common for pediatricians to visit children with overgrowth phenotype. When it happens, it is important to focus on the age of manifestations and research the pathogenic causes using appropriate genetic test. Cowden
Externí odkaz:
https://doaj.org/article/aebbdaf2a22b454fb740c89501661b88
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Laura Pena-Couso, María Ercibengoa, Fátima Mercadillo, David Gómez-Sánchez, Lucía Inglada-Pérez, María Santos, Javier Lanillos, David Gutiérrez-Abad, Almudena Hernández, Pablo Carbonell, Rocío Letón, Mercedes Robledo, Cristina Rodríguez-Antona, José Perea, Miguel Urioste, PHTS Working Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Background The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define the clinical and genetic characteristics of this syndrome in the Spanish population and to identify ne
Externí odkaz:
https://doaj.org/article/74028b0952a2495887a38ec95f063b00
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.
Autor:
Samuele Sutera, Daniela Francesca Giachino, Alessandra Pelle, Roberta Zuntini, Monica Pentenero
Publikováno v:
Biomedicines, Vol 11, Iss 1, p 81 (2022)
PTEN hamartoma tumor syndrome (PHTS), is a spectrum of disorders caused by mutations of PTEN, in which non-cancerous growths, called hamartomas, develop in different areas of the body, often including the oral mucosa. PHTS also implies a recognized i
Externí odkaz:
https://doaj.org/article/55b75fa1801d49d9b01c57e7166d35d2
Autor:
Giovanni Innella, Elena Bonora, Iria Neri, Annalucia Virdi, Alba Guglielmo, Laura Maria Pradella, Claudio Ceccarelli, Laura Benedetta Amato, Anna Lanzoni, Sara Miccoli, Giuseppe Gasparre, Roberta Zuntini, Daniela Turchetti
Publikováno v:
Frontiers in Medicine, Vol 8 (2021)
Germline PTEN pathogenic variants cause a spectrum of disorders collectively labeled PTEN Hamartoma Tumor Syndrome (PHTS) and featured by hamartomas, developmental anomalies and increased cancer risk. Studies on experimental models provided evidence
Externí odkaz:
https://doaj.org/article/e0d6a52a9f60439fa4722c5d36da1184
Autor:
Alaa Salah Jumaah, Hawraa Sahib Al-Haddad, Liwaa Hussein Mahdi, Emad Hatem, Asaad Abdul Hamza Al-Janabi, Katherine McAllister, Akeel Abed Yasseen
Publikováno v:
BMC Research Notes, Vol 12, Iss 1, Pp 1-6 (2019)
Abstract Objective Investigate PTEN gene expression and tumor aggressiveness in endometrial carcinoma specimens from patients living in either areas of depleted uranium [DU] pollution or unpolluted regions to determine any evidence for the effect of
Externí odkaz:
https://doaj.org/article/69381dcdb6044702bc0713b4a12b5130