Zobrazeno 1 - 10
of 36
pro vyhledávání: '"PIK3R1 gene"'
Autor:
Matheus V. M. B. Wilke, Lisa Schimmenti, Madeline Q. R. Lopour, Megha M. Tollefson, Eric W. Klee
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
Abstract Background The PI3K/AKT pathway, extensively studied in cancer, is vital for regulating cell metabolism, differentiation, and proliferation. Pathogenic variants in the PIK3R1 gene, which encodes three regulatory units of class IA PI3Ks, have
Externí odkaz:
https://doaj.org/article/2b2a2d0ea75b48b8b7e22a61fb5d289f
Autor:
Shreya Chakraborty, V. Devi Rajeswari
Publikováno v:
Journal of Functional Foods, Vol 99, Iss , Pp 105296- (2022)
Diabetes mellitus, one of the major metabolic threats to human health has elevated drastically all along the twenty-first century. Insulin that is released by beta-cells of the pancreas is the primary hormone linked to diabetes, and it directs the fl
Externí odkaz:
https://doaj.org/article/3e7932f434d841fe80d48b0bed062a48
Autor:
Liying Sun, Qianwen Zhang, Qun Li, Yijun Tang, Yirou Wang, Xin Li, Niu Li, Jian Wang, Xiumin Wang
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
Abstract Background SHORT syndrome is a rare genetic disease named with the acronyms of short stature, hyper-extensibility of joints, ocular depression, Rieger anomaly and teething delay. It is inherited in an autosomal dominant manner confirmed by t
Externí odkaz:
https://doaj.org/article/19226a2d562a4da69d173cd62331ec97
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
SHORT syndrome is a rare autosomal dominant disorder characterized by multiple congenital defects and is historically defined by its acronym: short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and t
Externí odkaz:
https://doaj.org/article/afa261693ba4428f8be7c0ae71a0097d
Akademický článek
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Autor:
Irem Peker, Mustafa Akkiprik, Ipek Erbarut Seven, Bahadir M. Gulluoglu, Ebubekir Dirican, Handan Kaya, Ayşe Özer, M. Umit Ugurlu
Publikováno v:
Turkish Journal of Biochemistry. 45:515-523
Objective A high frequency of PI3K signalling pathway abnormalities and TP53 mutations are critical in the development and progression of breast cancer (BCa). We aimed to detect PIK3CA and TP53 mutations via an expression analysis of PIK3R1, PTEN and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1f7aa9ae633225ef3e7a2cf067a52f99
https://doi.org/10.1515/tjb-2019-0137
https://doi.org/10.1515/tjb-2019-0137
Autor:
Jian Wang, Yirou Wang, Xiumin Wang, Qun Li, Qianwen Zhang, Liying Sun, Xin Li, Niu Li, Yijun Tang
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
Background SHORT syndrome is a rare genetic disease named with the acronyms of short stature, hyper-extensibility of joints, ocular depression, Rieger anomaly and teething delay. It is inherited in an autosomal dominant manner confirmed by the identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b66733e4e1e25e2c3d8efd2f7fc3572c
http://europepmc.org/articles/PMC7603772
http://europepmc.org/articles/PMC7603772
Akademický článek
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Autor:
Eduardo López-Granados, J. Molina Garicano, R. Rodríguez Pena, L. del Pino Molina, Sixto García-Miñaur, M. Bravo García-Morato, F. Santos Simarro, A. Ferreira Cerdán
Publikováno v:
Clinical Immunology. 179:77-80
Mutations in PIK3R1 gene have been associated to two different conditions: a primary immunodeficiency, called APDS2, of recent description and SHORT syndrome. 47 patients with APDS2 have been reported to date, only one of them sharing both PIK3R1-rel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b00c2e3fc2236f742449368ecd3b95fb
https://doi.org/10.1016/j.clim.2017.03.004
https://doi.org/10.1016/j.clim.2017.03.004
Akademický článek
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