Zobrazeno 1 - 10
of 231
pro vyhledávání: '"HPRT1"'
Publikováno v:
Linchuang shenzangbing zazhi, Vol 24, Iss 11, Pp 966-969 (2024)
Externí odkaz:
https://doaj.org/article/e4cf10f95c7b482aa89ec0fb5cb98d95
Autor:
Pengyu Geng, Fei Ye, Peng Dou, Chunxiu Hu, Jiarui He, Jinhui Zhao, Qi Li, Miao Bao, Xiangnan Li, Xinyu Liu, Guowang Xu
Publikováno v:
Journal of Experimental & Clinical Cancer Research, Vol 43, Iss 1, Pp 1-14 (2024)
Abstract Background The mutations of oncogenic epidermal growth factor receptor (EGFR) is an important cause of lung adenocarcinoma (LUAD) malignance. It has been knowm that metabolic reprogramming is an important hallmark of malignant tumors, and pu
Externí odkaz:
https://doaj.org/article/45faf18145df4198aa60bc3011df6119
Publikováno v:
Biomolecules & Biomedicine, Vol 24, Iss 2 (2024)
Hypoxanthine phosphoribosyl transferase 1 (HPRT1), once considered a housekeeping gene, has been identified as playing an important role in several tumors. Its role in pan-cancer, however, has not been systematically studied. This study evaluates the
Externí odkaz:
https://doaj.org/article/a059e0d7de244f1f9c27c741d5d27436
Autor:
Gayoung Jang, Ha Rim Shin, Hyo-Sang Do, Jiyeon Kweon, Soojin Hwang, Soyoung Kim, Sun Hee Heo, Yongsub Kim, Beom Hee Lee
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 31, Iss , Pp 586-595 (2023)
Lesch-Nyhan syndrome (LNS) is inherited as an X-linked recessive genetic disorder caused by mutations in hypoxanthine-guanine phosphoribosyl transferase 1 (HPRT1). Patients with LNS show various clinical phenotypes, including hyperuricemia, gout, dev
Externí odkaz:
https://doaj.org/article/eb6665589bc6414aa635932aaa3cb0f1
Publikováno v:
Heliyon, Vol 9, Iss 9, Pp e20174- (2023)
The mechanism of hypoxanthine-guanine phosphoribosyltransferase 1 (HPRT1) upregulation and its function in head and neck squamous cell carcinoma (HNSCC) remains obscure. Herein, the expression and function of HPRT1 and the mechanism underlying its up
Externí odkaz:
https://doaj.org/article/7079c0cebc304bc492a262ca27c072f8
Akademický článek
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Autor:
Khue Vu Nguyen
Publikováno v:
AIMS Neuroscience, Vol 9, Iss 2, Pp 175-215 (2022)
A heterozygous Arg393His point mutation at the reactive site of antithrombin (AT) gene causing thrombosis in a Vietnamese patient is reported and named as Arg393His in AT-Hanoi. The present variant is characterized by a severe reduction of functional
Externí odkaz:
https://doaj.org/article/1f5c51639c4a4885a406cbcd8a40b05c
Autor:
Albandary AlBakheet, Hanan AlQudairy, Joud Alkhalifah, Sheikhah Almoaily, Namik Kaya, Zuhair Rahbeeni
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
Background: Hypoxanthine-guanine phosphoribosyltransferase (HPRT1) deficiency is an inborn error of purine metabolism responsible for Lesch–Nyhan syndrome (LNS). The disease is inherited in an X-linked recessive manner and predominantly affects mal
Externí odkaz:
https://doaj.org/article/4e2c80f6c8d7492fb746d1f236332d6e
Autor:
Khue Vu Nguyen
Publikováno v:
AIMS Neuroscience, Vol 8, Iss 4, Pp 548-557 (2021)
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorders of purine metabolic in which the cytoplasmic enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. Despite having been characterized over 60 years ag
Externí odkaz:
https://doaj.org/article/87a45eae98444dcf8a8626b01e50e7e2
Autor:
Lianlian Yang, Hui Guo
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Lesch–Nyhan disease (LND) is a rare X-linked recessive disease caused by pathogenic mutations of the HPRT1 gene. The typical clinical manifestations include cerebral palsy, intellectual disability, dysarthria, self-injurious behavior, and gouty art
Externí odkaz:
https://doaj.org/article/79b6aa4ae6cd416ba3647be5180137af