Results 11 to 20 of about 24,062 (183)

PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse. [PDF]

PLoS ONE, 2011
Lesch-Nyhan disease (LND) is a severe X-linked neurological disorder caused by a deficiency of hypoxanthine phosphoribosyltransferase (HPRT). In contrast, HPRT-deficiency in the mouse does not result in the profound phenotypes such as self-injurious ...
Alaine C Keebaugh, Heather A Mitchell, Meriem Gaval-Cruz, Kimberly G Freeman, Gaylen L Edwards, David Weinshenker, James W Thomas   +6 more
doaj   +1 more source

Normal Uricemia in Lesch–Nyhan Syndrome and the Association with Pulmonary Embolism in a Young Child—A Case Report and Literature Review

Pediatrics and Neonatology, 2014
Deficiency of hypoxanthine phosphoribosyltransferase activity is a rare inborn error of purine metabolism with subsequent uric acid overproduction and neurologic presentations.
Jeng-Dau Tsai, Shan-Ming Chen, Chien-Heng Lin, Min-Sho Ku, Teng-Fu Tsao, Ji-Nan Sheu   +5 more
doaj   +1 more source

Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females [PDF]

Arquivos de Neuro-Psiquiatria, 1999
The mutation in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene has been determined in two brothers affected with Lesch-Nyhan syndrome. Female members of the family who are at risk for being heterozygous carriers of the HPRT mutation were ...
PATRICK O'NEILL, LUCY TROMBLEY, MARY GUNDEL, TIMOTHY HUNTER, JANICE A. NICKLAS, MARA LUCIA S. FERREIRA, MARIA JULIA BUGALLO, ANTÔNIO CARLOS FARIAS, ALFREDO LOHR, MERI DIAMANTOPOULOS, SALMO RASKIN   +10 more
doaj   +1 more source

Association between Cigarette Smoking and Hypoxanthine Guanine Phosphoribosyltransferase Activity

Kaohsiung Journal of Medical Sciences, 2005
The aim of this study was to investigate the association between smoking behavior and hypoxanthine guanine phosphoribosyltransferase (HGPRT) activity. A cross-sectional study was performed of 82 men, including 38 non-smokers and 44 smokers.
Shun-Jen Chang, Shiu-Min Chen, Shang-Lun Chiang, Kee-Lung Chang, Ying-Chin Ko   +4 more
doaj   +1 more source

Modulation of host glutamine anabolism enhances the sensitivity of small cell lung cancer to chemotherapy

Cell Reports, 2023
Summary: Small cell lung cancer (SCLC) is one of the deadliest human cancers, with a 5-year survival rate of ∼7%. Here, we performed a targeted proteomics analysis of human SCLC samples and thereby identified hypoxanthine phosphoribosyltransferase 1 ...
Manabu Kodama, Gouji Toyokawa, Osamu Sugahara, Shigeaki Sugiyama, Naoki Haratake, Yuichi Yamada, Reona Wada, Shinkichi Takamori, Mototsugu Shimokawa, Tomoyoshi Takenaka, Tetsuzo Tagawa, Hiroki Kittaka, Takeshi Tsuruda, Kentaro Tanaka, Yushiro Komatsu, Keisuke Nakata, Yuri Imado, Koji Yamazaki, Isamu Okamoto, Yoshinao Oda, Masatomo Takahashi, Yoshihiro Izumi, Takeshi Bamba, Hideyuki Shimizu, Tomoharu Yoshizumi, Keiichi I. Nakayama   +25 more
doaj   +1 more source

Induced pluripotent stem cells from subjects with Lesch-Nyhan disease

Scientific Reports, 2021
Lesch-Nyhan disease (LND) is an inherited disorder caused by pathogenic variants in the HPRT1 gene, which encodes the purine recycling enzyme hypoxanthine–guanine phosphoribosyltransferase (HGprt).
Diane J. Sutcliffe, Ashok R. Dinasarapu, Jasper E. Visser, Joery den Hoed, Fatemeh Seifar, Piyush Joshi, Irene Ceballos-Picot, Tejas Sardar, Ellen J. Hess, Yan V. Sun, Zhexing Wen, Michael E. Zwick, H. A. Jinnah   +12 more
doaj   +1 more source

Thermophilic phosphoribosyltransferases Thermus thermophilus HB27 in nucleotide synthesis

Beilstein Journal of Organic Chemistry, 2018
Phosphoribosyltransferases are the tools that allow the synthesis of nucleotide analogues using multi-enzymatic cascades. The recombinant adenine phosphoribosyltransferase (TthAPRT) and hypoxanthine phosphoribosyltransferase (TthHPRT) from Thermus ...
Ilja V. Fateev, Ekaterina V. Sinitsina, Aiguzel U. Bikanasova, Maria A. Kostromina, Elena S. Tuzova, Larisa V. Esipova, Tatiana I. Muravyova, Alexei L. Kayushin, Irina D. Konstantinova, Roman S. Esipov   +9 more
doaj   +1 more source

Temporal, Spatial and Tissue-Specific Expression of a Myogenin-lacZ Transgene Targeted to the Hprt Locus in Mice

BioTechniques, 1999
A lacZ transgene, expressed by the myogenin promoter, was introduced into the mouse hypoxanthine phosphoribosyltransferase (Hprt) locus by gene targeting in embryonic stem cells.
Jay L. Vivian, William H. Klein, Paul Hasty   +2 more
doaj   +1 more source

Identification of stable reference genes for quantitative gene expression analysis in the duodenum of meat-type ducks

Frontiers in Veterinary Science, 2023
Quantitative polymerase chain reaction (qPCR) is an important method to detect gene expression at the molecular level. The selection of appropriate housekeeping genes is the key to accurately calculating the expression level of target genes and ...
Fei Shui, Fei Shui, Guiru Qiu, Shenqiang Pan, Xin Wang, Xin Wang, Fumin Jia, Fumin Jia, Tingting Jiang, Yongsheng Li, Zhaoyu Geng, Zhaoyu Geng, Sihua Jin, Sihua Jin   +13 more
doaj   +1 more source

dGTP starvation in Escherichia coli provides new insights into the thymineless-death phenomenon.

PLoS Genetics, 2014
Starvation of cells for the DNA building block dTTP is strikingly lethal (thymineless death, TLD), and this effect is observed in all organisms. The phenomenon, discovered some 60 years ago, is widely used to kill cells in anticancer therapies, but many ...
Mark Itsko, Roel M Schaaper
doaj   +1 more source