Results 111 to 120 of about 51,129 (240)

Data supporting the design and evaluation of a universal primer pair for pseudogene-free amplification of HPRT1 in real-time PCR

Data in Brief, 2015
Hypoxanthine-guanine phosphoribosyltransferase 1 (HPRT1) is a common housekeeping gene for sample normalization in the quantitative reverse transcriptase polymerase chain (qRT-PCR).
Reza Valadan, Akbar Hedayatizadeh-Omran, Mahdyieh Naghavi Alhosseini-Abyazani, Omolbanin Amjadi, Alireza Rafiei, Mohsen Tehrani, Reza Alizadeh-Navaei   +6 more
doaj   +1 more source

Concentration and synthesis of phosphoribosylpyrophosphate in erythrocytes from normal, hyperuricemic, and gouty subjects. [PDF]

, 1971
Phosphoribosylpyrophosphate (PRPP) synthetase activity and the intracellular concentration of PRPP were assayed in erythrocytes from patients with primary hyperuricemia and primary metabolic gout.
Meyskens, FL, Williams, HE
core  

Hypoxanthine-guanine phosphoribosyltransferase deficiency

Definitions, 2020
D. Metze, V. F. Cury, Ricardo S. Gomez, L. Marco, Dror Robinson, Eitan Melamed, Alexander K. C. Leung, Jae-Hwan Nam, Yoichi Matsubara, Keiya Tada, S. Sancak, Ralf Paschke, S. Kupka, Stefan K. Plontke, Hans-Peter Zenner, G. Azhar, Jeanne Y. Wei, Y. Kang, Katsuhiko Yoshizawa, Abraham Nyska, Graeme Jones, Kathy Triantafilou, P. Lepper, Johannes G. Bode, C. Kashtan, Klaus Schümann, Günter Weiss, C. Skerka, Christoph Licht, P. Zipfel, H. Cate, Mark Oette, D. Häussinger, Isabelle Ruel, P. Couture, Benoît Lamarche, S. Siegmund, Stephan L. Haas, Manfred V. Singer, Tobias Heintges, Ralf Kubitz, Andreas Erhardt, F. Lammert, J. Lorenzen, Hubert E. Blum, Darius Moradpour, Georg H. Merker, Matthias Wettstein, Mónica Guevara, Pere Ginés, H. Cate, Ulrich Heininger, Markus Pfister, M. Schmitt, A. Schinkel, D. Poldermans, Jeroen J. Bax, Heimo Mairbäurl, Peter Bärtsch, Georg H. Merker, Percy Chiu, R. Legro, W. L. Nyhan, Sandeep S. Dave, Jürgen Kohlhase, A. Dielis, S. Harvey Mudd, Christian Simon, Oliver Schildgen, S. L. Sternak, G. Mlinarić‐Galinović, Eggert Stockfleth, I. Nindl, Inga Zerr, Mathias Bähr, N. Stankus, Katrin S. Lindenberg, G. Bernhard Landwehrmeyer, Jonas Denecke, S. Katsuragi, B. Grimbacher, C. Woellner, Steven Holland, Christian A. Koch, Michael T. Geraghty, Peter L. M. Jansen, Robert P. Whitehead, Edward M. Brown, Mei Bai, T. Martin, Joaquin Escribano, Victor M. Garca Nieto, Patrick T. S. Ma, Lucia K. Ma, Alexander K. C. Leung, Angelika F. Hahn, M. Nallegowda, Upinderpal Singh, M. Umapathi, Rakesh Kumar, R. Badolato, Benjamin Glaser, R. Schreiber, Daniel Landau, Goo Taeg Oh, C. Kallen, J. Topf, Patrick Murray, Jaime Tejedor, Manish Kumar Varshney, K. Suphapeetiporn, V. Shotelersuk, Bernd Hoppe, Albrecht Hesse, Geoffrey N. Hendy, David E. C. Cole, Charles R. Nolan, H. Shintaku, Hiroshi Ichinose, H. Mankin, G. Uwaifo, Bettina C. Reulecke, Werner Heppt, A. Cryer, Radoslav Tomić, Jesse Roman, J. Rémi, S. Noachtar, M. Nagase, Toshiro Fujita, Á. Cogolludo, Jason X.-J. Yuan, Lewis J. Rubin, Manning R. Davis, T. Poduval, Saurabh Chatterjee, H. Gozu, Markus Eszlinger, R. Bircan, J. Lüblinghoff, Julia Lüblighoff, Roland Pfäffle, S. Zhao, Hui-jun Ye, J. Mogensen, R. Kebudi, Sezer Saglam, Michael A. Becker, J. Asplin, R. Gotshall, H. Scharnagl, Winfried März, J. A. Sayer, Simon H.S. Pearce, James Paparello, P. Klemmer, Abhijit V. Kshirsagar, Patrick T. S. Ma, Lucia K. Ma, Marco Castori, Roswitha Siener, P. Habermehl, M. Knuf, Christoph Michalski, J. Kleeff, Annette Richter-Unruh, Denis J. Headon, P. Overbeek, Alanna F. Bree, Hendrica Belge, Eva Riveira-Munoz, Olivier Devuyst, Stefanie Weber, M. Moritz, J. Ayus, Simon H.S. Pearce, Michael P. Whyte, Masafumi Fukagawa, Motoko Tanaka, H. Tenenhouse, A. Gutenberg, Patrizio Caturegli, C. Oswalt, Pirooz Eghtesady, M. Suneja, Christie P. Thomas, H. Sasaki, T. Yukioka, Maurice van Steensel, R. Wu, Ping Wang, G. Feuerstein, R. Ruffolo, H. Jinnah, James C. Harris, Holger K. Eltzschig, A. Grenz   +196 more
semanticscholar   +1 more source

Оцінювання мутагенної активності епоксидвмісних поліоксипропілентріолів у короткотривалих експериментах із використанням тканинних культур і бактерій [PDF]

, 2015
Introduction. Many chemicals polluting the environment can exert a specific impact on the body with significant general toxic effects, manifested not in the period of exposure and not immediately after it, but in remote periods in the life of individuals,
Кучерявенко, М.А.
core  

Yeast GMP Kinase Mutants Constitutively Express AMP Biosynthesis Genes by Phenocopying a Hypoxanthine-Guanine Phosphoribosyltransferase Defect [PDF]

, 2000
Karine Lecoq, Manfred Konrad, Bertrand Daignan‐Fornier   +2 more
openalex   +1 more source

Hypoxanthine phosphoribosyltransferase from Trypanosoma cruzi as a target for structure-based inhibitor design: crystallization and inhibition studies with purine analogs [PDF]

, 1997
Ann E. Eakin, Ángela Patricia Guerra, Pamela J. Focia, Jan Torres‐Martinez, Sydney P. Craig   +4 more
openalex   +1 more source

Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome. [PDF]

, 1989
Shin Fujimori, Beverly L. Davidson, William N. Kelley, T D Palella   +3 more
openalex   +1 more source

Whole Exome Sequencing Facilitates Early Diagnosis of Lesch–Nyhan Syndrome: A Case Series

Diagnostics
Background: Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by mutations in the HPRT1 gene, resulting in hypoxanthine–guanine phosphoribosyltransferase (HPRT) deficiency.
Hung-Hsiang Fang, Chung-Lin Lee, Hui-Ju Chen, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin   +9 more
doaj   +1 more source

A Review on Lesch-Nyhan Syndrome: A Rare Inherited Disorder with Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

, 2023
Nikhilesh Andhi
openalex   +1 more source

Hypoxanthine Regulation of Oocyte Maturation in the Mouse: Insights Using Hypoxanthine Phosphoribosyltransferase-Deficient Animals1 [PDF]

, 1997
Stephen M. Downs
openalex   +1 more source