Results 11 to 20 of about 48,803 (188)

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

One-carbon metabolism in cancer [PDF]

, 2017
Cells require one-carbon units for nucleotide synthesis, methylation and reductive metabolism, and these pathways support the high proliferative rate of cancer cells.
AJ MacFarlane, Alice C Newman, AS Tibbetts, B Chaneton, BC Blount, C Commisso, CA Lewis, CF Labuschagne, CF Woeller, D Hanahan, D Hanahan, D Kim, DD Anderson, E Currie, E Mullarky, F Daidone, F Kottakis, G Kikuchi, GM DeNicola, Gregory S. Ducker, GS Ducker, J Liu, J Meiser, J Ye, Jason W. Locasale, JJ Kamphorst, JW Locasale, K Snell, K Snell, K Snell, Katherine R. Mattaini, L Galluzzi, M Goulian, M Jain, M Kulis, Mahya Mehrmohamadi, ME Pacold, Ming Yang, MJ Osborn, ML Rose, ML Rose, OD Maddocks, OD Maddocks, Oliver D K Maddocks, Oliver D. K. Maddocks, PM Ueland, R Possemato, S Farber, S Kit, S Pollari, SJ Mentch, Swetha Bolusani, T Shlomi, WC Zhang, Y Fu, Z Ser   +55 more
core   +1 more source

An uracil-linked hydroxyflavone probe for the recognition of ATP [PDF]

, 2018
Background: Nucleotides are essential molecules in living systems due to their paramount importance in various physiological processes. In the past years, numerous attempts were made to selectively recognize and detect these analytes, especially ATP ...
Bitter, István, Bojtár, Márton, Hessz, Dóra, Janzsó-Berend, Péter Zoltán, Kubinyi, Miklós, Kállay, Mihály, Mester, Dávid   +6 more
core   +1 more source

Functional and genetic evidence that nucleoside transport is highly conserved in Leishmania species: Implications for pyrimidine-based chemotherapy [PDF]

, 2017
Leishmania pyrimidine salvage is replete with opportunities for therapeutic intervention with enzyme inhibitors or antimetabolites. Their uptake into cells depends upon specific transporters; therefore it is essential to establish whether various ...
Ali, Juma A.M., Alzahrani, Khalid J.H., Barrett, Michael P., Creek, Darren J., De Koning, Harry P., Eze, Anthonius A., Looi, Wan Limm, Tagoe, Daniel N.A.   +7 more
core   +2 more sources

Tools and drugs for uracil nucleotide-activated P2Y receptors

Pharmacology & Therapeutics, 2018
P2Y receptors (P2YRs) are a family of G protein-coupled receptors activated by extracellular nucleotides. Physiological P2YR agonists include purine and pyrimidine nucleoside di- and triphosphates, such as ATP, ADP, UTP, UDP, nucleotide sugars, and dinucleotides.
Rafehi, Muhammad, Müller, Christa E.
openaire   +4 more sources

Involvement of uracil nucleotides in protection of cardiomyocytes from hypoxic stress [PDF]

Biochemical Pharmacology, 2005
Cardiomyocytes express one or more subtypes of P2 receptors for extracellular nucleotides. P2 purinoceptors, which are activated by nucleotides, are classified as P2X or P2Y: P2X receptors are ligand-gated intrinsic ion channels, and P2Y receptors are G protein-coupled receptors.
Smadar, Yitzhaki, Vladimir, Shneyvays, Kenneth A, Jacobson, Asher, Shainberg   +3 more
openaire   +2 more sources

The Importance of the Fifth Nucleotide in DNA: Uracil

, 2023
Uracil is a ribonucleotide found in both DNA and RNA, with the main difference between the two being the presence of thymine in DNA and uracil in RNA. Although thymine and uracil are similar in function and can form the same base pairs with adenine, the presence of uracil in DNA can affect DNA stability and modulate cell-specific functions.
Roberts, Jamie Z., LaBonte , Melissa J.
openaire   +3 more sources

Raman depolarization ratios in RNA and DNA are sensitive for sugar-base coupling [PDF]

, 1995
Polarized and depolarized Raman spectra are obtained for a number of synthetic polynucleotides containing adenine, uracil, and thymine bases. The depolarization ratios are determined by two methods: (1) by dividing the -spectrum by the -spectrum and (2 ...
Benevides, Brahms, Chandrasekaran, de Mul, Fanconi, Fukushi, Hartman, Kollman, Letellier, Lord, Patapoff, Rao, Saenger, Shelley, Thomas, Tsuboi, Ueda, Wang   +17 more
core   +3 more sources

Genomic organization of nucleolin gene in carp fish: Evidence for several genes [PDF]

, 2006
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602006000200017&lng=es&nrm=isoThe protein nucleolin, functionally involved in the main steps of ribosome biogenesis, is codified by a single copy gene in mammals.
Alvarez, Marco, Molina, Alfredo, Navarro, Cristina, Quezada, Claudia, San Martín, Rody, Vera, Ines   +5 more
core   +2 more sources

Deuterated nucleotides as chemical probes of RNA structure: a detailed protocol for the enzymatic synthesis of a complete set of nucleotides specifically deuterated at ribose carbons [PDF]

, 2015
We describe here a detailed protocol for the synthesis of ribonucleotides specifically deuterated at each ribose carbon atom. We synthesized 20 specifically deuterated ribonucleotides: ATP, CTP, GTP, and UTP, each of which contained one of five ...
Azad, Robert, Ingle, Shakti, Tullius, Tom   +2 more
core   +3 more sources