Results 51 to 60 of about 14,080 (252)

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

Intrinsic Strand-Incision Activity of Human UNG: Implications for Nick Generation in Immunoglobulin Gene Diversification

Frontiers in Immunology, 2021
Uracil arises in cellular DNA by cytosine (C) deamination and erroneous replicative incorporation of deoxyuridine monophosphate opposite adenine. The former generates C → thymine transition mutations if uracil is not removed by uracil-DNA glycosylase ...
Marina Alexeeva, Marivi Nabong Moen, Marivi Nabong Moen, Xiang Ming Xu, Anette Rasmussen, Ingar Leiros, Finn Kirpekar, Arne Klungland, Lene Alsøe, Lene Alsøe, Hilde Nilsen, Hilde Nilsen, Svein Bjelland, Svein Bjelland   +13 more
doaj   +1 more source

Ground State Destabilization in Uracil DNA Deglycosylase (UDG): Let’s Not Forget “Tautomeric Strain” in Substrates [PDF]

, 2019
QM and QM/MM computations reveal that some enzymes, like the uracil DNA deglycosylase, may achieve ground state destabilization through substrate "tautomeric strain.
G. Andres, Cisneros, Judy, Wu, Ranjita, Das, Erik A., Vázquez-Montelongo   +3 more
core   +1 more source

5,5-Dichloro-6-hydroxydihydropyrimidine-2,4(1H,3H)-dione: molecular and crystal structure, Hirshfeld surface analysis and the new route for synthesis with Mg(ReO4)2 as a new catalyst

Acta Crystallographica Section E: Crystallographic Communications, 2020
The molecular and crystal structures of the title compound, C4H4Cl2N2O3, were investigated by single-crystal X-ray diffraction and a Hirshfeld surface analysis.
Anton P. Novikov, Sergey N. Ryagin, Mikhail S. Grigoriev, Alexey V. Safonov, Konstantin E. German   +4 more
doaj   +1 more source

Thymine-Modified Nanocarrier for Doxorubicin Delivery in Glioblastoma Cells

Molecules, 2023
Brain tumor glioblastoma is one of the worst types of cancer. The blood–brain barrier prevents drugs from reaching brain cells and shields glioblastoma from treatment.
Albina Y. Ziganshina, Elina E. Mansurova, Alexandra D. Voloshina, Anna P. Lyubina, Syumbelya K. Amerhanova, Marina M. Shulaeva, Irek R. Nizameev, Marsil K. Kadirov, Leysan R. Bakhtiozina, Vyacheslav E. Semenov, Igor S. Antipin   +10 more
doaj   +1 more source

Stacking of the mutagenic base analogue 5-bromouracil : energy landscapes of pyrimidine dimers in gas phase and water [PDF]

, 2015
The authors gratefully acknowledge EaStCHEM for computer time on the EaStCHEM Research Computing Facility. LFH is grateful to the Engineering and Physical Sciences Research Council for studentship support through the Doctoral Training Account scheme ...
van Mourik, Tanja, Holroyd, Leo Frederick   +1 more
core   +1 more source

Uracil-density measured by the long amplicon qPCR approach.

, 2018
A) Relative percent amplification of the genomic DNA samples from the yeast cells treated with the indicated concentration of 5-FU for 24 hrs. B) The uracil-density of the genomic DNA samples calculated from the relative percent amplification shown in A).
Nayun Kim (481079), Shanqiao Wei (4446301), Ashok S. Bhagwat (111506), Norah Owiti (5523059)   +3 more
core   +1 more source

Cell Lysis in S. pombe ura4 Mutants Is Suppressed by Loss of Functional Pub1, Which Regulates the Uracil Transporter Fur4. [PDF]

PLoS ONE, 2015
Schizosaccharomyces pombe Δura4 cells lyse when grown on YPD medium. A S. pombe non-essential gene deletion library was screened to determine suppressors of the lysis phenotype.
Kohei Nishino, Misaki Kushima, Yuzy Matsuo, Yasuhiro Matsuo, Makoto Kawamukai   +4 more
doaj   +1 more source

Prebiotic Route to Thymine from Formamide—A Combined Experimental–Theoretical Study

Molecules, 2021
Synthesis of RNA nucleobases from formamide is one of the recurring topics of prebiotic chemistry research. Earlier reports suggest that thymine, the substitute for uracil in DNA, may also be synthesized from formamide in the presence of catalysts ...
Lukáš Petera, Klaudia Mrazikova, Lukas Nejdl, Kristyna Zemankova, Marketa Vaculovicova, Adam Pastorek, Svatopluk Civis, Petr Kubelik, Alan Heays, Giuseppe Cassone, Jiri Sponer, Martin Ferus, Judit Sponer   +12 more
doaj   +1 more source

APOBEC3 activity and DNA polymerase‐ε deficiency are associated with distinct IDH1 R132 hotspot mutations

Molecular Oncology, EarlyView.
Isocitrate dehydrogenase 1 (IDH1) mutations are highly recurrent in multiple human cancer types, including cholangiocarcinoma and glioma. IDH1 R132C is the most common IDH1 mutation in cholangiocarcinoma and likely arises from APOBEC3A‐ or APOBEC3B‐mediated deamination.
Kelly E. Butler, Bilal A. Lone, Ecem Unal, A. Rouf Banday   +3 more
wiley   +1 more source