Embryonic cranial cartilage defects in the Fgfr3Y367C/+ mouse model of achondroplasia
Abstract Achondroplasia, the most common chondrodysplasia in humans, is caused by one of two gain of function mutations localized in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) leading to constitutive activation of FGFR3 and subsequent growth plate cartilage and bone defects.
Susan M. Motch Perrine+9 more
wiley +1 more source
Potential formation of three pyrimidine bases in interstellar regions [PDF]
Work on the chemical evolution of pre-biotic molecules remains incomplete since the major obstacle is the lack of adequate knowledge of rate coefficients of various reactions which take place in interstellar conditions. In this work, we study the possibility of forming three pyrimidine bases, namely, cytosine, uracil and thymine in interstellar regions.
arxiv +1 more source
Motion of the hydrogen bond proton in cytosine and the transition between its normal and imino states [PDF]
The potential energy surface of the H13 proton in base cytosine of the DNA molecules is calculated {\it ab initio} at the Gaussian98 MP2/6-311G(d,p) level. Two potential wells are found. One corresponds to the normal cytosine, while the other corresponds to its imino tautomer.
arxiv +1 more source
Chromosomal breaks at the origin of small tandem DNA duplications
Small tandem DNA duplications form a specific mutational signature frequently found in human disease alleles and cancer genes. Here we hypothesize that these duplications mainly arise at chromosomal DNA breaks that result from two closely located single‐stranded nicks, through error‐prone repair by the non‐homologous end‐joining pathway. Abstract Small
Joost Schimmel+3 more
wiley +1 more source
A mutant of uracil DNA glycosylase that distinguishes between cytosine and 5-methylcytosine. [PDF]
We demonstrate that a mutant of uracil DNA glycosylase (N123D:L191A) distinguishes between cytosine and methylcytosine. Uracil DNA glycosylase (UDG) efficiently removes uracil from DNA in a reaction in which the base is flipped into the enzyme's active ...
Scott T Kimber, Tom Brown, Keith R Fox
doaj +1 more source
Implementation of a Quantum Search Algorithm on a Nuclear Magnetic Resonance Quantum Computer [PDF]
We demonstrate an implementation of a quantum search algorithm on a two qubit NMR quantum computer based on cytosine.
arxiv +1 more source
Factors Influencing the Nitrogen-Source Dependent Flucytosine Resistance in Cryptococcus Species
Flucytosine (5-FC) is an antifungal agent commonly used for treatment of cryptococcosis and several other systemic mycoses. In fungi, cytosine permease and cytosine deaminase are known major players in flucytosine resistance by regulating uptake and ...
Dong-Hoon Yang+3 more
doaj +1 more source
Effectiveness of the enzyme cytosine deaminase in the free living ciliary organism Tetrahymena pyriformis (Ehrenberg, 1830) [PDF]
Cytosine deaminase (EC.3.5.4.1) activity and properties was determined in the extract of the free living ciliata Tetrahymena pyriformis grown in proteose peptone medium. The optimum conditions for the enzyme activity was also determined and it was found
Zahraa Bashi, Muna Jankeer
doaj +1 more source
Shotgun metagenomic sequencing is a powerful approach to study microbiomes in an unbiased manner and of increasing relevance for identifying novel enzymatic functions.
Weiwei Yang+9 more
doaj +1 more source
Protein cysteine residues can be oxidized by nitric oxide (NO) to form protein S‐nitrosothiols (SNOs) in a process called S‐nitrosylation. S‐nitrosoglutathione reductase (GSNOR) is a highly specific denitrase for GSNO; it controls the intracellular levels of GSNO and protein SNOs and protects the body from nitrosative stress.
Yu‐Xin Zhang+9 more
wiley +1 more source