Results 41 to 50 of about 188,397 (314)

The scale of mutational variability in the murid genome.

open access: yes, 2005
Mutation rates vary across mammalian genomes, but little is known about the scale over which this variation occurs. Knowledge of the magnitude and scale of mutational variation is required to understand the processes that drive mutation, and is essential
Keightley, Peter, Gaffney, Daniel
core   +1 more source

A function of thymine DNA glycosylase-initiated DNA repair in maintaining epigenome stability [PDF]

open access: yes, 2013
The Thymine DNA Glycosylase (TDG) was initially discovered by its ability to excise the deamination products of cytosine and 5-methylcytosine (5-mC), and therefore thought to initiate base excision repair (BER) of the resulting G•U and G•T mismatches.
Jacobs, Angelika L.
core   +1 more source

Prevalências das mutações 35delG/GJB2 e del (GJB6-D13S1830) em portadores de surdez não-sindrômica na população do Espírito Santo - Brasil Prevalence of 35delG/GJB2 and del (GJB6-D13S1830) mutations in patients with non-syndromic deafness from a population of Espírito Santo - Brazil

open access: yesBrazilian Journal of Otorhinolaryngology, 2010
Mutações no gene GJB2 constituem a principal causa de surdez genética de herança autossômica recessiva, sendo a mutação 35delG a mais comum em muitos grupos étnicos.
Melissa de Freitas Cordeiro-Silva   +4 more
doaj   +1 more source

Chlorella virus DNA ligase: Nick recognition and mutational analysis [PDF]

open access: yesNucleic Acids Research, 1998
Chlorella virus PBCV-1 DNA ligase seals nicked DNA substrates consisting of a 5'-phosphate-terminated strand and a 3'-hydroxyl-terminated strand annealed to a bridging DNA template strand. The enzyme discriminates at the DNA binding step between substrates containing a 5'-phosphate versus a 5'-hydroxyl at the nick.
V, Sriskanda, S, Shuman
openaire   +3 more sources

A mutant of uracil DNA glycosylase that distinguishes between cytosine and 5-methylcytosine

open access: yes, 2014
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 ...
Fox, Keith R.   +11 more
core   +1 more source

Systematic pan-cancer analysis of the potential tumor diagnosis and prognosis biomarker P4HA3

open access: yesFrontiers in Genetics, 2023
Purpose: Prolyl 4-hydroxylase subunit alpha 3 (P4HA3) is implicated in several cancers’ development. However, P4HA3 has not been reported in other cancers, and the exact mechanism of action is currently unknown.Materials and methods: First, the ...
Yinteng Wu   +7 more
doaj   +1 more source

Analysis of core mutation and TET2/ASXL1 mutations DNA methylation profile in myelodysplastic syndrome

open access: yesHematology, 2023
The study aims to analyze genetic mutation and clinical characteristics and study their correlation with survival prognosis of patients with myelodysplastic syndromes (MDS). Moreover, the differential DNA methylation profiles between TET2 mutated (Mut)/ASXL1 wild-type (WT) and TET2-Mut/ASXL1-Mut MDS samples were investigated to explore the mechanism of
Yue Feng   +5 more
openaire   +3 more sources

Deep Sequencing of FLT3‐ITD Enables Response Evaluation and Post‐Treatment Monitoring in Childhood AML: An Exploratory Study

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background An internal tandem duplication in the gene encoding Fms‐like tyrosine kinase 3 (FLT3‐ITD) is associated with high relapse risk and poor prognosis in acute myeloid leukemia (AML) and plays a crucial role in treatment decisions. Measurable residual disease (MRD) analysis of FLT3‐ITD during and after treatment has shown prognostic ...
Sofie Johansson Alm   +11 more
wiley   +1 more source

Mutational analysis of PhiC31 integrase to improve gene therapeutic applications [PDF]

open access: yes, 2010
Die Bakteriophagen Integrase PhiC31 stellt ein viel versprechendes Werkzeug zur Integration genetischen Materials im nicht viral-basierten Gentransfer dar.
Liesner, Raphael
core  

A human cancer-associated truncation of MBD4 causes dominant negative impairment of DNA repair in colon cancer cells

open access: yes, 2007
MBD4 binds to methylated DNA and acts as a thymine DNA glycosylase in base excision repair. Deficiency of MBD4 in mice enhances mutation at CpG sites and alters apoptosis in response to DNA damage, but does not increase tumorigenesis in mismatch repair ...
Bader, S A   +5 more
core   +1 more source

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