Results 301 to 310 of about 299,286 (332)

Genetic heterogeneity and key driver mutations in the preneoplastic and earliest stages of gastric cancer. [PDF]

Gastroenterol Rep (Oxf)
Marroquín-Estrada EA, Martínez-Gregorio H, Díaz-Velásquez CE, Ambriz-Barrera F, Córdoba-García EE, Hernández-Romero LI, Ruiz De-La-Cruz M, Cáceres A, Hernández E, Gil JR, Orellana E, Penados D, Richter C, Díaz M, Vaca-Paniagua F.   +14 more
europepmc   +1 more source

Case Report: SMARCA4-deficient NSCLC with brain metastasis harboring co-mutations in chromatin remodeling and DNA damage repair pathways. [PDF]

Front Oncol
Song J, Yang S, Xia L.
europepmc   +1 more source

The nature of mutation: a legacy of bacterial genetics. [PDF]

Genetics
Lovett ST, Sass TH.
europepmc   +1 more source

Characterizing <i>KMT2A</i> Rearrangement in Acute Myeloid Leukemia: A Comprehensive Genomic Study. [PDF]

Cancers (Basel)
Batayneh O, Moein M, Naji NS, Patel A, Mandava AR, Goodman A, Ross JS, Ho C, Marcus C, Zhou Z, Kupakuwana-Suk G, Gentile T, Ghimire KB.   +12 more
europepmc   +1 more source

The value of DNA repair gene and TP53 co-mutation in predicting the response of non-small cell lung cancer to immunotherapy. [PDF]

Discov Oncol
Ye B, Wu C, Quan X, Jia X, Yao L, Lei L, Chen X.   +6 more
europepmc   +1 more source

Germline haploinsufficiency for the base excision repair gene MUTYH causes mutational signature SBS18 in multiple tumour types, specifically leading to an increased risk of colorectal cancer

Sherwood K, Fernandez-Tajes J, Gül G, Thorn S, Ward JC, Wilson JF, Palles C, Bishop DT, Houlston RS, Dunlop MG, Tomlinson IP.   +10 more
europepmc   +1 more source

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DNA mutation analysis of Gaucher patients

American Journal of Medical Genetics, 1992
AbstractWe evaluated 62 Gaucher patients to determine whether patients with similar phenotypes had the same DNA point mutations. Genomic DNA from these Gaucher patients was screened for the 3 most frequent single‐point mutations, occurring in 69% of the 124 patient alleles, and resulting in changes in amino acids 370, 444, and 463.
E, Sidransky, S, Tsuji, B M, Martin, B, Stubblefield, E I, Ginns   +4 more
openaire   +2 more sources

Mutational analysis of archaeal histone-DNA interactions

Journal of Molecular Biology, 2000
Site-specific mutagenesis of the hmfB gene cloned from the archaeon Methanothermus fervidus, followed by expression in Escherichia coli, has been used to generate approximately 90 recombinant (r) variants of the archaeal histone HMfB. The abilities of these variants to form stable archaeal nucleosome-containing complexes with linear pBR322 DNA, and ...
D J, Soares, K, Sandman, J N, Reeve
openaire   +2 more sources

Somatic DNA Mutation Analysis

2017
Somatic mutations in patient tumor DNA samples can be readily detected based on mass spectrometry. The MassARRAY system is a high-throughput matrix-assisted laser desorption time-of-flight (MALDI) mass spectrometer for detection of nucleic acids. The technique is based on single-nucleotide base extension.
Anthony, O'Grady, Robert, Cummins
openaire   +2 more sources

Analysis of Mitochondrial DNA Mutations: Point Mutations

2003
Since the first demonstration that mutations of the mitochondrial genome were associated with human disease, more than 100 pathological mitochondrial DNA (mtDNA) defects have been characterized in patients with a broad spectrum of clinical manifestations (1). Single-point mutations, involving either protein-encoding genes or more commonly RNA (rRNA and
Taylor RW, Andrews RM, Chinnery PF, Turnbull DM   +3 more
openaire   +3 more sources