The transcription-coupled nucleotide excision repair (TCNER) pathway maintains genomic stability by rapidly eliminating helix-distorting DNA adducts, such as UV-induced cyclobutane pyrimidine dimers (CPDs), specifically from the transcribed strands of ac
The entire coding regions and splice sites of 27 exons of the CFTR gene were sequenced in 146 chromosomes from the 73 CBAVD patients. Screening was carried out using PCR, gel electrophoresis and DNA sequencing to identify novel variants of the entire coding regions and boundaries of the 27 ...
(1996) Mutations in the gene¨Cencoding SERCA1, the fast¨Ctwitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody ... A Odermatt,PEM Taschner,VK Khanna,... - 《Nature Genetics》 被引量: 364发表: 1996年 Characterization of cDNA and genomic DNA encoding SERCA1,...
The p53 gene contains homozygous mutations in ~50–60% of human cancers. About 90% of these mutations encode missense mutant proteins that span ~190 different codons localized in the DNA-binding domain of the gene and protein. These mutations produce a protein with a reduced capacity to bind ...
The patterns of genetic variation in chloroplast DNAs (cpDNAs) among full-sib progeny and their parents, which can be identified through the comparison of whole-chloroplast genome sequences, contain valuable information for hybrid tree breeding. The maternal inheritance of cpDNAs in the genus ...
using a guide RNA–Cas9 orthologue complex targeting genes within the protospacer-adjacent motif discriminated between homozygous and heterozygous DNA samples from patients with sickle cell disease, and that the biosensors can also be used to rapidly screen for guide RNA–Cas9 complexes that maximize ...
Our findings indicate that p53 has at least two autonomous oligomerization domains: a strong tetramerization domain in its C-terminal region and a weaker oligomerization domain in the central DNA binding region of p53. Together, these ... P Wang,M Reed,Y Wang,... - 《Mol.cell.biol》 被引...
Immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder that shows DNA hypomethylation at pericentromeric satellite-2 and -3 repeats in chromosomes 1, 9 and 16. ICF syndrome is classified into two groups: type 1 (ICF1) patients have muta...
DNA analysis of the NHS gene showed an insertion of a single G at position 2601 on the cDNA (c.2601-2602 insG (p.K868E fsX5). This insertion disrupts the open reading frame and introduces a stop codon 14 basepairs downstream. 140 healthy control alleles did not have this variant. ...
The researchers invented a technique called error-corrected sequencing to identify extremely rare DNA mutations that would be missed by conventional genome sequencing, which allows the researchers to find true mutations that are extremely rare: those present in as few as one in 10,000 cells. ...