Fetal DNA that is circulating in the blood of pregnant women is frequently extracted noninvasively and screened for common chromosome aneuploidies that cause disease such
A person’s sex can affect the kinds of cancer-causing mutations they develop, according to a genomic analysis spanning nearly 2,000 tumours and 28 types of
The influenza virus mutates constantly, and work1 published this month on bioRxiv reveals that this viral volatility can affect whether, and how, a host cell
CRISPR, the genome-editing tool, introduced a mutation in a dog gene that, in effect, overrode a mutation responsible for a disease that mimics Duchenne muscular
CRISPR gene editing can create large numbers of unwanted DNA changes that may go undetected, researchers report today (July 16) in Nature Biotechnology. The findings
About one-quarter of genetic variants that are associated with autism spectrum disorder (ASD) are due to de novo mutations in protein-coding genes. Brandler et al.
A research team headed by scientists at Johns Hopkins Kimmel Cancer Center has developed a multianalyte blood test that can screen for eight common forms
Fusing an RNA-editing enzyme to an RNA-targeting Cas protein has enabled researchers to edit specific nucleotides within RNA molecules in human cells. The approach, called
Highlights •Metastases mostly disseminate late from primary breast tumors, keeping most drivers •Drivers at relapse sample from a wider range of cancer genes than in
With a few exceptions, cancers typically carry more than one driver mutation, sometimes five, ten, or more, and these driver mutations do not necessarily assort
Live imaging shows that healthy skin cells surround and expel neighbours that have cancer-promoting mutations, revealing that tissues can recognize and eliminate mutant cells to
Summary Rucaparib is an inhibitor of nuclear poly (ADP-ribose) polymerases (inhibition of PARP-1 > PARP-2 > PARP-3), following a similar drug, Olaparib. It disrupts DNA
Summary: JAK mutations could be one of the primary escape mechanisms to anti–PD-1/PD-L1 immunotherapy via impaired IFNγ signaling in cancer cells and could be used
Spontaneously arising de novo mutations are likely important contributors to the development of autism spectrum disorder (ASD) in affected individuals. Genetic mutation is an ongoing
Certain mutations that seem to confer antibiotic resistance in three different pathogenic bacterial species also provide a growth advantage and increased virulence during an infection,
KRAS is one of the most frequently mutated oncogenes in human cancer. Despite substantial efforts, no clinically applicable strategy has yet been developed to effectively
Normal skin, which is often exposed to ultraviolet (UV) light throughout a person’s life, contains many potential disease-causing mutations clustered within a narrow range of
Whole-genome sequences from 128 healthy Jewish people could help the medical community identify disease-associated variants in those of Ashkenazi ancestry, according to a study published
When a couple has a child with a genetic disorder, they often ask how likely they are to pass the disorder on to another child.
Mutations in one or more copies of mitochondrial DNA, known as heteroplasmies, are likely to be much more common in healthy people than previously anticipated.
Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 are among the most common genetic alterations in intrahepatic cholangiocarcinoma (IHCC), a deadly liver cancer1, 2, 3, 4, 5. Mutant IDH proteins in
Monoallelic point mutations of isocitrate dehydrogenase type 1 (IDH1) are an early and defining event in the development of a subgroup of gliomas1, 2, 3 and other types
The American Journal of Human Genetics, Volume 89, Issue 1, p162, 15 July 2011. Carles Vilariño-Güell, Christian Wider, Owen A. Ross, Justus C. Dachsel et
The American Journal of Human Genetics, Volume 89, Issue 1, p162, 15 July 2011. Carles Vilariño-Güell, Christian Wider, Owen A. Ross, Justus C. Dachsel et
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