Unbalanced Chromosomal Inheritance More Common than Thought
To date, most cases of uniparental disomy—having two copies of a chromosome from either mom or dad, rather than one from each—have been identified in
To date, most cases of uniparental disomy—having two copies of a chromosome from either mom or dad, rather than one from each—have been identified in
Transcription and pre-mRNA splicing are key steps in the control of gene expression and mutations in genes regulating each of these processes are common in
When I visited Ricaurte, Colombia, in 2016, I was surrounded by men with long faces and prominent ears. As we spoke, they would ask repetitive
Imagine a word processor that allowed you to change letters or words but balked when you tried to cut or rearrange whole paragraphs. Biologists have
Genetics hold far more sway over the mouse microbiome than transient environmental exposures, researchers reported July 26 in Applied and Environmental Microbiology. The results appear
Scientists report finding eight new genetic markers for the eating disorder anorexia nervosa in a study published in Nature Genetics today (July 15). By analyzing
Senators Dianne Feinstein (D-CA), Marco Rubio (R-FL), and Jack Reed (D-RI) introduced a resolution yesterday (July 15) calling for global collaboration in developing guidelines for
Mutation-prone regions in the human genome can foil scientists’ attempts to find DNA sequences responsible for cancer, according to an analysis of genome sequences from
Supporting tumor suppression The protein PTEN is a phosphatase and tumor suppressor whose activity is often decreased in human cancers. Thus, reactivating such a protein
Researchers report in Science that indole-3-carbinol (I3C) – a natural compound found in broccoli – can be used to therapeutically target a gene (WWP1) known
The estimated “natural” life span of humans is ∼30 years, but improvements in working conditions, housing, sanitation, and medicine have extended this to ∼80 years
Sientists have used CRISPR technology to edit out a lung-disease–causing gene while mice were in utero, rescuing the function of the lung and not affecting
NASA’s identical-twin astronauts, Scott and Mark Kelly, are back to being nearly identical. That’s the verdict of a study that tracked how Scott’s body changed
EDITOR’S CHOICE IN DEVELOPMENTAL BIOLOGY The paper K.M. Elias et al., “Primordial germ cells as a potential shared cell of origin for mucinous cystic neoplasms
A genetic variant present in 5 percent of the population is tied to substantially lower blood levels of the active ingredient in a hormonal contraceptive
HeLa cells have now been cultured for nearly 70 years in many labs across the world, and were long considered to be an infinite supply
The great white shark genome—like the animal itself—is giant, with 41 pairs of chromosomes compared to humans’ 23 pairs, researchers reported yesterday (January 18) in
Neurons derived from the skin cells of people with and without autism spectrum disorder exhibit different patterns of growth and development, according to a study
A therapy that edits genes directly in the human body might be safe, suggest early findings from the first trial to test the approach. Researchers
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
The publication1,2 of the human genome sequence in 2001 was accompanied by optimism that a rise in the availability of genomic data might improve clinical
The National Institutes of Health (NIH) and the Food and Drug Administration (FDA) have played key roles in the emergence of safe and effective human
In a recent issue of Nature, Tsunemoto et al. (2018) perform a systematic screening to identify several transcription factor pairs able to generate a variety
Highlights •Multiplexed quantification of the effect of thousands of distinct p53 mutations •Differential mutation outcomes reflect functional evolutionary constraints •Neutral SNPs may interact with acquired
Highlights Somatic mosaicism resulting from post-zygotic mutations has been shown to contribute to many diseases including brain-related disorders, in addition to cancer. Emerging data also
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