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UTHealth discoveries shed more light on deadly thoracic aortic disease

Researchers at UTHealth have identified a fifth gene defect associated with thoracic aortic disease, as well as 47 DNA regions linked to the condition. The findings offer new insights into the role of smooth muscle cells in contracting the aorta and provide potential avenues for blocking or reversing the disease.

Wistar researchers discover new class of objects encoded within the genome

Researchers at The Wistar Institute have discovered a new class of long non-coding RNA molecules that function like gene enhancer elements, promoting gene expression and potentially accounting for unknown genomic activity. This breakthrough joins a growing body of evidence challenging the central dogma of genetics.

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2 studies find new genetic links to ovarian cancer risk

Two studies found new genetic variants linked to ovarian cancer risk in the general population, particularly in women with serous ovarian cancer. The variants were more common in women with aggressive disease and may be used for closer surveillance and preventive approaches.

The taste of quinine: It's in your bitter genes

A recent study published in Human Molecular Genetics found that genetic variation in bitter taste receptors predicts a person's perception of quinine's bitterness. This suggests that individual differences in how people experience quinine's bitterness are related to underlying genetic differences.

Researchers discover mechanism that prevents 2 species from reproducing

Cornell researchers discovered a genetic mechanism in fruit flies that prevents reproduction between two closely related species, Drosophila melanogaster and D. simulans. The mechanism involves rapidly evolving junk DNA in the male's X chromosome, which creates incompatibilities with the female's DNA, leading to embryo death.

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Sex talk revelations of the lonely Y chromosome

Researchers from the University of Leicester have shown that exchange of DNA occurs between the X and Y chromosomes, potentially giving the Y chromosome a way to fix mutations. The study challenges scientific theory that the X and Y chromosomes did not communicate at all.

Gene variation is 'major genetic determinant of psoriasis'

Researchers identify three genetic variations on chromosome 6 associated with psoriasis, with HLA-Cw*0602 being the strongest link. The study found that individuals with all three variants are nearly nine times more likely to develop the disease.

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Male sex chromosome losing genes by rapid evolution, study reveals

A study by Penn State scientists found that the Y chromosome has evolved rapidly, losing genes at a rate that could lead to its complete disappearance. The research revealed that this rapid evolution is due to the Y-specific DNA evolving independently from the non-sex chromosomes.

Scientists discover genetic defects linked with rare bearded lady

Scientists have identified genetic mutations on chromosome 17q24.2-q24.3 as responsible for Congenital Generalized Hypertrichosis Terminalis (CGHT), a rare condition characterized by excessive hair growth and facial distortion. The discovery provides new insight into the molecular mechanisms underlying this condition.

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Research team finds important role for junk DNA

A research team from Princeton University has found that DNA sequences previously considered 'junk' are essential for an organism's growth and development. The discovery reveals that these regions, known as transposons, perform critical functions by rearranging the genome.

New gene linked to autism risk, especially in boys

Researchers at UCLA have discovered a link between a variant of the CACNA1G gene and increased autism risk in boys. The study found that nearly 40% of the population carry the common variant, which increases the correlation to autism spectrum disorder.

Researchers find possible genetic link for pelvic floor disorders

A study published in the American Journal of Human Genetics found a significant evidence for a gene on chromosome 9q21 that may contribute to pelvic floor disorders. The researchers analyzed DNA from 70 women from 32 families with at least two cases of pelvic floor disorders and found significant evidence for a genetic predisposition.

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When every photon counts

Researchers found that nocturnal mammals have an inverted chromatin arrangement in their rod nuclei, which acts as micro-lenses to focus light. This unique organization enhances night vision and provides new insights into the evolution of mammalian retinas.

Scientists shed light on evolution of gene regulation

Researchers at Penn State have discovered that not all DNA segments bound to the GATA1 protein are conserved across mammals, challenging previous assumptions. They found that 45% of these segments retain their identical form in other species, suggesting purifying selection maintains most regulatory regions.

Sicilian word enters British genetic language

Researchers identify key gene transferred from Sicilian plant to British Groundsel weed, allowing for natural genetic exchanges and evolution. This discovery challenges traditional views of evolution as a one-way process.

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Genographic scientists uncover new piece of Phoenician legacy

A new study reveals that up to one in 17 men in the Mediterranean basin may have a Phoenician ancestor, with a genetic signature distinct from other trading and settlement expansions. The analysis of Y-chromosomal lineages suggests that the Phoenicians contributed at least 6 percent to modern populations.

Evolution of an imprinted domain in mammals

A new study investigates the evolution of genomic imprinting in mammals, finding that different regions became imprinted at different times during mammalian evolution. This suggests that changes were in response to selection pressures and are adaptive.

Too many gene copies stimulate tumor cell growth

Researchers discovered that duplicated regions of DNA containing the BRAF gene lead to increased tumor growth. Targeting the MAPK pathway, which is downstream of BRAF, may provide a new approach for treating individuals with low-grade astrocytomas.

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Cats' family tree rooted in Fertile Crescent, study confirms

A recent genetic study has confirmed that the domestic cat's family tree is rooted in the Fertile Crescent, a region in the Middle East. The study found that over 11,000 cats from around the world were genetically clustered into four groups corresponding to European, Mediterranean, east African, and Asian regions.

More 'functional' DNA in genome than previously thought

A team of researchers has found that current computer programs can miss up to 60% of regulatory DNA regions, which contribute to inherited diseases like Parkinson's and mental disorders. The study used a novel approach to identify functional DNA sequences in zebrafish embryos, uncovering 17 discrete DNA segments with regulatory potential.

Bioclocks work by controlling chromosome coiling

Researchers found that biological clocks influence gene activity by controlling chromosome coiling in cyanobacteria, suggesting a universal theme for higher organisms. The study provides direct evidence of the regulatory mechanism, which could explain why some genes are active during the day and night.

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Scientists at the Salk Institute report that ATM protein activation depends on both damaged DNA and surrounding flanking regions. This discovery reveals a new mechanism for efficient DNA repair, highlighting the importance of intact chromatin in activating the cellular response.

Coming together: tDNAs, RNA pol III and chromatid cohesion

Researchers found that tDNA genes and components of RNA pol III are required for establishing silent chromatin cohesion at the HMR locus. This discovery provides new insights into chromosome architecture and may have implications for understanding genetic regulation.

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Where broken DNA is repaired

Studies show that double-strand breaks and radiation-induced foci occur at specific regions of the nucleus for repair, contradicting previous assumptions of random distribution. The findings suggest a time effect, with microscope images showing nonrandom distribution of RIF within five minutes of exposure to high-energy particles.

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Invasion of the island bats

A study published in Journal of Biogeography reveals that Caribbean bat species have reversed colonized the continent from which they originated, defying conventional wisdom. This finding highlights the dynamic relationship between islands and the Americas, emphasizing the need for conservation efforts in the West Indies.

Stretching DNA to the limit

A Duke University team develops a method to measure DNA mechanical properties upon irradiation, revealing unraveling of the double helix and crosslinking of bases. This work establishes a relationship between DNA nanomechanics and damage, paving the way for DNA diagnostics.

Daisies in bloom

A team of researchers has designed a biochip platform using a novel 'daisy' molecule that enables efficient gene expression and protein production without living cells. The system allows for the patterning of genes on silicon surfaces, enabling selective trapping of specific proteins with high spatial resolution.

Comparing chimp, human DNA

Researchers identified 202 'highly accelerated regions' of DNA that have undergone rapid evolution since humans and chimps diverged, with most not coding for genes. These regions are conserved across multiple species, suggesting they play important roles in controlling gene expression and development.

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Comparing chimp and human DNA

A new study published in PLoS Genetics has identified specific DNA regions that have accelerated their evolution in humans compared to chimpanzees. These 'Human Accelerated Regions' (HARs) are located near genes involved in growth and development, suggesting they may play important roles in human evolution.

JCI table of contents: Oct. 5, 2006

Researchers discover RELM-beta's role in IBD, finding it activates macrophages to produce pro-inflammatory factors. Additionally, antibodies against BP180 cause blister formation in mice by activating the classical complement pathway.

Researchers identify human DNA on the fast track

A team of researchers discovered a novel RNA gene in the human genome that is rapidly evolving and plays a crucial role in brain development. The gene is transcribed into RNA in the brain and its changes are associated with schizophrenia and other mental disorders.

Brain gene shows dramatic difference from chimp to human

A study has found that a specific gene linked to brain development in humans differs dramatically from its counterpart in chimpanzees. The gene, called HAR1, has undergone significant changes over the past five million years, with 18 of its 118 letters changing between humans and chimps.

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Remote control for human growth hormone gene expression

Researchers discovered a novel mechanism controlling human growth hormone (hGH) gene expression through non-coding RNAs. This finding may lead to the development of therapeutics for hGH defects and a better understanding of genetic disorders.

Cracking the genetic code for control of gene expression

A new approach to understanding gene expression regulation has been developed by Finnish scientists. By analyzing DNA sequences and identifying regulatory elements, the researchers have uncovered a potential mechanism explaining why many genes are linked to cancer.

Region of DNA strongly associated with Alzheimer's disease

A study published in the American Journal of Human Genetics has identified a genetic region on chromosome 10 strongly associated with late-onset Alzheimer's disease. The researchers scanned over 1,400 single-nucleotide polymorphisms and found six genes within this region that may be involved in the development of the disease.

New methods offer insight into regulatory DNA

Scientists have developed new methods to study the connection between regulatory DNA and disease, using a combination of genome-wide associations and cell culture data. The study identified over 3000 genes that could be subject to modification of activity due to common genetic variations.

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Disparate mole-rats

Researchers studied the genetic markers of African mole-rats to understand their complex social behavior. They found that these microsatellites can reveal how traits pass from mother to offspring, potentially explaining why family members support a single mother naked mole-rat.

'Punctuated' evolution in the human genome

Scientists have identified temporal bias in gene duplication events within a complex region of human chromosome 2. This 'punctuated' evolution suggests that DNA duplication and rearrangement occurred at an unprecedented scale in the past, followed by quiescence.

Joslin Diabetes Center scientists find genetic defects

Researchers at Joslin Diabetes Center have identified genetic regions involved in autoimmune diseases, including type 1 diabetes. The study found a chromosomal region where T-cells were given the green light to attack beta cells, leading to insulitis and later type 1 diabetes.

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