A study by neuroscientist William C. Mobley demonstrated a possible new approach to slowing cognitive decline in Down's syndrome using a pro-drug for norepinephrine, rescuing cognition in mice.
A CSHL-led team discovered a rare mutation on human chromosome 16 that dramatically increases the risk of schizophrenia. The mutation is associated with an eight-fold increased risk, and studies also found a correlation between 16p11.2 mutations and head size.
Researchers found genetic variations on chromosome 6 associated with higher risk of schizophrenia. This discovery may lead to new treatments for autoimmune disorders and improve existing treatments.
The European Society of Human Reproduction and Embryology (ESHRE) has launched an international study to investigate the efficacy of polar body screening in preimplantation genetic testing. The study aims to determine whether this novel method offers a possible solution for improving IVF treatment outcomes.
Researchers at Uppsala University have identified a new enzyme necessary for DNA synthesis that can also erase DNA from bacterial chromosomes. By studying Salmonella mutants, they found that this enzyme plays a crucial role in spontaneous gene deletions, which can lead to the reduction of DNA content.
Researchers at IRIC found that polo kinase tells chromosomes when to condense during cell division, linking it to several cancers. Inhibiting this mechanism could lead to effective therapies for treating cancer.
A comprehensive international study has identified eight previously unknown genes affecting blood pressure in healthy individuals. The study, involving 34,433 Europeans, mapped the human genome using hundreds of thousands of genetic markers and found associations with several genes regulating salt metabolism and smooth muscle signaling.
The DECIPHER database has revealed its developing role in revolutionizing both clinical practice and genetic research, providing a key to unlock the causes of illnesses. The data from around 100 centres has been shared openly worldwide, benefiting researchers, clinicians, and patients.
A team of University of Washington scientists has uncovered the basis for the strong yet dynamic attachment of spindle fibers to kinetochores, a site on each chromosome that mechanically couples to spindle fibers. This discovery sheds light on how chromosomes are accurately and evenly divided during cell division.
Researchers found that two proteins, Kif2b and MCAK, work together to ensure proper chromosome segregation during cell division. Increasing these proteins in tumor cells restored nearly normal accuracy of chromosome segregation, providing insight into mechanisms of cell division in tumor cells.
Researchers at Tufts University found that long CGG repeats stall replication, leading to chromosomal fragility and breaking, and disable cellular checkpoints that repair replication malfunctions.
A team of Dartmouth researchers has found a new function for the protein NOD, which plays a crucial role in chromosome segregation during cell division. This discovery contributes to our understanding of how cell functions can go wrong, particularly in cancerous cells.
The American Society for Cell Biology's Celldance contest reveals visually engaging and scientifically important cell-related content. This year's winners showcase stunning visuals of cellular processes, including Golgi ribbons and clathrin proteins, through videos and microscope stills.
The Baumann Lab discovered an important step in the maturation pathway of telomerase, an enzyme that replenishes chromosome ends with every cell division. This finding sheds light on human health and demonstrates that interfering with telomerase maturation can inactivate telomerase.
The Rong Li Lab discovered that chromosomes recruit formin-2 to promote actin filament formation around chromosomes, driving chromosome movement and asymmetric cell division. This process allows the oocyte to retain most of its cytoplasm while the polar body receives minimal amounts.
A National Institutes of Health study found that people with WAGR syndrome, a rare genetic condition, have low blood levels of the brain chemical BDNF and are more likely to become obese. The study suggests that BDNF plays a role in regulating appetite and body weight.
Research at Karolinska Institutet found that people with schizophrenia have an increased number of unusual chromosomal changes, particularly structural changes that can alter gene function. These changes, known as copy number variants, may contribute to the development of the disorder.
Researchers discovered a significant increase in rare deletions and duplications of genetic material in people with schizophrenia, affecting 13.1% of cases and 10.4% of controls. Two new sites on Chromosomes 1 and 15 were implicated as potent risk factors for the disorder.
A new study sheds light on how centromeric protein E (CENP-E) orchestrates chromosome movements at a critical stage of cell division. The researchers used a technique to watch CENP-E move along its microtubule tightrope, making key observations about its movement and force production.
A University of Missouri scientist discovered a mechanism in bread mold that 'silences' unmatched genes during meiosis, protecting the organism from genetic abnormalities. This process, known as MSUD, could have applications in pharmaceuticals and agriculture by precisely targeting unwanted genes.
A study found that people with gliomatosis cerebri missing chromosome 1p and 19q respond better to temozolomide and live longer. The genetic signature was associated with a higher response rate and longer survival, making temozolomide a preferred treatment option.
A study found that a small portion of chromosome 16, known as 16p11.2, is significantly associated with autism. The deletion occurs in only four out of 712 subjects with autism, yet it is the second most common recurrent genomic disorder linked to the condition.
Genetics experts at The Children's Hospital of Philadelphia will investigate Ring chromosome 20 syndrome, a rare disorder causing severe epilepsy and mental retardation. The study aims to identify patients, establish cell lines and analyze patterns of gene expression to guide future treatments.
Researchers at UWM are collaborating with PhysioGenix Inc. to investigate a novel animal model for diseases like depression and ADHD. The consomic rats, developed by MCW, have already shown promise in studying cardiovascular disease and hypertension.
Research reveals a critical link between protein 'chat' and cancer development, shedding light on three rare but deadly disorders. Shortened chromosome ends can lead to genetic instability, promoting cancer growth.
A new study suggests that acute leukemia patients with a specific genetic mutation may benefit from aggressive therapy to extend their disease-free survival. Researchers found that treating patients with the MLL-PTD mutation with an autologous stem cell transplant significantly reduced early relapses.
Scientists at Karolinska Institutet have found a new way chromosomes are repaired after damage, contrary to the long-held view that cohesion only occurs during cell division. The discovery shows cohesin reactsivate when DNA breaks, allowing cells to fix damaged sister chromatids.
Chromosome condensation, essential for successful cell division, begins early but continues late, acting as a safety net against separation defects. The EMBL researchers discovered that an enzyme called Aurora kinase is crucially involved in this process.
A study found associations between genetic markers on chromosomes 11, 1, 2, 5, 18, 20, and 22 in tumor stroma and clinicopathological features. These findings support a model where genetic changes occur in both stromal and epithelial compartments during tumorigenesis.
Researchers have produced the first chromosomal map that shows regions of chromosomes that activate – and are apparently evolving – in animals in response to climate change. The map allows for identification of specific genes controlling seasonal development, which will help predict animal survival and disease-carrying vector movement.
Researchers at UCSD School of Medicine identify a protein group that forms the chromosome-spindle connection, allowing for accurate genome distribution. They also discover a complex that helps cells discriminate between correct and incorrect spindle connections, shutting down pulling processes to prevent genetic birth defects and cancer.
Researchers at Johns Hopkins Medicine have invented two new gene 'chip' technologies to identify disease-causing mutations in the human genome. The TIP-chip can locate transposable elements that disrupt normal gene function, while a second chip contains twice as much genetic information, enabling faster and cheaper experiments.
Researchers discovered a new 'helper' compound, dasatinib, that effectively treats some leukemias by targeting both BCR-ABL and SRC kinases. The findings suggest addressing both pathways is crucial for optimal treatment outcomes.
Biologists have discovered that genes can change their locations in a genome, triggering the origin of species. The 'jumping gene' theory, long disputed, has been confirmed by researchers at the University of Rochester using fruit fly species Drosophila melanogaster and Drosophila simulans.
A study of Old World fruit flies found increased frequency of low-latitude inversions in their chromosomes, suggesting protection against warmer temperatures. This rapid genetic shift is detectable even for samples separated by fewer than two decades, highlighting the potential for species adaptation to climate change.
Researchers found that missing portions of chromosomes can predict which patients will likely do better with therapy. Patients with tumors having deletions in chromosome locations 1p and 19q tended to live nearly two and a half times longer than those without such deletions.
The Baylor Human Genome Sequencing Center has completed the sequencing of human chromosome 3, a significant achievement in understanding the genetic basis of human diseases. This effort involved over 700 researchers from multiple institutions and was an international collaboration between teams from the US, Germany, and China.
Chromosomes in the cell nucleus exhibit directed, long-range movement that depends on actin and myosin, contradicting earlier theories on gene location. The study reveals a mechanism for actively moving chromosomes between the periphery and interior of the nucleus.
Dasatinib has shown promise in treating leukemia patients resistant to standard therapies, with 93% complete hematologic response and 45% major cytogenetic response. However, relapses have occurred in certain patient groups due to dasatinib-resistant BCR-ABL mutations.
A study published in Alcoholism: Clinical & Experimental Research found that genetic variations on chromosomes two and four may affect drinking behavior, potentially preceding alcoholism. The research team analyzed DNA from 158 families with a history of smoking to identify genes related to alcohol addiction.
Researchers at the University of Florida found that preimplantation genetic diagnosis is highly reliable, but a small margin of error exists due to chromosomal mosaicism. This phenomenon can lead to inaccurate diagnoses, with up to 50% of embryos showing mosaic cells.
Researchers found that nonmelanoma skin cancers are strongly associated with UVB radiation, but melanoma patients have a different response. The study suggests that melanoma may be resistant to UVB-induced chromosomal breaks, increasing the risk of more serious cancer.
Researchers found a potential link between chromosome 10 and low response to alcohol (LR) in young adults, particularly those with a family history of alcoholism. The KCNMA1 gene was identified as a key player in controlling the intensity of alcohol effects on potassium flow.
Reify's Visible Discovery technology demonstrates high-throughput in vivo and in vitro phenotypic screens for cardiovascular structure and function, as well as subcellular particle movement. The platform provides fast, unbiased results with minimal end-user intervention.
The meiotic histone code is a complex process that regulates genetic recombination and chromosome segregation during meiosis. This code involves the dynamic changes of histone modifications on chromosomes.
A study combining genome scan data from 11 independent linkage studies found strong genetic signals on chromosomes 6 and 8 associated with bipolar disorder. The analysis involved over 1,000 families and 5,179 individuals from North America, Italy, Germany, Portugal, the UK, Ireland, and Israel.
The University of Arizona team successfully mapped and sequenced the rice genome, unlocking the secrets of over 37,500 genes. This breakthrough will enable researchers to identify desirable traits such as drought tolerance and pest resistance, leading to improved rice varieties for global food security.
A recent study by the European Society of Human Reproduction and Embryology found that while Beckwith-Widermann syndrome had a significant risk for children conceived through ART, no significantly higher rates of other disorders were observed in children born after ART apart from BWS. The researchers also identified a possible mechanis...
Researchers identified a link between chromosomes 7 and 21 and autism susceptibility, with new evidence suggesting chromosome 21 plays a role in the condition. This finding may help explain the increased prevalence of autism among children with Down syndrome.
Researchers have identified two genomic regions associated with hypertension in African Americans, which can help locate genes affecting the condition. The study uses a genome-wide scan to compare genetic variations between African and European populations.
A team of researchers has identified a key mechanism in genetic inheritance during cell division, where kinetochore proteins form rings around microtubules to promote assembly, stability, and bundling. This ring formation may be essential for maintaining chromosome segregation during mitosis.
New data from the largest study on CML patients (1106) showed improved rates of progression-free survival and durable responses to imatinib. Patients with early cytogenetic responses achieved higher progression-free survival rates, with 93% at 42 months compared to 74% without
A recent study found that genetic variation can predict an individual's likelihood of taking up smoking and their nicotine dependency. Chromosomes 6, 14, and 10 contain regions associated with smoking behavior. Researchers used a large twin study to investigate the role of genetics in smoking.
A new genetic study identified strong evidence for Alzheimer's genes on chromosomes 18 and 10, expanding our knowledge of the disease. The research, conducted on Hispanic families in the Dominican Republic, sheds light on the complex interaction of multiple genes that contribute to Alzheimer's.
A mouse study challenges the idea that a specific gene region is responsible for Down syndrome's characteristic facial features and traits. Researchers found that mice with only two copies of this region still exhibited shorter bones, contradicting previous assumptions.
Researchers used an extremely sensitive measurement technique to study myosin VI's movement. They found that it walks in a 'hand-over-hand' mechanism, causing part of the protein to come undone. This challenges the long-held inchworm motion theory for this molecular motor.
Scientists have made a groundbreaking discovery about DNA crossover during meiosis, which is crucial for sexual reproduction. The new findings suggest that the decision to make a crossover or non-crossover recombination is made much earlier than previously thought, shedding light on the molecular basis of this process.
Researchers have confirmed three previously suggested loci and identified two new ones for potential AMD genes on chromosomes 1, 2, 5, 9, 22. The study used high-resolution genome scans to narrow the search for AMD-related genes.
St. Jude scientists have discovered a new method to target the Topoisomerase 1 enzyme, crucial for cell division, leading to potential novel anti-cancer drugs that can work in combination with existing agents. This approach may also reduce cancer cells' ability to become resistant to treatment.
A new study found that three months is too soon to judge a patient's response to Gleevec, a common CML treatment. Researchers discovered that achieving a complete cytogenetic response had a significant impact on long-term outcome and survival rates.