Current Chromosomal Abnormalities News and Events

Current Chromosomal Abnormalities News and Events, Chromosomal Abnormalities News Articles.
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3D biopsies to better understand brain tumors
Researchers at the Institut de Neurociències of the Universitat Autònoma de Barcelona (INc-UAB) obtained a highly accurate recreation of human glioblastoma's features using a novel 3D microscopy analysis. The study, published in the journal Acta Neuropathologica Communications, provides new information to help with the diagnose, by finding therapeutical targets and designing immunotherapeutical strategies. (2021-02-19)

Genotoxic E. coli 'caught in the act'
Max Planck researchers and their collaborators reveal transformation of colon organoids in vitro. (2021-02-17)

COVID-19 linked to potentially dangerous eye abnormalities
Researchers using MRI have found significant abnormalities in the eyes of some people with severe COVID-19, according to a new study. The study results support the need for eye screening in these patients to provide appropriate treatment and management of potentially severe ophthalmological manifestations of COVID-19. (2021-02-16)

Glitch in genome architecture may cause B-cell malignancies
Restoring an enzyme that maintains the way chromosomes are packed inside cells may lead to new therapies for some blood cancers, according to a new study by Columbia researchers. (2021-02-01)

Rules of resistance against transgene silencing
A new protocol brings the precise standards of engineering to the realm of synthetic biology. (2021-01-28)

Rare genetic syndrome identified, caused by mutations in gene SATB1
Variations in the gene SATB1 have been shown to cause a rare genetic syndrome. Different variations across the gene lead to varied effects on the cell, leading to a difference in the severity of neurodevelopmental disorders. Discovery of this genetic syndrome is hoped to provide information to families and individuals affected by SATB1-syndrome. (2021-01-28)

Humanizing yeast ORC sheds light on cancer therapy and human development
Researchers from the HKSUST and the HKU recently demonstrated that the selectivity determinant of Origin Recognition Complex for DNA binding lies in a 19-amino acid insertion helix in the Orc4 subunit, which is present in yeast but absent in human. (2021-01-27)

A new study reveals an "Achilles heel" of cancer cells
? For the first time, a study shows how an abnormal number of chromosomes (aneuploidy) - a unique characteristic of cancer cells that researchers have known about for decades - can become a vulnerability of these cells. ? The study could lead, in the future, to the development of drugs that will use this trait to eliminate cancer. (2021-01-27)

How to find mutated sperm? Just go FISH
A test developed by Berkeley Lab scientists can quickly and easily detect whether sperm cells are carrying chromosomal defects, an advance that will help men who have undergone cancer treatment father healthy children. (2021-01-19)

Mechanisms in the kidney that control magnesium and calcium levels discovered
The gene KCTD1 directs production of a protein that functions in the kidney to maintain a normal balance of magnesium and calcium in blood. Loss of KCTD1 impairs the ability of the kidney to properly absorb magnesium and calcium from urine in the kidney, leading to abnormally low magnesium and calcium blood levels, thereby triggering the parathyroid glands to secrete excess parathyroid hormone that in turn leads to metabolic bone disease. (2021-01-12)

Breaking bad: how shattered chromosomes make cancer cells drug-resistant
UC San Diego and Ludwig Cancer Research scientists describe how a phenomenon known as ''chromothripsis'' breaks up chromosomes, which then reassemble in ways that ultimately promote cancer cell growth. (2020-12-23)

Ludwig Cancer Research study reveals how ecDNA forms and drives cancer drug resistance
Researchers led by Ludwig San Diego Member Don Cleveland and Peter Campbell of the Sanger Center have solved the mystery of how free-floating circular DNA fragments, which are almost exclusively found in cancer cells, drive gene amplification to generate drug resistance in cancer. (2020-12-23)

Low-intensity exercise during adolescence may prevent schizophrenia
Researchers from the University of Tsukuba have found that low-intensity exercise, which is associated with improved mental function, has a protective effect against symptoms of schizophrenia in adolescent mice. These findings may facilitate the development of exercise programs to help prevent schizophrenia in humans. (2020-12-16)

HSS bone study sheds light on complications after spinal surgery
The microscopic structure of bone appears to predict which patients will experience poor outcomes after spinal fusion, according to a new study by researchers at Hospital for Special Surgery (HSS) in New York City. (2020-12-15)

Birth defects linked to greater risk of cancer in later life
People born with major birth defects face a higher risk of cancer throughout life, although the relative risk is greatest in childhood and then declines, finds a study published by The BMJ today. (2020-12-02)

Plastic contaminants harm sea urchins
Plastics in the ocean can release chemicals that cause deformities in sea urchin larvae, new research shows. (2020-11-30)

T-cell abnormalities in severe COVID-19 cases
There appears to be some kind of T cell abnormality in critically ill COVID-19 patients but specific details are unclear. To shed some light on the problem, researchers performed a genetic analysis of T cells from lung tissue of COVID-19 patients. They found abnormalities that resulted in T cell overreaction that may cause severe pneumonia. The research is expected to lead to new methods for avoiding severe pneumonia caused by coronavirus infections. (2020-11-20)

Missing the radiological forest for the trees
Even experienced radiologists, when looking for one abnormality, can completely miss another. The results, published in Psychonomic Bulletin & Review, show that inattentional blindness can befall even experts. (2020-11-18)

A change of heart -- new drug for HCM reduces heart mass
For the first time, a medication has impacted heart muscle thickness and function for patients with the most common inherited heart condition, hypertrophic cardiomyopathy, rather than simply addressing their symptoms. (2020-11-16)

AI tool improves breast cancer detection on mammography
Artificial intelligence (AI) can enhance the performance of radiologists in reading breast cancer screening mammograms, according to a new study. (2020-11-04)

Study identifies pitfall for correcting mutations in human embryos with CRISPR
The most detailed analysis to date of CRISPR genome editing in human embryos finds a significant risk of chromosomal abnormalities when using the technique at earliest stage of human development. (2020-10-29)

Stem cells: new insights for future regenerative medicine approaches
The study published in Open Biology unravels important data for a better understanding of the process of division in stem cells and for the development of safer ways to use them in medicine. (2020-10-28)

Reelin-Nrp1 interaction regulates neocortical dendrite development
Reelin exhibits a context-dependent function during brain development; however, its underlying mechanism is not well understood. Here, we found that neuropilin-1 specifically binds to the C-terminal region of Reelin and acts as a co-receptor for canonical Reelin-receptor. The Reelin-Nrp1 interaction is essential for proper dendritic development in superficial-layer neurons. This study provides evidence of the context-specific function of Reelin regulated by the C-terminal residues. (2020-10-15)

Blood tests could be developed to help predict pregnancy complications new study suggests
UCLA researchers say a blood test commonly used to detect fetal genetic abnormalities may help predict complications associated with pregnancy before symptoms develop. Their preliminary study, appearing in Epigenetics, links certain cell-free DNA signatures to adverse outcomes in pregnancy, including ischemic placental disease and gestational diabetes. (2020-10-13)

Cognitive behavioral therapy normalizes brain abnormality in OCD patients
UCLA scientists and colleagues studying the effects of cognitive behavioral therapy (CBT) discovered an abnormality in the brains of people with obsessive compulsive disorder (OCD) that may help to predict who is most likely to respond to CBT. (2020-10-13)

Urine-based liquid biopsy test outperforms urine cytology in detecting bladder cancer
Analysis of DNA copy number variants (CNVs) in the cells exfoliated in urine showed better sensitivity and similar specificity in detecting urothelial carcinoma compared with urine cytology (2020-10-09)

DNA test identifies genetic causes of severe fetal and newborn illness
A new study by University of California researchers shows the promise of high-throughput DNA-sequencing technologies to improve prenatal diagnosis and pregnancy outcomes for women who have experienced an abnormal prenatal ultrasound. (2020-10-07)

RTL1 gene a likely culprit behind temple and Kagami-Ogata syndromes
Researchers from Tokyo Medical and Dental University (TMDU) have found that Rtl1, which is a mouse ortholog of the human RTL1 gene, appears to be the major gene responsible for muscle and placental defects in models of Temple and Kagami-Ogata syndromes, which are serious genetic conditions. Theirs is the first study to demonstrate that a domesticated gene that is specific to placental mammals plays an important role in fetal and neonatal muscle development. (2020-10-06)

Hidden DNA fragment the 'trigger switch' for male development
Biology textbooks may need to be re-written, with scientists finding a new piece of DNA essential to forming male sex organs in mice. (2020-10-02)

NIH-funded study sheds light on abnormal neural function in rare genetic disorder
A genetic study has identified neuronal abnormalities in the electrical activity of cortical cells derived from people with a rare genetic disorder called 22q11.2 deletion syndrome. The overexpression of a specific gene and exposure to several antipsychotic drugs helped restore normal cellular functioning. The study sheds light on factors that may contribute to the development of mental illnesses in 22q11.2 deletion syndrome and may help identify possible targets for treatment development. (2020-09-28)

Stanford scientists solve secret of nerve cells marking a form of schizophrenia
A common genetic deletion boosts the risk for schizophrenia by 30-fold. Generating of nerve cells from people with the deletion has showed Stanford researchers why. (2020-09-28)

Unraveling the genome in 3D-space
Proper folding of extremely long chromosomal DNA molecules is crucial for the correct functioning of the cell. Scientists from the Gerlich lab at IMBA - Institute of Molecular Biotechnology of the Austrian Academy of Sciences - developed a groundbreaking method to map contact points between replicated DNA molecules, thereby elucidating how the genome is folded inside the nucleus of human cells. (2020-09-23)

Center for BrainHealth advances technique to distinguish brain energy molecules
Researchers examined how cells in the brains of people at risk for developing Alzheimer's disease make and use energy. Relationships between the brain's energy metabolism and the risk of Alzheimer's have been reported previously. But this is the first study to distinguish different energy molecules in the brain using high-powered imaging MRS at 7-Tesla. The findings from this study could help the development of tests for earlier detection and treatment of Alzheimer's disease. (2020-09-23)

People with anorexia and body dysmorphic disorder show brain similarities, differences
A new UCLA study shows partially overlapping patterns of brain function in people with anorexia nervosa and those with body dysmorphic disorder, a related psychiatric condition characterized by misperception that particular physical characteristics are defective. (2020-09-08)

Cancer's ongoing evolution
A new algorithmic approach reveals individual tumors continue to evolve and remodel their genomes, and this occurs across a broad range of tumor types. Identifying changes that benefit tumors and help them metastasize could help with future treatments. (2020-09-02)

Scientists develop first drug-like compounds to inhibit elusive cancer-linked enzymes
Structural biology techniques helped researchers target the nuclear receptor-binding SET domain family for the first time; its malfunction is associated with several types of cancer. (2020-08-31)

Discovered: Cellular pathway involved in resistance to Ebola virus and SARS-like coronaviruses
Researchers working in human cells have identified a new pathway that targets a common vulnerability in several different pandemic viruses. (2020-08-27)

NUS researchers develop new system for accurate telomere profiling in less than 3 hours
The novel STAR assay developed by NUS researchers can be used to rapidly determine telomere dysregulation in cancers and age-related diseases in clinical settings. This helps clinicians to make faster diagnosis and plan targeted treatments for patients. (2020-08-25)

Virtual imaging trials optimize CT, radiography for coronavirus disease (COVID-19)
According to ARRS' American Journal of Roentgenology (AJR), virtual imaging trials using computational patient models and a human phantom with coronavirus disease (COVID-19) abnormalities via multidiagnostic confirmation of SARS-CoV-2 infection yield simulations of 'realistic' texture and shape--suggesting that such trials could be utilized to compare CT and radiography, improve both screening and follow-up protocols, and train artificial intelligence tools. (2020-08-25)

After Stillbirth, New Genetic Analyses May Give Parents Answers
Columbia researchers have uncovered an array of new genes that cause stillbirth, significantly increasing the understanding of the genetic foundations of common, but little studied, condition. (2020-08-12)

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