A new rare genetic condition has been discovered, characterized by severe infections and lung disease in infants. The NSMCE3 gene mutations were found to be responsible for the devastating symptoms, offering a potential explanation and diagnostic tool for this deadly disease.
Researchers discover DXZ4 repeats play a crucial role in superloop formation on the inactive X chromosome. The discovery sheds light on female development and has implications for 3D genome engineering.
A new mouse model of bronchopulmonary dysplasia has been developed to study pulmonary hypertension, enabling the detection of the disease at an earlier time point through echocardiography tests. This breakthrough could lead to improved diagnoses and more effective treatments for premature infants.
Researchers created a high-resolution atlas of rhesus monkey brain development, revealing how gene expression changes across time. The study highlights the importance of understanding primate brain development to identify neurodevelopmental processes involved in disorders like autism and schizophrenia.
Researchers have developed a new mouse model to study the role of the entorhinal cortex in spatial memory. The model showed that silencing the entorhinal cortex led to scrambled memory codes and impaired navigation. This study provides insights into how dysfunction of this circuit may contribute to memory loss in Alzheimer's disease.
The Baylor College of Medicine has been awarded over $1 million from the National Institutes of Health to lead a study on people infected with Zika virus. The study aims to inform diagnostic and infection control measures, as well as Zika vaccine development.
A study published in Journal of Clinical Oncology reveals that short remission telomere length is associated with delayed blood count recovery in children with Acute Myeloid Leukemia (AML) after chemotherapy. The research aims to identify high-risk children and develop targeted treatments to prevent complications.
Researchers found that head-on collisions between DNA replication and transcription increase mutation rates, particularly in the promoter region. This susceptibility can lead to genetic changes affecting an organism's health, from bacteria to humans.
A study published in the Proceedings of the National Academy of Sciences found that 54 mouse testis-enriched genes are not crucial for male fertility. This discovery helps scientists narrow down the number of possible genes involved in male infertility, allowing them to focus on essential genes first.
Researchers found that negative feedback loops act as a shock absorber to buffer damage from mutations, allowing genes to mutate without compromising function. This mechanism may foster long-term adaptation while reducing immediate fitness risk, with implications for evolution and cancer treatment.
Researchers found that adding a specific bacterial species to the guts of mice with autism-like social behavior reversed their deficits, improving social interaction and oxytocin levels. The study suggests using probiotics as a potential treatment for neurodevelopmental disorders like autism spectrum disorder.
Research from Baylor College of Medicine found that Notch activation promotes metastasis in prostate cancer by upregulating FoxC2, a molecule important for metastatic potential. The study used a mouse model with prostate-specific loss-of-function Pten to demonstrate the role of Notch in prostate cancer progression.
Researchers have designed a new approach to treating B cell malignancies by targeting specific B cell markers with modified T cells. The treatment showed promising results, resulting in complete remission in two patients and stable disease in four others.
Researchers discovered a novel gene, TMEM230, associated with Parkinson's disease that affects neurotransmitter trafficking between neurons. This new link may lead to novel treatments and better understanding of neurodegenerative diseases.
A multi-institutional team has completed the first large-scale proteogenomic study of breast cancer, linking DNA mutations to protein signaling and identifying genes that drive cancer. The study highlights the power of integrating genomic and proteomic data to yield a more complete picture of cancer biology.
Researchers identified key metabolic pathways altered in prostate cancer, with a potential therapeutic target for castration-resistant prostate cancer. Studying tumor metabolism offers new possibilities for treatment.
Breast cancer tumor-initiating cells use mTOR signaling to recruit myeloid-derived suppressor cells (MDSCs), which are involved in suppressing the body's response against tumors. This interaction helps researchers understand the events leading to tumor growth and metastasis, identifying potential therapeutic targets.
Researchers warn that herbal remedies containing Aristolochia, used for over 2,000 years, can lead to kidney cancer and other health issues in genetically susceptible individuals. The authors call for global action to evaluate the safety and efficacy of botanical products.
A multi-institutional team of over 190 researchers analyzed genomic data from nearly 300,000 people to identify genetic variants associated with subjective well-being, depressive symptoms, and neuroticism. The study found three genes linked to happiness, two genes linked to depression, and 11 genes linked to neuroticism.
Researchers at Baylor College of Medicine developed a new class of small molecule drug SI-2 that accelerates the destruction of cancer signaling molecule SRC-3, leading to slower cell proliferation and migration. The study suggests SI-2 has potential for improving cancer treatment with low toxicity to normal cells and animals.
Mutations in the RERE gene can cause developmental problems typical of 1p36 deletion syndrome, a relatively common cause of intellectual disability. The study identified 10 patients with RERE mutations, who exhibited similar medical conditions to those with 1p36 deletions.
Researchers identified a new hormone, asprosin, generated by fat, which instructs the liver to release glucose into the blood stream. This discovery could lead to a new treatment for type 2 diabetes through immunologic sequestration.
The study reveals a new activation mechanism for protein kinase G I (PKG I), which may prevent unnecessary inhibition and enhance its activity. This discovery could lead to the design of drugs that target PKG I, providing new therapeutic options for diseases associated with PKG I dysfunction.
Dendritic cells, the 'generals' of T cell responses, produce and release CTLA-4, a brake on T cells that inhibits anti-cancer responses. Removing this brake with ipilimumab enables robust T cell priming against cancer.
Researchers found that female mice exercising during pregnancy had offspring more physically active as adults, suggesting movement influences fetal brain development and lifelong activity. The study supports an environmental role in fetal development and may offer a strategy to counter physical inactivity and obesity.
Researchers discovered that altering one atom in a natural inhibitor, InsP6, increases its ability to neutralize toxins by 26-fold. The study highlights the importance of water and hydrogen bonding in molecular interactions.
Baylor College of Medicine researchers have developed a new mathematical tool that combines biochemistry and computational analysis to identify specific structural changes in the dopamine 2 receptor, which helps maintain its structure and function throughout an evolutionary time scale. This discovery opens the possibility for better dr...
Researchers developed a new laboratory method to study the function of GABA in brain processes controlling appetite and metabolism. The study found that mice lacking GABA in their hypothalamus, a key brain area regulating appetite, experienced significant weight loss and improved glucose tolerance.
Researchers have identified nine distinct subtypes of kidney cancer, each with unique molecular pathways and patient survival outcomes. These findings hold promise for personalized medicine by identifying specific targets for therapies.
A social amoeba uses DNA nets to trap and kill invading bacteria, a mechanism similar to that seen in mammalian immune cells. This discovery highlights the convergent evolution of immune systems across species.
A study by Baylor College of Medicine found that genetic testing can identify the cause of childhood cancer in 40% of patients, including mutations not previously associated with the disease. The test can also reveal potential clinical targets for treatment and risk of hereditary diseases.
Researchers at Baylor College of Medicine discovered a new potential treatment for MECP2 duplication syndrome by normalizing MeCP2 levels using antisense oligonucleotides. This approach largely reversed behavioral, molecular, and other deficits in mice, providing hope for human treatment.
Diagnostic errors affect 1 in 20 adults per year, missing common diseases like infections, heart disease, and cancer. Researchers recommend systems changes to improve diagnosis, including reforming teaching of diagnosis, strengthening teamwork, and promoting a culture of diagnostic safety.
Researchers at Baylor College of Medicine discovered that estrogen receptor β promotes the growth of endometriosis by allowing abnormal cells to escape immune surveillance. Elevated levels of this protein were found in human tissues and studies in mice showed a similar effect, highlighting a new target for effective treatment.
Researchers found no association between cesarean delivery and lower at-birth fracture rates in infants with osteogenesis imperfecta. The study, involving 540 patients, used large sample size to evaluate multiple covariates, revealing no differences in fracture rates based on delivery method.
A Baylor College of Medicine team has reported the first successful genome surgery, changing how the human genome is folded inside the cell nucleus. By manipulating specific DNA motifs, the team was able to destroy, move, and create new loops in the genome.
Researchers at Baylor College of Medicine studied tiny DNA minicircles containing only 336 base pairs to understand biologically active DNA. They found that the coiling caused many different shapes, including sharp bends and figure-8s, and showed how these structures facilitate DNA interactions with proteins and anticancer drugs.
Researchers identify nanoparticulate carbon black as main culprit in emphysema. The material accumulates in dendritic cells and antigen-presenting cells, causing inflammation and DNA damage. Studies find that size and dose of particles affect toxicity.
Researchers at Baylor College of Medicine found that infancy's gut development can have lifelong implications on intestinal health. The study discovered that epigenetic changes and the gut microbiome play a crucial role in shaping intestinal stem cells, which control gut physiology throughout life.
A team of scientists linked children with rare genetic mutations to a shared complex of proteins, shedding light on the cause of their health issues. The study highlights the power of social media in connecting patients and researchers, driving innovation in genetics research.
Researchers at Baylor College of Medicine have discovered a new way to kill cancers driven by the MYC gene, which is responsible for aggressive behavior in many types of malignancies. By inhibiting the spliceosome, a complex machine within cancer cells, scientists can target and destroy tumor cells without harming normal tissues.
Researchers developed electronic triggers that analyzed patient data and flagged individuals at risk of delayed follow-up. The study found that triggered clinicians had more timely diagnostic evaluations for both prostate and colon cancer.
Researchers found a rare genetic variant in the A2ML1 gene associated with an increased risk of middle ear infections. The study, led by Dr. Regie Santos-Cortez, identified the variant in 37 Filipinos and two European-Americans with otitis media, suggesting it may be the result of a founder effect from Spain.
Scientists at Baylor College of Medicine have created a new disease model that closely resembles the human mechanisms and effectively studies hypercholesterolemia. The study successfully cured the disorder using gene therapy, offering a promising approach for treating metabolic diseases.
Researchers have found a molecular 'switch' that safely controls severe side effects associated with haploidentical stem cell transplantation. The switch, inducible caspase 9 (iC9), is activated by a single dose of bio-inert chemical and clears symptoms without jeopardizing graft function.
Researchers have developed a new therapy using naïve cells to prevent cytomegalovirus, Epstein-Barr virus, and adenovirus infections in cord blood transplant patients. The treatment has shown safety and efficacy in clinical trials.
Researchers discovered that MeCP2 binds to non-CG methylation patterns in the adult brain, which is unique to maturing and adult nervous systems. This finding explains why Rett syndrome symptoms appear after one to two years of age.
Mutations in calcium channel genes disrupt autophagy in neurons, leading to neurodegeneration. Calcium channels play a key role in regulating autophagic vesicle fusion with lysosomes, maintaining neuronal homeostasis.
By disabling the Wnt signaling pathway, researchers may be able to repair damaged white matter in the brain, a potential breakthrough in treating cerebral palsy and multiple sclerosis. The study's findings suggest that targeting the Daam2/PIP5K interaction could accelerate oligodendrocyte differentiation and promote myelination.
For the first time, researchers have visualized the molecular machine made up of the estrogen receptor, its coactivator SRC-3, another coactivator called p300, and DNA. This 3-D image revealed the spatial relationships among these molecules, suggesting how the receptor recruits the co-activators and activates genes.