Researchers identify dozens of rare genetic variants in ion channel genes associated with epilepsy, as well as nearly identical variations in healthy individuals. The study suggests that a combination of altered channels can mask individual defects, leading to a complex interplay between gene variants and the development of epilepsy.
Researchers at Baylor College of Medicine identified a genetic 'lock and key' mechanism in social amoebae that enables cells to recognize kin from non-kin. The proteins TgrB1 and TgrC1, with immunoglobulin folds, act as a lock and key, facilitating cooperation and aggregation among genetically similar cells.
Researchers at Baylor College of Medicine use whole genome sequencing to identify the gene causing a rare genetic disorder, enabling fine-tuned treatment for the twins. The technique also improves diagnosis and care for patients with individualized therapies.
Researchers at Baylor College of Medicine identified the α3β4 nicotinic receptor as a key player in the appetite suppression pathway. When nicotine binds to this receptor, pro-opiomelanocortin neurons are activated, leading to reduced food intake.
Researchers at Baylor College of Medicine and Texas Children's Hospital mapped the interactome for autism spectrum disorder, identifying hundreds of new protein interactions. The study also confirms previously known connections and reveals unsuspected connectivity between genes associated with idiopathic and syndromic autism.
Researchers at Baylor College of Medicine have found that neurons need the MeCP2 protein throughout their entire existence. Without it, even as an adult, neurons can develop Rett-like behaviors and die prematurely. This discovery opens up new possibilities for treating Rett syndrome patients by providing a steady supply of the protein.
Researchers at Baylor College of Medicine have identified over 11,000 protein interaction networks that control gene regulation in human cells. These networks, which consist of thousands of multi-protein complexes, play a crucial role in regulating the expression of genes and producing proteins.
Researchers have identified a master gene controlling lysosome and autophagosome function, shedding light on rare genetic diseases and neurodegenerative disorders. The discovery may lead to new therapeutic approaches for inherited conditions like Tay-Sachs and Alzheimer's disease.
Researchers at Baylor College of Medicine found that a natural product called DLPC stimulates LRH-1 activity, improving regulation of glucose and fat within the liver. In mice with insulin resistance, DLPC decreased fatty livers and lowered glucose levels, suggesting it may provide a treatment for prediabetes.
A study published in PLoS ONE found that a shorter anogenital distance may indicate impaired testicular development and function. The research suggests that this non-invasive measurement could be used to evaluate patients with reduced reproductive potential, potentially linking gestational exposures to adult testicular function.
Research by Dr. Wei Ji Ma and colleagues found that the brain can perform visual search tasks near optimally, even in complex environments. By weighing different pieces of visual information based on reliability, humans can quickly integrate data to detect targets.
Researchers using DNA microarrays to diagnose developmental disabilities may unexpectedly identify cases of incest. Children conceived through incest exhibit a lack of heterozygosity, resulting from the sharing of genetic material between family members.
The study defines similarities and differences between the two populations, highlighting a neocentromere that appears in both populations. Orangutans have more genetic variation within themselves than humans, with less structural rearrangement in their genome.
Researchers discovered a continuum of cells with varying levels of PPAR gamma and lipids, contradicting the long-held theory that PPAR gamma equals fat. This finding has implications for type 2 diabetes treatment and may lead to the development of new drugs targeting coactivators.
Researchers discovered that removing ZIP proteins protects brain cells from seizures and other insults. Zinc enters cells through ZIP transporters, and its removal is an effective way to protect memory circuits.
Researchers at Baylor College of Medicine discovered that thioredoxin-like 2 is highly expressed in cancer cells and helps protect them from oxidative stress. This protein plays a crucial role in cancer cell growth and survival, making it a promising target for future anti-cancer therapies.
Researchers discovered SRC-1, a steroid receptor coactivator, plays a crucial role in regulating the liver's glucose production. The study found that mice lacking SRC-1 have impaired glucose production, leading to hypoglycemia.
Researchers at Baylor College of Medicine and UT Austin used molecular evolution analysis to identify the source of HIV infections in two criminal cases. They found that a single virus, with up to 75% of infections resulting from a single ancestral strain, could be linked to the infected individuals.
A study in mice reveals that loss of the protein MeCP2 in inhibitory nerve cells reproduces nearly all features of Rett syndrome, a devastating neurological disorder. The lack of MeCP2 impairs communication between neurons, leading to cognitive deficits, breathing difficulties, and repetitive behaviors.
A new primary care model called the patient-centered medical home has the potential to reduce diagnostic errors by focusing on teamwork, communication, and patient empowerment. The model emphasizes comprehensive and coordinated care, facilitated by partnerships between patients, their physicians, and other healthcare professionals.
A team of researchers has discovered a protein called Ronin that recruits a co-regulator to bind to a specific DNA sequence, enabling the growth of embryonic stem cells. This finding may also contribute to understanding cancer growth and development.
The project has released pilot data on human genetic variation from 2,500 people worldwide. Researchers have discovered that rare variations account for much of the burden of disease in the human population.
Researchers found that gamma interferon prompts the activation of hematopoietic stem cells, which produce immune system cells to combat infections. Chronic infections like tuberculosis and HIV/AIDS may lead to bone marrow exhaustion due to sustained activity by these stem cells.
A study at Baylor College of Medicine found that eliminating tumor suppressor C/EBP alpha is key to cancer development in the aging liver. Another protein, gankyrin, is elevated first, leading to degradation of C/EBP alpha and allowing uncontrolled growth.
The Baylor College of Medicine team has successfully sequenced 178 microbial reference genomes representative of the human body. These reference genomes will help scientists understand and contextualize the data accumulated over time, providing valuable insights into the complex relationship between humans and their microbiota.
Researchers discovered a new factor, DksA, that prevents conflict between DNA replication and transcription in E. coli. When present, DksA tags along with RNA polymerase and removes it from the track when DNA polymerase approaches, allowing for stable replication.
Researchers at Baylor College of Medicine found that bacterial cells 'vote' on their fate based on sub-cellular variables, rather than random chemical events. This discovery challenges the long-held assumption that cell fate decisions are determined by environmental noise.
Researchers have identified NLRC5 as a key regulator of two critical immune pathways, NF-κB and type I interferon signaling. Reducing NLRC5 levels leads to increased immune responses and antiviral immunity, highlighting its role in regulating innate immunity.
Researchers sequenced Dr. James Lupski's genome to identify the gene responsible for his form of Charcot-Marie-Tooth syndrome, affecting nerves in limbs, hands, and feet. The discovery also found that a person carrying one recessive mutation is susceptible to carpal tunnel syndrome.
Researchers at Baylor College of Medicine report that hematopoietic stem cell subtypes exist and act as previously thought, contradicting the idea of a single stem cell giving rise to all types of blood cells. The study reveals distinct populations of stem cells over time, with implications for treatment.
The pea aphid's genome shows evidence of duplicated genes, suggesting a 'back-up' system for genetic material. This allows for modifications through mutations, helping the aphid adapt to its environment and complex life cycles.
The SRC-3 gene enhances breast cancer growth and invasion by activating cell motility, allowing cancer cells to invade surrounding tissue. Researchers found that the gene enables an alternative form of its coactivator protein to function at the cell membrane, leading to increased cancer spread.
Scientists at Baylor College of Medicine discovered that adjacent neurons in the brain do not synchronize their action potentials, contrary to previous beliefs. This finding provides insight into how the brain processes information efficiently by introducing a 'decorrelated state' that allows for uncorrelated activity.
Researchers at Baylor College of Medicine and Stanford University discovered how Group II chaperonins in archaea close folding chambers to initiate protein folding events. The molecular nanomachine requires ATP to open and close its chambers, leading to the release of functional proteins.
Researchers block COUP-TFII to suppress tumor blood vessel growth and tumor formation. This discovery identifies a new pathway for fighting tumors and offers hope for developing new treatments, including antagonists that can intervene to halt tumor growth.
The Math1 gene controls the framework for perceiving external and internal body parts, including proprioception, interoception, hearing, balance, and arousal. This discovery has implications for understanding automatic movement and responses to internal and external stimuli.
Researchers found that the master gene Math1 is critical to the development of medulloblastoma, a deadly disease that affects children and young adults. Removing or inactivating Math1 may work as a treatment, but its effectiveness depends on the stage of brain development.
Researchers found that adding a genetic sonogram to non-invasive prenatal screening increases the detection rate of Down syndrome by up to 98%, while decreasing false positive rates. This maximizes the capacity for noninvasive detection with currently available technology.
Researchers found a gene deletion in chromosome 15 associated with significant learning and behavioral problems, including developmental delay, mental retardation, and epilepsy. The study suggests that the nicotinic receptor plays a crucial role in these conditions.
Researchers developed an immune system cell therapy that targets Epstein-Barr virus, providing long-term protection to patients with severely compromised immune systems. The therapy, effective for up to nine years, was found to prevent lymphomas associated with EBV infection in over 100 patients.
Researchers discovered that dendritic cells in the lung provoke destructive T-cells that attack elastin, causing lung tissue death and emphysema. The study found a link between systemic inflammation and cardiovascular diseases associated with smoking.
Researchers at Baylor College of Medicine have identified a potassium channel KvLQT as the molecular trigger for sudden death in epilepsy. This discovery could lead to a simple genetic screening test to identify patients at risk, offering effective treatments such as beta blockers and cardiac pacemakers.
Researchers at Baylor College of Medicine found that nicotine strengthens neuronal connections in the brain, creating memory associations between environmental cues and smoking behavior. This process is thought to underlie why former smokers often experience strong cravings when exposed to triggers such as bars or meals with friends.
A novel gene called Flower was discovered to play a crucial role in vesicle uptake in neurons, allowing for rapid neurotransmission. The gene's corresponding protein is present in synaptic vesicles and enables calcium influx, initiating exocytosis.
Researchers have discovered a gene signature in breast cancer stem cells that could be used to develop new drugs. The study found that this gene signature is enriched in human breast tumors after hormone treatment, making it a promising target for therapeutic intervention.
A large protein called Tweek is crucial for recycling and endocytosis in the synaptic process, allowing neurotransmitters to be transported to neurons. The study found that increasing PI(4,5)P2 levels reverses the defect in endocytic processes, highlighting the importance of Tweek in maintaining cellular homeostasis.
Researchers found that diabetic patients with heart failure who have blood glucose levels slightly higher than recommended have the lowest risk of death. In contrast, those with levels too high or too low are at increased risk of mortality.
DNA exists in a slightly underwound state, and its status changes in waves generated by normal cell functions such as replication, transcription, repair, and recombination. The researchers found that DNA can be underwound to the point where one of two bases flips out, relieving stress on the molecule.
Researchers at Baylor College of Medicine have identified a single gene mutation responsible for catastrophic epilepsy, a condition marked by severe muscle spasms, persistent seizures, and mental retardation. The discovery provides a new model for studying the disease and has sparked hope for potential treatments.
Scientists identify a DNA template switching mechanism that can result in rearrangements of genes and exons, leading to copy number variation. This process, called fork stalling and template switching, occurs during cell division and can cause significant changes to the genome.