Researchers identified MECP2 duplication syndrome as a cause of recurrent infections and neurological problems in infant boys. The study found that excess MeCP2 protein suppressed gamma interferon production, leading to partial immunodeficiency. This deficiency made it difficult for the immune system to fight off certain infections, su...
Researchers discovered Crag's crucial role in maintaining photoreceptor integrity by regulating the trafficking of rhodopsin. The protein activates Rab11, which enables the transport of vesicles loaded with freshly made rhodopsin, resetting the light-sensing mechanism.
Researchers have identified a key piece of the Notch signaling pathway, specifically a domain within the Notch receptor that is crucial for determining which ligand to bind. This finding provides a molecular handle for future studies and potential therapeutic targets for diseases such as cancer.
Researchers found that high levels of COUP-TFII can overcome a natural barrier to prostate cancer progression, allowing tumor cells to grow and spread throughout the body. The study suggests that COUP-TFII is an important 'second hit' for the progression of prostate cancer and metastasis.
A recent study found that nearly three-quarters of gene mutations occurred within the past 5,000 to 10,000 years, indicating a significant impact on human evolution.
Research teams at Baylor College of Medicine used cryo-electron tomography to study the effects of genetic mutations on rod sensory cilium architecture. The findings suggest that aberrant trafficking of proteins is responsible for photoreceptor degeneration, highlighting a new model for understanding ciliopathies.
Researchers at Baylor College of Medicine discovered a positive feedback loop between Notch and TGF beta proteins that maintains basal cell population in the prostate. Disrupting this loop may contribute to prostate cancer initiation.
The project profiles rare and common genetic variations in 1,092 individuals from 14 populations, capturing up to 98% of sequences for rare gene variants occurring in at least 1% of the population.
The study identified mutations in genes involved in chromatin modification and axon guidance, which are not previously linked to pancreatic cancer. New information on these genes could lead to exciting treatment strategies for the disease.
Researchers link common herbicide atrazine to increased risk of choanal atresia, a congenital abnormality affecting breathing. Mothers living in Texas counties with high atrazine application levels are 80% more likely to have children with the condition.
A study led by Baylor College of Medicine researchers found that the master gene Atoh1 is essential for regulating breathing in newborn and adult mice. The lack of this gene in specific neurons leads to poor breathing and increased mortality rates.
A new direction in research for male contraceptives has been identified using the small molecule JQ1, which blocks chromatin remodeling necessary for sperm production. Studies show that mice treated with JQ1 have lower sperm counts and reduced sperm motility, paving the way for potential development of a male contraceptive pill.
A study by Baylor College of Medicine researchers has identified cytarabine as the most effective and least toxic chemotherapy treatment for adult Langerhans cell histiocytosis patients. The study, published in PLOS ONE, reviewed health records for 58 adults with the disease and compared the effectiveness of three chemotherapy treatments.
Researchers have identified Lyl-1 as a crucial transcription factor in producing early T-cell progenitors, which are the first cells on the path to becoming active T-cells. Without Lyl-1, these cells are severely impaired, and mice lacking the gene exhibit T-cell deficiency and leukemia-like symptoms.
A team of researchers at Baylor College of Medicine has identified a distal axonal cytoskeleton as the boundary that ensures AnkyrinG clusters properly. The findings suggest that AnkyrinG cannot move beyond this boundary, resulting in proper formation of the axon initial segment and subsequent neural function.
Researchers found a deletion in the TMLHE gene that may contribute to milder forms of autism, affecting about one-half of one percent of autism cases. The study suggests that dietary carnitine levels from birth to age three may modify the risk of autism.
A team of researchers led by Dr. Brendan Lee discovered a treatment that bypasses the enzyme deficiency causing argininosuccinic aciduria, allowing patients to receive nitric oxide through medication. This breakthrough has shown promise for treating similar conditions in hypertensive teens and individuals with organ damage.
Baylor College of Medicine researchers found that the P[14] strain of rotavirus uses the histo-blood group antigen A as a receptor to infect human cells. Laboratory tests showed that cells with this antigen were easily infected, while those without it were not.
A team of researchers has identified a novel transcripitonal cascade that controls gliogenesis, the process by which glial cells are generated from neural stem cells. This discovery provides new insights into how glial cells support neuronal function and are implicated in neurological disorders such as Retts Syndrome, ALS, and Multiple...
A recent study published in Nature sequenced exomes of 175 trios with autism spectrum disorder and found many new gene mutations, but few definitive causes. The researchers observed an increased protein-protein connectivity among affected genes and implicated two genes, KATNAL2 and CHD8, as potential risk factor genes.
Researchers at Baylor College of Medicine have developed a semi-automated protocol called pathwalking to generate initial models of protein folds from near-atomic resolution images. This approach enables the rapid generation of ensemble models that can be optimized for full atomic models.
Myotonic dystrophy is caused by a mutation that causes toxic RNA to accumulate in cells. Antisense oligonucleotides have been shown to be effective in cell culture and mice by degrading the toxic RNA. The treatment will need to be refined for systemic delivery to patients with myotonic dystrophy.
A study published in Nature found a link between the circadian clock and sudden cardiac death, revealing that the controller of the circadian clock, Klf15, affects potassium flow out of heart muscle cells. This can lead to abnormal heart rhythms and increased risk of deadly arrhythmias.
A team of scientists developed the Drosophila Genetic Reference Panel to study complex traits like cold tolerance and starvation resistance. The project reveals hundreds of novel candidate genes, shedding light on the genetic basis of these traits.
Researchers found Substance P, a pain transmitter, causes seizures in brain-infected patients; blocking its receptor may provide treatment relief. The study suggests a new approach for managing seizures in these patients.
Researchers at Baylor College of Medicine and the University of Michigan have discovered that fruit flies' pheromones affect their sexual attractiveness differently as they age. In a study, male flies preferred younger females with more attractive pheromones.
Researchers at Baylor College of Medicine discover that ROCK1 protein activates mitochondrial fission, leading to diabetic kidney disease. The study reveals a key metabolic pathway involved in the progression of kidney disease in diabetes.
Researchers at Baylor College of Medicine have uncovered a mechanism that helps explain how intracellular membranes fuse. They used purified yeast organelles to study the process and found that a tethering complex called HOPS plays a crucial role in activating SNARE proteins.
Researchers at Baylor College of Medicine have identified the specific immune response induced by cigarette smoke as the cause of emphysema. The study found that antigen-presenting cells and genes like interleukin-17 play a crucial role in the development of the disease.
A compound called AICAR has been found to prevent heat-induced deaths in mice with a gene mutation that makes them sensitive to heat. The study's findings suggest that AICAR could protect young athletes and soldiers from heat-related illnesses, potentially saving lives during exercise.
Researchers found that Crh and Oprm1 genes are implicated in anxiety and social behavior problems caused by excess MeCP2 protein in mice. Reducing levels of these genes alleviated symptoms, suggesting a potential treatment approach for patients with MeCP2 duplication syndrome.
Researchers found that heart problems in Rett syndrome originate from the loss of the Rett gene (MeCP2) in nerve cells, not heart muscle cells. Abnormalities in brain activity can lead to cardiac malfunctions and death.
Researchers at Baylor College of Medicine developed a memory-enhancing drug by inhibiting PKR activity, which boosts excitability and enhances learning and memory. In mice, PKR inhibition led to increased synaptic activity caused by gamma interferon, mimicking the effect of a 'memory pill'.
Researchers have developed ways to exploit the addictions of cancers to kill them without harming normal tissues. The study identified SUMOylation as a key biochemical process involved in coping with cancer cell stress, and inhibiting this enzyme may be a therapeutic strategy for myc-driven cancers.
A study by Baylor College of Medicine reveals the benefits of genetic evaluation in managing retinoblastoma, a childhood eye cancer. The research showed that genetic analysis helped identify hereditary cases and determined at-risk relatives, reducing unnecessary screening.
Researchers discovered that brief periods of exercise in early life increased survival rates in mice with spinocerebellar ataxia 1 (SCA1), a devastating inherited disorder. Exercise reduced levels of capicua, a protein partner of ataxin1, which improved symptoms and extended lifespan.
Researchers have discovered that lab-grown embryonic stem cells express the protein Blimp1, which represses differentiation and enables them to form cells of almost any type. This finding could help inform the development of induced pluripotent stem cells, a new type of stem cell derived from adult cells.
A genomic map of constrained elements in 29 mammals reveals new insights into the development of species and the importance of genetic conservation. The study identified 3,788 candidate new exons and found possible functions for about 60 percent of DNA bases.
Researchers discovered that longer flanking repeat regions and timing of genetic recombination affect the risk of genomic disorders. Studies on Smith-Magenis syndrome and Potocki-Lupski syndrome found correlations between chromosome length and genetic material loss or duplication.
Researchers found a shared, unusual genomic architecture in patients with severe diseases, including MECP2 duplication syndrome and Pelizaeus-Merzbacher Disease. This structure is associated with increased genetic material dosage and makes the disorder worse.
Researchers develop a comprehensive genetic model that integrates various types of genetic variation, including single gene changes, chromosomal alterations, and de novo mutations. This framework recognizes the importance of both inherited and new genetic variants in disease susceptibility.
A team of researchers at Baylor College of Medicine identified a sudden chromosomal catastrophe that occurs early in development, leading to developmental delay and cognitive disorders. The study found that this catastrophe shares similarities with massive genomic rearrangements in cancer.
The study analyzed over 300 tumor samples and found that 96% had mutated TP53 genes, while BRCA1 and BRCA2 were mutated in 30% of patients. The researchers identified a set of genes associated with worse or better patient outcomes, predicting survival rates.
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.