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Defect in Biological News

Pulmonary hypertension in children may result from reduced activity of gene regulator

... About 1 percent of children are born with a heart defect with half requiring surgery. Improved surgical ... created animal model of a congenital heart defect that causes too much pulmonary blood flow, they ... contraction, dilation and more. When a heart defect is the cause, pulmonary hypertension develops the ...

Low levels of vitamin B12 may increase risk for neural tube defects

... the risk of having a child with a neural tube defect compared to women with the highest B12 levels. ... paralysis. Another type, anencephaly, is a fatal defect in which the brain and skull are severely ... were pregnant with a child having a neural tube defect at the time the blood was taken. The second ...

Defectors take the car, cooperators go by bus

... cooperating if they use public transportation or defect if they selfishly choose to take their ... cumbersome items. If just a few individuals defect at this point, then they get the biggest reward, ... are happy to take the bus, and just a few people defect and drive by car, then there is a comfortable ...

Rare disease provides clues about enzyme role in arrhythmias

... corrected." Even though the calcium channel defect in Timothy syndrome is relatively tiny, the defect seriously affects the ability of the heart to keep a regular beat, Anderson said. "The defect causes the channel to close too slowly, and this ...

Gene therapy corrects sickle cell disease in laboratory study

... worldwide, arises because of a tiny genetic defect in the gene for beta-globin, a protein component of hemoglobin. This defect causes hemoglobin-containing red blood cells to ... a strain of mouse with basically the same genetic defect and symptoms as humans with sickle cell disease. ...

To fight the cancer before the tumor grows

... proteins in tumor cells in which a DNA repair defect has occurred. It is estimated that this repair defect is present in some 15 percent of all tumours. ... In about 15 percent of these tumors, there is a defect in certain repair mechanisms of the DNA that ...

Cigarette after Valentine snuggle deadlier for some

... affair, as new evidence emerges that a common defect in a gene significantly increases a smokers risk ... as 60 to 70 percent of the population has a gene defect that delivers a one-two punch to smokers: In a ... efficient removal of HDL caused by the CETP gene defect that puts people at higher risk of an early onset ...

Study characterizes eczema patients most at risk for dangerous viral infections

... a lack of antimicrobial proteins among eczema patients. The skin-barrier defect is believed to result in the greater allergic sensitization among eczema ... higher allergic sensitization among EH patients suggests the skin-barrier defect is particularly acute in those patients. The higher levels of infections ...

Bisphenol A exposure in pregnant mice permanently changes DNA of offspring

... in many common plastic household items, is known to cause a fertility defect in the mother's offspring in animal studies, and now researchers have found how the defect occurs. The results of the new study will be presented Saturday at The ...

Enzyme involved in inflammatory bowel disease discovered at Penn State College of Medicine

... the mouse model of IBD and in humans with active IBD. Bond explained, "The defect in the human meprin gene most associated with ulcerative colitis is in a ... of the meprin protein." The researchers concluded that a particular defect in the MEP1A gene is an indicator of vulnerability to IBD, particularly ...

Single gene defect can cause stroke, other artery diseases

... 1, 2009) For the first time, scientists have discovered a single gene defect that causes thoracic aortic aneurysms and dissections as well as early ... country. In the study, none of the family members without the ACTA2 defect had any vascular disease, helping to rule out other genetic or ...

Red pandas reveal an unexpected (artificial) sweet tooth

... reported that cats both domestic and wild can not taste sweets due to a defect in one of the genes that codes for the sweet taste receptor. The ... sweet receptor, Tas1r2 genes from these species did not show the defect found in lion and other cats. Because only primates were believed to ...

Cellular discovery may lead to targeted treatment for rare form of anemia

... failure to produce red blood cells. This failure is due to an intrinsic defect that makes the red blood cells prone to cell death before they mature. Red ... cell death. DBA has recently been attributed to a ribosomal protein defect that the UC team hypothesizes leads to abnormal activation of p53, causing ...

Blood test predicts chance of dementia

... actor Genetic research has shown previously that there is a genetic defect in chromosome 17 in a large percentage of the families with FTD. There are two genes in chromosome 17 that, if a defect occurs, cause a hereditable form of FTD. In 1998, defects were found in ...

'Freaks' help scientist unravel nature and nurture

... because its mother laid her eggs in a compost heap that was too warm; the defect was caused by an incubation temperature that was too high. Similarly, a ... may end up with an extra set of hands because of a mutation, but the same defect in a frog can be caused by a parasite. Or consider the fact that ...

Making flies sick reveals new role for growth factors in immunity

... cell type was not obvious under regular lab conditions. This type of defect is considered "cryptic"; a defect that is not immediately obvious because until the fly requires an immune ...

A second career for a growth factor receptor: keeping nerve axons on target

... Foundation Laboratories for Peptide Biology, the O'Leary team observed a defect in mice genetically engineered to lack p75. Through their synaptic ... to the superior colliculus, a major visual center in the brain. Such a defect in p75-null mice was puzzling: researchers have studied p75 for decades ...

Researcher helping to pioneer medical therapy for Fragile X Syndrome presents latest findings

... will be presenting research on the use of lithium to target the underlying defect in Fragile X Syndrome. Dr. Berry-Kravis runs the only Fragile X clinic in ... Open Label Treatment Trial of Lithium to Target the Underlying defect in FXS Fragile X Conference Atypical Autonomic Regulation in ...

Kids with autism may have gene that causes muscle weakness

... CHICAGO Some kids with autism may have a genetic defect that affects the muscles, according to research that will be presented at ... children does have significant defects in this area. Identifying this defect is important for understanding how genes that produce autism spectrum ...

Deadly genetic disease prevented before birth in zebrafish

... may be possible with therapeutic interventions that correct the genetic defect within a specific developmental window," Madsen said. The genetic ... code. The morpholinos prevent that interruption by patching over the defect so the gene can generate its normal product. "Consider the genetic code ...

Improved foam for varicose veins found to be safe in preliminary results from phase II trial

... WINSTON-SALEM, N.C. A small group of patients with a common heart defect who were treated for varicose veins with an injectable microfoam ... right-to-left shunt in their hearts a common, usually asymptomatic heart defect in about one-fourth of the population are at increased risk of foam ...

Mutation may cause inherited neuropathy

... also caused early-onset locomotion problems in the mice's hind legs, a defect that appears to be quite similar to some human neuropathies. "This gene ... chain 1, Dync1h, led to movement defects in the hind legs of mice. These defect resembled human neuropathies, said Popko, particularly some forms of ...

Scientists closer to making implantable bone material, thanks to new research

... at Imperial College London, says: "Many patients who have had bone removed because of tumours or accidents live in real pain. By repairing bone defect sites in the body with bone-like material that best mimics the properties of their real bone we could improve their lives immeasurably. Our study ...

DOE-funded research projects win 46 R&D 100 Awards for 2009

... of compiler technologies, allowing access to average software developers and scientists. ROSE enables users to build their own tools, including defect detection tools to uncover undetected bugs, code optimization tools to maximize program performance and program transformation tools that allow users ...

Brain malformations significantly associated with preterm birth, Wake Forest research shows

... of preterm birth were hydrocephaly, an abnormal buildup of cerebrospinal fluid (CSF) in the ventricles of the brain (65.2 percent); anencephaly, a defect in the closure of the neural tube during fetal development resulting in the absence of a major portion of the brain, skull, and scalp (57.7 percent); ...

New test can detect both genetic and chromosomal abnormalities in embryos

... test or the other," explained Prof Handyside. Karyomapping would also be quicker and cheaper. Currently, developing a PGD test for a single gene defect can take weeks or months, as scientists have to identify the exact patient or disease-specific genetic mutation first before screening for it, which ...

Scripps Research scientists observe human neurodegenerative disorder in fruit flies

... a novel function was at play. This is exactly what he and his scientific collaborators did. After showing that the disease was not caused by a defect in the synthetase's activity for protein synthesis, the researchers created the same mutations to the equivalent protein in the fruit fly Drosophila ...

Peripheral nerve repair with fat precursor cells led to wider nerves and less muscle atrophy

... occurred in the rats receiving the autograft, the guide, and the guide loaded with APCs. No regeneration was observed in any of the rats in which the defect was left untreated," said Marra. Their results also showed that transplanted human-derived APCs survived for up to 12 weeks in the injured ...

Embryology study offers clues to birth defects

... these findings may lead to new therapeutic or preventative measures to combat congenital limb defects, such as Holt-Oram syndrome, a birth defect characterized by upper limb and heart defects. ...

Genetically corrected blood cells obtained from skin cells from Fanconi anemia patients

... The research demonstrates that, for the first time, in the case of a genetic disease such as Fanconi anemia it is possible to correct the genetic defect in patient-specific skin cells by converting them into cells similar to embryonic stem cells (iPS cells) which later can be differentiated towards ...

Treatment for extreme nausea, vomiting during pregnancy

... to quell symptoms of nausea and vomiting than droperidol. Importantly, they found no evidence that either of these medications increased the birth defect rate compared to women who received no medication. As expected, metoclopramide was not associated with other serious side effects. "This study ...

New study overturns orthodoxy on how macrophages kill bacteria

... own, naturally occurring ROS, Slauch said. In contrast, deleting the gene encoding the periplasmic superoxide dismutase, SodC, conferred the same defect regardless of whether the cytoplasmic SodA/SodB were present or absent, showing that its function is independent of the cytoplasm. Moreover, ...

Genetic switch potential key to new class of antibiotics

... of bacteria to produce a molecule called queuosine. In many organisms, queuosine or "Q" enables accurate gene expression by overcoming a built-in defect (tRNA wobble) in the mRNA-ribosome-tRNA system charged with translating genes into proteins. Without Q many important bacteria lose their ability to ...

Ma and Pa solutions to global warming

... the others will not provide a lasting solution and could make matters worse. In fact the US is facing a single crisis brought on by an overall design defect in the modern industrial machine, he adds. Farmers can siphon stuff from nature's life cycle better than anybody. Exploiting this life skill ...

Gene discovery could lead to male contraceptive

... specifically the very vigorous hyperactive motion the sperm uses when it is entering the egg during fertilization. "Our research suggests that the defect in sperm hyperactivity that is seen in mice without CATSPER1 will also occur in humans with the genetic mutation," Hildebrand said. "Identification ...

Targeted drug therapy prevents exercise-induced arrhythmias

... atrial fibrillation. It worked. In isolated heart cells, flecainide blocked the ryanodine receptor and the calcium "leak" (the underlying molecular defect in CPVT), and it completely prevented ventricular arrhythmias in the mouse model of CPVT. "So we knew that this established drug specifically ...

Hebrew University professor's work leads to FDA approval for product

... are 350,000 to 400,000 children with congenital cardiac abnormalities. Many neonatal and infant patients must undergo multiple surgeries before their defect is corrected, while other children require additional operations as they grow. The REPEL-CV Adhesion Barrier product gives physicians another tool to ...

A paradigm shift in immune response regulation

... It causes the skin to be very thin and the perspiratory glands to malfunction. In some cases it is combined with immune deficiency. The molecular defect is a mutation in the NEMO gene, which blocks the activation of the NF-κB pathway in epidermal and immune cells. ...

Research yields potential target for cancer, wound healing and fibrosis

... These beta-1 tail mutations are thought to disrupt the ability of the beta-tail to interact with their recruited proteins. The team found a defect in assembling fibronectin fibrils for the majority of the beta-1 integrin tail mutations. Further studies focused on studying two cell lines that ...

Scientists discover why teeth form in a single row

... which encodes one of many transcription factors that turn genes on or off. "Knocking out" (deleting) the Osr2 gene resulted in cleft palate, a birth defect where the two halves of the roof of the mouth fail to join up properly, leaving a gap. Secondly, and surprisingly, the Osr2 "knockout" mice developed ...
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