defects in Biological News

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

... is a strong association between congenital brain defects and preterm birth, leading investigators to ... Institutes of Health, March of Dimes Birth defects Foundation and the Pratt Family Foundation, ... to document such an association because brain defects can be hidden within the cranium and may remain ...

Mouse model provides a new tool for investigators of human developmental disorder

... For example, the mice are born with heart defects due to thickening of the cardiac valves, and they ... allows scientists to understand how structural defects might contribute to WHS symptoms, as is the case in the heart defects and swallowing difficulties. The report, ...

Immigrant women may be at higher risk of having a baby with a birth defect

... educate new mothers and prevent neural tube defects in their babies." Neural tube defects are birth defects of the spinal cord and brain, otherwise known as ...

A splice of life

... including muscular dystrophy, are caused by defects in this genetic encoding process known as RNA ... togetherquite often in alternative arrangements. defects in this process can have disasterous ... affected when things go awry. Indeed, defects in this process have recently been implicated in ...

Lipid droplets lead a Spartin existence

... or bind to TIP47. It remains to be seen whether defects in LD function are the root cause of the defects seen in Troyer patients, but author Paul Bieniasz points to precedents of defects in lipid turnover triggering neuronal disorders, ...

Blood test predicts chance of dementia

... occurs, cause a hereditable form of FTD. In 1998, defects were found in the gene for the tau protein, a ... Van Broeckhoven's team discovered hereditable defects in the gene for the progranulin protein. They predicted that people with these hereditable defects produce only half of the normal amount of ...

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

... sufficient amounts of B12. Neural tube defects are a class of birth defects affecting the brain and spinal cord. One type, ... acid to reduce the occurrence of neural tube defects in the U.S. population. The study appears in ...

Nearly a century later, new findings support Warburg theory of cancer

... not the causes, of cancer since no mitochondrial defects could be found that were consistently associated ... injury in tumors and link mitochondrial lipid defects to the Warburg theory of cancer," according to ... therapies that could exploit the bioenergetic defects of tumor cells without harming normal body cells. ...

More freedom to take risks: DFG funds the first Reinhart Koselleck Projects

... substances can be generalised to apply to defects in solids. This may make it possible to stabilise certain atoms and molecules in materials with defects and to develop novel material properties, for ... it possible to reduce the energy of formation of defects to zero a problem that is also of interest in ...

Case Western Reserve University uncovers genetic basis for some birth defects

... a common genetic pathway for a number of birth defects that affect the development of the heart and ... brain and heart are relatively common congenital defects and frequently arise due to genetic errors that ... for ERK2 in neural crest cells had developmental defects resembling those of human patients with a ...

OSA's ISP launches with research on breathing disorders and congenital heart defects

... BEATS OF A DEVELOPING HEART Congenital heart defects are responsible for more deaths in the first year ... says Davis. Understanding how congenital heart defects arise would be a boon for humanity, Davis says, ... earlier interventions for people born with heart defects saves lives and improves the quality of life. ...

Newly discovered molecular switch helps decide cell type in early embryo development

... new avenues for studying the causes of birth defects and cancer in humans. Writing about their study ... works, and what happens in the way of birth defects or disease when it becomes unbalanced should Sens ... fate decisions, and look for the causes of birth defects and disease." Although Hox genes have long ...

Potential therapy discovered for hypophosphatasia, a congenital form of rickets

... form of the TNAP gene would ease the skeletal defects of HPP. The Milln laboratory, in collaboration ... mechanism that leads to skeletal and dental defects of HPP is now generally understood," said Dr. ... laboratory are focused on reversing the bone defects in mice once the disease is quite advanced. ...

Analysis of millions of US births shows association between birth defects and preterm birth

... more than twice as likely to have major birth defects as full-term infants, according to a new analysis ... each year, and the rate continues to rise. Birth defects and preterm birth are the leading causes of ... smaller studies. The causes of most birth defects are still not known, says Margaret Honein, PhD, ...

Ceramic, heal thyself

... raises the possibility of engineering mobile defects in ceramics to enhance radiation tolerance," ... zirconium oxides that contains random structural defects called "vacancies." The defects occur because yttrium has a smaller electrical ...

Kids with autism may have gene that causes muscle weakness

... A total of 24 of the children, or 65 percent, had defects in the process by which cells produce and ... in the muscles, or oxidative phosphorylation defects in the skeletal muscles. Most children with ... a subset of these children does have significant defects in this area. Identifying this defect is ...

Immunosuppressant further linked to birth defects

... described in the literature regarding these defects had mothers on MMF because of lupus nephritis. ... infant who had cleft lip and palate, as well as defects of the jaw, eyes and ears, including no external ... she needed hearing aids. The pattern of defects seen in this infant is very similar to previous ...

Integral Vision, Inc. Announces SharpEye(TM) Order From New Customer

... provides analysis of functional and cosmetic defects in the display to assure quality in the ... system will be used by the customer to inspect defects in LCD displays of various sizes. "We are very ... that provides analysis of functional and cosmetic defects in the display to assure quality in the ...

New folic acid seal helps women choose enriched grain foods to help prevent birth defects

... before pregnancy is crucial because birth defects of the brain and spine known as neural tube defects (NTDs), such as spina bifida, can occur in the ... the FDA issued the mandate in 1998, neural tube defects (NTDs), including spina bifida, have declined by ...

Mutation may cause inherited neuropathy

... functioning of sensory nerve cells, can cause defects in mice that may provide crucial clues leading to ... coding for one part of dynein protein have severe defects in proprioception, the ability to perceive the spatial orientation of body parts. These defects caused a significant reduction in the number of ...

Study identifies pathway required for normal reproductive development

... National Academy of Sciences, the team describes defects in a gene called PROK2 (prokineticin 2) in human ... two brothers and a sister had identical defects in both copies of the PROK2 gene. Further study ... mutation. So, it looks like additional gene defects or environmental cues modify how these syndromes ...

Dogs, humans, put heads together to find cure for brain cancer

... the brain and the skull. In humans, they are associated with genetic defects of large segments of chromosomes, which makes isolating the specific genes ... is dog chromosome 17, which correlates with part of human chromosome 1. defects of this chromosome are involved in almost 70 percent of human meningioma ...

New test can detect both genetic and chromosomal abnormalities in embryos

... is a universal method for analysing the inheritance of genetic defects in the preimplantation embryo without any prior patient or disease ... patient treatment. For the first time, the inheritance of both single gene defects and chromosomal abnormalities can be detected simultaneously at the single ...

ICSI or IVF: Babies born from frozen embryos do just as well

... impair offspring outcome." The malformations ranged from heart defects to defects caused by hereditary factors and sporadic genetic mutations or ...

Study characterizes eczema patients most at risk for dangerous viral infections

... at risk for serious complications of smallpox vaccinations, and point to defects in the skin barrier and antimicrobial-protein production as possible ... An emerging model of eczema highlights the importance of skin-barrier defects and a lack of antimicrobial proteins among eczema patients. The ...

Scientists uncover mode of action of enzyme linked with several types of cancer

... this by gaining or losing specific chromosomes, or by inducing structural defects in their genome," explains Damien D'Amours, Principal Investigator at IRIC ... polo kinase is associated with cancers, thereby suggesting a link between defects in chromosome condensation and the formation of tumours. "Pharmaceutical ...

New center at Georgia Tech aims to improve recovery of soldiers with severe injuries

... initially focus on ways to improve the healing of wounds, segmental bone defects and massive soft tissue defects. Traumatic injuries that affect the arms, ... bone marrow-derived stem cells can be used in the body to heal large defects in bone and cartilage if they are inserted in fiber mesh scaffolds and ...

Why the thumb of the right hand is on the left hand side

... early developmental stage such as the formation of just one central eye. defects in the Hedgehog signaling pathway in humans are a cause for one of the most common birth defects holoprosencephaly. "Hedgehog genes are not new in evolution and the ...

Folic acid to prevent congenital heart defects

... shows that folic acid also decreases the incidence of congenital heart defects by more than 6%. According to Raluca Ionescu-Ittu, a PhD candidate on ... databases, the researchers showed that the rate of congenital heart defects between 1999 and 2005 was 1.47 per 1000 births compared to 1.64 per 1000 ...

UNC study identifies genetic cause of most common form of breast cancer

... of Medicine and UNC Lineberger Comprehensive Cancer Center have found that defects in one gene, called p18, may override the rest, eventually leading to ... results of the research appear in the May 2009 issue of Cancer Cell . defects in the p18 gene have been observed in different types of human cancer. ...

MIT: Jeremy Nathans to deliver Scolnick Prize lecture

... discovered how genes control the normal development of the retina, and how defects in these genes disrupt the function and survival of retinal cells. These studies have revealed several defects that lead to human retinal diseases including Stargardt disease, the most ...

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

... disease also can be deadly, researchers say as the high blood flow these defects produce pummels the lungs, turning flexible pulmonary blood vessels into ... heart defect that's causing the problem. Other babies don't have heart defects but still are in deep and immediate trouble at birth. One reason is ...

Claudin 11 stops the leaks in neuronal myelin sheaths

... mice. They found that although claudin 11 deficiency caused no gross defects in the appearance of the myelin sheath, it slowed electrical signalsat ... axons are mostly found in the CNS, the authors speculate that defects in claudin 11 could be associated with deficits in cognition and ...

Hairspray is linked to common genital birth defect, says study

... link between hairspray and hypospadias, one of the most common birth defects of the male genitalia, where the urinary opening is displaced to the ... up until the twelfth week of pregnancy in order to prevent neural tube defects such as spina bifida. Previous smaller studies had suggested that ...

Microarray analysis improves prenatal diagnosis

... not seen before and not inherited from the parents, in fetuses with birth defects identified on the prenatal ultrasound. In one, the array findings were interpreted as likely unrelated to the birth defects and in the other they were thought to cause the defects. In the third ...

New blood test for Down syndrome

... that accurately detected Down syndrome and two other serious chromosomal defects in a small study of 18 pregnant women. If confirmed in larger trials, they ... the risk of miscarriage. As a result, more infants with chromosomal defects are now being born to younger women. Researchers have been working for ...

Hopkins researchers piece together gene 'network' linked to schizophrenia

... its associated eye and and kidney problems but also does cause behavioral defects in some patients," says Katsanis. It was Hopkins psychiatrist Nicola ... to Sawa, "brought it all together" by realizing that the behavioral defects seen in Bardet-Biedl Syndrome patients and the molecular interaction of ...

UC Davis researchers define characteristics, treatment options for XXYY syndrome

... were that 19.4 percent had cardiac abnormalities such as congenital heart defects and mitral valve prolapse, 87.6 percent had dental problems such as severe ... and frustration. While their sons suffered everything from heart defects to learning disabilities, they could only point doctors and teachers to a ...

UT-Houston's Northrup and colleagues uncover genetic link to spina bifida

... This is important from a practical standpoint because neural tube defects are more common in pregnancies complicated by maternal diabetes and ... States, Mexican-American women have the highest rates of neural tube defects and they are also at increased risk for obesity and adult-onset diabetes, ...

Biocapture surfaces produced for study of brain chemistry

... other large biomolecules. Next, tether molecules are inserted into the defects that naturally occur in the SAM. Finally, a small molecule, in this case ... serotonin, is chemically linked to the tether molecules. Since the defects in the SAM occur at irregular but controllable intervals, serotonin ...