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defects in Biological News

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

MAY 21, 2008, WHITE PLAINS, NY Babies born preterm were more than twice as likely to have major birth defects as full-term infants, according to a new analysis of nearly 7 million U.S. live births published online this week in the Springer journal Maternal and Child Health Journal. Preterm bi...

Stowers Institute researchers identify gene linked to vertebral defects in patient populations

Stowers Institute researchers Karen Staehling-Hampton, Ph.D., Managing Director of Molecular Biology, and Olivier Pourqui, Ph.D., Investigator, collaborated with colleagues from around the world to show that genes known to cause spinal mutations in chick and mouse model systems also play an import...

Study examines genetic defects linked to body abnormalities in patients with childhood cancer

Children with cancer have a higher prevalence of body abnormalities, such as asymmetric lower limbs and curvature of the spine, suggesting that the genetic defect responsible for the abnormality may play a role in the development of cancer, according to a study in the January 2 issue of JAMA. ...

Certain diseases, birth defects may be linked to failure of protein recycling system

CINCINNATI - A group of signaling proteins known as Wnt - which help build the human bodys skin, bone, muscle and other tissues - depend on a complex delivery and recycling system to ensure their transport to tissue-building cell sites, according to a study at Cincinnati Childrens Hospital Medical...

Embryology study offers clues to birth defects

LA JOLLA, Calif., June 9, 2009 -- Gregg Duester, Ph.D., professor of developmental biology at Burnham Institute for Medical Research (Burnham), along with Xianling Zhao, Ph.D., and colleagues, have clarified the role that retinoic acid plays in limb development. The study showed that retinoic aci...

Folic acid to prevent congenital heart defects

This release is available in French . Montreal, May 14th 2009 - The Canadian policy of fortifying grain products with folic acid has already proved to be effective in preventing neural tube defects. The latest article published in the British Medical Journal by a group of researchers fr...

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

Children born to women who have low blood levels of vitamin B12 shortly before and after conception may have an increased risk of a neural tube defect, according to an analysis by researchers at the National Institutes of Health, Trinity College Dublin, and the Health Research Board of Ireland. ...

Case Western Reserve University uncovers genetic basis for some birth defects

CLEVELAND November 10, 2008 A multidisciplinary research team at Case Western Reserve University led by Gary Landreth, Ph.D., a professor in the School of Medicine's Department of Neurosciences, has uncovered a common genetic pathway for a number of birth defects that affect the development of th...

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

WASHINGTON, Oct. 30 -- Two groups of researchers, one in the United States and one in Australia, are announcing the development of new optical techniques for visualizing the invisible processes at work in several human diseases. The published results are the first to showcase the Optical Society's...

Immunosuppressant further linked to birth defects

A new study documents malformations seen in an infant born to a kidney transplant recipient who had taken mycophenolate mofetil (MMF), a widely used immunosuppressant available commercially as Cellcept. The findings suggest a specific birth defect pattern particular to this drug, reinforcing its p...

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

WHITE PLAINS, N.Y., JAN. 9, 2008 Not enough American women understand that consuming the B vitamin folic acid every day can help prevent serious birth defects, and only 40 percent are taking daily multivitamin supplements containing this essential nutrient beginning before pregnancy, two recent s...

Solvent exposure linked to birth defects in babies of male painters

Men who paint for a living may be placing their unborn children at increased risk of birth defects and low birth weight. A study of construction workers in the Netherlands, conducted in part by the University of Alberta in Edmonton, Canada, links low birth weight and birth defects to paternal, a...

Montreal researchers identify defects of immune cells

Researchers at Université de Montréal and the Institut de recherches cliniques de Montréal (IRCM) have successfully identified a defective immune cell population that determines susceptibility to candidiasis, a common and often debilitating infection in individuals infected with the human immunodef...

Cellular Defects in Premature Aging Disease are Reversible

Cells affected by Hutchinson-Gilford Progeria Syndrome (HGPS) -- a disease associated with premature aging -- can be made healthy again, according to findings by scientists at the National Cancer Institute (NCI), part of the National Institutes of Health (NIH). Using specially modified segments of ...

Genetic defects give the immune system the green light to attack the pancreas

Scientists at Joslin Diabetes Center have found genetic regions that, when defective, allow the immune system to attack the pancreas ?the first in a series of mis-steps that lead to type 1 diabetes. Armed with these findings published March 22 in the journal Immunity, the researchers are now trying...

Little-known protein found to be key player

...P is a rare genetic condition that affects fewer than one million people worldwide. It's marked by a partial paralysis of the lower extremities due to defects in the body's longest cells, the neurons that run from the spine through the legs. Daga said atlastin's role in building and maintaining a healthy ...

LSUHSC shows for first time infant inhalation of ultrafine air pollution linked to adult lung disease

...ns, including one associated with COPD and steroid-resistant asthma, and also caused proteins to misfold, rendering them dysfunctional. These genetic defects are linked to structural changes in the lung, airflow limitations, and permanent changes in immune responses. "It is no surprise that elevations in...

Researchers gain insight into mechanism underlying Huntington's

...fically targets TNR hairpin removal in the daughter DNA strand, ensuring the fidelity of the TNR sequences in the parental strand. It is proposed that defects or inadequacies in the HPR system may be responsible for TNR instability in the disease state. ...

'Show me the money!' MDA greenlights grants

... questions." In San Diego, Hristelina Ilieva of the Ludwig Institute for Cancer Research has been awarded $180,000 over three years to study how defects in the blood-brain barrier contribute to amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease. Ilieva hopes to find a way to use genetic thera...

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

...etween the brain and the skull. In humans, they are associated with genetic defects of large segments of chromosomes, which makes isolating the specific genes ...oma 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 ca...

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

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

New test can detect both genetic and chromosomal abnormalities in embryos

...Karyomapping is a universal method for analysing the inheritance of genetic defects in the preimplantation embryo without any prior patient or disease specific... 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

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

Trio of signals converge to induce liver and pancreas cell development in the embryo

...t's a good place to start." In the near term, the team also aims to generate liver and pancreas cells for research and to screen drugs that repair defects or facilitate cell growth. ...

Study characterizes eczema patients most at risk for dangerous viral infections

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

Mouse model provides clues to human language development

...he usefulness of the German Mouse Clinic. Only through broad-based, comprehensive analysis can scientists recognize even unexpected effects of genetic defects and thus identify additional functions of known genes. ...

Fate in fly sensory organ precursor cells could explain human immune disorder

...ldrich syndrome. Since the gene WASp is mutated in the patients with Wiskott-Aldrich syndrome, the work done by Bellen and his colleagues suggest that defects in the presentation of Delta could explain the loss and dysfunction of T-cells in patients with Wiskott-Aldrich syndrome. ...

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

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

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

...ll initially focus on ways to improve the healing of wounds, segmental bone defects and massive soft tissue defects. Traumatic injuries that affect the arms, l...hether 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 silk...

A new mouse model provides insight into genetic neurological disorders

...CMT and HMN patients. Their hope is that this mouse can be used to study what causes these diseases and how it might effectively be treated. Mice with defects in some of this protein have problem with grip strength and motor skills while symptoms are more pronounced in animals that carry the mutation in all ...

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

...he 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 signal...

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 cance...e 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. Sen...

Gladstone scientists identify key factors in heart cell creation

... studies had shown that chromatin remodeling complexes were important," said Dr. Bruneau. "Mice with lower levels of these complexes have severe heart defects and defective cardiac differentiation. These observations prompted us to look at Baf60c in heart differentiation." The effect was dramatic. Additi...

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 c...

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

...tients. For example, the mice are born with heart defects due to thickening of the cardiac valves, and they ...lso 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, "Mult...

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

...better 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 s...

Stem cell therapy makes cloudy corneas clear, according to Pitt researchers

...re able to remodel scar-like tissue back to normal. "Our experiments indicate that after stem cell treatment, mouse eyes that initially had corneal defects looked no different than mouse eyes that had never been damaged," Dr. Funderburgh said. The ability to grow millions of the cells in the lab could...

Gene therapy appears safe to regenerate gum tissue

...se studies will commence in the next year. The paper, called "Adenovirus Encoding Human Platelet-Derived Growth Factor-B Delivered to Alveolar Bone defects Exhibits Safety and Biodistribution Profiles Favorable for Clinical Use," is partially available online. It's scheduled to appear in the May issue of ...

Locking parasites in host cell could be new way to fight malaria

...id Roos, PhD, the work was broadened to include Toxoplasma gondii , which causes a parasitic disease called toxoplasmosis, the leading cause of birth defects worldwide and harmful to people with compromised immune systems. The CDC estimates more than 60 million people living in the U.S. carry T. gondii ....

Health benefits, consequences of folic acid dependent on circumstances

...hown that greater dietary intake of the B-vitamin, folate, offers protection against the development of certain common cancers and reduces neural tube defects in newborns, opening new avenues for public health interventions that have a great impact on health. However, folate's central role as an essential fa...
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