News tagged with gene mutation
Related topics: genes , breast cancer , mutations , ovarian cancer , cancer cells
Mutations in autism susceptibility gene increase risk in boys
Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD).
Autism spectrum disorders
Jul 12, 2012 |
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Scientists identify gene linked to facial, skull and cognitive impairment
A gene whose mutation results in malformed faces and skulls as well as mental retardation has been found by scientists.
Genetics
Jul 05, 2012 |
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The prevention of hereditary breast and ovarian cancer by PGD is 'feasible'
Preimplantation genetic diagnosis (PGD) for the breast cancer genes BRCA1/2 is now feasible and established, with good success rates for those treated, according to investigators from the reproduction, oncology and genetics ...
Cancer
Jul 02, 2012 |
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Study finds new gene mutations that lead to enlarged brain size, cancer, autism, epilepsy
A research team led by Seattle Children's Research Institute has discovered new gene mutations associated with markedly enlarged brain size, or megalencephaly. Mutations in three genes, AKT3, PIK3R2 and PIK3CA, were also ...
Genetics
Jun 29, 2012 |
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New mouse model helps explain gene discovery in congenital heart disease
Scientists now have clues to how a gene mutation discovered in families affected with congenital heart disease leads to underdevelopment of the walls that separate the heart into four chambers. A Nationwide Children's Hospital ...
Genetics
Jun 26, 2012 |
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Gene mutations cause massive brain asymmetry
Hemimegalencephaly is a rare but dramatic condition in which the brain grows asymmetrically, with one hemisphere becoming massively enlarged. Though frequently diagnosed in children with severe epilepsy, the ...
Cancer
Jun 24, 2012 |
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Study explains functional links between autism and genes
A pioneering report of genome-wide gene expression in autism spectrum disorders (ASDs) finds genetic changes that help explain why one person has an ASD and another does not. The study, published by Cell Press on June 21 ...
Genetics
Jun 21, 2012 |
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Fragile X gene's prevalence suggests broader health risk
The first U.S. population prevalence study of mutations in the gene that causes fragile X syndrome, the most common inherited form of intellectual disability, suggests the mutation in the gene – and its associated health ...
Genetics
Jun 14, 2012 |
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Mapping genes: Study finds new risk factors for neurodegenerative diseases
Using a new and powerful approach to understand the origins of neurodegenerative disorders such as Alzheimer's disease, researchers at Mayo Clinic in Florida are building the case that these diseases are primarily caused ...
Genetics
Jun 07, 2012 |
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Mutations impair childhood growth and development by disrupting organization of chromosome pairs
Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins ...
Genetics
May 29, 2012 |
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New drug shrinks brain tumours in melanoma patients
(Medical Xpress) -- Australian researchers have reported promising results with a new drug that shrinks brain tumours in melanoma patients. Their findings are published in The Lancet medical journal today. ...
Cancer
May 21, 2012 |
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Alteration of gene may disrupt our bodies internal rhythm, causing sleep disorder
(Medical Xpress) -- Researchers at Virginia Commonwealth University have found that a gene known as RAI1 controls one of the most important genes in circadian rhythm, CLOCK.
Pediatrics
May 16, 2012 |
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Prdm16: A novel gene important for craniofacial development
In the United States, a baby is born with a facial cleft every hour, of every day of the year! Such birth defects result from both gene mutations and environmental insults. PRDM16 is a transcription factor originally described ...
Medical research
May 02, 2012 |
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Agent reduces autism-like behaviors in mice
National Institutes of Health researchers have reversed behaviors in mice resembling two of the three core symptoms of autism spectrum disorders (ASD). An experimental compound, called GRN-529, increased social ...
Autism spectrum disorders
Apr 25, 2012 |
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First gene linked to common form of psoriasis identified
Scientists led by Washington University School of Medicine in St. Louis have identified the first gene directly linked to the most common form of psoriasis, a chronic skin condition.
Genetics
Apr 19, 2012 |
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