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Detecting Disease-Causing Mutations in the Human Genome by Haplotype Matching
The authors describe a new strategy for detecting mutations that is based on comparing affected haplotypes with closely matched control sequences from healthy individuals, rather than with the human reference genome.
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PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy
The study findings highlight a role of phospholipase in neurodegenerative disorders.
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A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome
Abnormal FGFR3 signaling can cause human anomalies by promoting as well as inhibiting endochondral bone growth.
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Systems Biology Tackles The Mechanisms Of Cancer
Potential novel targets for anti-cancer therapy are revealed.
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Itching And Scratching
Dust mites produce an allergen that disrupts the skin's ability to act as a barrier to other allergens and environmental irritants.
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Recommendations Help Identify Patients Suitable For NSAID Treatment
Recommendations should help physicians to identify quickly whether or not a patient is suitable for treatment with nonsteroidal anti-inflammatory drugs (NSAIDs).
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Focus On Childhood Developmental Disorders
A special focus issue on childhood developmental disorders, including specific language impairment and dyslexia, autism, and the mental retardation syndrome fragile X, is presented.
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New Strategy For Controlling Inflammation
A previously unknown method of terminating immune responses is reported.
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New Breast Cancer Susceptibility Gene Identified
Women with mutations in a gene called BRIP1 have twice the normal risk of breast cancer.
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One Step Toward More Efficient Cloning
A one-step somatic cell nuclear transfer procedure using a differentiated cell as a nuclear donor is reported for the first time.
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Controlling The Insulin-Degrading Enzyme May Relieve Alzheimer's Disease
The structure of an enzyme that degrades insulin and amyloid-beta suggests a possible way to design drugs that combat the abnormal levels of these proteins in sufferers of diabetes or Alzheimer's disease.
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Drug Target For Obesity?
A molecule that makes mammals feel full up has been identified.
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