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Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism
A new neonatal diabetes syndrome associated with congenital hypothyroidism, congenital glaucoma, hepatic fibrosis and polycystic kidneys, is decribed.
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Mutations In CEP290, Which Encodes A Centrosomal Protein, Cause Pleiotropic Forms Of Joubert Syndrome
Mutations were identified in the CEP290 gene in five families with variable neurological, retinal and renal manifestations.
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How And When Should Genetic Tests For Cancer Be Used?
Two experts in the use of genetic testing call for primary-care physicians and oncologists to work with medical geneticists and genetic counsellors, to identify the best clinical course of action.
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New Techniques For Chromosomal Damage Control
Two articles describe tools for the detection of large-scale structural rearrangements in individual chromosomes.
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Urinary Tract Microbicide Prevents Infection
When bacteria enter the urinary tract, cells there secrete antimicrobial factors to thwart infection.
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Tumors That Suppress Immunity
Report shows how late-stage tumors can promote the development of 'suppressor' cells that prevent other immune cells from effectively fighting against the tumor.
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New Class Of Small RNAs Revealed
Two groups of researchers have unearthed a whole new class of small RNA molecules manufactured by the mammalian genome.
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Enzymes Make Their Mark
Members of a protein subfamily have been found to have demethylase activity.
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Virus Entry Proteins Visualized
Researchers reveal a fresh three-dimensional look at the spike proteins on HIV's coating that allow it to bind and fuse with human cells.
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Yellow Card For RNA Interference
Study shows that the long-term expression of RNA fragments in mice can end up killing the animals.
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Mechanism Links Protein Misfolding To Brain Disease
Researchers identify a chemical reaction that may lead to the formation of damaging protein clumps in the brain.
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