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The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
Haemochromatosis is a common recessive disorder characterized by progressive iron overload, which may lead to severe clinical complications. Most patients are homozygous for the C282Y mutation in HFEExpand
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ATR-X Syndrome Protein Targets Tandem Repeats and Influences Allele-Specific Expression in a Size-Dependent Manner
ATRX is an X-linked gene of the SWI/SNF family, mutations in which cause syndromal mental retardation and downregulation of α-globin expression. Here we show that ATRX binds to tandem repeat (TR)Expand
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Synthetic amyloid-β oligomers impair long-term memory independently of cellular prion protein
Inability to form new memories is an early clinical sign of Alzheimer’s disease (AD). There is ample evidence that the amyloid-β (Aβ) peptide plays a key role in the pathogenesis of this disorder.Expand
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Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment
Gene expression during development and differentiation is regulated in a cell- and stage-specific manner by complex networks of intergenic and intragenic cis-regulatory elements whose numbers andExpand
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Regulation of leukocyte recruitment by the long pentraxin PTX3
Pentraxins are a superfamily of conserved proteins involved in the acute-phase response and innate immunity. Pentraxin 3 (PTX3), a prototypical member of the long pentraxin subfamily, is a keyExpand
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Unmanipulated haploidentical transplants compared with other alternative donors and matched sibling grafts.
We studied 459 consecutive patients with hematologic malignancies, median age 44 years (range, 15 to 71 years), who underwent transplantation with grafts from identical sibling donors (SIB; n = 176),Expand
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Carrier‐dependent and Ca2+‐dependent 5‐HT and dopamine release induced by (+)‐amphetamine, 3,4‐methylendioxy‐methamphetamine, p‐chloroamphetamine and (+)‐fenfluramine
1 The mechanism underlying 5‐hydroxytryptamine (5‐HT) and/or dopamine release induced by (+)‐amphetamine ((+)‐Amph), 3,4‐methylendioxymethamphetamine (MDMA), p‐chloroamphetamine (pCA) andExpand
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An N-terminal Fragment of the Prion Protein Binds to Amyloid-β Oligomers and Inhibits Their Neurotoxicity in Vivo*
Background: The cellular prion protein (PrPC) could be a toxicity-transducing receptor for amyloid-β (Aβ) oligomers. Results: N1, a naturally occurring fragment of PrPC, binds Aβ oligomers, inhibitsExpand
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A Recessive Mutation in the APP Gene with Dominant-Negative Effect on Amyloidogenesis
β-Amyloid precursor protein (APP) mutations cause familial Alzheimer's disease with nearly complete penetrance. We found an APP mutation [alanine-673→valine-673 (A673V)] that causes disease only inExpand
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Riluzole enhances the activity of glutamate transporters GLAST, GLT1 and EAAC1.
Riluzole exerts a neuroprotective effect through different mechanisms, including action on glutamatergic transmission. We investigated whether this drug affects glutamate transporter-mediated uptake,Expand
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