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Use of within-array replicate spots for assessing differential expression in microarray experiments
A method is proposed for extracting more information from within-array replicate spots in microarray experiments by estimating the strength of the correlation between them. Expand
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Positional cloning of the APECED gene
Autoimmune polyglandular syndrome type I (APS 1, also called APECED) is an autosomal-recessive disorder that maps to human chromosome 21q22.3 between markers D21S49 and D21S171 by linkage studies. WeExpand
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Heritable GATA2 Mutations Associated with Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia
We report the discovery of GATA2 as a new myelodysplastic syndrome (MDS)-acute myeloid leukemia (AML) predisposition gene. We found the same, previously unidentified heterozygous c.1061C>TExpand
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RANK signals from CD4+3− inducer cells regulate development of Aire-expressing epithelial cells in the thymic medulla
Aire-expressing medullary thymic epithelial cells (mTECs) play a key role in preventing autoimmunity by expressing tissue-restricted antigens to help purge the emerging T cell receptor repertoire ofExpand
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In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.
Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) is an autosomal dominant familial platelet disorder characterized by thrombocytopenia and a propensity toExpand
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A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia
Somatic alterations of the lymphoid transcription factor gene PAX5 (also known as BSAP) are a hallmark of B cell precursor acute lymphoblastic leukemia (B-ALL), but inherited mutations of PAX5 haveExpand
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Aire regulates the transfer of antigen from mTECs to dendritic cells for induction of thymic tolerance.
To investigate the role of Aire in thymic selection, we examined the cellular requirements for generation of ovalbumin (OVA)-specific CD4 and CD8 T cells in mice expressing OVA under the control ofExpand
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Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla.
The AIRE gene (autoimmune regulator), coding for a putative transcriptional regulatory factor, is mutated in autoimmune-polyendocrinopathy-candidiasis ectodermal dystrophy (APECED). We haveExpand
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Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis.
The production of mature germ cells capable of generating totipotent zygotes is a highly specialized and sexually dimorphic process. The transition from diploid primordial germ cell to haploidExpand
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Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.
BACKGROUND Autoimmune polyendocrine syndrome type 1 (APS-1) is a multiorgan autoimmune disorder caused by mutations in AIRE, the autoimmune regulator gene. Though recent studies concerning AIREExpand
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