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Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease.
TLDR
It was found that mutations in the SH2D1A gene are responsible for XLP but that there is no correlation between genotype and phenotype or outcome and unidentified factors, either environmental or genetic, contribute to the pathogenesis of XLP. Expand
X-Linked Lymphoproliferative Disease: Twenty-Five Years after the Discovery
The X-linked lymphoproliferative disease (XLP), one of six described X-linked immunodeficiencies, stems from a mutation at Xq25 which renders males impotent to mount an effective immune response toExpand
The myofibroblast: a quarter century after its discovery.
Myofibroblasts from diverse pathologic settings are heterogeneous in their content of actin isoforms and intermediate filament proteins.
TLDR
The findings suggest that contrary to myofibroblasts of normally healing granulation tissue and normally healed scars, my ofibro Blasts of pathologic conditions characterized by chronic retraction express always immunochemical features indicative of smooth muscle differentiation. Expand
Macrophage priming and lipopolysaccharide-triggered release of tumor necrosis factor alpha during graft-versus-host disease
TLDR
Investigation of macrophage activity and tumor necrosis factor alpha production during graft-vs- host disease (GVHD) provides evidence that during GVHD M phi are primed as a result of the allogeneic reaction and that endogenous LPS therefore triggers Mphi production of TNF-alpha resulting in the symptoms characteristic of acute GV HD. Expand
Bronchopulmonary dysplasia of the premature baby
TLDR
To characterize the cells involved in the repair process of the premature lung, immunocytochemical techniques were employed and the lungs of 39 autopsied premature babies who had neonatal respiratory distress syndrome (RDS) were examined. Expand
Spontaneous diabetes mellitus syndrome in the rat. I. Association with the major histocompatibility complex
TLDR
Data demonstrate (a) MHC linkage with spontaneous diabetes in this rat model; (b) penetrance similar to the human disease; and (c) a possible association of MHC haplotype with pancreatic inflammation as well as insulin content in nondiabetic F2 siblings. Expand
Translocation t(1;3)(p36.3;q25) Is a Nonrandom Aberration in Epithelioid Hemangioendothelioma
TLDR
The presence of clonal karyotypic abnormalities supports a neoplastic origin for the epithelioid variant of hemangioendothelioma and could lead to the identification of the gene(s) central to this neoplastics process. Expand
Adamantinoma-like Ewing's sarcoma: genomic confirmation, phenotypic drift.
TLDR
Genotypic and phenotypic findings delineate a novel Ewing's sarcoma histologic variant, "adamantinoma-like Ewing’s Sarcoma," as well as a novel interphase molecular cytogenetic/ immunocytochemical approach, revealed the presence of the 11 ;22 translocation in the nuclei of cytokeratin immunoreactive cells. Expand
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