Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024141 (systemic lupus erythematosus)
 44,322 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In 16 patients with anetoderma, a clinicohistologic entity related to a local dermal defect of elastic tissue, old lesions did not heal, and new lesions often continued to form for many years, despite various forms of treatment. Systemic lupus erythematosus, which occurred in one patient, must be ruled out in patients with anetoderma. Discoid lupus erythematosus occurred later in one patient. Other associated findings, noted in one patient each, included cataract, congenital hip dislocation, congenital fusion of the vertebrae at C2-3, diverticulum of the midesophagus, Addison's disease (before the onset of anetoderma), and mitral valve prolapse. Our results and a review of the literature indicate that patients with anetoderma must be examined for associated eye, bone, heart, pulmonary, digestive tract, and endocrine abnormalities for a better assessment of their skin disorders.
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PMID:Anetoderma. Clinical findings, associations, and long-term follow-up evaluations. 646 9

CD30, as a member of the tumor necrosis factor (TNF) receptor family, is expressed on the surface of activated lymphoid cells. CD30 overexpression is a characteristic of lymphoproliferative diseases such as Hodgkin's/non-Hodgkin's lymphomas, embryonal carcinoma, and a number of Th2-associated diseases. The CD30 gene has been mapped to a region of the murine genome that is involved in susceptibility to systemic lupus erythematosus. Functionally, CD30 may play a role in the deletion of autoreactive T cells. We were interested in determining the molecular nature of CD30 overexpression. Sequence comparison has revealed significant identity between the TATA-less human and murine CD30 promoters; they share a number of common consensus binding motifs. Transfection assays identified three regions of transcriptional importance; the region between position -1.2 kb and -336 bp, containing a CCAT microsatellite sequence, a conserved Sp1 site at positions -43 to -38, and a downstream promoter element (DPE) at positions +24 to +29. EMSA and DNase I footprinting showed specific DNA-protein interactions of the CD30 promoter with the Sp1 site and the CCAT repeat region. The DPE element was shown to be essential for start site selection. We conclude that the conserved Sp1 site at -43 to -38 is associated with maximum reporter gene activity, the DPE element is required for start site selection, and the CCAT tetranucleotide repeats act to repress transcription. We also have shown that the microsatellite is multiallelic, when we screened a random healthy population. Further studies are required to determine whether microsatellite instability in the repressor predisposes susceptible individuals to CD30 overexpression.
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PMID:Involvement of Sp1 and microsatellite repressor sequences in the transcriptional control of the human CD30 gene. 1079 58