Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.26.9 (ribonuclease)
 6,589 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Antinuclear and/or antinucleolar antibodies were demonstrated in the sera of 74 of 76 patients (97%) with progressive systemic sclerosis, using tissue culture cells (HEp-2) as substrate in the indirect immunofluorescent method. Six patterns of nuclear staining and three nucleolar patterns were recognized. The nuclear patterns were centromere, fine speckles, coarse speckles, diffusely grainy, homogeneous and nuclear dots. The nucleolar patterns were speckled, homogeneous and clumpy. The results of digestion studies with ribonuclease, deoxyribonuclease and trypsin suggested that the nuclear antigens are proteins, some of which may be associated with chromatin. The nucleolar antigens appeared to be nucleic acid in nature. Certain characteristic serologic and clinical features associated with staining patterns were observed. The diffusely grainy pattern was seen only in sera containing antibody to Scl-70 antigen. Centromere staining was confirmed to be highly selective for the CREST (Calcinosis, Raynaud's phenomenon, esophageal involvement, sclerodactyly and telangiectasis) variant of progressive systemic sclerosis with rheumatoid factor titres higher in these patients with anti-centromere antibodies.
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PMID:Association of antinuclear and antinucleolar antibodies in progressive systemic sclerosis. 704 33

Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by progressive ataxia, telangiectasia, sinopulmonary infections, hypersensitivity to ionizing radiation, and combined immunodeficiency. Recently, the AT gene (ATM) was cloned and shown to be mutated in AT patients. In this report, mutation analysis of ATM was performed in a 24-year-old AT patient without immunodeficiency. ATM amplified with reverse transcriptase-polymerase chain reaction (RT-PCR) was screened with a ribonuclease (RNase) cleavage assay and auto-sequenced. This patient, a compound heterozygote, showed two mutations in ATM: one missense mutation leading to a Leu2656Pro substitution and the other to the truncation at codon 3047 (Arg-->ter). The latter mutation is within the phosphatidylinositol 3-kinase (PI 3-kinase)-like domain and the former is outside but close to the domain. The particular phenotype in our patient, no immunodeficiency, suggests incomplete functional loss of ATM protein. The clinical spectrum of AT caused by ATM mutations may be broader than previously thought. Further analysis of patients with similar phenotypes will make the relation between ATM genotype and phenotype clear.
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PMID:Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain. 945 Aug 74