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

Mixed connective tissue disease (MCTD) is a serologically distinct entity defined by a ribonuclease-sensitive extractable nuclear antigen. This unusual overlap syndrome has clinical features of scleroderma, systemic lupus erythematosus, polymyositis, and rheumatoid arthritis. In order to define the radiographic changes in MCTD, radiographs of the hands of 17 patients were studied, utilizing a fine-detail technique. Diffuse and periarticular osteopenia were found in 8 and 10 patients, respectively; soft-tissue swelling in 11; erosive changes in 9; joint-space narrowing in 7; tuft resorption and soft-tissue atrophy in 6; and subluxations in 2. In individual cases radiographs may appear normal or exhibit features of scleroderma, systemic lupus erythematosus or rheumatoid arthritis, thereby mirroring the clinical diversity of this entity.
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PMID:Mixed connective tissue disease: the spectrum of radiographic manifestations. 30 9

Antibodies to ribonucleoprotein (RNP) were detected by an immunofluorescence technique based on the sensitivity of speckled antinuclear antibodies to ribonuclease. These antibodies were found to identify a group of patients with a consistent set of clinical features, especially arthritis, swollen hands, Raynaud's phenomenon, and myositis. The presence of anti-RNP antibodies in sera from patients with polymyositis, systemic lupus erythematosus, and systemic sclerosis was also associated with these clinical features. Other studies of the clinical significance of these antibodies support the concept that they appear to identify a group of patients with a distinct clinical condition.
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PMID:Clinical significance of antibodies to ribonucleoprotein. 31 58

A new and distinct rheumatic disease with features of systemic lupus erythematosus (SLE), progressive systemic sclerosis and polymyositis is described. Typical symptons are Raynaud's syndrome, swollen hands and fingers, polyarthritis or polyarthralgia and myositis. Other symptoms are less common and include skin lesions, decreased pulmonary diffusing capacity, diminished esophageal motility, lymphadenopathy, and polyserositis. The diagnosis of mixed connective tissue disease (MCTD) can be established by demonstration of a high titer of antinuclear antibodies and antibodies against extractable nuclear antigen (anti-ENA). Both antibodies are directed against ribonuclease-sensitive antigen substrate, which permits differentiation of patients with MCTD from those with other rheumatic diseases. A relatively favourable prognosis and a good response to corticoid medication are further characteristics of this disease. Three personally observed patients with MCTD are described.
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PMID:[The Sharp syndrome ("mixed connective tissue disease")]. 108 43

Forty-four patients with antibodies to ribonuclease-sensitive extractable nuclear antigen (ENA), ribonuclease-resistant ENA, or both, are described. Most patients with antiribonucleoprotein (anti-RNP) antibodies have overlapping features of systemic lupus erythematosus (SLE), progressive systemic sclerosis (PSS), and polymyositis, and have a low incidence of nephritis. Most patients with antibody solely to ribonuclease-insensitive ENA have SLE; these patients with SLE are typical of the general SLE population, except that they demonstrate an increased incidence of Raynaud phenomenon. Furthermore, it is shown that antibody to ENA may occur in other rheumatic and nonrheumatic diseases, and that not all patients who have a clinical overlap of SLE and PSS that is suggestive of mixed connective tissue disease have anti-RNP antibody.
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PMID:Antibodies to components of extractable nuclear antigen. Clinical characteristics of patients. 108 22

Epidermal nuclear deposition of immunoglobulins (in vivo ANA) was observed in 45 out of 252 skin biopsies (17.8%). It occurred in 19% of cases with systemic lupus erythematosus, in 32% of the mixed connective tissue disease, in 22% of the scleroderma, in 20% of the cutaneous vasculitis, in 18% of the polymyositis, in 33% of the Sjogren's syndrome, but it was absent in cases with rheumatoid arthritis. The in vivo ANA showed a significant association with serum antibodies to an extractable nuclear antigen (ENA), with speckled pattern of immunofluorescent antinuclear antibody (FANA) and with antibody to a fraction of ENA sensitive to ribonuclease termed ribonucleoprotein (RNP). Indirect evidence was obtained suggesting that the epidermal nuclear deposition of immunoglobulins is a true in vivo phenomenon: some patients with serum antibodies to ENA do not display in vivo ANA and contrariwise, no difference was detected between diseased and normal skin for the occurrence of in vivo ANA and also no association was observed between this phenomenon with immune deposits at dermoepidermal junction or in subepidermal vessels.
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PMID:Epidermal nuclear immunoglobulin deposition in connective tissue diseases. 213 25

Autoantibodies to aminoacyl-transfer RNA (tRNA) synthetases are common in the human autoimmune diseases polymyositis and dermatomyositis. Sera of the PL-12 specificity contain separate antibodies reacting with alanyl-tRNA synthetase and alanine tRNA (tRNAAla). The antibodies to tRNA recognize at least six distinguishable human tRNAAla species grouped into two sequence families. The antibody-reactive determinants on the tRNA were identified through ribonuclease protection and oligonucleotide binding experiments. The antibody binding site is a seven- to nine-nucleotide sequence containing the anticodon loop and requires an intact anticodon. No requirement for anticodon stem structure or sequence is observed, although the 5' portion of the stem is protected from nuclease attack. Antibodies from several patients appear to share the same specificitym, indicating that the antibodies are induced by a unique sequence feature in the immunogen.
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PMID:Autoreactive epitope defined as the anticodon region of alanine transfer RNA. 244 87

Autoantibodies in the serum from a patient with connective tissue disease have been used to define a high molecule weight acidic nuclear protein antigen. The antigen tentatively termed Ku, after the first two letters of patient's name, has distinct physicochemical properties and immunological specificities that distinguish it from previously reported antigens. The Ku antigen has an apparent 300,000 mol wt as determined by gel filtration and sucrose density gradient ultracentrifugation techniques. The antigen is destroyed by trypsin, mild heating, and pH variations greater than 10 and less than 5. Treatment with ribonuclease or deoxyribonuclease did not affect the antigenic reactivity. The Ku antigen was demonstrated in the soluble extracts of human, calf, and rabbit, but not of rat tissues. Purified antibody localized the Ku antigen within the nuclei of human liver where a "reticular" pattern of immunofluorescence was seen. Of 330 patients with various connective tissue diseases, 9 had precipitating antibodies to the Ku antigen. Preliminary results of clinical analysis indicated that antibody to the Ku antigen might become a useful marker for a group of patients with clinical characteristics of both polymyositis and scleroderma with a good prognosis.
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PMID:Characterization of a high molecular weight acidic nuclear protein recognized by autoantibodies in sera from patients with polymyositis-scleroderma overlap. 727 62

Prior sequence analysis studies have suggested that bacterial ribonuclease (RNase) Ds comprise a complete domain that is found also in Homo sapiens polymyositis-scleroderma overlap syndrome 100 kDa autoantigen and Werner syndrome protein. This RNase D 3'-->5' exoribonuclease domain was predicted to have a structure and mechanism of action similar to the 3'-->5' exodeoxyibonuclease (proofreading) domain of DNA polymerases. Here, hidden Markov model (HMM) and phylogenetic studies have been used to identify and characterise other sequences that may possess this exonuclease domain. Results indicate that it is also present in the RNase T family; Borrelia burgdorferi P93 protein, an immunodominant antigen in Lyme disease; bacteriophage T4 dexA and Escherichia coli exonuclease I, processive 3'-->5' exodeoxyribonucleases that degrade single-stranded DNA; Bacillus subtilis dinG, a probable helicase involved in DNA repair and possibly replication, and peptide synthase 1; Saccharomyces cerevisiae Pab1p-dependent poly(A) nuclease PAN2 subunit, required for shortening mRNA poly(A) tails; Caenorhabditis elegans and Mus musculus CAF1, transcription factor CCR4-associated factor 1; Xenopus laevis XPMC2, prevention of mitotic catastrophe in fission yeast; Drosophila melanogaster egalitarian, oocyte specification and axis determination, and exuperantia, establishment of oocyte polarity; H.sapiens HEM45, expressed in tumour cell lines and uterus and regulated by oestrogen; and 31 open reading frames including one in Methanococcus jannaschii . Examination of a multiple sequence alignment and two three-dimensional structures of proofreading domains has allowed definition of the core sequence, structural and functional elements of this exonuclease domain.
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PMID:The proofreading domain of Escherichia coli DNA polymerase I and other DNA and/or RNA exonuclease domains. 939 23