Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.27.1 (RNase)
 16,360 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A rare case of mixed connective tissue disease (MCTD) with subacute transverse myelopathy and various neurological signs was reported. The patient, a 53 year-old woman, was admitted to our hospital with subacute progressive muscle weakness of left lower limb and sensory disturbance of bilateral lower extremities. At the age of 40, she suffered from sensory disturbance of her face, which improved in about three years. She had a high fever, Raynaud phenomenon, dyshydrosis on right side of her face at the age of 43. On the admission, physical examination revealed swollen fingers and telangiectasia of her face. Neurologically, she had transverse myelopathy at the level of Th6, bilateral trigeminal neuropathy, tonic, pupils, polyneuropathy and dyshydrosis. Laboratory examination showed positive antinuclear antibody, a high titer of antibody to RNase-sensitive components of extractable nuclear antigen, positive antinuclear RNP antibody and negative anti-Sm antibody. Her myelopathy improved with corticosteroid therapy, and ESR and the level of immunoglobulin were normalized. But, other neurological signs showed no improvement.
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PMID:[A case of mixed connective tissue disease with subacute transverse myelopathy]. 180 65

Mutation of the transthyretin (TTR) plasma protein and gene in a Japanese patient with amyloid polyneuropathy was investigated by electrospray ionization mass spectrometry (ESI-MS) and nonisotopic RNase cleavage assay (NIRCA), respectively. ESI-MS analysis showed normal TTR peaks and additionally a variant TTR with 12-dalton-higher molecular weight than normal TTR. NIRCA suggested that the mutation existed near either the 5' or 3' end of exon 3. Direct DNA sequencing revealed both a normal ACC (threonine) and a variant ATC (isoleucine) at codon 49, which was located near the 5' end of exon 3. The molecular weight shift of this mutation was 12 D, consistent with the result of ESI-MS.
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PMID:Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotopic RNase cleavage assay. 1043 78

We detected a point mutation in the transthyretin (TTR) gene associated with familial amyloidotic polyneuropathy (FAP) in a 57-year old male presenting with sensorimotor polyneuropathy, severe autonomic dysfunction and cardiomyopathy using a non-isotopic RNase cleavage assay (NIRCA). NIRCA suggested that the mutation site was near either amino acid position 58 of mature TTR or the 3' end of exon 3. Direct DNA sequencing showed both a normal GAG (Glu) and a variant AAG (Lys) codon at amino acid position 89 of mature TTR, which has not been previously reported. The site of this mutation is near the 3' end of exon 3, consistent with the result of NIRCA. This mutation was also confirmed by polymerase chain reaction-induced mutation restriction analysis (PCR-IMRA).
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PMID:A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy. 1084 5