Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.3.1.108 (TAT)
 2,389 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

One hundred and eighty-one families with multiple endocrine neoplasia type 2A (MEN-2A) or familial medullary thyroid carcinoma (FMTC) have been investigated for mutations in the ret protooncogene in Germany. In 8 families with FMTC or MEN-2A, no mutation could be detected in the cysteine-rich domain encoded in exons 10 and 11 of the ret protooncogene. DNA sequencing of additional exons (no. 13-15) revealed rare noncysteine mutations in 3 families (codons 631, 768, and 844). In contrast to these rare events, heterozygous missense mutations in exon 13, codons 790 and 791, were found in 5 families (4 with MTC only; 1 family with MTC and pheochromocytoma) and 11 patients with apparently sporadic tumors. Two different mutations in codon 790 (TTG-->TTT, TTG-->TTC; Leu790Phe) and one mutation in codon 791 (TAT-->TTT; Tyr791Phe) created a phenylalanine residue. We conclude that codons 790 and 791 of the ret protooncogene represent a new hot spot for FMTC/MEN-2A causing mutations. With the discovery of these considerably common mutations in codons 790 and 791 and the identification of some rare mutations, 100% of the German FMTC/MEN-2A families could be characterized by a mutation in the ret protooncogene.
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PMID:A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. 950 24

Although central to any exhaustive theory of human subjectivity, the relationship between dream and waking consciousness remains uncertain. Some findings suggest that dream consciousness can be influenced by severe disorders of thought content. The suppression of unwanted thoughts has been shown to influence dream content in healthy individuals. In order to better define this phenomenon, we evaluated the persistence of obsessive/compulsive themes across the dream and waking cognition of OCD patients and in a control group of healthy subjects. Participants were administered a shortened version of the Thematic Apperception Test to produce a waking fantasy narration, and were trained to keep a dream diary. Dream and waking narrative contents were analyzed in order to recognize obsessive/compulsive themes, and to calculate Mean Dream Obsession/Compulsion (MDO, MDC) and Mean TAT Obsession/Compulsion (MTO, MTC) parameters. No differences were found between the two populations in terms of MDO, MDC, MTO, nor MTC. Density of obsessive and compulsive themes were significantly higher in dream reports than in waking narratives for both groups. No correlation was observed between MDO/MDC scores and Y-BOCS obsession/compulsion scores in the OCD group. These findings strengthen the discontinuity hypothesis, suggesting that ruminative aspects of cognition are somehow interrupted during dream activity.
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PMID:Dream content and intrusive thoughts in Obsessive-Compulsive Disorder. 2752 32