Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The tight-skin (Tsk) mutation has been mapped to mouse chromosome 2 between the visible markers pallid (pa) and agouti (a). The phenotype observed in Tsk heterozygotes includes a thickened dermis that is tightly adherent to underlying tissues, increased production of collagen and other matrix proteins in the dermis, an enlarged heart, overgrowth of bones, scoliosis, and emphysematous lungs. Although it is known that the mutation is semidominant and that homozygous Tsk/Tsk mice die at 7 or 8 days in utero, the actual defect leading to the distinct heterozygous and homozygous phenotypes is unknown. To facilitate the positional cloning of Tsk, an interspecific backcross between C57BL/6J Tsk/+ and Mus spretus has been conducted. Our data link Tsk to cloned genetic markers and indicate the order pa-B2m-Tsk-Fbn-1-II-1a-a.
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PMID:Tight-skin (Tsk) maps on mouse chromosome 2 within the region of linkage homology with human chromosome 15. 795 75

Prospects for definitive therapeutic intervention for Rett syndrome (RS) have been elevated by the discovery of mutations in the methyl-CpG-binding protein 2 gene (MECP2) in more than 80% of females meeting clinical criteria for this disorder. As such, a review of previous clinical trials, descriptions of the status of clinical management for the prominent medical problems of RS, and a preview of an ongoing clinical trial conducted jointly at the Baylor College of Medicine and the University of Alabama at Birmingham are presented. The conduct of controlled clinical trials requires adherence to diagnostic criteria for RS; stratification by age, stage, and presence of MECP2 mutations; and use of clearly defined outcome measures. Previous clinical trials in RS have been conducted with L-carnitine, the ketogenic diet, and the opiate antagonist, naltrexone. The L-carnitine and naltrexone trials were double blind, placebo-controlled and us ed the motor behavioral analysis described in this review. All failed to provide evidence of dramatic improvements in the clinical features of RS. Specific recommendations are presented for clinical management of growth failure, breathing irregularities, seizures, ambulation, scoliosis, gastrointestinal function, self abuse, and habilitation/education although systematic evaluations of each in the context of RS have not been conducted. The only ongoing trial involves dietary supplementation with folate and betaine and is based on the finding that gene expression of some alleles of the agouti gene could be altered by dietary methyl supplementation. The availability of animal models expressing mutations in MECP2 should enhance the evaluation of innovative therapies for RS.
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PMID:Clinical trials and treatment prospects. 1211 36