1,721,201 research outputs found
A very short segment of the murine Ret promoter contains elements sensitive to in vitro neural cell differentiation
No full textSex chromosome rearrangements leading to partial aneuploidies and mosaicisms: use of QF-PCR for detection and quantification of the involved cell lines
No full textIs There a Biological Basis for Treatment of Fibrodysplasia Ossificans Progressiva with Rosiglitazone? Potential Benefits and Undesired Effects
Get PDFThiazolidinediones (TZDs), among which Rosiglitazone, are known agonists of the peroxisome-proliferator-activated receptor γ (PPARγ) commonly used for treatment of hyperglycemia. A recently published article describing a case report on a patient affected by Fibrodysplasia Ossificans Progressiva (FOP) treated with Rosiglitazone has prompted interest for careful analysis of the rational basis of such treatment. This article reviews the effects of PPARγ agonists in relationship with various pathogenic steps that occur during the course of FOP by reviewing the particularly rich literature on the effects of Rosiglitazone, to underscore their relevance to FOP and to consider possible adverse effects
Genomic Context and Mechanisms of the <i>ACVR1</i> Mutation in Fibrodysplasia Ossificans Progressiva
No full textBasic research in Fibrodysplasia Ossificans Progressiva (FOP) was carried out in the various fields involved in the disease pathophysiology and was important for designing therapeutic approaches, some of which were already developed as ongoing or planned clinical trials. Genetic research was fundamental in identifying the FOP causative mutation, and the astonishing progress in technologies for genomic analysis, coupled to related computational methods, now make possible further research in this field. We present here a review of molecular and cellular factors which could explain why a single mutation, the R206H in the ACVR1 gene, is absolutely prevalent in FOP patients. We also address the mechanisms by which FOP expressivity could be modulated by cis-acting variants in the ACVR1 genomic region in human chromosome 2q. Finally, we also discuss the general issue of genetic modifiers in FOP
INTERACTION OF THE LMX1B AND PAX2 GENE PRODUCTS SUGGESTS POSSIBLE MOLECULAR BASIS OF DIFFERENTIAL PHENOTYPES IN NAIL-PATELLA SYNDROME
No full textReplication pattern of the pericentromeric region of chromosome 10q and expression of the ret proto-oncogene
No full textTMEM16A-TMEM16B chimaeras to investigate the structure-function relationship of calcium-activated chloride channels
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Intron 16 insertion of the angiotensin converting enzyme gene and transcriptional regulation
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