Variable pentrance of a familial progressive necrotising encephalopathy due to a novel tRNA(super lle) homoplasmic mutation in the mitochondrial genome
Article Abstract:
Results of a study conducted on a normal mother and two daughters with severe encephalopathy reported that mitochondrial disorders were due to homoplasmic mutations in tRNA genes characterized by extremely variable penetrance. This phenomenon has important consequences in the nosological characterisation, clinical management, and genetic counselling of mitochondrial disorders.
Publication Name: Journal of Medical Genetics
Subject: Health
ISSN: 0022-2593
Year: 2004
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Functional dimorphism of two hAgRP promoter SNPs in linkage disequilibrium
Article Abstract:
The agouti related protein (AgRP) exerts its anabolic effects on food intake by antagonizing the alpha-melanocyte stimulating hormone at its receptors that are melanocortin receptors 3 and 4 (MC3R and MC4R). The functional impact of SNP was assessed by examining the promoter activity of the region(-3165/-2962) containing the SNP.
Publication Name: Journal of Medical Genetics
Subject: Health
ISSN: 0022-2593
Year: 2004
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Glutathione S-transferase M1, T1 status and the risk of head and neck cancer: a meta-analysis
Article Abstract:
A report stated that 2% of deaths in the Western world was from cancer, as there were new cases of head and neck cancer being registered worldwide. The important risk factors of developing head and neck cancer reported were due to GSTM1 and GSTT1 deficiency, however the results are inconsistent.
Publication Name: Journal of Medical Genetics
Subject: Health
ISSN: 0022-2593
Year: 2004
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