Xem 1-6 trên 6 kết quả Fragile x syndrome
  • Lack of functional Fragile X mental retardation protein (FMRP) is the pri-mary cause of the Fragile-mental retardation syndrome in humans. In most cases, the disease results from transcriptional silencing of fragile mental retardation gene 1, fmr1, which encodes FMRP. However, a single mis-sense mutation (I304N) in the second KH domain of FMRP gives rise to a particularly severe case of Fragile X syndrome.

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  • Di truyền gene trội liên kết nhiễm sắc thể X Ngoại trừ trường hợp hội chứng NST X dễ gãy (fragile X syndrome), các bệnh di truyền gene trội liên kết NST X có số lượng ít hơn và có ý nghĩa về mặt lâm sàng không bằng trường hợp di truyền gene lặn liên kết NST X. Phả hệ minh họa sự di truyền của một gene trội liên kết NST X, X1 là allele bình thường; X2 là allele bệnh. .

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  • Fragile X mental retardation protein (FMRP) is an RNA binding protein necessary for correct spatiotemporal control of neuronal gene expression in humans. Lack of functional FMRP causes fragile X mental retardation, which is the most common inherited neurodevelopmental disorder in humans.

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  • American men face a staggering array of health concerns. According to the Centers for Disease Control and Prevention, 70 percent of American men are overweight, a key predictor of future health problems. Almost 25 percent smoke, another key risk factor. One in five American men has heart disease, and 29 percent aged twenty and older suffer from hypertension. More than 11 percent of men face a limitation in their usual activities due to chronic health conditions. In addition, the medical concerns men face often differ from those of most concern to women.

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  • Huang, Yen and Lu (Chapter 18) review the role of SPECT in the diagnosis of idiopathic Parkinson’s disease and its differentiation from other conditions characterised by parkinsonisms such as dementia with Lewy Bodies (DLB) and vascular parkinsonism. Accurate diagnosis is clearly critical for treatment and prognosis, and the authors provide a very useful overview of recent developments in dopamine transporter imaging which have led to important advances in this area.

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  • A series of relatively short (GCC)ntriplet repeats (n¼3–30) located within regulatory regions of many mammalian genes may be considered as puta-tive cis-acting transcriptional elements (GCC-elements). Fragile X-mental retardation syndrome is caused by an expansion of (GCC)ntriplet repeats within the 5¢-untranslated region of the human fragile X-mental retarda-tion 1 (FMR1) gene.

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