Loss and gain
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Epigenetic defects (gain or loss of DNA methylation) of the human ICR1 11p15 domain result in two opposite foetal growth disorders (BWS and SRS) depending on which parental allele is affected. A few deletions within ICR1 have been reported in familial BWS cases with ICR1 gain of methylation, however the mechanism(s) of the DNA methylation defects at ICR1 remains largely unknown in most BWS and SRS patients.
83p runthenight07 01-03-2023 9 3 Download
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The studied object is the Kerr nonlinear optical systems and optical resonator tworing systems linear coupling with the presence of linear gain and nonlinear loss.
26p prisonbreak123 21-05-2021 12 4 Download
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Describe, identify and analyze the SDs used in Hồ Xuân Hương’s poems and their English translational equivalents; discuss the translation theory and analyze loss and gain in translation of SDs in English versions; give implications in teaching and learning translation of these devices.
26p bautroibinhyen24 20-04-2017 111 8 Download
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Thea-melanocyte-stimulating hormone (aMSH) receptor (MC1R) is amajordeterminant ofmammalianskinandhair pigmentation. Binding ofaMSHtoMC1Rinhuman mel-anocytes stimulates cell proliferation and synthesis of pho-toprotective eumelanin pigments. Certain MC1Ralleles have been associated with increased riskof melanoma. This can be theoretically considered on two grounds. First, gain-of-function mutations may stimulate proliferation, thus promoting dysplastic lesions.
9p tumor12 22-04-2013 34 4 Download
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The biochemical nature and the replication of infectious prions have been intensively studied in recent years. Much less is known about the cellular events underlying neuronal dysfunction and cell death. As the cellular func-tion of the normal cellular isoform of prion protein is not exactly known, the impact of gain of toxic function or loss of function, or a combination of both, in prion pathology is still controversial.
6p galaxyss3 21-03-2013 57 5 Download
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The TEC family is ancient and constitutes the second largest family of cyto-plasmic tyrosine kinases. In 1993, loss-of-function mutations in theBTK gene were reported as the cause of X-linked agammaglobulinemia. Of all the existing 90 tyrosine kinases in humans, Bruton’s tyrosine kinase (BTK) is the kinase for which most mutations have been identified.
10p cosis54 05-01-2013 39 4 Download
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Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Minireview cung cấp cho các bạn kiến thức về ngành y đề tài: The gain and loss of genes during 600 million years of vertebrate evolution...
12p thulanh20 10-11-2011 43 3 Download
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Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Minireview cung cấp cho các bạn kiến thức về ngành y đề tài: Intron gain and loss in segmentally duplicated genes in rice...
11p thulanh20 10-11-2011 44 4 Download