Sentences with phrase «effect of mutations related»
Dlx5 homedomain / DNA complex; structure, binding and effect of mutations related to split - hand and foot malformation syndrome.
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His lab is now investigating what happens in the earliest stages of the development of mice with the autism - related Shank3 mutation, and whether any of those effects can be reversed either during development or later in life.
Recently, his lab used induced pluripotent stem (iPS) cells — adult cells made to act like embryonic stem cells — made from skin cells of patients carrying apoE4, or other mutations related to Alzheimer's, to study their effects on the development, survival, and degeneration of human neurons.
The effects of disrupting the «silent» genes revealed in these studies may be masked by the activity of related genes, or because their mutations produce defects that are not readily apparent in casual observation under normal laboratory conditions.
To study the effects of LRO - related gene mutations, Dr. Huizing is performing fluorescent protein expression studies using patients» cells in order to examine defective intracellular trafficking.
However, any data obtained from iPS is a combination of effects of the disease's genetic mutation and the recombination - related genetic modifications (often random).
Using young and aged transgenic mice and human - derived induced pluripotent stem cells, she will examine the effect of Alzheimer's - related mutations on translation and protein expression.
This is in accordance with previous reports that decitabine and 5 - azacytidine produce a marked synergistic effect in combination with suberoylanilide hydroxamic acid and romidepsin in T - lymphoma cell lines by modulating cell cycle arrest and apoptosis.26, 27 As a mechanism of action, KMT2D mutations of B - lymphoma cells promote malignant outgrowth by perturbing methylation of H3K4 that affect the JAK - STAT, Toll - like receptor, or B - cell receptor pathway.28, 29 Here our study indicated that dual treatment with chidamide and decitabine enhanced the interaction of KMT2D with the transcription factor PU.1, thereby inactivating the H3K4me - associated signaling pathway MAPK, which is constitutively activated in T - cell lymphoma.13, 30,31 The transcription factor PU.1 is involved in the development of all hematopoietic lineages32 and regulates lymphoid cell growth and transformation.33 Aberrant PU.1 expression promotes acute myeloid leukemia and is related to the pathogenesis of multiple myeloma via the MAPK pathway.34, 35 On the other hand, PU.1 is also shown to interact with chromatin remodeler and DNA methyltransferease to control hematopoiesis and suppress leukemia.36 Our data thus suggested that the combined action of chidamide and decitabine may interfere with the differentiation and / or viability of PTCL - NOS through a PU.1 - dependent gene expression program.