ch of the following statements are false? Drugs such as Ataluren should be effective in treating all types of Pax6 mutations Gene therapy stategies aimed at over production of Pax6 should be an effective strategy for Aniridia treatment The target protector strategy developed by the Howard lab for Aniridia treatment is aimed at increasing the expression of the mutant allele of Pax6 all of the above none of the above
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- Some people have a genetic predisposition for developing priondiseases. Examples are described in Table 25.6. In the case ofGerstmann-Straüssler-Scheinker disease, the age of onset istypically 30–50 years, and the duration of the disease (whichleads to death) is about 5 years. Suggest a possible explanationwhy someone can live for a relatively long time withoutsymptoms and then succumb to the disease in a relativelyshort time.The mouse thymus normally contains about 1–2 ´ 108 thymocytes, the vast majority of which are CD4+CD8+ (double-positive) cells. When thymocytes from mice with a gene deficiency in the TCRa locus are compared with those from TCRb-deficient mice, a striking difference between the two different knockout lines is observed, as shown in the figure below in a simplified version of flow cytometry data. The numbers of thymocytes in each thymus is indicated below the plots. What is the explanation for the difference in thymocyte subsets and cell numbers observed when comparing TCRa-/- to TCRb-/- thymocytes? Which region of the thymus organ would show a dearth of developing thymocytes in the TCRa-/- thymus? Which region in the TCRb-/- thymus?. Mutations in an autosomal gene in humans cause aform of hemophilia called von Willebrand disease(vWD). This gene specifies a blood plasma proteincleverly called von Willebrand factor (vWF). vWFstabilizes factor VIII, a blood plasma protein specified by the wild-type hemophilia A gene. Factor VIIIis needed to form blood clots. Thus, factor VIII is rapidly destroyed in the absence of vWF.Which of the following might successfully be employed in the treatment of bleeding episodes in hemophiliac patients? Would the treatments workimmediately or only after some delay needed forprotein synthesis? Would the treatments have only ashort-term or a prolonged effect? Assume that allmutations are null (that is, the mutations result in thecomplete absence of the protein encoded by the gene)and that the plasma is cell-free.a. transfusion of plasma from normal blood into avWD patientb. transfusion of plasma from a vWD patient into adifferent vWD patientc. transfusion of plasma from a hemophilia A…
- What is the role of genomics in generating anti-SEMA3A monoclonal antibodies as a potential therapeutic antibody against GBM progression? Explain in detailed manner.Skin cancer carries a lifetime risk nearly equal to that of allother cancers combined. Following is a graph [modified fromK. H. Kraemer (1997). Proc. Natl. Acad. Sci. (USA) 94:11–14]depicting the age of onset of skin cancers in patients with orwithout XP, where the cumulative percentage of skin cancer is plotted against age. The non-XP curve is based on 29,757 cancerssurveyed by the National Cancer Institute, and the curverepresenting those with XP is based on 63 skin cancers from theXeroderma Pigmentosum Registry.It has been found that blood types (ABO) affect the COVID-19 infection rate and the disease severity. Blood type A individuals are more likely to be infected and more likely to suffer from severe disease. Blood type O individuals seem to be less affected. Outline possible reasons for this. Note: So far, no studies have been published to conclusively answer this question, so there are no "wrong" answers here. The point is to come up with some ideas/hypotheses based on your knowledge about the molecular basis of blood types and what the consequences might be in relation to viral infections.
- The diosgenin drug (DSG) has been tested on human cholangiocarcinoma cells (bile duct cancer cells). To this aim, the human cholangiocarcinoma cell lines HuCCT1, QBC939, SK-ChA-1, HuH28, RBE, and Mz-ChA-1 have been subjected to different conditions of treatment with DSG, then assessed for their viability using a MTS assay, and their cell cycle progression using flow cytometry (FCM).Note: The MTS assay is based on the reduction of the MTS tetrazolium compound by viable cells to generate a colored formazan dye that is soluble in cell culture media. This conversion is thoughtto be carried out by NAD(P)H-dependent dehydrogenase enzymes in metabolically active cells.The formazan dye is quantified by measuring its absorbance at 490-500 nm. Question : To which kind of biological molecule does this DSG drug resemble? To which kind of properties do you expect for DSG?Alpha-1 antitrypsin has codominant inheritance. M genes express normal levels. S and Z genes have low expression. Which of the following is most likely to develop emphyema? A person with: 1) two M genes who does smoke 2) two S genes who does smoke 3) one M and one S gene who does not smoke 4) one M gene and one S gene who does smoke 5) two M genes who does not smoke 6) two S genes who does not smokeDiscuss the advantages and disadvantages of general chemotherapy like Etoposide compared to specific inhibition of EGFR.
- Our understanding of the molecular biology of cancer formation has been greatly enhanced by studying oncogenic viruses. Answer the following questions regarding oncogenic retroviruses? Explain how a gain of function mutation in the Ras protein caused by a retrovirus might lead to cancer formation.A 20-year-old primigravida gives birth to an infant. The infant had immediate respiratory distress after birth. Newborn examination shows micromelic limb shortening, frontal bossing and a small chest cavity. A radiograph shows normal bone density without fractures. Which of the following gene mutations is most likely seen in this patient? Answers A-E A CA2 B CLCN7 C COL1A1 D FGFR3 E SQSTM1Suppose you discover a drug that has potential antiviral effect against SARS-CoV2 so you tested its effect on the expression of selected genes that are upregulated during COVID19 infection. IFH1 and ISG15 activates the innate immune response in the presence of viral RNA while IFNy activates both innate and adaptive immune responses. MX1 is a proviral factor that enhances viral replication in the cell. To determine how the drug affect these genes, you performed microarray using treated and untreated cells that were infected with SARS-CoV2. You labelled cDNAs from treated cells with green fluorescence while cDNAs from untreated cells were labelled red. You obtained the following results in the microarray chip for each gene: IF1H1 IFNY ISG15 MX1 Based on the results above, which of the following genes is upregulated by the antiviral drug? a. IF1H1 O b. IFNY C. MX1 d. ISG15