Muckle–Wells syndrome is an autosomal dominantly inherited disease due to mutations in NLRP3. Individuals with this disease suffer from episodes of fever, as well as urticarial rash, joint pains, and conjunctivitis. What is the explanation for the beneficial effects of anakinra (IL-1 receptor antagonist) treatment in these patients?

Identify two genetic mechanisms whereby proto-oncogenes can become overexpressed. Select the two mechanisms. Identify two genetic mechanisms whereby proto-oncogenes can become overexpressed.Select the two mechanisms. 1) alterations in chromatin structure 2) a gain-of-function alteration 3)modification of proto-oncogenes products 4)mutations that result in an abnormal protein product 5)mutations within gene-regulatory regions

Aberrant signaling through the Ras-BRaf-MAPK signal transduction pathway drives many cancers. This makes the pathway an attractive drug target, and many small molecules have been developed that target either Ras, BRaf or MAPK. In malignant melanoma, one mutation in particular, where valine 600 of Braf is mutated to a glutamic acid (V600E), is found in the majority of cases. This mutation makes BRaf activation independent of upstream Ras activity. Would a small molecule that targets Ras be effective in a melanoma case driven by Braf V600E? Explain your answer.

Why is phospholipase c is the target on this western blot explain in detail

can you please help me out with this ? Mutations in the IL2RG gene cause approximately 30 percent of severe combined immunodeficiency disorder (SCID) cases in humans. These mutations result in alterations to a protein component of cytokine receptors that are essential for proper development of the immune system. The IL2RG gene is composed of eight exons and contains upstream and downstream sequences that are necessary for proper transcription and translation. Below are some of the mutations observed. For each, explain its likely influence on the IL2RG gene product (assume its length to be 375 amino acids).   Nonsense mutation in a coding region   Insertion in Exon 1, causing frameshift   Insertion in Exon 7, causing frameshift   Missense mutation   Deletion in Exon 2, causing frameshift   Deletion in Exon 2, in frame   (g) Large deletion covering Exons 2 and 3

How do loss of function mutations associated with Artemis (protein) cause their resulting phenotypes? Explain how genetically modified HSCs can treat these phenotypes.

Provide a short answer for each of the questions below. For individuals homozygous for the Duffy gene mutation, which increases resistance to malaria, answer the following questions: 1)What impact do you expect the GATA → GACA mutation will have on the level of Duffy protein expression in red blood cells? 2)What impact do you expect the GATA → GACA mutation will have on the level of Duffy protein expression in endothelial and Purkinje (brain) cells? 3)Explain how this mutation leads to the level of Duffy expression you expect in the different cell types.

What is a signal-transduction pathway? Why are mutations in components of signal-transduction pathways often associated with cancer?

ATR is a protein kinase that is activated by double stranded DNA breaks. a) True Ob) False

Why do Tbx5 mutations affect limbs and heart but no other tissues?