A family is identified in which some individuals are heterozygous for an inactivating mutation of the calcium-sensing receptor, CaSR. These individuals are asymptomatic, but compared to their unaffected relatives, which of the following will be decreased? Group of answer choices Urinary calcium Plasma calcium Bone resorption Exocytotic activity in chief cells of the parathyroid glands
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- Normally, when blood glucose level increases (e.g. after a meal), the islet cells in the pancreas secrete insulin. When insulin molecules bind to insulin receptors on the surface of a muscle cell, the receptors become activated, initiating a signaling pathway which eventually results in the increase in the number of passive glucose transporter on the muscle cell surface thus increases the uptake of glucose into the cell and decrease blood glucose level. Indicate whether the following conditions/practice will likely lead to diabetes (mark Yes or No). [Select] degeneration of islet cells [Select] [Select] [Select] a mutation in the insulin receptor that increases its kinase activity ✓ exercise a mutation in the insulin receptor that prevents dimerizationAlthough numerous treatments are available for advanced hormone receptor- positive (HR+) and human epidermal growth factor receptor 2 negative (HER2-) breast cancers, they are rarely curable. Drugs such as palbociclib that inhibit cyclin-dependent kinase 4 and 6 (CDK4/6) are rapidly altering this therapeutic environment. Discuss the function of CDK4 and CDK6 in promoting cell growth as well as the overall effects of their inhibition by palbociclib on the progression of the cell cycle.What is the purpose of having a sex hormone binding protein within the blood stream? What is the purpose of having a specific receptor for estrogen within the cell? The estrogen receptor binding domain has many known mutations that effect estrogen binding and result in breast cancer. One particular mutation found at aspartic acid is changed to glycine in cancer patients. Draw a potential interaction with the side chain of this aspartic acid with estrogen (name and label it) and how a mutation to glycine could affect this ability to efficiently bind to estrogen. 6.
- Which of these describes the symptoms of the disease(s) caused by mutations in KMT2D ? Select all that apply. Papules Joint hypermobility Sleep disturbance Progeria Dental abnormalities ScoliosisBecause of oxygen and nutrient requirements, cells in a tissue must reside within 100 μm of a blood vessel. Based on this information, explain why many malignant tumors often possess gain-of-function mutations in one of the following genes: βFGF, TGF-α, and VEGF.Mutations to SRP72 (the RNA component of the signal recognition particle) are known to cause some forms of familial bone marrow failure. Which of the following protein(s) is/are potentially affected by such deleterious mutations? Choose all that apply Epidermal growth factor receptor (EGFR) Cytochrome c Insulin (a secreted protein) uS7 (a small ribosamal subunit protein from all dornains of life) DO00
- Neurofibromatosis type 1 (NF1) is an inherited is an inheritent dominant disorder. The phenotype usually involves the production of many skin neurofibromas. Answer the following questions about the disorder: a) Are the NF1 neurofibromatosis-causing mutations that are inherited by affected children from affected parents likely to be loss-of-function or gain-of-function mutations? b) Neurofibromin, the protein product of NF1, is associated with the Ras protein. Ras is involved in the transduction of extracellular signals from growth factors. The active form of Ras is complexed with GTP; the inactive form is complexed with GDP. Would the wild-type neurofibromin protein favor the formation of Ras-GTP or Ras-GDP? c) Which of the following events in a normal cell from an individual inheriting a neurofibromatosis-causing allele could cause the descendents of that cell to turn into a neurofibroma? i. A second point mutation in…Munchkin cats have a mutation in the fibroblast growth factor receptor (FGFR3) gene, the same gene mutated in humans suffering from achondroplasia. In cats and humans this causes dwarfism because FGFR3 has a negative effect on bone growth. In achondroplasia, the mutated form of the FGFR3 receptor is constitutively active and this leads to severely shortened bones. A) Draw a simple diagram of the FGFR effect on bone growth in "normal" cats. B) Crossing two munchkin cats always yields 2 munchkin kittens for every 1 normal kitten. True breeding munchkin cats do not exist. Explain this result by showing the genotypes of all parents and offspring. Define the alleles (indicate which is dominant and which is recessive).Munchkin cats have a mutation in the fibroblast growth factor receptor (FGFR3) gene, the same gene mutated in humans suffering from achondroplasia. In cats and humans this causes dwarfism because FGFR3 has a negative effect on bone growth. In achondroplasia, the mutated form of the FGFR3 receptor is constitutively active and this leads to severely shortened bones. A) Draw a simple diagram of the FGFR effect on bone growth in "normal" cats. B) Crossing two munchkin cats always yields 2 munchkin kittens for every 1 normal kitten. True breeding munchkin cats do not exist. Explain this result by showing the genotypes of all parents and offspring. Remember to define your alleles and indicate which is dominant and which is recessive.
- Below are two cell signalling pathways that work together to regulate cell growth, proliferation and ultimately the size of organs in O.Extremus. In other closely related organisms, dysfunction of these pathways has been associated with tumor growth. mTOR pathway: 1. Growth factors bind and stimulate the receptors. 2. Receptors can activate the phosphatidylinositol 3 kinase (PI3K) – Akt signaling pathway. 3. The activated Akt, a serine threonine kinase, inhibits theTSC1–TSC2 complex, allowing Rheb to activate mTORC1. 4. In parallel, amino acids activate the mTORC1 pathway through a mechanism requiring the Rag– Ragulator complex. Hippo pathway: 1. The binding of the ligand activates the receptors which activate Mst and Lats. 2. YAP activity is modulated by phosphorylation of Mst and Lats. YAP upregulates miR-29, which in turn downregulates PTEN, an inhibitor of PI(3)K and Akt. So, the two pathways crosstalk and coordinate cell number and growth. a) What purpose does this forward…Hereditary retinoblastoma generally affects children in both eyes, while spontaneous retinoblastoma usually occurs during adulthood only in one eye. Explain the genetic basis for the epidemiological distinction between these two forms of retinoblastoma. Explain the apparent paradox: loss-of-function mutations in tumor-suppressor genes act recessively, yet hereditary retinoblastoma is inherited as an autosomal dominant.Patient who are suffering from thyrotoxicosis symptoms of vegeto- asthenic syndrome was revealed. The histological appearance of a thyroid gland being stimulated by thyroid-stimulating hormone (TSH) would show which of the following? Columnar-shaped follicular cells Decreased numbers of follicular cells An abundance of colloid in the lumen of the follicle Increased numbers of parafollicular cells O Decreased numbers of parafollicular capillaries