Podcast
Questions and Answers
What is the most common cause of x-linked SCID?
What is the most common cause of x-linked SCID?
- BTK
- Common-gamma chain (correct)
- PNP
- ZAP-70
What primarily distinguishes the HLA alleles HLA-A*02 01 and HLA-A 02 02?
What primarily distinguishes the HLA alleles HLA-A*02 01 and HLA-A 02 02?
- Synonymous polymorphism(s) of the non-coding regions
- Non-synonymous polymorphism(s) of the coding region (correct)
- Non-synonymous polymorphism(s) that determine the serotype
- Synonymous polymorphism(s) of the coding regions
What is one of the first indicators of cell injury?
What is one of the first indicators of cell injury?
- Na/K ATPase impairment
- Loss of DNA integrity
- Loss of membrane integrity (correct)
- Decrease protein synthesis
What is a main consequence of anaerobic glycolysis?
What is a main consequence of anaerobic glycolysis?
Which cell type is known for producing large amounts of reactive oxygen species (ROS)?
Which cell type is known for producing large amounts of reactive oxygen species (ROS)?
What is autophagy responsible for?
What is autophagy responsible for?
What consequence does the DNA Damage Response have on cells?
What consequence does the DNA Damage Response have on cells?
Which enzyme is not involved in phase I biotransformations?
Which enzyme is not involved in phase I biotransformations?
Which of the following types of proteins is characteristic of Bcl-2 family proteins?
Which of the following types of proteins is characteristic of Bcl-2 family proteins?
What components make up the apoptosome?
What components make up the apoptosome?
Which type of cancer was the leading cause of death in the early 1930s?
Which type of cancer was the leading cause of death in the early 1930s?
What best defines an oncogene?
What best defines an oncogene?
Which type of protein could be coded by a tumor-suppressor gene?
Which type of protein could be coded by a tumor-suppressor gene?
Which property of p53 allows it to inhibit cancer development?
Which property of p53 allows it to inhibit cancer development?
Which gene is NOT commonly mutated in colorectal cancer?
Which gene is NOT commonly mutated in colorectal cancer?
Which of the following is NOT a characteristic of cancer stem cells?
Which of the following is NOT a characteristic of cancer stem cells?
What feature distinguishes malignant tumors from benign tumors?
What feature distinguishes malignant tumors from benign tumors?
Which statement regarding exosomes is incorrect?
Which statement regarding exosomes is incorrect?
Which type of immune cell does NOT promote tumor progression?
Which type of immune cell does NOT promote tumor progression?
Which gene alteration is currently deemed not directly targetable by cancer therapy?
Which gene alteration is currently deemed not directly targetable by cancer therapy?
Which of the following cancer types has a very high number of non-synonymous mutations?
Which of the following cancer types has a very high number of non-synonymous mutations?
Which breast tumor subtype typically has the worst prognosis?
Which breast tumor subtype typically has the worst prognosis?
Flashcards
ADA Deficiency SCID
ADA Deficiency SCID
A recessive genetic disorder caused by a mutation in the gene encoding the enzyme adenosine deaminase (ADA), resulting in a deficiency of ADA activity. ADA is essential for the purine salvage pathway, which breaks down and recycles purines.
Non-synonymous Polymorphism
Non-synonymous Polymorphism
A type of polymorphism that changes the amino acid sequence of a protein. These changes can affect the protein's function, leading to different phenotypes.
Cellular Swelling
Cellular Swelling
One of the first signs of cell injury, characterized by an influx of water and ions into the cell, causing the cell to swell.
Lactate Accumulation
Lactate Accumulation
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Apoptosis
Apoptosis
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Autophagy
Autophagy
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DNA Damage Response
DNA Damage Response
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Steatosis
Steatosis
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Bcl-2 family proteins
Bcl-2 family proteins
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Oncogene
Oncogene
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Tumor suppressor gene
Tumor suppressor gene
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p53
p53
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Rb protein
Rb protein
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Cancer stem cell
Cancer stem cell
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Malignant tumor
Malignant tumor
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Exosomes
Exosomes
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M2 macrophages
M2 macrophages
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Targeted therapy
Targeted therapy
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CAR T cell therapy
CAR T cell therapy
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Checkpoint inhibitor therapy
Checkpoint inhibitor therapy
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RECIST criteria
RECIST criteria
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Antigen presenting cells (APCs)
Antigen presenting cells (APCs)
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Th17 cells
Th17 cells
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Autoimmune disease
Autoimmune disease
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Study Notes
X-Linked SCID
- Most common X-linked SCID is caused by a deficiency in the common-gamma chain.
HLA Alleles
- HLA-A02:01 and HLA-A02:02 differ due to non-synonymous polymorphisms in the coding region, which determine the serotype.
Cell Injury
- One of the earliest signs of cell injury is loss of membrane integrity.
Anaerobic Glycolysis
- The main consequence of anaerobic glycolysis is lactate accumulation.
Hypoxic Injury
- One of the first cellular signs of mild hypoxic injury is swelling.
Protease Activation
- Protease activation is triggered by increased cytosolic calcium.
ROS Production
- Phagocytes produce large amounts of reactive oxygen species (ROS).
Autophagy
- Autophagy degrades unwanted cellular components and is associated with aging.
DNA Damage Response
- The DNA damage response allows cells to repair DNA damage and induce apoptosis.
Biotransformations Enzymes
- UDP glucuronyl-transferase is not involved in phase I biotransformations.
Steatosis
- Steatosis involves intracellular accumulation of triglycerides.
Pneumoconiosis
- Pneumoconiosis involves lung accumulation of carbon particles, silica fibers, and asbestos fibers.
Hemosiderosis
- Hemosiderosis reflects iron accumulation.
Non-Alcoholic Fatty Liver Disease (NAFLD)
- NAFLD is associated with obesity.
Extrinsic Apoptosis Pathway
- Perforin does not trigger the extrinsic apoptosis pathway.
Bcl-2 Family Proteins
- Bcl-2 family proteins are primarily anti-apoptotic.
Apoptosome
- The apoptosome is composed of cytochrome c and Apaf-1.
Leading Cause of Death (1930s)
- Stomach cancer was the leading cause of death around 1930.
Oncogene Definition
- An oncogene is a dominantly expressed mutated gene giving a growth/survival advantage.
Tumor Suppressor Gene Products
- A tumor suppressor gene can code for a protein that controls progression through the cell cycle.
p53 Function
- P53 prevents the replication of cells with damaged DNA.
Colorectal Cancer Genes
- The gene SMAD4 is not commonly mutated in colorectal cancer.
Cancer Stem Cells
- Cancer stem cells are characterized by an inability to undergo symmetric division.
Malignant vs. Benign Tumors
- A malignant tumor undergoes metastasis.
Exosomes
- Exosomes are not the same size as microvesicles.
Tumor Progression Effectors
- M1 macrophages do not generally favor tumor progression.
Targetable Gene Alterations in Cancer Therapy
- KRAS mutations are not directly targetable by current cancer therapies.
Cancer Types with High Non-Synonymous Mutations
- Melanoma has a high number of non-synonymous mutations.
Breast Cancer Prognosis
- Basal-like breast cancer has the worst prognosis.
Chimeric Antigen Receptor (CAR) T Cells
- CAR T cells do not recognize native tumor antigens in their first generation.
Active Tumor Immunotherapy
- Anti-CTLA4 is generally more toxic than anti-PD1.
RECIST Criteria
- Absence of change is not a defined RECIST term.
HLA Class I & II Expression
- Dendritic cells express both Class I and Class II HLA molecules.
Th Cells
- TLRs on APCs influence Th cell priming.
Autoimmune Disease Pathogenesis
- Autoimmune diseases are not always driven by autoantibodies.
Systemic Autoimmune Diseases
- Systemic autoimmune diseases are not primarily due to type I hypersensitivity.
Live Attenuated Vaccines
- Oral administration is associated with polio vaccine.
HIV POL Gene Product
- HIV POL encodes for reverse transcriptase.
HLA-DRB1*03:01
- HLA-DRB1*03:01 is a genotypic class II designation.
HIV Long-Term Non-Progressors
- Long-term non-progressors avoid AIDS for 20 years without therapy.
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