Mutations in the COL1A1 or COL1A2 genes, leading to fragile bones and frequent fractures.
Osteogenesis imperfecta
Refers to the process by which cells convert extracellular signals into intracellular responses, crucial for maintaining cellular functions and communication.
Signal transduction
This is the start codon
AUG (Methionine)
States that there is no difference between what is observed and what is expected by chance
Null hypothesis
This equation relates pH, pKa, and the ratio of the concentrations of a weak acid and its conjugate base
*100 points bonus if you can correctly write out the equation*
The Henderson-Hasselbalch
ππ» = ππΎπ + log([Aβ]/[HA]).
Mutations in the COL7A1 gene lead to a deficiency in type VII collagen, which anchors the epidermis to the dermis. Results in fragile skin that blisters easily with minimal trauma, causing significant morbidity.
Epidermolysis bullosa
Signal transduction pathways can be classified into different types based on the receptors involved, such as:
Triple play!!! (get all 3 right and earn $600)
G-protein coupled receptors (GPCRs), receptor tyrosine kinases (RTKs), and ion channel-linked receptors
Binds the tRNA carrying the growing peptide
P site
Occurs when there is no difference in reality, but our study finds a difference
Type I error
When [A-]=[HA], pH equals pKa, indicating a:
50% dissociation of the acid.
An autoimmune disorder also involving collagen IV, characterized by kidney damage and lung hemorrhage.
Goodpasture syndrome
The activated cAMP Response
Element binding protein (CREB) binds to *** in the nucleus
Regulatory element
Explains how the 5β base of the anticodon can pair with multiple bases in the codon, allowing for flexibility in codon recognition.
The Wobble hypothesis
A statistical method used to determine if there is a significant association between two categorical variables. It is applicable only to nominal or categorical outcome data, assessing independence between variables.
Chi-square test
A key physiological buffer, maintaining blood pH around 7.4
The bicarbonate buffer system
Leads to accelerated aging and severe health issues, with a life expectancy of around 13 years.
Hutchinson-Gilford Progeria Syndrome
A 35-year-old woman presents to the clinic with muscle weakness and fatigue. She
reports that these symptoms are more pronounced after physical activity and improve with
rest. Laboratory tests reveal a decrease in the concentration of acetylcholine receptors at the
neuromuscular junction. The type of receptor that is most likely affected in this patientβs
condition is:
Ion channel-linked receptors
This translation factor is necessary to guide the initiator tRNAi-Met to the P-site of the 40S ribosomal subunit
eIF-2
A researcher is performing a correlation analysis between oatmeal consumption and systolic blood pressure. She finds that the Pearson correlation coefficient between the two variables is r = 0.21. This type of relationship is a:
Weakly positive correlation
The most important buffer group of hemoglobin is:
Is associated with mutations in the ATPase 6 gene, leading to late-onset peripheral neuropathy and ataxia.
NARP (Neurogenic muscle weakness, Ataxia, and Retinitis Pigmentosa)
These toxins attach ADP-ribose residue to G alpha subunit of Gs and lock the stimulatory Gs into the active state (by blocking GTPase activity):
Cholera toxin
This toxin inactivates eEF-2 by ADP-ribosylation of
a modified histidine which inhibits translocation
Diphtheria Toxin
Increasing the *** raises the power of a study but also increases the risk of type I errors
significance level
The patient has respiratory acidosis due to chronic lung disease. CO2 retention is caused by his condition, CO2 is a substrate for this enzyme. Which has likely accumulated in his lungs
Carbonic anhydrase