Term
| the difference between sequence, syndrome and association |
|
Definition
sequenece- series of abnormalities from 1 event
syndrome- pattern of anomalies that are related
association- a pattern of anomolies that are more likely to occur together than chance would predict |
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|
Term
| Difference between deformation, disruption, dysplasia, and malformation |
|
Definition
deformation- normal developement interupted mechanically
disruption- interuption of normal developement, highly assymetric
dysplasia- tissue specific interupted development
malformation- just an abnormal developemental process, mutant genes,alcohol |
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Term
| what is the difference between a disruption and a malformation. |
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Definition
| Malformations follow embryological lines, while disruptions do not! |
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Term
| what would be an example of etiology of symptoms |
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Definition
| A child with mental retardation may not have PKU, but may have received damage from the fetal environment of his PKU mother. |
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Term
| What are two way that decreased caloric intake decreases the aging process? |
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Definition
| This decreases the amount of insulin and IGF growth factor. This reduces the amount of TOR in the body whcih decreases cell growth, as well as decreases insulin induced growth. |
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Term
| What cell is older, a cell that has undergone 100 divisions and is 10 days old, or a cell that has undergone 20 divisions and is 20 days old? |
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Definition
| the one that has divided more since a cells age is determined by the number of times it has divided. |
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Term
| When would you use the liquid junction potential equation? |
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Definition
| when you have two different ions with different rates of diffusion |
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|
Term
| When would you use the goldman equation? |
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Definition
| when you want to calculate the potential difference of a membrane and there is more than one ion. |
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|
Term
| when would the nernst equation be used? |
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Definition
| when you want to calculate the membrane potential of one ion base on its chemical energy. |
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Term
| which type of bone formation requires lots of vasculature and is the direct differentiation of mesenchymal cells to bone? |
|
Definition
| intramembranous bone formation |
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Term
| what type of bone formation involves the differentiation of mesenchymal cells to cartilage which eventually becomes bone |
|
Definition
| Endochondral bone formation |
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Term
| Achondroplasia involves the FGF receptors. what does this receptor do? |
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Definition
| It becomes hyperactive and stops the proliferation of chondrocytes. |
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Term
| Parathyroid hormone releasing peptide is involved in the in Jansen and Blomstrand chondroplasias. What is the mechanism of these actions |
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Definition
In Jansens, the PTHrP is upregualted which stops chodrocytes from undergoing hyperotrophy and bone is not made
In blomstrand PTHrP is under expressed, bones solidify quickly |
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Term
| what two proteins are used to seal tight epithelium? |
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Definition
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Term
| what process drives the absorption of Na+ in epithelium |
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Definition
| NaK pumps which are ALWAYS on the basolateral side, pump sodium out of the cell into the matrix side. This draws in Na+ from the lumen. |
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Term
| what is the driving force for K+ secretion in transcellular transport? |
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Definition
| the NaK pump, pumps K+ in from the basolateral side.This is secreted from the apical side due to a higher presence of K+channels |
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Term
| What is the driving force for transepithelial glucose transport and what is it called? |
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Definition
| it is the NaK ATPase pump on the basolateral side makes a sodium deficiency. Glucose comes into the cell apically through symport of Na+ |
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|
Term
| What transporter is important for the secretion of Cl- |
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Definition
| the NaKCl2 transporter in the basolateral side of the membrane. |
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|
Term
| how do you determine transepithelial voltage? |
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Definition
| it is the difference in voltage of the apical and basolateral sides of the membrane. |
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|
Term
| water transport across epithelium involves the use of which particular pump? |
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Definition
|
|
Term
| how would one expect the actions of Antidiuretic hormone and aldosterone to differ with respect upregulation of transporters? |
|
Definition
ADH causes vesicular trasport of pumps to the membrane.
Aldosterone causes an upregulation in the transcription of sodium channels |
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Term
| The IRS-1 is a protein which can become phosphorylated and bound by another protein to cause cellular action. What do these action include? |
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Definition
1. it can act as GTP exchanger for the small GTP binding protein RAS which eventually upregulates gene expression.
2. it can bind the PI3K protein which through a series of pathways allows glyogwn synthase to continue to function and deliver Glut 4 transporters to the membrane.
-this mean the cell is going to grow |
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Term
| Guanalyl cyclase is unique in that it contains what? It is also unique because? |
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Definition
| a heme group. there is also 2 forms, a membrane bound, and a cytosoliv |
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Term
| What proteins found in the cell are mediated through GDP/GTP exchange and isoprenylated? |
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Definition
|
|
Term
| activation of G-protein couple receptor eventually activate adenyl cyclase which then makes ________ which activates________ |
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Definition
|
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Term
| GTPase Activating Proteins or GAPs are considered important in the regulaton of what types of receptor/proteins? |
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Definition
| The are important in deactivating G- protein couple receptors and small GTP binding proteins. Both contain GTPase activity. |
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Term
| PTPs are unique among the regulatory pathway of the JAK/STAT pathway in that they? |
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Definition
these are the only ones which act in BOTH the cytosol and the nucleus.
SOCs act only in the cytosol
PIAs act only in the nucleus |
|
|
Term
| what types of JAKs would to expect to find in the JAK/STAT pathway of of alpha and beta interferons? what about Gamma interferons? |
|
Definition
alpha and beta uses JAK 1 and TYK2
Gamma uses JAK 1 and 2 |
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Term
| before the development of apprpirate analytic methods, STAT dimers were know to be made of P91, P84, P113 and another nucleat facto called P48. Whe combined they were refered to as? |
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Definition
|
|
Term
| Once a STAT dimer enters the nucleus, what is an important factor which leads to and increased binding affinity? |
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Definition
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Term
| A person with Severe combined immune deficiency would see a dysregulation in? |
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Definition
|
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Term
| JAK2 has a JH2 domain and a JH1 domain. What are the functions of eac of these domains. What can happen in mutation? |
|
Definition
JH2 is the domain which regulates the autophosphorylation activity of JH1.
In 80% of people with myeloproliferative disorder, JH2 is mutated causing autphosphorylation. |
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Term
| which muscle is the only type that can undergo hyperplasia. How do skeletal muscle and cardiac muscle regenerate? |
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Definition
| Smooth muscle. Skeletal muscle can only regenerate by satellite cells. Cardiac muscle has no regenerative capability beyond childhood. |
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Term
| in regards to muscular contraction. What is the difference between the function of calcium in smooth, striated, and cadiac muscle |
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Definition
Troponin binds calcium in skeletal muscle, allowing myosin to bind actin.
in smooth, Ca2+ binds calmodulin which activates MLCK, phosphorylates myosin which allows it to bind actin. SMOOTH MUSCLE DOES NOT HAVE TROPONIN! |
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Term
| Type 1 skeletal muscle fibers are considered ________ twich and contain the__________ amount of myoglobin of all the fibers. Their primary energy source is via____________. |
|
Definition
| Slow, highest, fatty acid oxidation |
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|
Term
| what are the two types of viruses that you would expect to see in a monogenic disorder? |
|
Definition
| Retroviruses, AAV parvoviruses |
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|
Term
| MUscarinic receptors are part of the_______ nervous system and use _________. |
|
Definition
| parasympathetic nervous system, G-protein coupled receptors |
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|
Term
| Adrenergic receptors include? |
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Definition
|
|
Term
| Alpha 1 receptors are responsible for? |
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Definition
| binding epinephrine causes vasocnostriction of smooth muscle. reduces GI and bladder motility |
|
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Term
|
Definition
| very similar to alpha 1 except they help regulate the nuerotransmitter release. THis allows for the sympathetic nervous system to over take the parasympathetic when needed |
|
|
Term
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Definition
| causes dilation of the vascular smooth muscle of the bronchioles and skeletal muscle allowing for more blood flow. this is flight or flight. |
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Term
| what is the name for condensed chromatic and where would you find it? |
|
Definition
| heterochromatin. During mitosis |
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Term
| Elastin is mostly made of lysine and proline. This crosslinking component of this protein is the what? |
|
Definition
|
|
Term
| Folding of globular proteins is usually ________ driven. While the folding of Fibrous is usually ________ driven. |
|
Definition
|
|
Term
| the enzyme catalase is key to what organelle? |
|
Definition
|
|
Term
| Beta 1 receptors can be found where? |
|
Definition
| in te heart, they Increase BP |
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|
Term
| How can a GPCR self regulate it self? |
|
Definition
| the alpha subunit has a GTPase activity that turns GTP-->GDP |
|
|
Term
| How can a GPCR self regulate it self? |
|
Definition
| the alpha subunit has a GTPase activity that turns GTP-->GDP |
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|
Term
| While GPCR can lead to activation of Adenyl Cyclase, they can also activate another pathway. What is this? |
|
Definition
| The phospholipase C. THis takes PIP2--> IP3 and DAG. these cause smooth muscle contraction |
|
|
Term
| Universal blood donor? Acceptor? |
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Definition
|
|
Term
| Which WBC is knows to differentiate to a mast cell and is used in mild allergic reactions? |
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Definition
|
|
Term
| All white blood cells and RBCs arise from the pluripotent myeloid lineage except? |
|
Definition
|
|
Term
| Where would one expect to find a multipotent stem cell? |
|
Definition
|
|
Term
| Most common cause of anemia? |
|
Definition
|
|
Term
| one expects to find the highest blood pressure where? |
|
Definition
| closest the large arteries of the heart. |
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|
Term
| Lymphatic vasculature is different from other types of vessels in that? |
|
Definition
| it is leaky, contains no basement membrane, and is driven by skeletal muscle contractions. |
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|
Term
| one would expect fenestrated and Sinusoidal capillaries to be found where respectively? |
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Definition
|
|
Term
| Where does fertilization occur? |
|
Definition
|
|
Term
| the inner cell mass gives rise to |
|
Definition
| embryo proper, allantois, yolk sac and amnion |
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|
Term
| The bilaminar Disk comes from where? it forms what? |
|
Definition
| comes from the inner cell mass and forms the Epiblast and hypoblast. |
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Term
| The binding of insulin or IGF can have an effect on aging by releasing what intracellular signal? |
|
Definition
|
|
Term
| the perichondrium has a fibrous layer with fibroblasts that secrete? |
|
Definition
|
|
Term
| Keratan and Chondroitan are GAGs that can be found? |
|
Definition
| attached to the protein core of aggrecan. |
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|
Term
| One would find type 6 collagen most prominent where? |
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Definition
|
|
Term
| osteoblasts are derived from_________, which are in turn derived from___________. |
|
Definition
| Osteoprogenitor cells, Mesenchymal cells |
|
|
Term
| do receptors for the JAK/STAT pathway contain specific kinase activity? |
|
Definition
| NO, the phosphorylation actually occurs by the JAKs which are bound to the receptor |
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|
Term
| Interferon Gammas eventually activate which nuclear sequence? What about alpha and beta |
|
Definition
| the GAS sequence. the ISRE |
|
|
Term
| SOCs act on which site of the JAK/STAT pathway |
|
Definition
| The JAKS, by dephosphorylation, STAT displacement, and ubiquitination(SOCs Box) |
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|
Term
| The distinguishing feature of myosin is that it has an__________ region in its head. without ATP bound, this protein is considered to be in the ____________ |
|
Definition
| ATPase activity. Rigor Conformation |
|
|
Term
| 3 things that smooth muscle lack in comparison to skeletal muscle. |
|
Definition
troponin, T-tubules,( they have t-tubules which are called caveolae)
Also they lack striations and thin filaments attach to dense bodies |
|
|
Term
| ___________ allow for the attachment of schwann cells to axons and ____________ prevents the collapse of the myeline sheath |
|
Definition
| cadherin, myelin basic protein |
|
|
Term
| why is SCID so important for gene therapy? what vector was used? |
|
Definition
It was the first truly successful example of gene therapy. It used a retrovirus.
only downside was that there was insertional mutagenesis in 1/4 of patients and caused leukemia |
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|
Term
| What was there the first trial which utilized gene therapy? What happened in 1999 |
|
Definition
| The adenosine deaminase trial with SCID. The first death due to a highly immunologic reaction |
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|
Term
| Why would gene therapy in an infant have a high success than an adult? |
|
Definition
| there are rapidly dividing cells, immature immune system |
|
|
Term
| How do you obtain an embryonic stem cell? |
|
Definition
| by removing the ICM cells from a blastocyst |
|
|
Term
| what is a nuclear transfer embryonic stem cell? What was it involved in? |
|
Definition
remove the haploid nucleus from an unfertilized egg, and transfer the genetic info of a somatic cell.
This was the method by which dolly the sheep was made. |
|
|
Term
| How do you make and induced pluripotent stem cell. |
|
Definition
| take a skin cell and put in Sox2, oct4 and Klf4. This allows the cell to differentiate into a iPSC. This is the same thing as an embryonic stem cell, but through a different path. |
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|
Term
| genetic linkage refers to? |
|
Definition
| the tendency of certain alleles to be inherited together. |
|
|
Term
| does the order of genes differ in humans? |
|
Definition
| NO the only thing that differs between humans is the expression of different alleles |
|
|
Term
| Name the location of the GLUT 1, 2, 3 and 4 transporter |
|
Definition
| 2 is in liver,3 is in brain, 4 is in muscle |
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