Pathophysiology: Proteus syndrome is caused by an activating somatic mosaic mutation in AKT1, a gene which encodes the well-studied serine/threonine kinase PKB/Akt .1,2 Akt is the key mediator of the PI3K signaling pathway. In response to a growth signal (e.g. IGF, EGF) and the autophosphorylation of a receptor tyrosine kinase, PI3K is recruited and activated, generating PIP¬3 molecules at the lipid membrane. These partially activate Akt and also activate PDK1/2, which complete the Akt…
One in every 15,000 to 40,000 children have the disease known as achondroplasia. Achondroplasia is a genetic disease that occurs because of a mutation in the gene FGFR3 and is also the most common form of dwarfism known. The purpose of the gene FGFR3 is to make the proteins that are vital in the formation of bone tissue within the body. Because of this mutation people with achondroplasia have significantly shorter limbs than the normal person making them significantly shorter than most people…
D128N Mutation in GFAP gene As it has already been studied that mutation occur at various locations on the GFAP gene, it depends on the specific point where it occurs that could result in severe consequential neurodegeneration. The mutations on the GFAP gene has already contributed for about 96% of all the cases of Alexander’s. Various other side effects that could be seen with the onset of Alexzander’s disease are GFAP aggregation, astrocyte degradation, glial injury etc. This specific…
bonds being much stronger than covalent bonds, and therefore much more difficult to break, therefore leading to a higher melting point. Which would explain it melting last. By looking at the results that I obtained and by looking at scientific reasoning to why these results occurred it is reliable to say that intermolecular forces do indeed have an impact on the melting point and overall energy required…
Homeobox, also known as HOX genes, are genes that determine organ and limb formation during early embryonic development. Frances R. Goodman writes in his article “Limb Malformations and the Human HOX Genes” that humans have 39 HOX genes which are organized into four clusters. They have their own roles in the development of the central nervous system, axial skeleton, genitalia, and limbs. The study of HOX genes can lead to the identities of a number of human malformations. According to Shane C.…
5:30 a.m. read my clock. “Matthew, we should probably get up now.” I said, while stretching my arms. “Yeah, OK,” Matthew said groggily. I quickly got dressed and headed downstairs. When I reached the bottom step, I saw my mom packing food for the ride. I started peering into the early morning, waiting for a black car to pull into our driveway, because we were going there with our friend Casey and his mom. Then, after what felt like waiting forever, a black car pulled up into our driveway. “Mom,…
Six Flags You drive to six flags you see big roller coasters and you see lots of families having fun and people eating food from the concession stands and people waiting to get on their favorite rides there's people waiting to get there pizza and ice cream and you and people waiting to go on the superman and the goliath and the X flight their favorite rides in the whole park and you want to be first in line so you run to the the rollercoaster bumping into people and and trash cans so you can…
an essential. Nearly every drinking beverage in America contains caffeine such as coffee, tea, and energy drinks. As Gladwell mentions the growth of caffeine, it has become one of the most useful/common drugs. Caffeine has become addictive to the point where everyday working people rely on the usage of caffeine to continue their performance while keeping focus on what they are assigned to do. Moreover,…
Cedar Point, the Roller Coaster Capital of the world, certainly lives up to its title. Scattered throughout the park are some of the most intense roller coasters you’ll ever hear of. I was fortunate enough to have experienced the phenomenon of riding atop the Top Thrill Dragster over summer vacation, which lasted only 20 seconds of real time, but will forever be embedded within my long-lasting memory. The fiery orange sun began to submerge below the line of the horizon, far out across the calm…
Perez 1 14 Points The 14 points was first brought up in January 1918. The president at the time was President Woodrow Wilson. When the 14 points was first brought up, it was almost like a plan to try to make world peace negotiations after World War I. The first point was open diplomacy, which means there should not be any private international understandings. Second point, freedom of seas, where navigation in the seas is absolutely free. The third point, Removal of economic barriers, removal of…