Talk:2011 Group Project 7

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Revision as of 10:58, 15 August 2011 by Z3291643 (talk | contribs)

Group 7: User:z3291622 | User:z3291643 | User:z3387190 | User:z3293267


--Mark Hill 07:35, 30 September 2011 (EST) Currently all students originally assigned to each group are listed as equal authors/contributors to their project. If you have not contributed the content you had originally agreed to, nor participated in the group work process, then you should contact the course coordinator immediately and either discuss your contribution or request removal from the group author list. Remember that all student online contributions are recorded by date, time and the actual contributed content. A similar email reminder will be sent to all current students.

Please note the Universities Policy regarding Plagiarism

In particular this example:

"Claiming credit for a proportion of work contributed to a group assessment item that is greater than that actually contributed;"

Academic Misconduct carries penalties. If a student is found guilty of academic misconduct, the penalties include warnings, remedial educative action, being failed in an assignment or excluded from the University for two years.

2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip

Where is the group discussion on topic selection? --Mark Hill 23:54, 7 August 2011 (EST)

Turner Syndrome

Hi guys, I think Turner Syndrome sounds really interesting. I've got a couple of links to check out, let me know how you guys feel about it. | Turner Syndrome | Optimising management in Turner syndrome: from infancy to adult transfer

--Eugene Chan 12:45, 5 August 2011 (EST)

Hey, Turner Syndrom is fine by me, seems like a good topic.

--Theodora Retzl 20:15, 9 August 2011 (EST)

  1. Estrogen requirements in girls with Turner syndrome
  1. How do you monitor the patient with Turner's syndrome in adulthood?

--Theodora Retzl 23:19, 10 August 2011 (EST)

Hey guys, since we haven't decided on a disorder yet, I thought I'll do my research on the Angelman Syndrome (the smiling syndrome) since it was one of our options anyway.

Research Article:

Greer, P., Hanayama, R., Bloodgood, B., Mardinly, A., Lipton, D., Flavell, S., & Greenber, M. (2010). The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc. Cell, 140(5), 704-716. doi:10.1016/j.cell.2010.01.026

The aim of this research paper is to find out how the Ube3A gene mutation causes cognitive impairment in individuals with Angelman Syndrome. The research is specifically looking into the role of Arc (synaptic protein) and AMPA (subtype of glutamate receptors). The experimental data suggests a relationship between the disruption of Ube3A activity and decrease in AMPA expression and how this can be utilised in the treatment of AS by using drugs that promote AMPA receptor expression.

Review Article:

Pelc, K., Cheron, G., & Dan, B. (2008). Behaviour and neuropsychiatric manifestations in Angelman Syndrome. Neuropsychiatric Disease and Treatment, 4(3), 577-584.

Angelman Syndrome is most often characterised by symptoms such as happiness, profuse smiling and poorly specific laughing. This review article sheds light on other less obvious but more debilitating features of Angelman Syndrome, such as areas of cognition, motor control, epilepsy, sleep etc. It also compares the effectiveness of behavioural management of the disease versus medication (e.g. neuroleptics or antidepressants). --z3291622 22:39, 10 August 2011 (EST)

This research article showed genotype-phenotype correlations in Angelman Syndrome (AS). They have concluded that deletion patients had worse developmental outcomes than non deletion patients. Abstract at PMID 20729760

This review article is really comprehensive and gives a good background knowledge of AS. Astract at PMID 20445456

--z3291643 21:37, 10 August 2011 (EST)

Hey, so we have Angelman Syndrome (AS) as our genetic disorder. Just a reminder for everyone to add content onto the DISCUSSION page, not the actual Project page. If you find any articles that's interesting, please paste in the references onto this discussion page. I think it'll also be good to start thinking about what we need to write on AS and start assigning the different areas for everyone, lets say by next lab?

--z3291643 13:35, 11 August 2011 (EST)

Abnormal cytokinesis and apoptosis in UBE3A knockdown cells

Abnormal cytokinesis and apoptosis in UBE3A knockdown cells

(A) Note cells undergoing cytokinesis with elongated nuclear morphology giving rise to abnormal number of nuclei. An extended midbody (arrowheads) and micronuclei (arrows) can be seen in all the panels. ASPM was found to be diffusely present at the midbody. Scale=2 µm. (B) Quantitation of apoptosis by in vivo detection of caspase-3 activity. Note UBE3A shRNA clones showed a significant increase in apoptotic cells as compared to scrambled clones. Cells were analyzed by flow cytometry using FL-1 channel (10,000 cells were measured for each sample). Mean ± SEM values for the samples is as follows: scrambled clone P=6.150±0.2972, scrambled clone K=4.920±0.0986, UBE3AshRNA clone T=7.700±0.2663, and UBE3AshRNA clone U=14.99±0.2929. Data are representative of three independent experiments. Unpaired Student's t-test was used to determine the significance of difference between scrambled and UBE3A knockdown clones.

Copyright Singhmar, Kumar. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. --Sang Lee 14:18, 11 August 2011 (EST)


Hey guys, so I'm having a bit of trouble trying to find an Angelman Syndrome related article with the open access copyright notice, can someone please help me? I found so many articles that are freely accessibly (the full article) but none of them mention anything about copyrights. This is the web address of one - Can I use the images from this article? help please. --z3291622 21:33, 14 August 2011 (EST)

Hey, I checked out the article and I don't think you can use this. As Mark mentioned last week, the articles that allow you to use their images should have a statement along the line of 'This is an open-access article distributed under the terms...'. Unfortunately, I don't know of any other easier way than to click through each article and see which one you can use images from.But for this lab assessment, it's just a matter of getting an image related to AS, so you could use the same article as mine;, and maybe choose another image. Hope it helps --Sang Lee 10:58, 15 August 2011 (EST)