Talk:2011 Group Project 7

From Embryology

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

Hey guys, I just made the discussion so that the most recent comments are at the top as required, so please add new comments to the top of the page from now on, thanks --Sang Lee 11:55, 15 August 2011 (EST)

===Epilepsy in patients with Angelman Syndrome ===

Sublte Finger Tremors-Angelman Syndrome

Subtle finger tremors. A five months old boy with Angelman syndrome and drug resistant infantile spasms.

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 work is properly cited. --Warnakulasooriya Fernando 00:01, 16 August 2011 (EST)

UBE3A colocalizes with ASPM at the centrosome throughout mitosis

UBE3A colocalizes with ASPM at the centrosome throughout mitosis

UBE3A colocalizes with ASPM at the centrosome. (A) Indirect immunofluorescence of HEK293 cells at interphase and different phases of mitosis stained with antibodies against ASPM and UBE3A (anti-UBE3A-sc-8926). Note colocalization of UBE3A with ASPM at the centrosome throughout mitosis (arrowheads). Note weak centrosomal staining of UBE3A in an interphase cell (arrow). (B) Indirect immunofluorescence of A549 cells stained with antibodies against UBE3A (anti-UBE3A-sc-8926) and ASPM at metaphase and telophase. Note colocalization of UBE3A with ASPM at the centrosome (arrowheads). Scale bar=2 µm.

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 11:25, 15 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)


- 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, 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)

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 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)

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

--Theodora Retzl 23:19, 10 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

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)

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