Talk:2011 Group Project 7

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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 just a quick note, we should refrain from using the words "mental retardation" as this could be deemed offensive. Use "intellectual disability" as that is a more common term now used in Australia. Also use "learning difficulty" or "developmental delay". We should also encourage the use of person-first language e.g., "a child with an intellectual disability" rather than "intellectually disabled child". This promotes the idea that a person comes before their disability.

Sorry to be very specific here, but if this is going to be a public-access website we should use the appropriate terminology.

Thanks --Eugene Chan 10:41, 3 September 2011 (EST)

Yeah, sure thing. Nimeshi,I've put your timeline into a table, I've given up on trying to do a graphical timeline.

  • PMID 12566516, I found this to be really good for Clinical features of AS (Theodora), I really liked the table formatting. It's relevant for Differential diagnosis, genetic counselling and phenotype/genotype correlation. It's also got a section on Management as well for Eugene.
  • PMID 20445456, for signs and symptoms, geno/pheno correlation, diagnostic testing methods+prenatal diagnosis, treatment and management
  • PMID 15668046, genetic diagnostic testing and clinical features (again in a table format according to frequency)

Also, I think we could also add Phenotype/genotype correlation and Animal models as subsections, what do you guys think? --Sang Lee 23:12, 1 September 2011 (EST)

Hey, I think it makes more sense to compare the symptoms in adults and children in a table, rather than to draw a timeline. There are no research articles really focusing on the symptoms in every age of the patients, and the changes from year to year.--Theodora Retzl 21:13, 1 September 2011 (EST)

Hey, I've just typed in some of the information I've collected so far. I'll definitely be writing a lot more on aetiology and pathogenesis, but I thought it won't hurt to contribute to other subsections as well. I'll add the references and glossary words bit later today. Please feel free to make changes where you see necessary in my section. --Sang Lee 09:29, 1 September 2011 (EST)

Thanks Eugene.

I will write the introduction if that's alright with you guys. --Theodora Retzl 22:02, 29 August 2011 (EST)

Hi guys, I don't know if I should of done it, but I've fixed the referencing for all the pictures we uploaded except for the most recent one. I'm really not sure how to reference that one, Sang can you please ask Mark himself. From now on for referencing, just follow the exact edit layout on our pics and it should be fine. Always use the PubMed reference system by searching the title and finding the PMID.

I've also just separated the entries in the Discussion page by lines. Just add "----" at the end of your signature.

--Eugene Chan 15:51, 25 August 2011 (EST)

Of course you can Theo, I'll fix the referencing so it refers to both of us.

Also, we definitely have to post in the main page! You can post in both, but it could get messy.

--Eugene Chan 13:11, 25 August 2011 (EST)

Hey Eugene, do you mind me using the clinical profile on AS?--Theodora Retzl 10:52, 25 August 2011 (EST)

This is a good review article for genetics of AS, clinical aspects and genetic counselling of AS. I also liked the photographs of AS and PWS patients to compare, look at image on the right. Abstract at PMID 19293572

A 12 year old PWS patient and a 4 year old AS patient.

--Sang Lee 10:48, 25 August 2011 (EST)

Here are some of the papers I found so far for signs and symptoms in Angelman Syndrome:

Angelman syndrome 2005: updated consensus for diagnostic criteria PMID 16470747

Angelman syndrome revisited PMID 17848870

Angelman Syndrome PMID 20301323

Angelman syndrome: advancing the research frontier of neurodevelopmental disorders PMID 21484597

The behavioral phenotype of the Angelman syndrome PMID 20981772

--Theodora Retzl 10:34, 25 August 2011 (EST)

Prognosis and Treatment

Levels of cognitive and linguistic development in Angelman syndrome: a study of 20 children.<pubmed>11432411</pubmed>

Clinical profile of Angelman syndrome at different ages.<pubmed>7625442</pubmed>

Transmission of Angelman syndrome by an affected mother.<pubmed>11258627</pubmed>

Angelman syndrome in adulthood.<pubmed>9072912</pubmed>

Sudden Death and Angelman Syndrome.PMID 21854386

--Eugene Chan 10:29, 25 August 2011 (EST)

I agree we should start working on the main project page, but we should do that once we have collated and summarized references. I think we should all aim to have read and summarized at least 5 journal articles by next lab. Once we have posted the references and summaries on this discussion page ( incld images if you want), we should start writing out parts on the project page. I also think it'll be better to have MORE than less, so we can cut out when later on. --Sang Lee 10:18, 25 August 2011 (EST)

Hey, I actually would prefer it if we put something on the main page. It's already getting messy in the discussion page. If anything post on both the discussion and the main page. What do you guys think? --Eugene Chan 18:37, 24 August 2011 (EST)

Yup, posting on this page instead of the discussion page sounds good :) --Warnakulasooriya Fernando 13:12, 23 August 2011 (EST)

Hey,if we include related diseases (such as Prader-Willi Syndrome) this could be useful: PMID 11180221 --Theodora Retzl 16:41, 21 August 2011 (EST)

Hey, when we're collating our information for AS, I think it may be a better idea to put them onto this discussion page instead of the actual project page, cos it might get too messy and hard to work with later on. I've bolded the subsections that we have so far, I was thinking we could paste in all the relevant information underneath the respective headings (references, images, etc). Then once we have an idea of what and how we want to write it, we can start writing on the actual project page and refine it later on... what do you guys think? --Sang Lee 20:20, 18 August 2011 (EST)

Hey, I think we could also include Related Diseases (such as Prader-Willi Syndrome)--Sang Lee 13:14, 18 August 2011 (EST)

I'll go do the Prognosis and Treatment then. Do we need a Epidemiology or Demography to add as well?

--Eugene Chan 09:55, 18 August 2011 (EST)

EEG in Angelman syndrome mice with a maternal deletion from Ube3a to Gabrb3

Multielectrode continuous EEG tracing shows representative generalized rapid cortical spike seizure discharge in freely moving m−/p+ deletion mice. Top-bottom: temporal (T), parietal (P), and occipital leads (O) alternating between left (L) and right hemisphere (R) indicated as LT, RT, LP, RP, LO, and RO. The six panels in the top tracing were continued in the lower section. Single arrow indicates the onset of sudden isolated giant spike-wave discharges with no behavioral accompaniment, and double arrow marks progression to higher spike discharge frequencies

EEG in Angelman syndrome mice with a maternal deletion from Ube3a to Gabrb3

Original file name: Figure4 Pone.0012278.g004.jpg

Reference <pubmed>20808828</pubmed>| PMC2924885 | PLoS One.

Copyright Jiang et al. 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. --Theodora Retzl 23:52, 17 August 2011 (EST)

Great, also, if you come across some good articles that contain information other than your own category, I think it'll be nice to give a link to it. Just indicated who's doing what for now.--Sang Lee 21:00, 17 August 2011 (EST)

The list looks good. I will start researching the signs ans symptoms of AS, if you don't mind. --Theodora Retzl 19:38, 17 August 2011 (EST)

Clever thinking, the list is definitely a good way to get this group project moving. I'll start researching on the history and diagnosis of AS :) --z3291622 18:55, 17 August 2011 (EST)

Hey Eugene, no worries. I've compiled some possible things we could write about for AS,

1 Introduction; Theodora
2 History; z3291622
  • timeline
  • important people who contributed to AS, etc
3 Incidence
4 Aetiology (genetic inheritance); Julia
5 Pathophysiology; Julia (as it's quite linked with aetiology anyway)
6 Signs and Symptoms (maybe break this down to..); Theodora
  • physical
  • behavioural
  • mental
  • common features
  • rare features
7 Diagnosis; z3291622
8 Prognosis; Eugene
9 Treatment; Eugene
10 Management; Eugene
11 Current and Future Research

The above are the main points and I think we should also consider..

Notable people with AS (just to make AS more relatable and interesting)
  • Glossary at the end (+References)
External links
Support for parents of children with AS-Genetic couselling
Differential diagnosis (if relevant?)
Related Diseases (such as Prader-Willi Syndrome)

Please add or take away whatever you think is necessary, and choose what you would like to write about. I'd like to do my research on the aetiology of AS if that's ok. --Sang Lee 03:22, 17 August 2011 (EST)

Chromosome segregation defects associated with abnormal spindles in UBE3A shRNA knockdown clones

Chromosome segregation defects associated with abnormal spindles in UBE3A shRNA knockdown clones.

Examples of cells attempting to divide with missegregated (clone T, anaphase) and lagging chromosomes (clone U, telophase) (arrows). Also note cells with chromosomes hanging at the equatorial plane (clone U, anaphase and clone T, telophase) (arrows). Note the cells have disorganized mitotic spindles (all four panels) and bundling of microtubules at the central spindle (clone U, telophase) and at MTOC (clone T, anaphase). Scale=2 µm.

Original file name: Figure 7 pone.0020397.g007.jpg

Reference: <pubmed>21633703</pubmed>|PMC3102111 | PLoS One

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.

Sorry Sang, I copied off your article without checking first. At least it's a different picture.

--Eugene Chan 22:13, 16 August 2011 (EST)

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. --z3291622 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)