X

Download Achondroplasia University PowerPoint Presentation

SlidesFinder-Advertising-Design.jpg

Login   OR  Register
X


Iframe embed code :



Presentation url :

Home / Health & Wellness / Health & Wellness Presentations / Achondroplasia University PowerPoint Presentation

Achondroplasia University PowerPoint Presentation

Ppt Presentation Embed Code   Zoom Ppt Presentation

PowerPoint is the world's most popular presentation software which can let you create professional Achondroplasia University powerpoint presentation easily and in no time. This helps you give your presentation on Achondroplasia University in a conference, a school lecture, a business proposal, in a webinar and business and professional representations.

The uploader spent his/her valuable time to create this Achondroplasia University powerpoint presentation slides, to share his/her useful content with the world. This ppt presentation uploaded by worldwideweb in Health & Wellness ppt presentation category is available for free download,and can be used according to your industries like finance, marketing, education, health and many more.

About This Presentation

Slide 1 - Achondroplasia: Dwarfism Kelly LaBarre
Slide 2 - Clinical Features Achondroplasia literally means “without cartilage formation.” Presents clinically as a long narrow trunk with short extremities, large head with frontal bossing, hypoplasia of the midface, and trident configuration of the hands. An autosomal dominant disorder; a majority of cases are sporadic, the result of a de novo mutation. A de novo mutation is a new mutation that occurs in a germ cell and is then passed on to an offspring.
Slide 3 - FGFR3 Gene The gene affected is the Fibroblast Growth Factor Receptor 3 gene, of FGFR3. FGFR3 is located on chromosome 4, 4p16.3
Slide 4 - Mutation There is a G to A transition at nucleotide 1138 of the coding sequence resulting in a gly380 to arg substitution. Glycine is a basic side chain with its positive charge stabilized by resonance. Arginie is a nonpolar side chain consisting of a single hydrogen atom. GGG changes to AGG in the majority of the cases of achondroplasia.
Slide 5 - Protein Function These proteins play a role in several important cellular processes, including regulation of cell growth and division, determination of cell type, formation of blood vessels, wound healing, and embryo development. FGFR3 is a transmembrane protein. The FGFR3 protein is involved in the development and maintenance of bone and brain tissue. Researchers believe that this receptor regulates bone growth by limiting the formation of bone from cartilage in the long bones.
Slide 6 - Conserved Domains Most of the sections of the conserved domains are tyrosine kinases, which are enzymes that can transfer a phosphate group from ATP to a tyrosine residue in a protein. This is important because FGFR3 is a transmembrane protein that can interact outside the cell to create a cascade of events inside. The remainder of the conserved domains are immunoglobulin chains.
Slide 7 - 3D Representation This is an FGFR1 molecule, the alpha chain is white and the beta chain is blue. It has similar function but different structure than FGFR3. At the 380 position it has a glutamine, which would change to asparganine with the point mutation, but this is not what causes achondroplasia.
Slide 8 - Aberrant Function The glycine to arginine switch in the protein structure can create, obviously, large problems. Since the glycine side chain is so much smaller and without a charge, the binding sites and structure of the final protein are altered. arginine glycine
Slide 9 - Why? The normal function of FGFR3 is to slow down the formation of bone by inhibiting the proliferation of chondrocytes, the cells that produce cartilage. The mutation increases the activity of FGFR3, severely limiting bone growth. The mutant receptors actually work better than the wild-type.
Slide 10 - References GeneReviews Editor-in-chief: Pagon, Roberta A. Associate editors: Cassidy, Suzanne B.; Bird, Thomas C.; Dinulos, Mary Beth; Feldman, Gerald L.; Smith, Richard J.H.; Dolan, Cynthia R. Technical editor: Baskin, Patricia K. Seattle (WA): University of Washington; 1993-2006 Genes and disease. Bethesda (MD): National Library of Medicine (US), NCBI. Human Molecular Genetics 2 2nd ed. Strachan, Tom and Read, Andrew P. New York and London: Garland Science; c1999 http://www.ncbi.nlm.nih.gov/BLAST/ http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM RCSB Protein Data Bank : http://www.rcsb.org/pdb/home/home.do
 

Frequently Asked Questions

> About SlidesFinder?

Slidesfinder is a website that allows users to upload and share their PowerPoint presentations online. It provides a platform for individuals and businesses to share their ideas and knowledge through presentations, and for others to view and download these presentations for educational or professional purposes.
Slidesfinder offers a wide range of presentation topics and categories, including business, education, science, technology, health, and more. Users can also search for presentations using keywords, tags, or by category. The website provides tools to create professional presentations with rich media, animations, and graphics.



One of the key features of Slidesfinder is its user-friendly interface, which allows users to easily upload, view, and share presentations. Users can also embed their presentations in their websites or blogs using the website's embed code feature.
Slidesfinder also offers premium services, such as the ability to create private presentations and to download presentations in high-quality formats. However, the basic features of Slidesfinder are free to use, making it accessible to anyone who wants to share their ideas and knowledge through presentations.

> How do I register with SlidesFinder?

Go to registration page (you can see signup link on top of website page) https://www.slidesfinder.com/signup . If you have facebook/gmail account them just click on SIGN IN WITH FACEBOOK OR SIGN IN WITH GOOGLE button, by this you will be a registered member of slidesfinder without filling any form, required detail automatically will be fatch from your account. If you do not a Facebook account, then click on "Signup". Fill all required fields and you will be a registered member of slidesfinder.

> Is slidesfinder account confirmation is mandatory?

Yes it is mandetory to active your account to login.

> Do I need to signup/login on SlidesFinder before uploading a PowerPoint presentation?

Yes, you need to login with your account before uploading presentation. Your username will be displayed on your uploaded presentation. Your registered email id is needed for sending your stats of uploaded presentation.

Slidesfinder is a sharing website for PowerPoint presentations search and share. Find your interest in the form of powerpoint presentations on slidesfinder and save your valuable time . On Slidesfinder you get presentations from our huge library of professional ppt presentations. We believe in making your search INFORMATIVE and FUN. Find your best ppt presentation from a pool of PowerPoint presentations stacked under important industry categories like business & management, heath & Wellness,eduction & training etc. We provide unique informative PowerPoint presentation for marketers, presenters and educationists. These professional PowerPoint presentations are uploaded by professionals from across numerous industry segments.These ppt presentations are available for FREE download.

Not just finding your interest, but facilitate you broadcast your interest. We have created this platform for easy sharing of PowerPoint presentations, ensuring that these presentations get maximum exposure. Create your slidesfinder account and upload PowerPoint presentations for free, share on social media platforms and BUILD YOUR CROWD WITH PRESENTATION !!

The Great Buddha says, "Share your knowledge.It’s a way to achieve immortality"! So, start sharing knowledge and we are here to make that immortal !!

© 2013-2024 SlidesFinder. All rights reserved.

Re-productivity of content are not allowed. Without prior written permission from author, commercial use of any content is illegal.