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Cystinosis and CTNS - Intro

This web page was produced as an assignment for  Genetics 564  at  UW-Madison  in Spring 2016.

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Cystinosis and CTNS - Intro | carranzagen564s16.weebly.com Reviews
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This web page was produced as an assignment for  Genetics 564  at  UW-Madison  in Spring 2016.
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1 cystinosis and ctns
2 intro
3 protein
4 homology
5 phylogeny
6 ontology
7 domains
8 interaction networks
9 protein modifications
10 mutant phenotypes/ rnai
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cystinosis and ctns,intro,protein,homology,phylogeny,ontology,domains,interaction networks,protein modifications,mutant phenotypes/ rnai,specific aims,conclusions,at uw madison,what is cystinosis,ctns gene,the “,fasta,nature genetics,the embo journal
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Cystinosis and CTNS - Intro | carranzagen564s16.weebly.com Reviews

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This web page was produced as an assignment for  Genetics 564  at  UW-Madison  in Spring 2016.

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Specific Aims - Cystinosis and CTNS

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This web page was produced as an assignment for Genetics 564. 65279;Specific Aims. Cystinosis is a rare autosomal recessive disorder that affects transportation of cystine through the lysosome membrane. There are three distinct types of cystinosis disorders including: nephropathic, intermediate, and non-nephropathic. All types of cystinosis are commonly caused by a 57kb deletion and are clinically recognized by renal failure, crystal formations in the cornea, or both [1]. Organisms with eyes have a shor...

2

Conclusions - Cystinosis and CTNS

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This web page was produced as an assignment for Genetics 564. Cystinosis is a rare autosomal recessive disorder that affects transportation of cystine through the lysosome membrane. There are three distinct types of cystinosis disorders including: nephropathic, intermediate, and non-nephropathic. All types of cystinosis are commonly caused by a 57kb deletion and are clinically recognized by renal failure, crystal formations in the cornea, or both [1]. In my first aim to testing my hypothesis I determine ...

3

Domains - Cystinosis and CTNS

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This web page was produced as an assignment for Genetics 564. What is a protein domain? Domains are unique structural units within a protein and often have a functional purpose. These peptide segments are studied to gain insight on what a function and interaction a protein has [ 1. What is a motif? A motif is a region of a molecular sequence or a structural unit that often times provide a protein function [ . What are the domains and motifs in CTNS? CTNS contains seven transmembrane domains.

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Protein Modifications - Cystinosis and CTNS

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This web page was produced as an assignment for Genetics 564. What are protein modifications? Protein modifications are changes a protein undergoes to reach its mature protein state. These modifications occur following translation and can be as simple as the removal of the methionine used to initiate translation or as complex as adding twenty carbon chain group. Other types of modifications include acylation, phosphorylation, and sulfation [ 1. Create a free website.

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Interaction Networks - Cystinosis and CTNS

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This web page was produced as an assignment for Genetics 564. What are protein interaction networks? Protein interaction provide an additional support in the association regarding cell components and cell process. Many proteins rely on interactions to fulfill carrying out their function and disruptions in their interaction within a cell could result in cell death. Protein interaction networks are the assembly of all the known and predicted interactions between proteins [ 1. Create a free website.

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Projects - Genetics 564

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Spring 2016 Student Projects. Matthew Busalacchi: Familial Melanoma and Pigmentation (MC1R). Salvador Carranza: Cystinosis (CTNS). Mikayla Gallenberger: Acute Lymphoblastic Leukemia (PAX5). Sara Grange: Synesthesia (KIAA0319). Aidan Holmes: Wilson Disease (ATP7B). Bailey Marquardt: Developmental Dyslexia (ROBO1). Troy Meikle: Autoimmune lymphoproliferative syndrome (FAS). Mary Mohr: Cardiovascular Disease in Women (BCAR1/p130CAS). Kathryn Ness: CHARGE Syndrome (CHD7). Tia Ramirez: FOXG1 Syndrome (FOXG1).

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Cystinosis and CTNS - Intro

This web page was produced as an assignment for Genetics 564. Fig 1: Model of an autosomal ressesive inheritance pattern. Fig 2: Simple anatomy of a cellular lysosome. Cystinosis consists of a group of three distinct types referred to as are nephropathic, intermediate, and non-nephropathic [1]. Nephropathic cystinosis is the most severe type with onset occurring in newborns while non-nephropathic is observed in adults in the form of mild ocular crystals. Cystinosin, lysosomal cystine transporter”. Or CTN...

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