An Overview of the Homozygous Cystic Fibrosis Transmembrane Conductance Regulator Mutation c.3700 A>G (p.Ile1234Val) in Qatar
<h3>Purpose of Review</h3> <p>Cystic fibrosis (CF) is a monogenic recessive disease with multisystem involvement. The cause is a mutation in the gene that encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The aim is to review the literature involving t...
محفوظ في:
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| مؤلفون آخرون: | , , , |
| منشور في: |
2019
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إضافة وسم
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| _version_ | 1864513567138512896 |
|---|---|
| author | Samer Hammoudeh (3095097) |
| author2 | Wessam Gadelhak (14070756) Atqah AbdulWahab (14070759) Mona Al-Langawi (14070762) Ibrahim A. Janahi (14070765) |
| author2_role | author author author author |
| author_facet | Samer Hammoudeh (3095097) Wessam Gadelhak (14070756) Atqah AbdulWahab (14070759) Mona Al-Langawi (14070762) Ibrahim A. Janahi (14070765) |
| author_role | author |
| dc.creator.none.fl_str_mv | Samer Hammoudeh (3095097) Wessam Gadelhak (14070756) Atqah AbdulWahab (14070759) Mona Al-Langawi (14070762) Ibrahim A. Janahi (14070765) |
| dc.date.none.fl_str_mv | 2019-11-22T06:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1007/s40142-019-00174-7 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/An_Overview_of_the_Homozygous_Cystic_Fibrosis_Transmembrane_Conductance_Regulator_Mutation_c_3700_A_G_p_Ile1234Val_in_Qatar/21597789 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Cystic fibrosis CFTR CFTR mutation CFTR I1234V |
| dc.title.none.fl_str_mv | An Overview of the Homozygous Cystic Fibrosis Transmembrane Conductance Regulator Mutation c.3700 A>G (p.Ile1234Val) in Qatar |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <h3>Purpose of Review</h3> <p>Cystic fibrosis (CF) is a monogenic recessive disease with multisystem involvement. The cause is a mutation in the gene that encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The aim is to review the literature involving the CFTR I1234V mutation and to provide recommendations for future research activities.</p> <h3>Recent Findings</h3> <p>The prevalence rates of CFTR mutations vary across the globe. The CFTR I1234V mutation is the most common mutation in Qatar, and one of the most common in the Arabian Gulf region.</p> <h3>Summary</h3> <p>Areas for future research include testing of the CFTR transcript and activity levels in different samples including nasal cells and organoids. Another area is applying Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) technology as a tool for gene editing.</p> <h2>Other Information</h2> <p>Published in: Current Genetic Medicine Reports<br> License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br> See article on publisher's website: <a href="http://dx.doi.org/10.1007/s40142-019-00174-7" target="_blank">http://dx.doi.org/10.1007/s40142-019-00174-7</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_f2afb94466892044103a65d01e5a96ac |
| identifier_str_mv | 10.1007/s40142-019-00174-7 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/21597789 |
| publishDate | 2019 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | An Overview of the Homozygous Cystic Fibrosis Transmembrane Conductance Regulator Mutation c.3700 A>G (p.Ile1234Val) in QatarSamer Hammoudeh (3095097)Wessam Gadelhak (14070756)Atqah AbdulWahab (14070759)Mona Al-Langawi (14070762)Ibrahim A. Janahi (14070765)Biological sciencesGeneticsBiomedical and clinical sciencesClinical sciencesCystic fibrosisCFTRCFTR mutationCFTR I1234V<h3>Purpose of Review</h3> <p>Cystic fibrosis (CF) is a monogenic recessive disease with multisystem involvement. The cause is a mutation in the gene that encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The aim is to review the literature involving the CFTR I1234V mutation and to provide recommendations for future research activities.</p> <h3>Recent Findings</h3> <p>The prevalence rates of CFTR mutations vary across the globe. The CFTR I1234V mutation is the most common mutation in Qatar, and one of the most common in the Arabian Gulf region.</p> <h3>Summary</h3> <p>Areas for future research include testing of the CFTR transcript and activity levels in different samples including nasal cells and organoids. Another area is applying Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) technology as a tool for gene editing.</p> <h2>Other Information</h2> <p>Published in: Current Genetic Medicine Reports<br> License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br> See article on publisher's website: <a href="http://dx.doi.org/10.1007/s40142-019-00174-7" target="_blank">http://dx.doi.org/10.1007/s40142-019-00174-7</a></p>2019-11-22T06:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1007/s40142-019-00174-7https://figshare.com/articles/journal_contribution/An_Overview_of_the_Homozygous_Cystic_Fibrosis_Transmembrane_Conductance_Regulator_Mutation_c_3700_A_G_p_Ile1234Val_in_Qatar/21597789CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/215977892019-11-22T06:00:00Z |
| spellingShingle | An Overview of the Homozygous Cystic Fibrosis Transmembrane Conductance Regulator Mutation c.3700 A>G (p.Ile1234Val) in Qatar Samer Hammoudeh (3095097) Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Cystic fibrosis CFTR CFTR mutation CFTR I1234V |
| status_str | publishedVersion |
| title | An Overview of the Homozygous Cystic Fibrosis Transmembrane Conductance Regulator Mutation c.3700 A>G (p.Ile1234Val) in Qatar |
| title_full | An Overview of the Homozygous Cystic Fibrosis Transmembrane Conductance Regulator Mutation c.3700 A>G (p.Ile1234Val) in Qatar |
| title_fullStr | An Overview of the Homozygous Cystic Fibrosis Transmembrane Conductance Regulator Mutation c.3700 A>G (p.Ile1234Val) in Qatar |
| title_full_unstemmed | An Overview of the Homozygous Cystic Fibrosis Transmembrane Conductance Regulator Mutation c.3700 A>G (p.Ile1234Val) in Qatar |
| title_short | An Overview of the Homozygous Cystic Fibrosis Transmembrane Conductance Regulator Mutation c.3700 A>G (p.Ile1234Val) in Qatar |
| title_sort | An Overview of the Homozygous Cystic Fibrosis Transmembrane Conductance Regulator Mutation c.3700 A>G (p.Ile1234Val) in Qatar |
| topic | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Cystic fibrosis CFTR CFTR mutation CFTR I1234V |