Publications:

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Novel Insights into the Therapeutic Potential of Lung-Targeted Gene Transfer in the Most Common Respiratory Diseases.

Cells

Bisserier, Malik M; Sun, Xiao-Qing XQ; Fazal, Shahood S; Turnbull, Irene C IC; Bonnet, Sébastien S; Hadri, Lahouaria L

Publication Date: 2022-03-12

Variant appearance in text: CFTR: Glu264Val

PubMed Link: 35326434

Variant Present in the following documents:

• Main text
• cells-11-00984.pdf

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Abstracts from the Irish Thoracic Society Annual Scientific Meeting 2021.

Irish Journal Of Medical Science

Publication Date: 2021-12

Variant appearance in text: CFTR: Glu264Val

PubMed Link: 34904212

Variant Present in the following documents:

• Main text
• 11845_2021_Article_2845.pdf

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Abstracts from the Irish Thoracic Society Annual Scientific Meeting 2021.

Irish Journal Of Medical Science

Publication Date: 2021-12

Variant appearance in text: CFTR: Glu264Val

PubMed Link: 34904212

Variant Present in the following documents:

• Main text
• 11845_2021_Article_2845.pdf

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Update on Alpha-1 Antitrypsin Deficiency in Liver Disease.

Clinical Liver Disease

Narayanan, Praveena P; Mistry, Pramod K PK

Publication Date: 2020-06

Variant appearance in text: CFTR: Glu264Val

PubMed Link: 32617155

Variant Present in the following documents:

• Main text

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The impact of alpha-1 antitrypsin augmentation therapy on neutrophil-driven respiratory disease in deficient individuals.

Journal Of Inflammation Research

Dunlea, Danielle M DM; Fee, Laura T LT; McEnery, Thomas T; McElvaney, Noel G NG; Reeves, Emer P EP

Publication Date: 2018

Variant appearance in text: CFTR: Glu264Val

PubMed Link: 29618937

Variant Present in the following documents:

• Main text
• jir-11-123.pdf

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Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Bmc Medical Genomics

Gal, Moran M; Khermesh, Khen K; Barak, Michal M; Lin, Min M; Lahat, Hadas H; Reznik Wolf, Haike H; Lin, Michael M; Pras, Elon E; Levanon, Erez Y EY

Publication Date: 2016-05-13

Variant appearance in text: CFTR: E264V

PubMed Link: 27175728

Variant Present in the following documents:

• Main text

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Deficient and Null Variants of SERPINA1 Are Proteotoxic in a Caenorhabditis elegans Model of α1-Antitrypsin Deficiency.

Plos One

Cummings, Erin E EE; O'Reilly, Linda P LP; King, Dale E DE; Silverman, Richard M RM; Miedel, Mark T MT; Luke, Cliff J CJ; Perlmutter, David H DH; Silverman, Gary A GA; Pak, Stephen C SC

Publication Date: 2015

Variant appearance in text: CFTR: E264V

PubMed Link: 26512890

Variant Present in the following documents:

• Main text
• pone.0141542.pdf

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The tumor necrosis factor α (-308 A/G) polymorphism is associated with cystic fibrosis in Mexican patients.

Plos One

Sanchez-Dominguez, Celia N CN; Reyes-Lopez, Miguel A MA; Bustamante, Adriana A; Cerda-Flores, Ricardo M RM; Villalobos-Torres, Maria Del C Mdel C; Gallardo-Blanco, Hugo L HL; Rojas-Martinez, Augusto A; Martinez-Rodriguez, Herminia G HG; Barrera-Saldaña, Hugo A HA; Ortiz-Lopez, Rocio R

Publication Date: 2014

Variant appearance in text: CFTR: Glu264Val

PubMed Link: 24603877

Variant Present in the following documents:

• Main text
• pone.0090945.pdf

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Histone deacetylase inhibitor (HDACi) suberoylanilide hydroxamic acid (SAHA)-mediated correction of α1-antitrypsin deficiency.

The Journal Of Biological Chemistry

Bouchecareilh, Marion M; Hutt, Darren M DM; Szajner, Patricia P; Flotte, Terence R TR; Balch, William E WE

Publication Date: 2012-11-02

Variant appearance in text: CFTR: E264V

PubMed Link: 22995909

Variant Present in the following documents:

• Main text

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Gene targeted therapeutics for liver disease in alpha-1 antitrypsin deficiency.

Biologics : Targets & Therapy

McLean, Caitriona C; Greene, Catherine M CM; McElvaney, Noel G NG

Publication Date: 2009

Variant appearance in text: CFTR: Glu264Val

PubMed Link: 19707397

Variant Present in the following documents:

• btt-3-063.pdf

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