Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: CFTR: 1466C>A; Ser489Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases

Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X

Publication Date: 2022-03-21

Variant appearance in text: CFTR: 1466C>A; S489X

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM3_ESM.xls, sheet 1

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Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.

The European Respiratory Journal

Muilwijk, Danya D; de Poel, Eyleen E; van Mourik, Peter P; Suen, Sylvia W F SWF; Vonk, Annelotte M AM; Brunsveld, Jesse E JE; Kruisselbrink, Evelien E; Oppelaar, Hugo H; Hagemeijer, Marne C MC; Berkers, Gitte G; de Winter-de Groot, Karin M KM; Heida-Michel, Sabine S; Jans, Stephan R SR; van Panhuis, Hannah H; van der Eerden, Menno M MM; van der Meer, Renske R; Roukema, Jolt J; Dompeling, Edward E; Weersink, Els J M EJM; Koppelman, Gerard H GH; Vries, Robert R; Zomer-van Ommen, Domenique D DD; Eijkemans, Marinus J C MJC; van der Ent, Cornelis K CK; Beekman, Jeffrey M JM

Publication Date: 2022-08

Variant appearance in text: CFTR: 1466C>A; S489X

PubMed Link: 35086832

Variant Present in the following documents:

• ERJ-00508-2021.Supplement.pdf

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Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research

Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C

Publication Date: 2021-12

Variant appearance in text: CFTR: S489X

PubMed Link: 34857524

Variant Present in the following documents:

• bmjresp-2021-000998supp001.pdf

View BVdb publication page

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Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research

Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C

Publication Date: 2021-12

Variant appearance in text: CFTR: S489X

PubMed Link: 34857524

Variant Present in the following documents:

• bmjresp-2021-000998supp001.pdf

View BVdb publication page

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Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics

Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W

Publication Date: 2021-11-05

Variant appearance in text: rs397508211

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs397508211

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: CFTR: 1466C>A; Ser489Ter; rs397508211

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Cystic Fibrosis Lung Disease in the Aging Population.

Frontiers In Pharmacology

Künzi, Lisa L; Easter, Molly M; Hirsch, Meghan June MJ; Krick, Stefanie S

Publication Date: 2021

Variant appearance in text: CFTR: S489X

PubMed Link: 33935699

Variant Present in the following documents:

• Main text

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CFTR Deficiency Affects Glucose Homeostasis via Regulating GLUT4 Plasma Membrane Transportation.

Frontiers In Cell And Developmental Biology

Gu, Junzhong J; Zhang, Weiwei W; Wu, Lida L; Gu, Yuchun Y

Publication Date: 2021

Variant appearance in text: CFTR: S489X

PubMed Link: 33659254

Variant Present in the following documents:

• Main text
• fcell-09-630654.pdf

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Synergy between Readthrough and Nonsense Mediated Decay Inhibition in a Murine Model of Cystic Fibrosis Nonsense Mutations.

International Journal Of Molecular Sciences

McHugh, Daniel R DR; Cotton, Calvin U CU; Hodges, Craig A CA

Publication Date: 2020-12-31

Variant appearance in text: CFTR: S489X

PubMed Link: 33396210

Variant Present in the following documents:

• Main text

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Heterogeneous expression of CFTR in insulin-secreting β-cells of the normal human islet.

Plos One

Di Fulvio, Mauricio M; Bogdani, Marika M; Velasco, Myrian M; McMillen, Timothy S TS; Ridaura, Cecilia C; Kelly, Lisa L; Almutairi, Mohammed M MM; Kursan, Shams S; Sajib, Abu A AA; Hiriart, Marcia M; Aguilar-Bryan, Lydia L

Publication Date: 2020

Variant appearance in text: CFTR: S489X

PubMed Link: 33264332

Variant Present in the following documents:

• Main text
• pone.0242749.pdf

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Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.

International Journal Of Neonatal Screening

Sinclair, Graham G; McMahon, Vanessa V; Schellenberg, Amy A; Nelson, Tanya N TN; Chilvers, Mark M; Vallance, Hilary H

Publication Date: 2020-06

Variant appearance in text: CFTR: S489X

PubMed Link: 33073036

Variant Present in the following documents:

• IJNS-06-00046-s001.xlsx, sheet 1

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Impaired Renal HCO3 - Excretion in Cystic Fibrosis.

Journal Of The American Society Of Nephrology : Jasn

Berg, Peder P; Svendsen, Samuel L SL; Sorensen, Mads V MV; Larsen, Casper K CK; Andersen, Jesper Frank JF; Jensen-Fangel, Søren S; Jeppesen, Majbritt M; Schreiber, Rainer R; Cabrita, Ines I; Kunzelmann, Karl K; Leipziger, Jens J

Publication Date: 2020-08

Variant appearance in text: CFTR: S489X

PubMed Link: 32703846

Variant Present in the following documents:

• Main text

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CFTR dysregulation drives active selection of the gut microbiome.

Plos Pathogens

Meeker, Stacey M SM; Mears, Kevin S KS; Sangwan, Naseer N; Brittnacher, Mitchell J MJ; Weiss, Eli J EJ; Treuting, Piper M PM; Tolley, Nicholas N; Pope, Christopher E CE; Hager, Kyle R KR; Vo, Anh T AT; Paik, Jisun J; Frevert, Charles W CW; Hayden, Hillary S HS; Hoffman, Lucas R LR; Miller, Samuel I SI; Hajjar, Adeline M AM

Publication Date: 2020-01

Variant appearance in text: CFTR: S489X

PubMed Link: 31961914

Variant Present in the following documents:

• Main text
• ppat.1008251.pdf

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Reduced expression of the Ion channel CFTR contributes to airspace enlargement as a consequence of aging and in response to cigarette smoke in mice.

Respiratory Research

Wellmerling, Jack H JH; Chang, Sheng-Wei SW; Kim, Eunsoo E; Osman, Wissam H WH; Boyaka, Prosper N PN; Borchers, Michael T MT; Cormet-Boyaka, Estelle E

Publication Date: 2019-09-02

Variant appearance in text: CFTR: S489X

PubMed Link: 31477092

Variant Present in the following documents:

• Main text

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A BAC Transgene Expressing Human CFTR under Control of Its Regulatory Elements Rescues Cftr Knockout Mice.

Scientific Reports

Gawenis, Lara R LR; Hodges, Craig A CA; McHugh, Daniel R DR; Valerio, Dana M DM; Miron, Alexander A; Cotton, Calvin U CU; Liu, Jinghua J; Walker, Nancy M NM; Strubberg, Ashlee M AM; Gillen, Austin E AE; Mutolo, Michael J MJ; Kotzamanis, George G; Bosch, Jürgen J; Harris, Ann A; Drumm, Mitchell L ML; Clarke, Lane L LL

Publication Date: 2019-08-14

Variant appearance in text: CFTR: S489X

PubMed Link: 31413336

Variant Present in the following documents:

• 41598_2019_Article_48105.pdf

View BVdb publication page

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Clinically-approved CFTR modulators rescue Nrf2 dysfunction in cystic fibrosis airway epithelia.

The Journal Of Clinical Investigation

Borcherding, Dana C DC; Siefert, Matthew E ME; Lin, Songbai S; Brewington, John J; Sadek, Hesham H; Clancy, John P JP; Plafker, Scott M SM; Ziady, Assem G AG

Publication Date: 2019-05-30

Variant appearance in text: CFTR: S489X

PubMed Link: 31145101

Variant Present in the following documents:

• Main text

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Sequencing as a first-line methodology for cystic fibrosis carrier screening.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Beauchamp, Kyle A KA; Johansen Taber, Katherine A KA; Grauman, Peter V PV; Spurka, Lindsay L; Lim-Harashima, Jeraldine J; Svenson, Ashley A; Goldberg, James D JD; Muzzey, Dale D

Publication Date: 2019-11

Variant appearance in text: CFTR: 1466C>A; S489*

PubMed Link: 31036917

Variant Present in the following documents:

• 41436_2019_525_MOESM3_ESM.xlsx, sheet 1

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Diet-Induced Dysbiosis and Genetic Background Synergize With Cystic Fibrosis Transmembrane Conductance Regulator Deficiency to Promote Cholangiopathy in Mice.

Hepatology Communications

Debray, Dominique D; El Mourabit, Haquima H; Merabtene, Fatiha F; Brot, Loïc L; Ulveling, Damien D; Chrétien, Yves Y; Rainteau, Dominique D; Moszer, Ivan I; Wendum, Dominique D; Sokol, Harry H; Housset, Chantal C

Publication Date: 2018-12

Variant appearance in text: CFTR: S489X

PubMed Link: 30556040

Variant Present in the following documents:

• Main text
• HEP4-2-1533.pdf

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Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients.

The Journal Of Molecular Diagnostics : Jmd

Kerschner, Jenny L JL; Ghosh, Sujana S; Paranjapye, Alekh A; Cosme, Wilmel R WR; Audrézet, Marie-Pierre MP; Nakakuki, Miyuki M; Ishiguro, Hiroshi H; Férec, Claude C; Rommens, Johanna J; Harris, Ann A

Publication Date: 2019-01

Variant appearance in text: CFTR: S489X

PubMed Link: 30296588

Variant Present in the following documents:

• Main text

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A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies.

Plos One

McHugh, Daniel R DR; Steele, Miarasa S MS; Valerio, Dana M DM; Miron, Alexander A; Mann, Rachel J RJ; LePage, David F DF; Conlon, Ronald A RA; Cotton, Calvin U CU; Drumm, Mitchell L ML; Hodges, Craig A CA

Publication Date: 2018

Variant appearance in text: CFTR: S489X

PubMed Link: 29924856

Variant Present in the following documents:

• Main text
• pone.0199573.pdf

View BVdb publication page

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Detection of Cystic Fibrosis Serological Biomarkers Using a T7 Phage Display Library.

Scientific Reports

Talwar, Harvinder H; Hanoudi, Samer Najeeb SN; Geamanu, Andreea A; Kissner, Dana D; Draghici, Sorin S; Samavati, Lobelia L

Publication Date: 2017-12-18

Variant appearance in text: CFTR: S489X

PubMed Link: 29255267

Variant Present in the following documents:

• Main text
• 41598_2017_Article_18041.pdf

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The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: CFTR: 1466C>A; Ser489Ter; rs397508211

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

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Strategies for the etiological therapy of cystic fibrosis.

Cell Death And Differentiation

Maiuri, Luigi L; Raia, Valeria V; Kroemer, Guido G

Publication Date: 2017-11

Variant appearance in text: N/A

PubMed Link: 28937684

Variant Present in the following documents:

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Animal models of biliary injury and altered bile acid metabolism.

Biochimica Et Biophysica Acta. Molecular Basis Of Disease

Mariotti, Valeria V; Strazzabosco, Mario M; Fabris, Luca L; Calvisi, Diego F DF

Publication Date: 2018-04

Variant appearance in text: N/A

PubMed Link: 28709963

Variant Present in the following documents:

View BVdb publication page

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Improved Growth Patterns in Cystic Fibrosis Mice after Loss of Histone Deacetylase 6.

Scientific Reports

Rymut, Sharon M SM; Corey, Deborah A DA; Valerio, Dana M DM; Erokwu, Bernadette O BO; Flask, Chris A CA; Kelley, Thomas J TJ; Hodges, Craig A CA

Publication Date: 2017-06-16

Variant appearance in text: CFTR: S489X

PubMed Link: 28623308

Variant Present in the following documents:

• Main text
• 41598_2017_Article_3931.pdf

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Growth deficits in cystic fibrosis mice begin in utero prior to IGF-1 reduction.

Plos One

Darrah, Rebecca R; Bederman, Ilya I; Vitko, Megan M; Valerio, Dana M DM; Drumm, Mitchell L ML; Hodges, Craig A CA

Publication Date: 2017

Variant appearance in text: CFTR: S489X

PubMed Link: 28384265

Variant Present in the following documents:

• pone.0175467.pdf

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The cystic fibrosis transmembrane conductance regulator controls biliary epithelial inflammation and permeability by regulating Src tyrosine kinase activity.

Hepatology (Baltimore, Md.)

Fiorotto, Romina R; Villani, Ambra A; Kourtidis, Antonis A; Scirpo, Roberto R; Amenduni, Mariangela M; Geibel, Peter J PJ; Cadamuro, Massimiliano M; Spirli, Carlo C; Anastasiadis, Panos Z PZ; Strazzabosco, Mario M

Publication Date: 2016-12

Variant appearance in text: N/A

PubMed Link: 27629435

Variant Present in the following documents:

View BVdb publication page

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CFTR Deletion in Mouse Testis Induces VDAC1 Mediated Inflammatory Pathway Critical for Spermatogenesis.

Plos One

Yan, Chen C; Lang, Qin Q; Huijuan, Liao L; Jiang, Xie X; Ming, Yang Y; Huaqin, Sun S; Wenming, Xu X

Publication Date: 2016

Variant appearance in text: CFTR: S489X

PubMed Link: 27483469

Variant Present in the following documents:

• Main text
• pone.0158994.pdf

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Animal Models of Cystic Fibrosis Pathology: Phenotypic Parallels and Divergences.

Biomed Research International

Lavelle, Gillian M GM; White, Michelle M MM; Browne, Niall N; McElvaney, Noel G NG; Reeves, Emer P EP

Publication Date: 2016

Variant appearance in text: CFTR: S489X

PubMed Link: 27340661

Variant Present in the following documents:

• Main text
• BMRI2016-5258727.pdf

View BVdb publication page

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Barriers to inhaled gene therapy of obstructive lung diseases: A review.

Journal Of Controlled Release : Official Journal Of The Controlled Release Society

Kim, Namho N; Duncan, Gregg A GA; Hanes, Justin J; Suk, Jung Soo JS

Publication Date: 2016-10-28

Variant appearance in text: CFTR: S489X

PubMed Link: 27196742

Variant Present in the following documents:

• Main text

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Ouabain Regulates CFTR-Mediated Anion Secretion and Na,K-ATPase Transport in ADPKD Cells.

The Journal Of Membrane Biology

Jansson, Kyle K; Venugopal, Jessica J; Sánchez, Gladis G; Magenheimer, Brenda S BS; Reif, Gail A GA; Wallace, Darren P DP; Calvet, James P JP; Blanco, Gustavo G

Publication Date: 2015-12

Variant appearance in text: CFTR: S489X

PubMed Link: 26289599

Variant Present in the following documents:

• Main text

View BVdb publication page

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The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

European Journal Of Human Genetics : Ejhg

Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M

Publication Date: 2016-04

Variant appearance in text: CFTR: 1466C>A; Ser489*

PubMed Link: 26014425

Variant Present in the following documents:

• Main text

View BVdb publication page

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Role of Exchange Protein Activated by cAMP 1 in Regulating Rates of Microtubule Formation in Cystic Fibrosis Epithelial Cells.

American Journal Of Respiratory Cell And Molecular Biology

Rymut, Sharon M SM; Ivy, Tracy T; Corey, Deborah A DA; Cotton, Calvin U CU; Burgess, James D JD; Kelley, Thomas J TJ

Publication Date: 2015-12

Variant appearance in text: CFTR: S489X

PubMed Link: 25955407

Variant Present in the following documents:

• Main text

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Mycobacterium abscessus morphotype comparison in a murine model.

Plos One

Caverly, Lindsay J LJ; Caceres, Silvia M SM; Fratelli, Cori C; Happoldt, Carrie C; Kidwell, Kelley M KM; Malcolm, Kenneth C KC; Nick, Jerry A JA; Nichols, David P DP

Publication Date: 2015

Variant appearance in text: CFTR: S489X

PubMed Link: 25675351

Variant Present in the following documents:

• Main text
• pone.0117657.pdf

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Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Baker, Mei W MW; Atkins, Anne E AE; Cordovado, Suzanne K SK; Hendrix, Miyono M; Earley, Marie C MC; Farrell, Philip M PM

Publication Date: 2016-03

Variant appearance in text: CFTR: 1466C>A; S489X

PubMed Link: 25674778

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetically engineered mucin mouse models for inflammation and cancer.

Cancer Metastasis Reviews

Joshi, Suhasini S; Kumar, Sushil S; Bafna, Sangeeta S; Rachagani, Satyanarayana S; Wagner, Kay-Uwe KU; Jain, Maneesh M; Batra, Surinder K SK

Publication Date: 2015-12

Variant appearance in text: N/A

PubMed Link: 25634251

Variant Present in the following documents:

View BVdb publication page

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Trehalose biosynthesis promotes Pseudomonas aeruginosa pathogenicity in plants.

Plos Pathogens

Djonović, Slavica S; Urbach, Jonathan M JM; Drenkard, Eliana E; Bush, Jenifer J; Feinbaum, Rhonda R; Ausubel, Jonathan L JL; Traficante, David D; Risech, Martina M; Kocks, Christine C; Fischbach, Michael A MA; Priebe, Gregory P GP; Ausubel, Frederick M FM

Publication Date: 2013-03

Variant appearance in text: CFTR: S489X

PubMed Link: 23505373

Variant Present in the following documents:

• Main text

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Ventilatory pattern and energy expenditure are altered in cystic fibrosis mice.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society

Darrah, Rebecca J RJ; Bederman, Ilya R IR; Mitchell, Anna L AL; Hodges, Craig A CA; Campanaro, Cara K CK; Drumm, Mitchell L ML; Jacono, Frank J FJ

Publication Date: 2013-07

Variant appearance in text: CFTR: S489X

PubMed Link: 23290341

Variant Present in the following documents:

• Main text

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Modelling co-infection of the cystic fibrosis lung by Pseudomonas aeruginosa and Burkholderia cenocepacia reveals influences on biofilm formation and host response.

Plos One

Bragonzi, Alessandra A; Farulla, Ilaria I; Paroni, Moira M; Twomey, Kate B KB; Pirone, Luisa L; Lorè, Nicola Ivan NI; Bianconi, Irene I; Dalmastri, Claudia C; Ryan, Robert P RP; Bevivino, Annamaria A

Publication Date: 2012

Variant appearance in text: CFTR: S489X

PubMed Link: 23284990

Variant Present in the following documents:

• Main text
• pone.0052330.pdf

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CFTR is the primary known apical glutathione transporter involved in cigarette smoke-induced adaptive responses in the lung.

Free Radical Biology & Medicine

Gould, Neal S NS; Min, Elysia E; Martin, Richard J RJ; Day, Brian J BJ

Publication Date: 2012-04-01

Variant appearance in text: N/A

PubMed Link: 22266045

Variant Present in the following documents:

View BVdb publication page

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Loss of CFTR affects biliary epithelium innate immunity and causes TLR4-NF-κB-mediated inflammatory response in mice.

Gastroenterology

Fiorotto, Romina R; Scirpo, Roberto R; Trauner, Michael M; Fabris, Luca L; Hoque, Rafaz R; Spirli, Carlo C; Strazzabosco, Mario M

Publication Date: 2011-10

Variant appearance in text: N/A

PubMed Link: 21712022

Variant Present in the following documents:

View BVdb publication page

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Defective CFTR-dependent CREB activation results in impaired spermatogenesis and azoospermia.

Plos One

Xu, Wen Ming WM; Chen, Jing J; Chen, Hui H; Diao, Rui Ying RY; Fok, Kin Lam KL; Dong, Jian Da JD; Sun, Ting Ting TT; Chen, Wen Ying WY; Yu, Mei Kuen MK; Zhang, Xiao Hu XH; Tsang, Lai Ling LL; Lau, Ann A; Shi, Qi Xian QX; Shi, Qing Hua QH; Huang, Ping Bo PB; Chan, Hsiao Chang HC

Publication Date: 2011

Variant appearance in text: CFTR: S489X

PubMed Link: 21625623

Variant Present in the following documents:

• Main text
• pone.0019120.pdf

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Estrogen aggravates inflammation in Pseudomonas aeruginosa pneumonia in cystic fibrosis mice.

Respiratory Research

Wang, Yufa Y; Cela, Elvis E; Gagnon, Stéphane S; Sweezey, Neil B NB

Publication Date: 2010-11-30

Variant appearance in text: CFTR: S489X

PubMed Link: 21118573

Variant Present in the following documents:

• Main text

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Hypertonic saline increases lung epithelial lining fluid glutathione and thiocyanate: two protective CFTR-dependent thiols against oxidative injury.

Respiratory Research

Gould, Neal S NS; Gauthier, Steve S; Kariya, Chirag T CT; Min, Elysia E; Huang, Jie J; Brian, Day J DJ

Publication Date: 2010-08-27

Variant appearance in text: CFTR: S489X

PubMed Link: 20799947

Variant Present in the following documents:

• Main text
• 1465-9921-11-119.pdf

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Lack of cystic fibrosis transmembrane conductance regulator in CD3+ lymphocytes leads to aberrant cytokine secretion and hyperinflammatory adaptive immune responses.

American Journal Of Respiratory Cell And Molecular Biology

Mueller, Christian C; Braag, Sofia A SA; Keeler, Allison A; Hodges, Craig C; Drumm, Mitchell M; Flotte, Terence R TR

Publication Date: 2011-06

Variant appearance in text: CFTR: S489X

PubMed Link: 20724552

Variant Present in the following documents:

• Main text

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Pharmacological correction of a defect in PPAR-gamma signaling ameliorates disease severity in Cftr-deficient mice.

Nature Medicine

Harmon, Gregory S GS; Dumlao, Darren S DS; Ng, Damian T DT; Barrett, Kim E KE; Dennis, Edward A EA; Dong, Hui H; Glass, Christopher K CK

Publication Date: 2010-03

Variant appearance in text: CFTR: S489X

PubMed Link: 20154695

Variant Present in the following documents:

• Main text

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Modulation of exaggerated-IgE allergic responses by gene transfer-mediated antagonism of IL-13 and IL-17e.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy

Mueller, Christian C; Keeler, Allison A; Braag, Sofia S; Menz, Timothy T; Tang, Qiushi Q; Flotte, Terence R TR

Publication Date: 2010-03

Variant appearance in text: CFTR: S489X

PubMed Link: 19935781

Variant Present in the following documents:

• Main text

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The triterpenoid CDDO limits inflammation in preclinical models of cystic fibrosis lung disease.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Nichols, David P DP; Ziady, Assem G AG; Shank, Samuel L SL; Eastman, Jean F JF; Davis, Pamela B PB

Publication Date: 2009-11

Variant appearance in text: CFTR: S489X

PubMed Link: 19700644

Variant Present in the following documents:

• Main text

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Genetics of susceptibility to infection with enteric pathogens.

Current Opinion In Infectious Diseases

Flores, Jose J; Okhuysen, Pablo C PC

Publication Date: 2009-10

Variant appearance in text: CFTR: S489X

PubMed Link: 19633551

Variant Present in the following documents:

• Main text

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Peroxiredoxin 6 fails to limit phospholipid peroxidation in lung from Cftr-knockout mice subjected to oxidative challenge.

Plos One

Trudel, Stéphanie S; Kelly, Mairead M; Fritsch, Janine J; Nguyen-Khoa, Thao T; Thérond, Patrice P; Couturier, Martine M; Dadlez, Michal M; Debski, Janusz J; Touqui, Lhousseine L; Vallée, Benoit B; Ollero, Mario M; Edelman, Aleksander A; Brouillard, Franck F

Publication Date: 2009-06-29

Variant appearance in text: CFTR: S489X

PubMed Link: 19562038

Variant Present in the following documents:

• Main text

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Defective acid sphingomyelinase pathway with Pseudomonas aeruginosa infection in cystic fibrosis.

American Journal Of Respiratory Cell And Molecular Biology

Yu, Hong H; Zeidan, Youssef H YH; Wu, Bill X BX; Jenkins, Russell W RW; Flotte, Terence R TR; Hannun, Yusuf A YA; Virella-Lowell, Isabel I

Publication Date: 2009-09

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PubMed Link: 19168701

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Murine model for cystic fibrosis bone disease demonstrates osteopenia and sex-related differences in bone formation.

Pediatric Research

Pashuck, Troy D TD; Franz, Sarah E SE; Altman, Molly K MK; Wasserfall, Clive H CH; Atkinson, Mark A MA; Wronski, Thomas J TJ; Flotte, Terence R TR; Stalvey, Michael S MS

Publication Date: 2009-03

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PubMed Link: 19047917

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cAMP-mediated regulation of cholesterol accumulation in cystic fibrosis and Niemann-Pick type C cells.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Manson, Mary E ME; Corey, Deborah A DA; White, Nicole M NM; Kelley, Thomas J TJ

Publication Date: 2008-11

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PubMed Link: 18790990

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Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

The Journal Of Molecular Diagnostics : Jmd

Audrezet, Marie-Pierre MP; Dabricot, Aurélia A; Le Marechal, Cédric C; Ferec, Claude C

Publication Date: 2008-09

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PubMed Link: 18687795

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Congenital tracheal malformation in cystic fibrosis transmembrane conductance regulator-deficient mice.

The Journal Of Physiology

Bonvin, Elise E; Le Rouzic, Philippe P; Bernaudin, Jean-François JF; Cottart, Charles-Henry CH; Vandebrouck, Clarisse C; Crié, Antoine A; Leal, Teresinha T; Clement, Annick A; Bonora, Monique M

Publication Date: 2008-07-01

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PubMed Link: 18450781

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Infertility in females with cystic fibrosis is multifactorial: evidence from mouse models.

Endocrinology

Hodges, Craig A CA; Palmert, Mark R MR; Drumm, Mitchell L ML

Publication Date: 2008-06

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PubMed Link: 18325992

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A role for CFTR in the elevation of glutathione levels in the lung by oral glutathione administration.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Kariya, Chirag C; Leitner, Heather H; Min, Elysia E; van Heeckeren, Christiaan C; van Heeckeren, Anna A; Day, Brian J BJ

Publication Date: 2007-06

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PubMed Link: 17369290

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Parthenolide inhibits IkappaB kinase, NF-kappaB activation, and inflammatory response in cystic fibrosis cells and mice.

American Journal Of Respiratory Cell And Molecular Biology

Saadane, Aicha A; Masters, Sophia S; DiDonato, Joseph J; Li, Jingfeng J; Berger, Melvin M

Publication Date: 2007-06

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PubMed Link: 17272824

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Mitochondrial oxidative stress in the lungs of cystic fibrosis transmembrane conductance regulator protein mutant mice.

American Journal Of Respiratory Cell And Molecular Biology

Velsor, Leonard W LW; Kariya, Chirag C; Kachadourian, Remy R; Day, Brian J BJ

Publication Date: 2006-11

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PubMed Link: 16763223

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The cystic fibrosis transmembrane conductance regulator (Cftr) modulates the timing of puberty in mice.

Journal Of Medical Genetics

Jin, R R; Hodges, C A CA; Drumm, M L ML; Palmert, M R MR

Publication Date: 2006-06

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PubMed Link: 16740913

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Caerulein-induced acute pancreatitis in mice that constitutively overexpress Reg/PAP genes.

Bmc Gastroenterology

Norkina, Oxana O; Graf, Rolf R; Appenzeller, Philippe P; De Lisle, Robert C RC

Publication Date: 2006-05-15

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PubMed Link: 16700916

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The "Goldilocks effect" in cystic fibrosis: identification of a lung phenotype in the cftr knockout and heterozygous mouse.

Bmc Genetics

Cohen, J Craig JC; Lundblad, Lennart K A LK; Bates, Jason H T JH; Levitzky, Michael M; Larson, Janet E JE

Publication Date: 2004-07-27

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PubMed Link: 15279681

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State of the art: why do the lungs of patients with cystic fibrosis become infected and why can't they clear the infection?

Respiratory Research

Chmiel, James F JF; Davis, Pamela B PB

Publication Date: 2003

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PubMed Link: 14511398

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• 1465-9921-4-8.pdf

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