Publications:

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Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related Disorders.

Medrxiv : The Preprint Server For Health Sciences

Lee, Evan M EM; Verma, Megha M; Palaniappan, Nila N; Pope, Emiko M EM; Lee, Sammie S; Blacher, Lindsey L; Neerumalla, Pooja P; An, William W; Campbell, Toko T; Brown, Cris C; Hurst, Stacy S; Marshall, Bess B; Hershey, Tamara T; Nunes, Virginia V; de Heredia, Miguel López ML; Urano, Fumihiko F

Publication Date: 2023-02-16

Variant appearance in text: CFTR: A455E

PubMed Link: 36824811

Variant Present in the following documents:

• nihpp-2023.02.15.23284904v1.pdf

View BVdb publication page

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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: 1364C>A; Ala455Glu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Effects of CFTR modulators on serum biomarkers of liver fibrosis in children with cystic fibrosis.

Hepatology Communications

Levitte, Steven S; Fuchs, Yonathan Y; Wise, Russell R; Sellers, Zachary M ZM

Publication Date: 2023-01-20

Variant appearance in text: CFTR: A455E

PubMed Link: 36662672

Variant Present in the following documents:

• hc9-7-e0010.pdf

View BVdb publication page

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Role of inhaled antibiotics in the era of highly effective CFTR modulators.

European Respiratory Review : An Official Journal Of The European Respiratory Society

Elborn, J Stuart JS; Blasi, Francesco F; Burgel, Pierre-Régis PR; Peckham, Daniel D

Publication Date: 2023-03-31

Variant appearance in text: CFTR: A455E

PubMed Link: 36631132

Variant Present in the following documents:

• Main text
• ERR-0154-2022.pdf

View BVdb publication page

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Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience.

Diagnostics (Basel, Switzerland)

Auzenbaha, Madara M; Aleksejeva, Elina E; Taurina, Gita G; Kornejeva, Liene L; Kempa, Inga I; Svabe, Vija V; Gailite, Linda L

Publication Date: 2022-11-21

Variant appearance in text: CFTR: 1364C>A; A455E

PubMed Link: 36428953

Variant Present in the following documents:

• diagnostics-12-02893.pdf

View BVdb publication page

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Drug treatment of cystic fibrosis.

Australian Prescriber

Bruorton, Matthew M; Goddard, Thomas T

Publication Date: 2022-10

Variant appearance in text: CFTR: A455E

PubMed Link: 36382177

Variant Present in the following documents:

• Main text

View BVdb publication page

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Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia.

Clinical Genetics

van de Kamp, Jiddeke M JM; Bökenkamp, Arend A; Smith, Desiree E C DEC; Wamelink, Mirjam M C MMC; Jansen, Erwin E W EEW; Struys, Eduard A EA; Waisfisz, Quinten Q; Verkleij, Marieke M; Hartmann, Michaela F MF; Wang, Rong R; Wudy, Stefan A SA; Paganini, Chiara C; Rossi, Antonio A; Finken, Martijn J J MJJ

Publication Date: 2022-09-29

Variant appearance in text: CFTR: 1364C>A; Ala455Glu

PubMed Link: 36175384

Variant Present in the following documents:

• Main text
• CGE-103-45.pdf

View BVdb publication page

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Pharmacological Responses of the G542X-CFTR to CFTR Modulators.

Frontiers In Molecular Biosciences

Fang, Xinxiu X; Yeh, Jiunn-Tyng JT; Hwang, Tzyh-Chang TC

Publication Date: 2022

Variant appearance in text: CFTR: A455E

PubMed Link: 35813815

Variant Present in the following documents:

• Main text
• fmolb-09-921680.pdf

View BVdb publication page

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CFTR and Gastrointestinal Cancers: An Update.

Journal Of Personalized Medicine

Bhattacharya, Rahul R; Blankenheim, Zachary Z; Scott, Patricia M PM; Cormier, Robert T RT

Publication Date: 2022-05-25

Variant appearance in text: CFTR: A455E

PubMed Link: 35743652

Variant Present in the following documents:

• Main text
• jpm-12-00868.pdf

View BVdb publication page

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CFTR Modulators in People with Cystic Fibrosis: Real-World Evidence in France.

Cells

Regard, Lucile L; Martin, Clémence C; Burnet, Espérie E; Da Silva, Jennifer J; Burgel, Pierre-Régis PR

Publication Date: 2022-05-28

Variant appearance in text: CFTR: A455E

PubMed Link: 35681464

Variant Present in the following documents:

• cells-11-01769.pdf

View BVdb publication page

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New drugs in cystic fibrosis: what has changed in the last decade?

Therapeutic Advances In Chronic Disease

Roda, Juliana J; Pinto-Silva, Catarina C; Silva, Iris A I IAI; Maia, Carla C; Almeida, Susana S; Ferreira, Ricardo R; Oliveira, Guiomar G

Publication Date: 2022

Variant appearance in text: CFTR: A455E

PubMed Link: 35620188

Variant Present in the following documents:

• Main text
• 10.1177_20406223221098136.pdf

View BVdb publication page

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CFTR Modulator Therapies: Potential Impact on Airway Infections in Cystic Fibrosis.

Cells

Saluzzo, Francesca F; Riberi, Luca L; Messore, Barbara B; Loré, Nicola Ivan NI; Esposito, Irene I; Bignamini, Elisabetta E; De Rose, Virginia V

Publication Date: 2022-04-06

Variant appearance in text: CFTR: A455E

PubMed Link: 35406809

Variant Present in the following documents:

• cells-11-01243.pdf

View BVdb publication page

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Pathophysiology of Lung Disease and Wound Repair in Cystic Fibrosis.

Pathophysiology : The Official Journal Of The International Society For Pathophysiology

Conese, Massimo M; Di Gioia, Sante S

Publication Date: 2021-03-10

Variant appearance in text: CFTR: A455E

PubMed Link: 35366275

Variant Present in the following documents:

• pathophysiology-28-00011.pdf

View BVdb publication page

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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: 1364C>A; A455E

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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A year in review: Real world evidence, functional monitoring and emerging therapeutics in 2021.

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

Barr, H L HL; Bihouee, T T; Zwitserloot, A M AM

Publication Date: 2022-03

Variant appearance in text: CFTR: A455E

PubMed Link: 35272931

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Benefits of reviewing pancreatic function in children with cystic fibrosis.

Pediatric Pulmonology

Marpole, Rachael R; Wilson, Andrew C AC

Publication Date: 2022-06

Variant appearance in text: CFTR: Ala455Glu

PubMed Link: 35258175

Variant Present in the following documents:

• Main text
• PPUL-57-1537.pdf

View BVdb publication page

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A small molecule high throughput screening platform to profile conformational properties of nascent, ribosome-bound proteins.

Scientific Reports

Shishido, Hideki H; Yoon, Jae Seok JS; Skach, William R WR

Publication Date: 2022-02-15

Variant appearance in text: CFTR: A455E

PubMed Link: 35169219

Variant Present in the following documents:

• Main text
• 41598_2022_Article_6456.pdf
• 41598_2022_6456_MOESM1_ESM.pdf

View BVdb publication page

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A small molecule high throughput screening platform to profile conformational properties of nascent, ribosome-bound proteins.

Scientific Reports

Shishido, Hideki H; Yoon, Jae Seok JS; Skach, William R WR

Publication Date: 2022-02-15

Variant appearance in text: CFTR: A455E

PubMed Link: 35169219

Variant Present in the following documents:

• Main text
• 41598_2022_Article_6456.pdf
• 41598_2022_6456_MOESM1_ESM.pdf

View BVdb publication page

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Progress in precision medicine in cystic fibrosis: a focus on CFTR modulator therapy.

Breathe (Sheffield, England)

Tewkesbury, Daniel H DH; Robey, Rebecca C RC; Barry, Peter J PJ

Publication Date: 2021-12

Variant appearance in text: CFTR: A455E

PubMed Link: 35035569

Variant Present in the following documents:

• Main text
• EDU-0112-2021.pdf

View BVdb publication page

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Prediction of Real-World Long-Term Outcomes of People with CF Homozygous for the F508del Mutation Treated with CFTR Modulators.

Journal Of Personalized Medicine

Muilwijk, Danya D; Bierlaagh, Marlou M; van Mourik, Peter P; Kraaijkamp, Jasmijn J; van der Meer, Renske R; van den Bor, Rutger R; Heijerman, Harry H; Eijkemans, René R; Beekman, Jeffrey J; van der Ent, Kors K

Publication Date: 2021-12-16

Variant appearance in text: CFTR: A455E

PubMed Link: 34945848

Variant Present in the following documents:

• Main text
• jpm-11-01376.pdf

View BVdb publication page

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A Comparative Analysis of Pricing and Reimbursement of Cystic Fibrosis Transmembrane Conductance Regulator Modulators in Europe.

Frontiers In Pharmacology

Abdallah, Khadidja K; De Boeck, Kris K; Dooms, Marc M; Simoens, Steven S

Publication Date: 2021

Variant appearance in text: CFTR: A455E

PubMed Link: 34858177

Variant Present in the following documents:

• Main text
• fphar-12-746710.pdf

View BVdb publication page

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Cystic Fibrosis Transmembrane Conductance Regulator Folding Mutations Reveal Differences in Corrector Efficacy Linked to Increases in Immature Cystic Fibrosis Transmembrane Conductance Regulator Expression.

Frontiers In Physiology

Peters, Kathryn W KW; Gong, Xiaoyan X; Frizzell, Raymond A RA

Publication Date: 2021

Variant appearance in text: CFTR: A455E

PubMed Link: 34764878

Variant Present in the following documents:

• Main text
• Table_1.pdf
• fphys-12-695767.pdf

View BVdb publication page

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State of the Art on Approved Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators and Triple-Combination Therapy.

Pharmaceuticals (Basel, Switzerland)

Meoli, Aniello A; Fainardi, Valentina V; Deolmi, Michela M; Chiopris, Giulia G; Marinelli, Francesca F; Caminiti, Caterina C; Esposito, Susanna S; Pisi, Giovanna G

Publication Date: 2021-09-15

Variant appearance in text: CFTR: A455E

PubMed Link: 34577628

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00928.pdf

View BVdb publication page

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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: rs74551128

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: CFTR: A455E

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM5_ESM.xlsx, sheet 1
• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Cystic Fibrosis Human Organs-on-a-Chip.

Micromachines

Ogden, Herbert Luke HL; Kim, Hoyeol H; Wikenheiser-Brokamp, Kathryn A KA; Naren, Anjaparavanda P AP; Mun, Kyu Shik KS

Publication Date: 2021-06-25

Variant appearance in text: CFTR: A455E

PubMed Link: 34202364

Variant Present in the following documents:

• Main text
• micromachines-12-00747.pdf

View BVdb publication page

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New Therapies to Correct the Cystic Fibrosis Basic Defect.

International Journal Of Molecular Sciences

Bergeron, Christelle C; Cantin, André M AM

Publication Date: 2021-06-08

Variant appearance in text: CFTR: A455E

PubMed Link: 34201249

Variant Present in the following documents:

• Main text

View BVdb publication page

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Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.

Human Mutation

Nykamp, Keith K; Truty, Rebecca R; Riethmaier, Darlene D; Wilkinson, Julia J; Bristow, Sara L SL; Aguilar, Sienna S; Neitzel, Dana D; Faulkner, Nicole N; Aradhya, Swaroop S

Publication Date: 2021-09

Variant appearance in text: CFTR: 1364C>A; Ala455Glu

PubMed Link: 34196078

Variant Present in the following documents:

• HUMU-42-1165-s002.xlsx, sheet 1

View BVdb publication page

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Tensin 1 (TNS1) is a modifier gene for low body mass index (BMI) in homozygous [F508del]CFTR patients.

Physiological Reports

Walton, Nathan I NI; Zhang, Xijun X; Soltis, Anthony R AR; Starr, Joshua J; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Conrad, Douglas D; Pollard, Harvey B HB

Publication Date: 2021-06

Variant appearance in text: CFTR: A455E

PubMed Link: 34086412

Variant Present in the following documents:

• PHY2-9-e14886-s002.pdf

View BVdb publication page

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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: 1364C>A; Ala455Glu; rs74551128

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Potential of Intestinal Current Measurement for Personalized Treatment of Patients with Cystic Fibrosis.

Journal Of Personalized Medicine

Graeber, Simon Y SY; Vitzthum, Constanze C; Mall, Marcus A MA

Publication Date: 2021-05-08

Variant appearance in text: CFTR: A455E

PubMed Link: 34066648

Variant Present in the following documents:

• jpm-11-00384.pdf

View BVdb publication page

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Cystic Fibrosis Lung Disease Modifiers and Their Relevance in the New Era of Precision Medicine.

Genes

Sepahzad, Afsoon A; Morris-Rosendahl, Deborah J DJ; Davies, Jane C JC

Publication Date: 2021-04-13

Variant appearance in text: CFTR: A455E

PubMed Link: 33924524

Variant Present in the following documents:

• Main text

View BVdb publication page

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Treatment of Pulmonary Disease of Cystic Fibrosis: A Comprehensive Review.

Antibiotics (Basel, Switzerland)

Girón Moreno, Rosa María RM; García-Clemente, Marta M; Diab-Cáceres, Layla L; Martínez-Vergara, Adrián A; Martínez-García, Miguel Ángel MÁ; Gómez-Punter, Rosa Mar RM

Publication Date: 2021-04-23

Variant appearance in text: CFTR: A455E

PubMed Link: 33922413

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.

Journal Of Medical Genetics

Bchetnia, Mbarka M; Bouchard, Luigi L; Mathieu, Jean J; Campeau, Philippe M PM; Morin, Charles C; Brisson, Diane D; Laberge, Anne-Marie AM; Vézina, Hélène H; Gaudet, Daniel D; Laprise, Catherine C

Publication Date: 2021-10

Variant appearance in text: CFTR: 1364C>A

PubMed Link: 33910931

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics of CFTR and male infertility.

Translational Andrology And Urology

Bieniek, Jared M JM; Lapin, Craig D CD; Jarvi, Keith A KA

Publication Date: 2021-03

Variant appearance in text: CFTR: A455E

PubMed Link: 33850775

Variant Present in the following documents:

• Main text
• tau-10-03-1391.pdf

View BVdb publication page

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Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics

Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY

Publication Date: 2021-02

Variant appearance in text: CFTR: 1364C>A; rs74551128

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s003.xlsx, sheet 1

View BVdb publication page

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Cystic fibrosis-related diabetes onset can be predicted using biomarkers measured at birth.

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

Lin, Yu-Chung YC; Keenan, Katherine K; Gong, Jiafen J; Panjwani, Naim N; Avolio, Julie J; Lin, Fan F; Adam, Damien D; Barrett, Paula P; Bégin, Stéphanie S; Berthiaume, Yves Y; Bilodeau, Lara L; Bjornson, Candice C; Brusky, Janna J; Burgess, Caroline C; Chilvers, Mark M; Consunji-Araneta, Raquel R; Côté-Maurais, Guillaume G; Dale, Andrea A; Donnelly, Christine C; Fairservice, Lori L; Griffin, Katie K; Henderson, Natalie N; Hillaby, Angela A; Hughes, Daniel D; Iqbal, Shaikh S; Itterman, Jennifer J; Jackson, Mary M; Karlsen, Emma E; Kosteniuk, Lorna L; Lazosky, Lynda L; Leung, Winnie W; Levesque, Valerie V; Maille, Émilie É; Mateos-Corral, Dimas D; McMahon, Vanessa V; Merjaneh, Mays M; Morrison, Nancy N; Parkins, Michael M; Pike, Jennifer J; Price, April A; Quon, Bradley S BS; Reisman, Joe J; Smith, Clare C; Smith, Mary Jane MJ; Vadeboncoeur, Nathalie N; Veniott, Danny D; Viczko, Terry T; Wilcox, Pearce P; van Wylick, Richard R; Cutting, Garry G; Tullis, Elizabeth E; Ratjen, Felix F; Rommens, Johanna M JM; Sun, Lei L; Solomon, Melinda M; Stephenson, Anne L AL; Brochiero, Emmanuelle E; Blackman, Scott S; Corvol, Harriet H; Strug, Lisa J LJ

Publication Date: 2021-05

Variant appearance in text: CFTR: A455E

PubMed Link: 33500570

Variant Present in the following documents:

• Main text
• 41436_2020_Article_1073.pdf

View BVdb publication page

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The Multifaceted Roles of MicroRNAs in Cystic Fibrosis.

Diagnostics (Basel, Switzerland)

De Palma, Fatima Domenica Elisa FDE; Raia, Valeria V; Kroemer, Guido G; Maiuri, Maria Chiara MC

Publication Date: 2020-12-17

Variant appearance in text: CFTR: A455E

PubMed Link: 33348555

Variant Present in the following documents:

• Main text

View BVdb publication page

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Corrector therapies (with or without potentiators) for people with cystic fibrosis with class II CFTR gene variants (most commonly F508del).

The Cochrane Database Of Systematic Reviews

Southern, Kevin W KW; Murphy, Jared J; Sinha, Ian P IP; Nevitt, Sarah J SJ

Publication Date: 2020-12-17

Variant appearance in text: CFTR: A455E

PubMed Link: 33331662

Variant Present in the following documents:

• Main text

View BVdb publication page

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The era of CFTR modulators: improvements made and remaining challenges.

Breathe (Sheffield, England)

Cuevas-Ocaña, Sara S; Laselva, Onofrio O; Avolio, Julie J; Nenna, Raffaella R

Publication Date: 2020-06

Variant appearance in text: CFTR: A455E

PubMed Link: 33304402

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel therapeutic approaches for the management of cystic fibrosis.

Multidisciplinary Respiratory Medicine

Jaques, Ryan R; Shakeel, Arslan A; Hoyle, Cameron C

Publication Date: 2020-01-28

Variant appearance in text: CFTR: A455E

PubMed Link: 33282281

Variant Present in the following documents:

• Main text
• mrm-15-1-690.pdf

View BVdb publication page

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Prevalence of CBAVD in azoospermic men carrying pathogenic CFTR mutations - Evaluated in a cohort of 639 non-vasectomized azoospermic men.

Andrology

Fedder, Jens J; Jørgensen, Mette W MW; Engvad, Birte B

Publication Date: 2021-03

Variant appearance in text: CFTR: A455E

PubMed Link: 33095972

Variant Present in the following documents:

• Main text
• ANDR-9-588.pdf

View BVdb publication page

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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: A455E

PubMed Link: 33073036

Variant Present in the following documents:

• IJNS-06-00046-s001.xlsx, sheet 1

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: CFTR: A455E

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Fluorescence assay for simultaneous quantification of CFTR ion-channel function and plasma membrane proximity.

The Journal Of Biological Chemistry

Prins, Stella S; Langron, Emily E; Hastings, Cato C; Hill, Emily J EJ; Stefan, Andra C AC; Griffin, Lewis D LD; Vergani, Paola P

Publication Date: 2020-12-04

Variant appearance in text: CFTR: A455E

PubMed Link: 32934006

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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The classification of ATP-binding cassette subfamily A member 3 mutations using the cystic fibrosis transmembrane conductance regulator classification system.

Pediatric Investigation

Denman, Laura L; Yonker, Lael M LM; Kinane, Thomas Bernard TB

Publication Date: 2018-03

Variant appearance in text: CFTR: A455E

PubMed Link: 32851225

Variant Present in the following documents:

• Main text

View BVdb publication page

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CFTR trafficking mutations disrupt cotranslational protein folding by targeting biosynthetic intermediates.

Nature Communications

Shishido, Hideki H; Yoon, Jae Seok JS; Yang, Zhongying Z; Skach, William R WR

Publication Date: 2020-08-26

Variant appearance in text: CFTR: A455E

PubMed Link: 32848127

Variant Present in the following documents:

• Main text

View BVdb publication page

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The impact of ivacaftor on sinonasal pathology in S1251N-mediated cystic fibrosis patients.

Plos One

Gostelie, Romee R; Stegeman, Inge I; Berkers, Gitte G; Bittermann, Joost J; Ligtenberg-van der Drift, Ivonne I; Kipshagen, Peter-Jan van PV; de Winter-de Groot, Karin K; Speleman, Lucienne L

Publication Date: 2020

Variant appearance in text: CFTR: A455E

PubMed Link: 32687499

Variant Present in the following documents:

• Main text

View BVdb publication page

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