Publications:

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Q1291H-CFTR molecular dynamics simulations and ex vivo theratyping in nasal epithelial models and clinical response to elexacaftor/tezacaftor/ivacaftor in a Q1291H/F508del patient.

Frontiers In Molecular Biosciences

Allan, Katelin M KM; Astore, Miro A MA; Kardia, Egi E; Wong, Sharon L SL; Fawcett, Laura K LK; Bell, Jessica L JL; Visser, Simone S; Chen, Po-Chia PC; Griffith, Renate R; Jaffe, Adam A; Sivam, Sheila S; Vittorio, Orazio O; Kuyucak, Serdar S; Waters, Shafagh A SA

Publication Date: 2023

Variant appearance in text: CFTR: E193k

PubMed Link: 37325471

Variant Present in the following documents:

• fmolb-10-1148501.pdf

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Validating organoid-derived human intestinal monolayers for personalized therapy in cystic fibrosis.

Life Science Alliance

Birimberg-Schwartz, Liron L; Ip, Wan W; Bartlett, Claire C; Avolio, Julie J; Vonk, Annelotte M AM; Gunawardena, Tarini T; Du, Kai K; Esmaeili, Mohsen M; Beekman, Jeffrey M JM; Rommens, Johanna J; Strug, Lisa L; Bear, Christine E CE; Moraes, Theo J TJ; Gonska, Tanja T

Publication Date: 2023-06

Variant appearance in text: CFTR: E193K

PubMed Link: 37024122

Variant Present in the following documents:

• LSA-2022-01857.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: 577G>A; Glu193Lys

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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Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.

Children (Basel, Switzerland)

Conti, Jessica J; Sorio, Claudio C; Melotti, Paola P

Publication Date: 2022-12-20

Variant appearance in text: CFTR: E193K

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.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: E193K

PubMed Link: 36631132

Variant Present in the following documents:

• Main text
• ERR-0154-2022.pdf

View BVdb publication page

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S945L-CFTR molecular dynamics, functional characterization and tezacaftor/ivacaftor efficacy in vivo and in vitro in matched pediatric patient-derived cell models.

Frontiers In Pediatrics

Allan, Katelin M KM; Astore, Miro A MA; Fawcett, Laura K LK; Wong, Sharon L SL; Chen, Po-Chia PC; Griffith, Renate R; Jaffe, Adam A; Kuyucak, Serdar S; Waters, Shafagh A SA

Publication Date: 2022

Variant appearance in text: CFTR: E193k

PubMed Link: 36467478

Variant Present in the following documents:

• fped-10-1062766.pdf

View BVdb publication page

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Advances in Preclinical In Vitro Models for the Translation of Precision Medicine for Cystic Fibrosis.

Journal Of Personalized Medicine

Silva, Iris A L IAL; Laselva, Onofrio O; Lopes-Pacheco, Miquéias M

Publication Date: 2022-08-16

Variant appearance in text: CFTR: E193K

PubMed Link: 36013270

Variant Present in the following documents:

• jpm-12-01321.pdf

View BVdb publication page

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A Cross-Sectional Study of the Marital Attitudes of Pregnant Women at Risk for Cystic Fibrosis and Psychological Impact of Prenatal Screening.

International Journal Of Environmental Research And Public Health

Popa, Zoran Laurentiu ZL; Margan, Madalin-Marius MM; Petre, Izabella I; Bernad, Elena E; Stelea, Lavinia L; Chiriac, Veronica Daniela VD; Craina, Marius M; Ciuca, Ioana Mihaela IM; Bina, Anca Mihaela AM

Publication Date: 2022-07-17

Variant appearance in text: CFTR: E193K

PubMed Link: 35886548

Variant Present in the following documents:

• ijerph-19-08698.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: E193K

PubMed Link: 35620188

Variant Present in the following documents:

• Main text
• 10.1177_20406223221098136.pdf

View BVdb publication page

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Author Correction: Spatial covariance analysis reveals the residue-by-residue thermodynamic contribution of variation to the CFTR fold.

Communications Biology

Anglès, Frédéric F; Wang, Chao C; Balch, William E WE

Publication Date: 2022-05-18

Variant appearance in text: CFTR: E193K

PubMed Link: 35585144

Variant Present in the following documents:

• 42003_2022_3457_MOESM1_ESM.pdf

View BVdb publication page

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Theratyping of the Rare CFTR Variants E193K and R334W in Rectal Organoid-Derived Epithelial Monolayers.

Journal Of Personalized Medicine

Ciciriello, Fabiana F; Bijvelds, Marcel J C MJC; Alghisi, Federico F; Meijsen, Kelly F KF; Cristiani, Luca L; Sorio, Claudio C; Melotti, Paola P; Fiocchi, Alessandro G AG; Lucidi, Vincenzina V; De Jonge, Hugo R HR

Publication Date: 2022-04-14

Variant appearance in text: CFTR: E193K

PubMed Link: 35455747

Variant Present in the following documents:

• Main text
• jpm-12-00632.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: E193K

PubMed Link: 35406809

Variant Present in the following documents:

• cells-11-01243.pdf

View BVdb publication page

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Response prediction and risk stratification of patients with rectal cancer after neoadjuvant therapy through an analysis of circulating tumour DNA.

Ebiomedicine

Liu, Wenyang W; Li, Yifei Y; Tang, Yuan Y; Song, Qianqian Q; Wang, Jingjing J; Li, Ning N; Chen, Silin S; Shi, Jinming J; Wang, Shulian S; Li, Yexiong Y; Jiao, Yuchen Y; Zeng, Yixin Y; Jin, Jing J

Publication Date: 2022-04

Variant appearance in text: CFTR: 577G>A

PubMed Link: 35306340

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Analysis of Clinical Manifestations, Imaging Features, and Gene Mutation Characteristics of 6 Children with Cystic Fibrosis in China.

Evidence-Based Complementary And Alternative Medicine : Ecam

Chu, Yajuan Y; Shuai, Jinfeng J; Huang, Kunling K; Liu, Jianhua J; Lv, Wenshan W; Li, Baochi B

Publication Date: 2021

Variant appearance in text: CFTR: 577G>A

PubMed Link: 34765005

Variant Present in the following documents:

• ECAM2021-7254391.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: rs397508759

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

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: E193K

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: rs397508759

PubMed Link: 34541464

Variant Present in the following documents:

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

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: E193K

PubMed Link: 34201249

Variant Present in the following documents:

• Main text
• ijms-22-06193.pdf

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: E193K

PubMed Link: 33922413

Variant Present in the following documents:

• Main text

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: 577G>A; rs397508759

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s003.xlsx, sheet 1

View BVdb publication page

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Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Signal Transduction And Targeted Therapy

Liu, Fatao F; Li, Yongsheng Y; Ying, Dongjian D; Qiu, Shimei S; He, Yong Y; Li, Maolan M; Liu, Yun Y; Zhang, Yijian Y; Zhu, Qin Q; Hu, Yunping Y; Liu, Liguo L; Li, Guoqiang G; Pan, Weihua W; Jin, Wei W; Mu, Jiasheng J; Cao, Yang Y; Liu, Yingbin Y

Publication Date: 2021-02-10

Variant appearance in text: CFTR: Glu193Lys

PubMed Link: 33563892

Variant Present in the following documents:

• 41392_2020_412_MOESM7_ESM.xlsx, sheet 1
• 41392_2020_412_MOESM17_ESM.xlsx, sheet 1

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: E193K

PubMed Link: 33282281

Variant Present in the following documents:

• Main text
• mrm-15-1-690.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: CFTR: 577G>A; E193K

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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: E193K

PubMed Link: 32934006

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Transcriptomic and Proteostasis Networks of CFTR and the Development of Small Molecule Modulators for the Treatment of Cystic Fibrosis Lung Disease.

Genes

Strub, Matthew D MD; McCray, Paul B PB

Publication Date: 2020-05-13

Variant appearance in text: CFTR: E193K

PubMed Link: 32414011

Variant Present in the following documents:

• Main text
• genes-11-00546.pdf

View BVdb publication page

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CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine.

Frontiers In Pharmacology

Lopes-Pacheco, Miquéias M

Publication Date: 2019

Variant appearance in text: CFTR: E193K

PubMed Link: 32153386

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cost of precision medicine at a referral center for cystic fibrosis.

Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia

Marson, Fernando Augusto Lima FAL

Publication Date: 2020-03-02

Variant appearance in text: CFTR: E193K

PubMed Link: 32130336

Variant Present in the following documents:

• Main text
• 1806-3713-jbpneu-46-02-e20190308.pdf

View BVdb publication page

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Essential oils against bacterial isolates from cystic fibrosis patients by means of antimicrobial and unsupervised machine learning approaches.

Scientific Reports

Ragno, Rino R; Papa, Rosanna R; Patsilinakos, Alexandros A; Vrenna, Gianluca G; Garzoli, Stefania S; Tuccio, Vanessa V; Fiscarelli, ErsiliaVita E; Selan, Laura L; Artini, Marco M

Publication Date: 2020-02-14

Variant appearance in text: CFTR: E193K

PubMed Link: 32060344

Variant Present in the following documents:

• Main text

View BVdb publication page

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Nanomolar-potency 'co-potentiator' therapy for cystic fibrosis caused by a defined subset of minimal function CFTR mutants.

Scientific Reports

Phuan, Puay-Wah PW; Tan, Joseph-Anthony JA; Rivera, Amber A AA; Zlock, Lorna L; Nielson, Dennis W DW; Finkbeiner, Walter E WE; Haggie, Peter M PM; Verkman, Alan S AS

Publication Date: 2019-11-27

Variant appearance in text: CFTR: E193K

PubMed Link: 31776420

Variant Present in the following documents:

• Main text
• 41598_2019_Article_54158.pdf

View BVdb publication page

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Cystic fibrosis precision therapeutics: Emerging considerations.

Pediatric Pulmonology

Joshi, Disha D; Ehrhardt, Annette A; Hong, Jeong S JS; Sorscher, Eric J EJ

Publication Date: 2019-11

Variant appearance in text: CFTR: E193K

PubMed Link: 31715091

Variant Present in the following documents:

• Main text

View BVdb publication page

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VX-770-mediated potentiation of numerous human CFTR disease mutants is influenced by phosphorylation level.

Scientific Reports

Cui, Guiying G; Stauffer, Brandon B BB; Imhoff, Barry R BR; Rab, Andras A; Hong, Jeong S JS; Sorscher, Eric J EJ; McCarty, Nael A NA

Publication Date: 2019-09-17

Variant appearance in text: CFTR: E193K

PubMed Link: 31530897

Variant Present in the following documents:

• Main text
• 41598_2019_49921_MOESM1_ESM.pdf
• 41598_2019_Article_49921.pdf

View BVdb publication page

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The combination of tezacaftor and ivacaftor in the treatment of patients with cystic fibrosis: clinical evidence and future prospects in cystic fibrosis therapy.

Therapeutic Advances In Respiratory Disease

Lommatzsch, Sherstin T ST; Taylor-Cousar, Jennifer L JL

Publication Date: 2019

Variant appearance in text: CFTR: E193K

PubMed Link: 31027466

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.

Scientific Reports

Pereira, Stéphanie Villa-Nova SV; Ribeiro, José Dirceu JD; Ribeiro, Antônio Fernando AF; Bertuzzo, Carmen Sílvia CS; Marson, Fernando Augusto Lima FAL

Publication Date: 2019-04-17

Variant appearance in text: CFTR: E193K

PubMed Link: 30996306

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42404.pdf

View BVdb publication page

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Emerging Therapeutic Approaches for Cystic Fibrosis. From Gene Editing to Personalized Medicine.

Frontiers In Pharmacology

Pranke, Iwona I; Golec, Anita A; Hinzpeter, Alexandre A; Edelman, Aleksander A; Sermet-Gaudelus, Isabelle I

Publication Date: 2019

Variant appearance in text: CFTR: E193K

PubMed Link: 30873022

Variant Present in the following documents:

• Main text
• fphar-10-00121.pdf

View BVdb publication page

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ATP-Binding Cassette Transporters in the Clinical Implementation of Pharmacogenetics.

Journal Of Personalized Medicine

López-Fernández, Luis A LA

Publication Date: 2018-12-05

Variant appearance in text: CFTR: Glu193Lys; rs397508759

PubMed Link: 30563187

Variant Present in the following documents:

• Main text
• jpm-08-00040.pdf

View BVdb publication page

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Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.

Molecular Medicine (Cambridge, Mass.)

Sofia, Valentina Maria VM; Surace, Cecilia C; Terlizzi, Vito V; Da Sacco, Letizia L; Alghisi, Federico F; Angiolillo, Antonella A; Braggion, Cesare C; Cirilli, Natalia N; Colombo, Carla C; Di Lullo, Antonella A; Padoan, Rita R; Quattrucci, Serena S; Raia, Valeria V; Tuccio, Giuseppe G; Zarrilli, Federica F; Tomaiuolo, Anna Cristina AC; Novelli, Antonio A; Lucidi, Vincenzina V; Lucarelli, Marco M; Castaldo, Giuseppe G; Angioni, Adriano A

Publication Date: 2018-07-27

Variant appearance in text: CFTR: E193K

PubMed Link: 30134826

Variant Present in the following documents:

• Main text
• 10020_2018_Article_41.pdf

View BVdb publication page

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Pharmacogenetic testing in the Veterans Health Administration (VHA): policy recommendations from the VHA Clinical Pharmacogenetics Subcommittee.

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

Vassy, Jason L JL; Stone, Annjanette A; Callaghan, John T JT; Mendes, Margaret M; Meyer, Laurence J LJ; Pratt, Victoria M VM; Przygodzki, Ronald M RM; Scheuner, Maren T MT; Wang-Rodriguez, Jessica J; Schichman, Steven A SA; ,

Publication Date: 2019-02

Variant appearance in text: CFTR: E193K

PubMed Link: 29858578

Variant Present in the following documents:

• NIHMS965181-supplement-Sup_file.xlsx, sheet 10

View BVdb publication page

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Cystic Fibrosis: Translating Molecular Mechanisms into Effective Therapies.

Annals Of The American Thoracic Society

Jennings, Mark T MT; Flume, Patrick A PA

Publication Date: 2018-08

Variant appearance in text: CFTR: E193K

PubMed Link: 29812963

Variant Present in the following documents:

• Main text

View BVdb publication page

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From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations.

Molecular Biology Of The Cell

Veit, Gudio G; Avramescu, Radu G RG; Chiang, Annette N AN; Houck, Scott A SA; Cai, Zhiwei Z; Peters, Kathryn W KW; Hong, Jeong S JS; Pollard, Harvey B HB; Guggino, William B WB; Balch, William E WE; Skach, William R WR; Cutting, Garry R GR; Frizzell, Raymond A RA; Sheppard, David N DN; Cyr, Douglas M DM; Sorscher, Eric J EJ; Brodsky, Jeffrey L JL; Lukacs, Gergely L GL

Publication Date: 2016-02-01

Variant appearance in text: CFTR: E193K

PubMed Link: 26823392

Variant Present in the following documents:

• Main text
• 424.pdf

View BVdb publication page

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Murine and human CFTR exhibit different sensitivities to CFTR potentiators.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Cui, Guiying G; McCarty, Nael A NA

Publication Date: 2015-10-01

Variant appearance in text: CFTR: E193K

PubMed Link: 26209275

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CFTR: E193K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.

Molecular Medicine (Cambridge, Mass.)

Lucarelli, Marco M; Bruno, Sabina Maria SM; Pierandrei, Silvia S; Ferraguti, Giampiero G; Stamato, Antonella A; Narzi, Fabiana F; Amato, Annalisa A; Cimino, Giuseppe G; Bertasi, Serenella S; Quattrucci, Serena S; Strom, Roberto R

Publication Date: 2015-04-21

Variant appearance in text: CFTR: 577G>A; Glu193Lys

PubMed Link: 25910067

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effect of genistein on basal jejunal chloride secretion in R117H CF mice is sex and route specific.

Clinical And Experimental Gastroenterology

Rayyan, Esa E; Polito, Sarah S; Leung, Lana L; Bhakta, Ashesh A; Kang, Jonathan J; Willey, Justin J; Mansour, Wasim W; Drumm, Mitchell L ML; Al-Nakkash, Layla L

Publication Date: 2015

Variant appearance in text: CFTR: E193K

PubMed Link: 25674010

Variant Present in the following documents:

• Main text
• ceg-8-077.pdf

View BVdb publication page

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Stimulation of murine intestinal secretion by daily genistein injections: gender-dependent differences.

Cellular Physiology And Biochemistry : International Journal Of Experimental Cellular Physiology, Biochemistry, And Pharmacology

Al-Nakkash, Layla L; Batia, Lyn L; Bhakta, Minoti M; Peterson, Amity A; Hale, Nathan N; Skinner, Ryan R; Sears, Steven S; Jensen, Jesse J

Publication Date: 2011

Variant appearance in text: CFTR: E193K

PubMed Link: 21865731

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation-specific potency and efficacy of cystic fibrosis transmembrane conductance regulator chloride channel potentiators.

The Journal Of Pharmacology And Experimental Therapeutics

Caputo, Antonella A; Hinzpeter, Alexandre A; Caci, Emanuela E; Pedemonte, Nicoletta N; Arous, Nicole N; Di Duca, Marco M; Zegarra-Moran, Olga O; Fanen, Pascale P; Galietta, Luis J V LJ

Publication Date: 2009-09

Variant appearance in text: CFTR: E193K

PubMed Link: 19491324

Variant Present in the following documents:

• Main text

View BVdb publication page

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Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.

Nature

Choi, J Y JY; Muallem, D D; Kiselyov, K K; Lee, M G MG; Thomas, P J PJ; Muallem, S S

Publication Date: 2001-03-01

Variant appearance in text: CFTR: E193K

PubMed Link: 11242048

Variant Present in the following documents:

• Main text

View BVdb publication page

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