Publications:

---

Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor-Ivacaftor.

Frontiers In Pharmacology

Tümmler, Burkhard B

Publication Date: 2023

Variant appearance in text: CFTR: Arg74Trp

PubMed Link: 37025483

Variant Present in the following documents:

• Main text
• fphar-14-1158207.pdf

View BVdb publication page

---

CFTR Modulators Rescue the Activity of CFTR in Colonoids Expressing the Complex Allele p.[R74W;V201M;D1270N]/dele22_24.

International Journal Of Molecular Sciences

Kleinfelder, Karina K; Somenza, Elena E; Farinazzo, Alessia A; Conti, Jessica J; Lotti, Virginia V; Latorre, Roberta Valeria RV; Rodella, Luca L; Massella, Arianna A; Tomba, Francesco F; Bertini, Marina M; Sorio, Claudio C; Melotti, Paola P

Publication Date: 2023-03-08

Variant appearance in text: CFTR: R74W

PubMed Link: 36982273

Variant Present in the following documents:

• Main text
• ijms-24-05199.pdf

View BVdb publication page

---

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: 220C>T; Arg74Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.

Molecular Medicine (Cambridge, Mass.)

Tavano, Francesca F; Gioffreda, Domenica D; Fontana, Andrea A; Palmieri, Orazio O; Gentile, Annamaria A; Latiano, Tiziana T; Latiano, Anna A; Latiano, Tiziana Pia TP; Scaramuzzi, Matteo M; Maiello, Evaristo E; Bazzocchi, Francesca F; Perri, Francesco F

Publication Date: 2023-01-30

Variant appearance in text: CFTR: 220C>T; Arg74Trp

PubMed Link: 36717774

Variant Present in the following documents:

• 10020_2023_600_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

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: R74W

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

View BVdb publication page

---

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: R74W

PubMed Link: 36631132

Variant Present in the following documents:

• Main text
• ERR-0154-2022.pdf

View BVdb publication page

---

Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes.

Cells

Baldassarri, Margherita M; Zguro, Kristina K; Tomati, Valeria V; Pastorino, Cristina C; Fava, Francesca F; Croci, Susanna S; Bruttini, Mirella M; Picchiotti, Nicola N; Furini, Simone S; Gen-Covid Multicenter Study, ; Pedemonte, Nicoletta N; Gabbi, Chiara C; Renieri, Alessandra A; Fallerini, Chiara C

Publication Date: 2022-12-16

Variant appearance in text: CFTR: R74W

PubMed Link: 36552859

Variant Present in the following documents:

• Main text
• cells-11-04096.pdf

View BVdb publication page

---

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Nature Communications

Chan, Sock Hoai SH; Bylstra, Yasmin Y; Teo, Jing Xian JX; Kuan, Jyn Ling JL; Bertin, Nicolas N; Gonzalez-Porta, Mar M; Hebrard, Maxime M; Tirado-Magallanes, Roberto R; Tan, Joanna Hui Juan JHJ; Jeyakani, Justin J; Li, Zhihui Z; Chai, Jin Fang JF; Chong, Yap Seng YS; Davila, Sonia S; Goh, Liuh Ling LL; Lee, Eng Sing ES; Wong, Eleanor E; Wong, Tien Yin TY; , ; Prabhakar, Shyam S; Liu, Jianjun J; Cheng, Ching-Yu CY; Eisenhaber, Birgit B; Karnani, Neerja N; Leong, Khai Pang KP; Sim, Xueling X; Yeo, Khung Keong KK; Chambers, John C JC; Tai, E-Shyong ES; Tan, Patrick P; Jamuar, Saumya S SS; Ngeow, Joanne J; Lim, Weng Khong WK

Publication Date: 2022-11-05

Variant appearance in text: rs115545701

PubMed Link: 36335097

Variant Present in the following documents:

• Main text
• 41467_2022_Article_34116.pdf

View BVdb publication page

---

Bicarbonate defective CFTR variants increase risk for chronic pancreatitis: A meta-analysis.

Plos One

Berke, Gergő G; Gede, Noémi N; Szadai, Letícia L; Ocskay, Klementina K; Hegyi, Péter P; Sahin-Tóth, Miklós M; Hegyi, Eszter E

Publication Date: 2022

Variant appearance in text: CFTR: R74W

PubMed Link: 36264955

Variant Present in the following documents:

• Main text
• pone.0276397.pdf

View BVdb publication page

---

Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: rs115545701

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

---

Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry.

Orphanet Journal Of Rare Diseases

Rueda-Nieto, Senay S; Mondejar-Lopez, Pedro P; Mira-Escolano, María-Pilar MP; Cutillas-Tolín, Ana A; Maceda-Roldán, Luis Alberto LA; Arense-Gonzalo, Julián Jesús JJ; Palomar-Rodríguez, Joaquín A JA

Publication Date: 2022-06-13

Variant appearance in text: CFTR: R74W

PubMed Link: 35698092

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2373.pdf

View BVdb publication page

---

Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.

Diagnostics (Basel, Switzerland)

Almes, Marion M; Spraul, Anne A; Ruiz, Mathias M; Girard, Muriel M; Roquelaure, Bertrand B; Laborde, Nolwenn N; Gottrand, Fréderic F; Turquet, Anne A; Lamireau, Thierry T; Dabadie, Alain A; Bonneton, Marjorie M; Thebaut, Alice A; Rohmer, Babara B; Lacaille, Florence F; Broué, Pierre P; Fabre, Alexandre A; Mention-Mulliez, Karine K; Bouligand, Jérôme J; Jacquemin, Emmanuel E; Gonzales, Emmanuel E

Publication Date: 2022-05-07

Variant appearance in text: CFTR: 220C>T; Arg74Trp

PubMed Link: 35626323

Variant Present in the following documents:

• Main text
• diagnostics-12-01169.pdf

View BVdb publication page

---

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: R74W

PubMed Link: 35406809

Variant Present in the following documents:

• cells-11-01243.pdf

View BVdb publication page

---

Pharmacogenomic landscape of Indian population using whole genomes.

Clinical And Translational Science

Sahana, S S; Bhoyar, Rahul C RC; Sivadas, Ambily A; Jain, Abhinav A; Imran, Mohamed M; Rophina, Mercy M; Senthivel, Vigneshwar V; Kumar Diwakar, Mohit M; Sharma, Disha D; Mishra, Anushree A; Sivasubbu, Sridhar S; Scaria, Vinod V

Publication Date: 2022-04

Variant appearance in text: rs115545701

PubMed Link: 35338580

Variant Present in the following documents:

• Main text
• CTS-15-866.pdf

View BVdb publication page

---

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: 220C>T; R74W; rs115545701

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Genetic Epidemiology of Medication Safety and Efficacy Related Variants in the Central Han Chinese Population With Whole Genome Sequencing.

Frontiers In Pharmacology

Tian, Junbo J; Zhang, Jing J; Yang, Zengguang Z; Feng, Shuaisheng S; Li, Shujuan S; Ren, Shiqi S; Shi, Jianxiang J; Hou, Xinyue X; Xue, Xia X; Yang, Bei B; Xu, Hongen H; Guo, Jiancheng J

Publication Date: 2021

Variant appearance in text: rs115545701

PubMed Link: 35280256

Variant Present in the following documents:

• Main text
• fphar-12-790832.pdf

View BVdb publication page

---

Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Jama Network Open

Yin, Lingdi L; Wei, Jishu J; Lu, Zipeng Z; Huang, Shimeng S; Gao, Hao H; Chen, Jianmin J; Guo, Feng F; Tu, Min M; Xiao, Bin B; Xi, Chunhua C; Zhang, Kai K; Li, Qiang Q; Wu, Junli J; Gao, Wentao W; Jiang, Kuirong K; Yu, Jun J; Miao, Yi Y

Publication Date: 2022-02-01

Variant appearance in text: CFTR: 220C>T; Arg74Trp

PubMed Link: 35171259

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Jama Network Open

Yin, Lingdi L; Wei, Jishu J; Lu, Zipeng Z; Huang, Shimeng S; Gao, Hao H; Chen, Jianmin J; Guo, Feng F; Tu, Min M; Xiao, Bin B; Xi, Chunhua C; Zhang, Kai K; Li, Qiang Q; Wu, Junli J; Gao, Wentao W; Jiang, Kuirong K; Yu, Jun J; Miao, Yi Y

Publication Date: 2022-02-01

Variant appearance in text: CFTR: 220C>T; Arg74Trp

PubMed Link: 35171259

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

Journal Of Clinical Immunology

Kernan, Kate F KF; Ghaloul-Gonzalez, Lina L; Vockley, Jerry J; Lamb, Janette J; Hollingshead, Deborah D; Chandran, Uma U; Sethi, Rahil R; Park, Hyun-Jung HJ; Berg, Robert A RA; Wessel, David D; Pollack, Murray M MM; Meert, Kathleen L KL; Hall, Mark W MW; Newth, Christopher J L CJL; Lin, John C JC; Doctor, Allan A; Shanley, Tom T; Cornell, Tim T; Harrison, Rick E RE; Zuppa, Athena F AF; Banks, Russel R; Reeder, Ron W RW; Holubkov, Richard R; Notterman, Daniel A DA; Dean, J Michael JM; Carcillo, Joseph A JA

Publication Date: 2022-02

Variant appearance in text: CFTR: 220C>T; Arg74Trp

PubMed Link: 34973142

Variant Present in the following documents:

• 10875_2021_1183_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

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: rs115545701

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations.

Frontiers In Pharmacology

da Rocha, Jorge E B JEB; Othman, Houcemeddine H; Botha, Gerrit G; Cottino, Laura L; Twesigomwe, David D; Ahmed, Samah S; Drögemöller, Britt I BI; Fadlelmola, Faisal M FM; Machanick, Philip P; Mbiyavanga, Mamana M; Panji, Sumir S; Wright, Galen E B GEB; Adebamowo, Clement C; Matshaba, Mogomotsi M; Ramsay, Michéle M; Simo, Gustave G; Simuunza, Martin C MC; Tiemessen, Caroline T CT; Baldwin, Sandra S; Chiano, Mathias M; Cox, Charles C; Gross, Annette S AS; Thomas, Pamela P; Gamo, Francisco-Javier FJ; Hazelhurst, Scott S

Publication Date: 2021

Variant appearance in text: rs115545701

PubMed Link: 34721006

Variant Present in the following documents:

• Main text
• fphar-12-634016.pdf

View BVdb publication page

---

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: R74W

PubMed Link: 34577628

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00928.pdf

View BVdb publication page

---

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: rs115545701

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 6
• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

View BVdb publication page

---

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: R74W

PubMed Link: 34201249

Variant Present in the following documents:

• Main text
• ijms-22-06193.pdf

View BVdb publication page

---

Association of the CFTR gene with asthma and airway mucus hypersecretion.

Plos One

Crespo-Lessmann, Astrid A; Bernal, Sara S; Del Río, Elisabeth E; Rojas, Ester E; Martínez-Rivera, Carlos C; Marina, Nuria N; Pallarés-Sanmartín, Abel A; Pascual, Silvia S; García-Rivero, Juan Luis JL; Padilla-Galo, Alicia A; Curto, Elena E; Cisneros, Carolina C; Serrano, José J; Baiget, Montserrat M; Plaza, Vicente V; ,

Publication Date: 2021

Variant appearance in text: CFTR: 220C>T; Arg74Trp

PubMed Link: 34086689

Variant Present in the following documents:

• Main text
• pone.0251881.pdf

View BVdb publication page

---

Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?

Genes

Mekki, Chadia C; Aissat, Abdel A; Mirlesse, Véronique V; Mayer Lacrosniere, Sophie S; Eche, Elsa E; Le Floch, Annick A; Whalen, Sandra S; Prud'Homme, Cecile C; Remus, Christelle C; Funalot, Benoit B; Castaigne, Vanina V; Fanen, Pascale P; de Becdelièvre, Alix A

Publication Date: 2021-04-29

Variant appearance in text: CFTR: R74W; rs115545701

PubMed Link: 33946859

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: R74W

PubMed Link: 33922413

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: Arg74Trp; rs115545701

PubMed Link: 33600428

Variant Present in the following documents:

• Main text
• pgen.1009323.s010.xlsx, sheet 1
• pgen.1009323.s003.xlsx, sheet 1

View BVdb publication page

---

Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Genes

Bozdogan, Sevcan Tug ST; Mujde, Cem C; Boga, Ibrahim I; Sonmezler, Ozge O; Hanta, Abdullah A; Rencuzogullari, Cagla C; Ozcan, Dilek D; Altintas, Derya Ufuk DU; Bisgin, Atil A

Publication Date: 2021-01-31

Variant appearance in text: CFTR: R74W

PubMed Link: 33572515

Variant Present in the following documents:

• Main text
• genes-12-00206.pdf

View BVdb publication page

---

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: R74W

PubMed Link: 33282281

Variant Present in the following documents:

• Main text
• mrm-15-1-690.pdf

View BVdb publication page

---

Extensive CFTR Gene Analysis Revealed a Higher Occurrence of Cystic Fibrosis Transmembrane Regulator-Related Disorders (CFTR-RD) among CF Carriers.

Journal Of Clinical Medicine

Esposito, Maria Valeria MV; Aveta, Achille A; Comegna, Marika M; Cernera, Gustavo G; Iacotucci, Paola P; Carnovale, Vincenzo V; Taccetti, Giovanni G; Terlizzi, Vito V; Castaldo, Giuseppe G

Publication Date: 2020-11-27

Variant appearance in text: CFTR: R74W

PubMed Link: 33260873

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 220C>T; R74W

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

---

The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis.

International Journal Of Neonatal Screening

Bergougnoux, Anne A; Lopez, Maureen M; Girodon, Emmanuelle E

Publication Date: 2020-03

Variant appearance in text: CFTR: R74W

PubMed Link: 33073020

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies.

International Journal Of Neonatal Screening

Marcão, Ana A; Barreto, Celeste C; Pereira, Luísa L; Vaz, Luísa Guedes LG; Cavaco, José J; Casimiro, Ana A; Félix, Miguel M; Silva, Teresa Reis TR; Barbosa, Telma T; Freitas, Cristina C; Nunes, Sidónia S; Felício, Verónica V; Lopes, Lurdes L; Amaral, Margarida M; Vilarinho, Laura L

Publication Date: 2018-09

Variant appearance in text: CFTR: R74W

PubMed Link: 33072945

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Pan-neuroblastoma analysis reveals age- and signature-associated driver alterations.

Nature Communications

Brady, Samuel W SW; Liu, Yanling Y; Ma, Xiaotu X; Gout, Alexander M AM; Hagiwara, Kohei K; Zhou, Xin X; Wang, Jian J; Macias, Michael M; Chen, Xiaolong X; Easton, John J; Mulder, Heather L HL; Rusch, Michael M; Wang, Lu L; Nakitandwe, Joy J; Lei, Shaohua S; Davis, Eric M EM; Naranjo, Arlene A; Cheng, Cheng C; Maris, John M JM; Downing, James R JR; Cheung, Nai-Kong V NV; Hogarty, Michael D MD; Dyer, Michael A MA; Zhang, Jinghui J

Publication Date: 2020-10-14

Variant appearance in text: CFTR: R74W

PubMed Link: 33056981

Variant Present in the following documents:

• 41467_2020_18987_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Intestinal current measurement and nasal potential difference to make a diagnosis of cases with inconclusive CFTR genetics and sweat test.

Bmj Open Respiratory Research

Minso, Rebecca R; Schulz, Angela A; Dopfer, Christian C; Alfeis, Nadine N; Barneveld, Andrea van AV; Makartian-Gyulumyan, Lena L; Hansen, Gesine G; Junge, Sibylle S; Müller, Carsten C; Ringshausen, Felix C C FCC; Sauer-Heilborn, Annette A; Stanke, Frauke F; Stolpe, Cornelia C; Tamm, Stephanie S; Welte, Tobias T; Dittrich, Anna-Maria AM; Tümmler, Burkhard B

Publication Date: 2020-10

Variant appearance in text: CFTR: Arg74Trp

PubMed Link: 33020115

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: R74W

PubMed Link: 32934006

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

---

mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: CFTR: R74W

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

---

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: R74W

PubMed Link: 32414011

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The true panel of cystic fibrosis mutations in the Sicilian population.

Bmc Medical Genetics

Chamayou, Sandrine S; Sicali, Maria M; Lombardo, Debora D; Maglia, Elena E; Liprino, Annalisa A; Cardea, Clementina C; Fichera, Michele M; Venti, Ermanno E; Guglielmino, Antonino A

Publication Date: 2020-05-01

Variant appearance in text: CFTR: R74W

PubMed Link: 32357917

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Functional and Pharmacological Characterization of the Rare CFTR Mutation W361R.

Frontiers In Pharmacology

Billet, Arnaud A; Elbahnsi, Ahmad A; Jollivet-Souchet, Mathilde M; Hoffmann, Brice B; Mornon, Jean-Paul JP; Callebaut, Isabelle I; Becq, Frédéric F

Publication Date: 2020

Variant appearance in text: CFTR: R74W

PubMed Link: 32256364

Variant Present in the following documents:

• Main text
• fphar-11-00295.pdf

View BVdb publication page

---

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: R74W

PubMed Link: 32153386

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: R74W

PubMed Link: 32130336

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Pediatric Orphan Drug Indications: 2010-2018.

Pediatrics

Kimmel, Lauren L; Conti, Rena M RM; Volerman, Anna A; Chua, Kao-Ping KP

Publication Date: 2020-04

Variant appearance in text: CFTR: R74W

PubMed Link: 32127360

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Annals Of Saudi Medicine

Banjar, Hanaa Hasan HH; Tuleimat, Lin L; El Seoudi, Abdul Aziz Agha AAA; Mogarri, Ibrahim I; Alhaider, Sami S; Nizami, Imran Yaqoob IY; AlMaghamsi, Talal T; Alkaf, Sara Andulrahman SA; Moghrabi, Nabil N

Publication Date: 2020

Variant appearance in text: CFTR: R74W

PubMed Link: 32026723

Variant Present in the following documents:

• 0256-4947.2020.15.pdf

View BVdb publication page

---

Universal strategy for preimplantation genetic testing for cystic fibrosis based on next generation sequencing.

Journal Of Assisted Reproduction And Genetics

Chamayou, Sandrine S; Sicali, Maria M; Lombardo, Debora D; Alecci, Carmelita C; Ragolia, Carmen C; Maglia, Elena E; Liprino, Annalisa A; Cardea, Clementina C; Storaci, Giorgia G; Romano, Simona S; Guglielmino, Antonino A

Publication Date: 2020-01

Variant appearance in text: CFTR: 220C>T; R74W

PubMed Link: 31828483

Variant Present in the following documents:

• 10815_2019_Article_1635.pdf

View BVdb publication page

---

Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: CFTR: R74W

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

---

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: R74W

PubMed Link: 31715091

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Identification of CFTR variants in Latino patients with cystic fibrosis from the Dominican Republic and Puerto Rico.

Pediatric Pulmonology

Zeiger, Andrew M AM; McGarry, Meghan E ME; Mak, Angel C Y ACY; Medina, Vivian V; Salazar, Sandra S; Eng, Celeste C; Liu, Amy K AK; Oh, Sam S SS; Nuckton, Thomas J TJ; Jain, Deepti D; Blackwell, Thomas W TW; Kang, Hyun Min HM; Abecasis, Goncalo G; Oñate, Leandra Cordero LC; Seibold, Max A MA; Burchard, Esteban G EG; Rodriguez-Santana, Jose J

Publication Date: 2020-02

Variant appearance in text: CFTR: 220C>T; Arg74Trp

PubMed Link: 31665830

Variant Present in the following documents:

• Main text

View BVdb publication page

---

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: CFTR: 220C>T; R74W

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.

Cancers

Fernandez-Rozadilla, Ceres C; Alvarez-Barona, Miriam M; Schamschula, Esther E; Bodo, Sahra S; Lopez-Novo, Anael A; Dacal, Andres A; Calviño-Costas, Consuelo C; Lancho, Angel A; Amigo, Jorge J; Bello, Xabier X; Cameselle-Teijeiro, Jose Manuel JM; Carracedo, Angel A; Colas, Chrystelle C; Muleris, Martine M; Wimmer, Katharina K; Ruiz-Ponte, Clara C

Publication Date: 2019-07-30

Variant appearance in text: rs115545701

PubMed Link: 31366136

Variant Present in the following documents:

• cancers-11-01081-s001.pdf

View BVdb publication page

---

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: 220C>T; R74W; rs115545701

PubMed Link: 30996306

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42404.pdf

View BVdb publication page

---

Actionable Pharmacogenetic Variation in the Slovenian Genomic Database.

Frontiers In Pharmacology

Hočevar, Keli K; Maver, Aleš A; Peterlin, Borut B

Publication Date: 2019

Variant appearance in text: CFTR: 220C>T; Arg74Trp

PubMed Link: 30930780

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: R74W

PubMed Link: 30873022

Variant Present in the following documents:

• Main text

View BVdb publication page

---