Publications:

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

Frontiers In Pharmacology

Tümmler, Burkhard B

Publication Date: 2023

Variant appearance in text: CFTR: Ala561Glu

PubMed Link: 37025483

Variant Present in the following documents:

• Main text
• fphar-14-1158207.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: 1682C>A; Ala561Glu

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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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: Ala561Glu

PubMed Link: 35698092

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2373.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: A561E

PubMed Link: 35585144

Variant Present in the following documents:

• 42003_2022_3457_MOESM1_ESM.pdf

View BVdb publication page

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Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics

Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A

Publication Date: 2022

Variant appearance in text: CFTR: 1682C>A; rs121909047

PubMed Link: 35495172

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

View BVdb publication page

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CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor.

Jci Insight

Raraigh, Karen S KS; Paul, Kathleen C KC; Goralski, Jennifer L JL; Worthington, Erin N EN; Faino, Anna V AV; Sciortino, Stanley S; Wang, Yiting Y; Aksit, Melis A MA; Ling, Hua H; Osorio, Derek L DL; Onchiri, Frankline M FM; Patel, Shivani U SU; Merlo, Christian A CA; Montemayor, Kristina K; Gibson, Ronald L RL; West, Natalie E NE; Thakerar, Amita A; Bridges, Robert J RJ; Sheppard, David N DN; Sharma, Neeraj N; Cutting, Garry R GR

Publication Date: 2022-03-22

Variant appearance in text: CFTR: A561E

PubMed Link: 35315358

Variant Present in the following documents:

• jciinsight-7-148841-s135.pdf

View BVdb publication page

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Probing Allosteric Hsp70 Inhibitors by Molecular Modelling Studies to Expedite the Development of Novel Combined F508del CFTR Modulators.

Pharmaceuticals (Basel, Switzerland)

Sabbadini, Roberto R; Pesce, Emanuela E; Parodi, Alice A; Mustorgi, Eleonora E; Bruzzone, Santina S; Pedemonte, Nicoletta N; Casale, Monica M; Millo, Enrico E; Cichero, Elena E

Publication Date: 2021-12-12

Variant appearance in text: CFTR: A561E

PubMed Link: 34959696

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

Balkan Medical Journal

Erdoğan, Murat M; Köse, Mehmet M; Pekcan, Sevgi S; Hangül, Melih M; Balta, Burhan B; Kiraz, Aslıhan A; Akıncı Gönen, Gizem G; Zamani, Ayşe Gül AG; Yıldırım, Mahmut Selam MS; Ramaslı Gürsoy, Tuğba T; Ezgu, Fatih F; Şişmanlar Eyüpoğlu, Tuğba T; Tana Aslan, Ayse A

Publication Date: 2021-11

Variant appearance in text: CFTR: 1682C>A

PubMed Link: 34860163

Variant Present in the following documents:

• Main text
• bmj-38-6-357.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: rs121909047

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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Whole-Exome Sequencing in Papillary Microcarcinoma: Potential Early Biomarkers of Lateral Lymph Node Metastasis.

Endocrinology And Metabolism (Seoul, Korea)

Kim, Mijin M; Kwon, Chae Hwa CH; Jang, Min Hee MH; Kim, Jeong Mi JM; Kim, Eun Heui EH; Jeon, Yun Kyung YK; Kim, Sang Soo SS; Choi, Kyung-Un KU; Kim, In Joo IJ; Park, Meeyoung M; Kim, Bo Hyun BH

Publication Date: 2021-10

Variant appearance in text: CFTR: A561E

PubMed Link: 34731936

Variant Present in the following documents:

• Main text
• enm-2021-1132-suppl4.pdf
• enm-2021-1132.pdf

View BVdb publication page

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A small molecule CFTR potentiator restores ATP-dependent channel gating to the cystic fibrosis mutant G551D-CFTR.

British Journal Of Pharmacology

Liu, Jia J; Berg, Allison P AP; Wang, Yiting Y; Jantarajit, Walailak W; Sutcliffe, Katy J KJ; Stevens, Edward B EB; Cao, Lishuang L; Pregel, Marko J MJ; Sheppard, David N DN

Publication Date: 2022-04

Variant appearance in text: CFTR: A561E

PubMed Link: 34644413

Variant Present in the following documents:

• Main text
• BPH-179-1319.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: rs121909047

PubMed Link: 34541464

Variant Present in the following documents:

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

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: 1682C>A; Ala561Glu; rs121909047

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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Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.

Disease Markers

Cambraia, Amanda A; Junior, Mario Campos MC; Zembrzuski, Verônica Marques VM; Junqueira, Ricardo Magrani RM; Cabello, Pedro Hernán PH; de Cabello, Giselda Maria Kalil GMK

Publication Date: 2021

Variant appearance in text: CFTR: 1682C>A; Ala561Glu; rs121909047

PubMed Link: 33613790

Variant Present in the following documents:

• Main text
• DM2021-9812074.pdf

View BVdb publication page

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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: A561E

PubMed Link: 33072945

Variant Present in the following documents:

• Main text

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: A561E

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: A561E

PubMed Link: 32934006

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Cystic Fibrosis: Overview of the Current Development Trends and Innovative Therapeutic Strategies.

Pharmaceutics

Almughem, Fahad A FA; Aldossary, Ahmad M AM; Tawfik, Essam A EA; Alomary, Mohammad N MN; Alharbi, Waleed S WS; Alshahrani, Mohammad Y MY; Alshehri, Abdullah A AA

Publication Date: 2020-07-02

Variant appearance in text: CFTR: A561E

PubMed Link: 32630625

Variant Present in the following documents:

• Main text
• pharmaceutics-12-00616.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: A561E

PubMed Link: 32153386

Variant Present in the following documents:

• Main text
• fphar-10-01662.pdf

View BVdb publication page

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Towards next generation therapies for cystic fibrosis: Folding, function and pharmacology of CFTR.

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

Bose, Samuel J SJ; Krainer, Georg G; Ng, Demi R S DRS; Schenkel, Mathias M; Shishido, Hideki H; Yoon, Jae Seok JS; Haggie, Peter M PM; Schlierf, Michael M; Sheppard, David N DN; Skach, William R WR

Publication Date: 2020-03

Variant appearance in text: CFTR: A561E

PubMed Link: 31902693

Variant Present in the following documents:

• Main text

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: CFTR: 1682C>A; A561E

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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: A561E

PubMed Link: 31776420

Variant Present in the following documents:

• Main text
• 41598_2019_Article_54158.pdf
• 41598_2019_54158_MOESM1_ESM.pdf

View BVdb publication page

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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: 1682C>A; A561E

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Hsp70 and DNAJA2 limit CFTR levels through degradation.

Plos One

Kim Chiaw, Patrick P; Hantouche, Christine C; Wong, Michael J H MJH; Matthes, Elizabeth E; Robert, Renaud R; Hanrahan, John W JW; Shrier, Alvin A; Young, Jason C JC

Publication Date: 2019

Variant appearance in text: CFTR: A561E

PubMed Link: 31408507

Variant Present in the following documents:

• Main text
• pone.0220984.pdf

View BVdb publication page

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Pharmacological analysis of CFTR variants of cystic fibrosis using stem cell-derived organoids.

Drug Discovery Today

Chen, Kevin G KG; Zhong, Pingyu P; Zheng, Wei W; Beekman, Jeffrey M JM

Publication Date: 2019-11

Variant appearance in text: CFTR: A561E

PubMed Link: 31173911

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1682C>A; A561E

PubMed Link: 31036917

Variant Present in the following documents:

• 41436_2019_525_MOESM3_ESM.xlsx, sheet 1

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: 1682C>A; A561E; rs121909047

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: A561E

PubMed Link: 30873022

Variant Present in the following documents:

• Main text
• fphar-10-00121.pdf

View BVdb publication page

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Genetic variation in thyroid folliculogenesis influences susceptibility to hypothyroidism-induced hearing impairment.

Mammalian Genome : Official Journal Of The International Mammalian Genome Society

Mortensen, Amanda H AH; Fang, Qing Q; Fleming, Michelle T MT; Jones, Thomas J TJ; Daly, Alexandre Z AZ; Johnson, Kenneth R KR; Camper, Sally A SA

Publication Date: 2019-02

Variant appearance in text: CFTR: Ala561Glu

PubMed Link: 30778664

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human Primary Epithelial Cell Models: Promising Tools in the Era of Cystic Fibrosis Personalized Medicine.

Frontiers In Pharmacology

Awatade, Nikhil T NT; Wong, Sharon L SL; Hewson, Chris K CK; Fawcett, Laura K LK; Kicic, Anthony A; Jaffe, Adam A; Waters, Shafagh A SA

Publication Date: 2018

Variant appearance in text: CFTR: A561E

PubMed Link: 30581387

Variant Present in the following documents:

• Main text
• fphar-09-01429.pdf

View BVdb publication page

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Peripheral Protein Quality Control as a Novel Drug Target for CFTR Stabilizer.

Frontiers In Pharmacology

Fukuda, Ryosuke R; Okiyoneda, Tsukasa T

Publication Date: 2018

Variant appearance in text: CFTR: A561E

PubMed Link: 30319426

Variant Present in the following documents:

• Main text
• fphar-09-01100.pdf

View BVdb publication page

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Molecular basis of cystic fibrosis: from bench to bedside.

Annals Of Translational Medicine

Dechecchi, Maria Cristina MC; Tamanini, Anna A; Cabrini, Giulio G

Publication Date: 2018-09

Variant appearance in text: CFTR: A561E

PubMed Link: 30306073

Variant Present in the following documents:

• Main text

View BVdb publication page

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Consuming Genistein Improves Survival Rates in the Absence of Laxative in ΔF508-CF Female Mice.

Nutrients

Lord, Ryan R; Fairbourn, Nathan N; Mylavarapu, Charisma C; Dbeis, Ammer A; Bowman, Taylor T; Chandrashekar, Archana A; Banayat, Tatum T; Hodges, Craig A CA; Al-Nakkash, Layla L

Publication Date: 2018-10-03

Variant appearance in text: CFTR: A561E

PubMed Link: 30282922

Variant Present in the following documents:

• Main text

View BVdb publication page

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Partial rescue of F508del-cystic fibrosis transmembrane conductance regulator channel gating with modest improvement of protein processing, but not stability, by a dual-acting small molecule.

British Journal Of Pharmacology

Liu, Jia J; Bihler, Hermann H; Farinha, Carlos M CM; Awatade, Nikhil T NT; Romão, Ana M AM; Mercadante, Dayna D; Cheng, Yi Y; Musisi, Isaac I; Jantarajit, Walailak W; Wang, Yiting Y; Cai, Zhiwei Z; Amaral, Margarida D MD; Mense, Martin M; Sheppard, David N DN

Publication Date: 2018-04

Variant appearance in text: CFTR: A561E

PubMed Link: 29318594

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1682C>A; Ala561Glu; rs121909047

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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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: CFTR: A561E

PubMed Link: 28937684

Variant Present in the following documents:

• Main text

View BVdb publication page

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Stabilization of a nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator yields insight into disease-causing mutations.

The Journal Of Biological Chemistry

Vernon, Robert M RM; Chong, P Andrew PA; Lin, Hong H; Yang, Zhengrong Z; Zhou, Qingxian Q; Aleksandrov, Andrei A AA; Dawson, Jennifer E JE; Riordan, John R JR; Brouillette, Christie G CG; Thibodeau, Patrick H PH; Forman-Kay, Julie D JD

Publication Date: 2017-08-25

Variant appearance in text: CFTR: A561E

PubMed Link: 28655774

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CFTR: 1682C>A; Ala561Glu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Development of Automated Patch Clamp Technique to Investigate CFTR Chloride Channel Function.

Frontiers In Pharmacology

Billet, Arnaud A; Froux, Lionel L; Hanrahan, John W JW; Becq, Frederic F

Publication Date: 2017

Variant appearance in text: CFTR: A561E

PubMed Link: 28439239

Variant Present in the following documents:

• fphar-08-00195.pdf

View BVdb publication page

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CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.

Molecular Genetics & Genomic Medicine

Leung, Gordon K C GK; Ying, Dingge D; Mak, Christopher C Y CC; Chen, Xin-Ying XY; Xu, Weiyi W; Yeung, Kit-San KS; Wong, Wai-Lap WL; Chu, Yoyo W Y YW; Mok, Gary T K GT; Chau, Christy S K CS; McLuskey, Jenna J; Ong, Winnie P T WP; Leong, Huey-Yin HY; Chan, Kelvin Y K KY; Yang, Wanling W; Chen, Jeng-Haur JH; Li, Albert M AM; Sham, Pak C PC; Lau, Yu-Lung YL; Chung, Brian H Y BH; Lee, So-Lun SL

Publication Date: 2017-01

Variant appearance in text: CFTR: A561E

PubMed Link: 28116329

Variant Present in the following documents:

• Main text
• MGG3-5-40.pdf

View BVdb publication page

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Poster Session Abstracts.

Pediatric Pulmonology

Publication Date: 2016-10

Variant appearance in text: CFTR: A561E

PubMed Link: 27653516

Variant Present in the following documents:

• Main text

View BVdb publication page

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Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants.

Plos Computational Biology

Masica, David L DL; Karchin, Rachel R

Publication Date: 2016-05

Variant appearance in text: CFTR: A561E

PubMed Link: 27171182

Variant Present in the following documents:

• Main text
• pcbi.1004725.pdf

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: A561E

PubMed Link: 26823392

Variant Present in the following documents:

• Main text
• 424.pdf

View BVdb publication page

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High frequency hearing thresholds and product distortion otoacoustic emissions in cystic fibrosis patients.

Brazilian Journal Of Otorhinolaryngology

Geyer, Lucia Bencke LB; Menna Barreto, Sergio Saldanha SS; Weigert, Liese Loureiro LL; Teixeira, Adriane Ribeiro AR

Publication Date: 2015

Variant appearance in text: CFTR: A561E

PubMed Link: 26480907

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Predicting CFTR activity with front-runner cystic fibrosis drugs.

Ebiomedicine

Becq, Frédéric F

Publication Date: 2015-02

Variant appearance in text: CFTR: A561E

PubMed Link: 26137547

Variant Present in the following documents:

• Main text

View BVdb publication page

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Measurements of Functional Responses in Human Primary Lung Cells as a Basis for Personalized Therapy for Cystic Fibrosis.

Ebiomedicine

Awatade, Nikhil T NT; Uliyakina, Inna I; Farinha, Carlos M CM; Clarke, Luka A LA; Mendes, Karina K; Solé, Amparo A; Pastor, Juan J; Ramos, Maria Margarida MM; Amaral, Margarida D MD

Publication Date: 2015

Variant appearance in text: CFTR: A561E

PubMed Link: 26137539

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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