Publications:

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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: D614G

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

View BVdb publication page

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Advances of CRISPR-Cas13 system in COVID-19 diagnosis and treatment.

Genes & Diseases

Zhou, Qianqian Q; Chen, Yanhua Y; Wang, Ruolei R; Jia, Fengjing F; He, Feng F; Yuan, Fuwen F

Publication Date: 2022-12-27

Variant appearance in text: CFTR: D614G

PubMed Link: 36591005

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Respiratory mucosal vaccination of peptide-poloxamine-DNA nanoparticles provides complete protection against lethal SARS-CoV-2 challenge.

Biomaterials

Sun, Si S; Li, Entao E; Zhao, Gan G; Tang, Jie J; Zuo, Qianfei Q; Cai, Larry L; Xu, Chuanfei C; Sui, Cheng C; Ou, Yangxue Y; Liu, Chang C; Li, Haibo H; Ding, Yuan Y; Li, Chao C; Lu, Dongshui D; Zhang, Weijun W; Luo, Ping P; Cheng, Ping P; Gao, Yuwei Y; Tu, Changchun C; Pitard, Bruno B; Rosenecker, Joseph J; Wang, Bin B; Liu, Yan Y; Zou, Quanming Q; Guan, Shan S

Publication Date: 2022-11-18

Variant appearance in text: CFTR: D614G

PubMed Link: 36436305

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Bioactive natural products in COVID-19 therapy.

Frontiers In Pharmacology

Wang, Zhonglei Z; Wang, Ning N; Yang, Liyan L; Song, Xian-Qing XQ

Publication Date: 2022

Variant appearance in text: CFTR: D614G

PubMed Link: 36059994

Variant Present in the following documents:

• fphar-13-926507.pdf

View BVdb publication page

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Molecular dynamics studies reveal structural and functional features of the SARS-CoV-2 spike protein.

Bioessays : News And Reviews In Molecular, Cellular And Developmental Biology

Pipitò, Ludovico L; Rujan, Roxana-Maria RM; Reynolds, Christopher A CA; Deganutti, Giuseppe G

Publication Date: 2022-09

Variant appearance in text: CFTR: D614G

PubMed Link: 35843871

Variant Present in the following documents:

• Main text
• BIES-9999-0.pdf

View BVdb publication page

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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: 2022-04-13

Variant appearance in text: CFTR: D614G

PubMed Link: 35418593

Variant Present in the following documents:

• 42003_2022_Article_3302.pdf

View BVdb publication page

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Nanotechnologies in Delivery of DNA and mRNA Vaccines to the Nasal and Pulmonary Mucosa.

Nanomaterials (Basel, Switzerland)

Tang, Jie J; Cai, Larry L; Xu, Chuanfei C; Sun, Si S; Liu, Yuheng Y; Rosenecker, Joseph J; Guan, Shan S

Publication Date: 2022-01-11

Variant appearance in text: CFTR: D614G

PubMed Link: 35055244

Variant Present in the following documents:

• Main text
• nanomaterials-12-00226.pdf

View BVdb publication page

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Nanotechnologies in Delivery of DNA and mRNA Vaccines to the Nasal and Pulmonary Mucosa.

Nanomaterials (Basel, Switzerland)

Tang, Jie J; Cai, Larry L; Xu, Chuanfei C; Sun, Si S; Liu, Yuheng Y; Rosenecker, Joseph J; Guan, Shan S

Publication Date: 2022-01-11

Variant appearance in text: CFTR: D614G

PubMed Link: 35055244

Variant Present in the following documents:

• Main text
• nanomaterials-12-00226.pdf

View BVdb publication page

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Biosensors for Point Mutation Detection.

Frontiers In Bioengineering And Biotechnology

Jiang, Hanlin H; Xi, Hui H; Juhas, Mario M; Zhang, Yang Y

Publication Date: 2021

Variant appearance in text: CFTR: D614G

PubMed Link: 34976987

Variant Present in the following documents:

• Main text

View BVdb publication page

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mRNA, a Revolution in Biomedicine.

Pharmaceutics

Baptista, Bruno B; Carapito, Rita R; Laroui, Nabila N; Pichon, Chantal C; Sousa, Fani F

Publication Date: 2021-12-05

Variant appearance in text: CFTR: D614G

PubMed Link: 34959371

Variant Present in the following documents:

• Main text

View BVdb publication page

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The fatty acid site is coupled to functional motifs in the SARS-CoV-2 spike protein and modulates spike allosteric behaviour.

Computational And Structural Biotechnology Journal

Sofia F Oliveira, A A; Shoemark, Deborah K DK; Avila Ibarra, Amaurys A; Davidson, Andrew D AD; Berger, Imre I; Schaffitzel, Christiane C; Mulholland, Adrian J AJ

Publication Date: 2022

Variant appearance in text: CFTR: D614G

PubMed Link: 34934478

Variant Present in the following documents:

• main.pdf
• mmc1.pdf

View BVdb publication page

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Common cardiac medications potently inhibit ACE2 binding to the SARS-CoV-2 Spike, and block virus penetration and infectivity in human lung cells.

Scientific Reports

Caohuy, Hung H; Eidelman, Ofer O; Chen, Tinghua T; Liu, Shufeng S; Yang, Qingfeng Q; Bera, Alakesh A; Walton, Nathan I NI; Wang, Tony T TT; Pollard, Harvey B HB

Publication Date: 2021-11-12

Variant appearance in text: CFTR: D614G

PubMed Link: 34773067

Variant Present in the following documents:

• Main text

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: D614G

PubMed Link: 34764878

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs201124247

PubMed Link: 34721006

Variant Present in the following documents:

• datasheet1.pdf

View BVdb publication page

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Determinants of SARS-CoV-2 entry and replication in airway mucosal tissue and susceptibility in smokers.

Cell Reports. Medicine

Nakayama, Tsuguhisa T; Lee, Ivan T IT; Jiang, Sizun S; Matter, Matthias S MS; Yan, Carol H CH; Overdevest, Jonathan B JB; Wu, Chien-Ting CT; Goltsev, Yury Y; Shih, Liang-Chun LC; Liao, Chun-Kang CK; Zhu, Bokai B; Bai, Yunhao Y; Lidsky, Peter P; Xiao, Yinghong Y; Zarabanda, David D; Yang, Angela A; Easwaran, Meena M; Schürch, Christian M CM; Chu, Pauline P; Chen, Han H; Stalder, Anna K AK; McIlwain, David R DR; Borchard, Nicole A NA; Gall, Phillip A PA; Dholakia, Sachi S SS; Le, Wei W; Xu, Le L; Tai, Chih-Jaan CJ; Yeh, Te-Huei TH; Erickson-Direnzo, Elizabeth E; Duran, Jason M JM; Mertz, Kirsten D KD; Hwang, Peter H PH; Haslbauer, Jasmin D JD; Jackson, Peter K PK; Menter, Thomas T; Andino, Raul R; Canoll, Peter D PD; DeConde, Adam S AS; Patel, Zara M ZM; Tzankov, Alexandar A; Nolan, Garry P GP; Nayak, Jayakar V JV

Publication Date: 2021-10-19

Variant appearance in text: CFTR: D614G

PubMed Link: 34604819

Variant Present in the following documents:

• Main text
• main.pdf
• mmc2.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: rs201124247

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: 1841A>G; Asp614Gly; rs201124247

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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Personalized Medicine Based on Nasal Epithelial Cells: Comparative Studies with Rectal Biopsies and Intestinal Organoids.

Journal Of Personalized Medicine

Silva, Iris A L IAL; Railean, Violeta V; Duarte, Aires A; Amaral, Margarida D MD

Publication Date: 2021-05-16

Variant appearance in text: CFTR: D614G

PubMed Link: 34065744

Variant Present in the following documents:

• Main text
• jpm-11-00421.pdf

View BVdb publication page

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In silico characterization of mutations circulating in SARS-CoV-2 structural proteins.

Journal Of Biomolecular Structure & Dynamics

Periwal, Neha N; Rathod, Shravan B SB; Pal, Ranjan R; Sharma, Priya P; Nebhnani, Lata L; Barnwal, Ravi P RP; Arora, Pooja P; Srivastava, Kinshuk Raj KR; Sood, Vikas V

Publication Date: 2021-04-02

Variant appearance in text: CFTR: D614G

PubMed Link: 33797336

Variant Present in the following documents:

• TBSD_0_1908170.pdf

View BVdb publication page

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In silico characterization of mutations circulating in SARS-CoV-2 structural proteins.

Journal Of Biomolecular Structure & Dynamics

Periwal, Neha N; Rathod, Shravan B SB; Pal, Ranjan R; Sharma, Priya P; Nebhnani, Lata L; Barnwal, Ravi P RP; Arora, Pooja P; Srivastava, Kinshuk Raj KR; Sood, Vikas V

Publication Date: 2022-11

Variant appearance in text: CFTR: D614G

PubMed Link: 33797336

Variant Present in the following documents:

• TBSD_0_1908170.pdf

View BVdb publication page

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Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Rauscher, Robert R; Bampi, Giovana B GB; Guevara-Ferrer, Marta M; Santos, Leonardo A LA; Joshi, Disha D; Mark, David D; Strug, Lisa J LJ; Rommens, Johanna M JM; Ballmann, Manfred M; Sorscher, Eric J EJ; Oliver, Kathryn E KE; Ignatova, Zoya Z

Publication Date: 2021-01-26

Variant appearance in text: CFTR: D614G

PubMed Link: 33468668

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and molecular characterization of the R751L-CFTR mutation.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Haq, Iram J IJ; Althaus, Mike M; Gardner, Aaron Ions AI; Yeoh, Hui Ying HY; Joshi, Urjita U; Saint-Criq, Vinciane V; Verdon, Bernard B; Townshend, Jennifer J; O'Brien, Christopher C; Ben-Hamida, Mahfud M; Thomas, Matthew M; Bourke, Stephen S; van der Sluijs, Peter P; Braakman, Ineke I; Ward, Chris C; Gray, Michael A MA; Brodlie, Malcolm M

Publication Date: 2021-02-01

Variant appearance in text: CFTR: D614G

PubMed Link: 33296276

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and molecular characterization of the R751L-CFTR mutation.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Haq, Iram J IJ; Althaus, Mike M; Gardner, Aaron Ions AI; Yeoh, Hui Ying HY; Joshi, Urjita U; Saint-Criq, Vinciane V; Verdon, Bernard B; Townshend, Jennifer J; O'Brien, Christopher C; Ben-Hamida, Mahfud M; Thomas, Matthew M; Bourke, Stephen S; van der Sluijs, Peter P; Braakman, Ineke I; Ward, Chris C; Gray, Michael A MA; Brodlie, Malcolm M

Publication Date: 2021-02-01

Variant appearance in text: CFTR: D614G

PubMed Link: 33296276

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Pathophysiological Model for COVID-19: Critical Importance of Transepithelial Sodium Transport upon Airway Infection.

Function (Oxford, England)

Gentzsch, Martina M; Rossier, Bernard C BC

Publication Date: 2020

Variant appearance in text: CFTR: D614G

PubMed Link: 33201937

Variant Present in the following documents:

• zqaa024.pdf

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: D614G

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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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: CFTR: 1841A>G; Asp614Gly

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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: 1841A>G; Asp614Gly; rs201124247

PubMed Link: 30996306

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42404.pdf

View BVdb publication page

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HDAC inhibitors rescue multiple disease-causing CFTR variants.

Human Molecular Genetics

Anglès, Frédéric F; Hutt, Darren M DM; Balch, William E WE

Publication Date: 2019-06-15

Variant appearance in text: CFTR: D614G

PubMed Link: 30753450

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structure-guided combination therapy to potently improve the function of mutant CFTRs.

Nature Medicine

Veit, Guido G; Xu, Haijin H; Dreano, Elise E; Avramescu, Radu G RG; Bagdany, Miklos M; Beitel, Lenore K LK; Roldan, Ariel A; Hancock, Mark A MA; Lay, Cecilia C; Li, Wei W; Morin, Katelin K; Gao, Sandra S; Mak, Puiying A PA; Ainscow, Edward E; Orth, Anthony P AP; McNamara, Peter P; Edelman, Aleksander A; Frenkiel, Saul S; Matouk, Elias E; Sermet-Gaudelus, Isabelle I; Barnes, William G WG; Lukacs, Gergely L GL

Publication Date: 2018-11

Variant appearance in text: CFTR: D614G

PubMed Link: 30297908

Variant Present in the following documents:

• Main text

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: D614G

PubMed Link: 30134826

Variant Present in the following documents:

• Main text

View BVdb publication page

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Bridging Genomics to Phenomics at Atomic Resolution through Variation Spatial Profiling.

Cell Reports

Wang, Chao C; Balch, William E WE

Publication Date: 2018-08-21

Variant appearance in text: CFTR: D614G

PubMed Link: 30134164

Variant Present in the following documents:

• NIHMS986613-supplement-1.pdf

View BVdb publication page

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Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

Andrology

de Souza, D A S DAS; Faucz, F R FR; Pereira-Ferrari, L L; Sotomaior, V S VS; Raskin, S S

Publication Date: 2018-01

Variant appearance in text: CFTR: D614G

PubMed Link: 29216686

Variant Present in the following documents:

• Main text

View BVdb publication page

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Thirty Years of Sweat Chloride Testing at One Referral Center.

Frontiers In Pediatrics

Faria, Alethéa Guimarães AG; Marson, Fernando Augusto Lima FAL; Gomez, Carla Cristina Souza CCS; Servidoni, Maria de Fátima MF; Ribeiro, Antônio Fernando AF; Ribeiro, José Dirceu JD

Publication Date: 2017

Variant appearance in text: CFTR: D614G

PubMed Link: 29124052

Variant Present in the following documents:

• Main text
• fped-05-00222.pdf

View BVdb publication page

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Mutation-specific downregulation of CFTR2 variants by gating potentiators.

Human Molecular Genetics

Avramescu, Radu G RG; Kai, Yukari Y; Xu, Haijin H; Bidaud-Meynard, Aurélien A; Schnúr, Andrea A; Frenkiel, Saul S; Matouk, Elias E; Veit, Guido G; Lukacs, Gergely L GL

Publication Date: 2017-12-15

Variant appearance in text: CFTR: D614G

PubMed Link: 29040544

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: CFTR: 1841A>G; D614G

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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: D614G

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: D614G

PubMed Link: 26823392

Variant Present in the following documents:

• Main text
• 424.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs201124247

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: D614G

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

European Journal Of Human Genetics : Ejhg

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

Publication Date: 2016-04

Variant appearance in text: CFTR: 1841A>G; Asp614Gly

PubMed Link: 26014425

Variant Present in the following documents:

• Main text
• ejhg201599a.pdf

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: 1841A>G; Asp614Gly

PubMed Link: 25910067

Variant Present in the following documents:

• Main text

View BVdb publication page

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

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

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

Publication Date: 2016-03

Variant appearance in text: CFTR: 1841A>G; D614G

PubMed Link: 25674778

Variant Present in the following documents:

• Main text

View BVdb publication page

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Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity.

Human Molecular Genetics

Masica, David L DL; Sosnay, Patrick R PR; Raraigh, Karen S KS; Cutting, Garry R GR; Karchin, Rachel R

Publication Date: 2015-04-01

Variant appearance in text: CFTR: D614G

PubMed Link: 25489051

Variant Present in the following documents:

• Main text

View BVdb publication page

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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Nature Genetics

Sosnay, Patrick R PR; Siklosi, Karen R KR; Van Goor, Fredrick F; Kaniecki, Kyle K; Yu, Haihui H; Sharma, Neeraj N; Ramalho, Anabela S AS; Amaral, Margarida D MD; Dorfman, Ruslan R; Zielenski, Julian J; Masica, David L DL; Karchin, Rachel R; Millen, Linda L; Thomas, Philip J PJ; Patrinos, George P GP; Corey, Mary M; Lewis, Michelle H MH; Rommens, Johanna M JM; Castellani, Carlo C; Penland, Christopher M CM; Cutting, Garry R GR

Publication Date: 2013-10

Variant appearance in text: CFTR: 1841A>G; D614G; rs201124247

PubMed Link: 23974870

Variant Present in the following documents:

• NIHMS512446-supplement-12.xlsx, sheet 1

View BVdb publication page

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Cystic fibrosis newborn screening: distribution of blood immunoreactive trypsinogen concentrations in hypertrypsinemic neonates.

Jimd Reports

Paracchini, Valentina V; Seia, Manuela M; Raimondi, Sara S; Costantino, Lucy L; Capasso, Patrizia P; Porcaro, Luigi L; Colombo, Carla C; Coviello, Domenico A DA; Mariani, Tiziana T; Manzoni, Emanuela E; Sangiovanni, Monica M; Corbetta, Carlo C

Publication Date: 2012

Variant appearance in text: CFTR: 1841A>G; Asp614Gly

PubMed Link: 23430892

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.

Respiratory Research

Green, Deanna M DM; McDougal, Kathryn E KE; Blackman, Scott M SM; Sosnay, Patrick R PR; Henderson, Lindsay B LB; Naughton, Kathleen M KM; Collaco, J Michael JM; Cutting, Garry R GR

Publication Date: 2010-10-08

Variant appearance in text: CFTR: D614G

PubMed Link: 20932301

Variant Present in the following documents:

• Main text
• 1465-9921-11-140.pdf

View BVdb publication page

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Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.

Protein Science : A Publication Of The Protein Society

Kelly, Libusha L; Fukushima, Hisayo H; Karchin, Rachel R; Gow, Jason M JM; Chinn, Leslie W LW; Pieper, Ursula U; Segal, Mark R MR; Kroetz, Deanna L DL; Sali, Andrej A

Publication Date: 2010-11

Variant appearance in text: CFTR: D614G

PubMed Link: 20799350

Variant Present in the following documents:

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Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens.

Fertility And Sterility

Havasi, Viktoria V; Rowe, Steven M SM; Kolettis, Peter N PN; Dayangac, Didem D; Sahin, Ahmet A; Grangeia, Ana A; Carvalho, Filipa F; Barros, Alberto A; Sousa, Mario M; Bassas, Lluis L; Casals, Teresa T; Sorscher, Eric J EJ

Publication Date: 2010-11

Variant appearance in text: CFTR: D614G

PubMed Link: 20100616

Variant Present in the following documents:

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Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.

Bmc Medical Genetics

D'Apice, Maria Rosaria MR; Gambardella, Stefano S; Bengala, Mario M; Russo, Silvia S; Nardone, Anna Maria AM; Lucidi, Vincenzina V; Sangiuolo, Federica F; Novelli, Giuseppe G

Publication Date: 2004-04-14

Variant appearance in text: CFTR: D614G

PubMed Link: 15084222

Variant Present in the following documents:

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Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas.

Gut

Ahmed, N N; Corey, M M; Forstner, G G; Zielenski, J J; Tsui, L-C LC; Ellis, L L; Tullis, E E; Durie, P P

Publication Date: 2003-08

Variant appearance in text: CFTR: D614G

PubMed Link: 12865275

Variant Present in the following documents:

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