Publications:

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Elexacaftor-Tezacaftor-Ivacaftor: A Life-Changing Triple Combination of CFTR Modulator Drugs for Cystic Fibrosis.

Pharmaceuticals (Basel, Switzerland)

Bacalhau, Mafalda M; Camargo, Mariana M; Magalhães-Ghiotto, Grace A V GAV; Drumond, Sybelle S; Castelletti, Carlos Henrique M CHM; Lopes-Pacheco, Miquéias M

Publication Date: 2023-03-08

Variant appearance in text: CFTR: R553Q

PubMed Link: 36986509

Variant Present in the following documents:

• Main text
• pharmaceuticals-16-00410.pdf

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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: R553Q

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: CFTR: 1658G>A; R553Q

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Early Effects of Elexacaftor-Tezacaftor-Ivacaftor Therapy on Magnetic Resonance Imaging in Patients with Cystic Fibrosis and Advanced Lung Disease.

Journal Of Clinical Medicine

Macconi, Letizia L; Galici, Valeria V; Di Maurizio, Marco M; Rossi, Enrica E; Taccetti, Giovanni G; Terlizzi, Vito V

Publication Date: 2022-07-22

Variant appearance in text: CFTR: R553Q

PubMed Link: 35893365

Variant Present in the following documents:

• Main text
• jcm-11-04277.pdf

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Translational Research in Cystic Fibrosis: From Bench to Beside.

Frontiers In Pediatrics

Garcia, Laura de Castro E LCE; Petry, Lucas Montiel LM; Germani, Pedro Augusto Van Der Sand PAVS; Xavier, Luiza Fernandes LF; de Barros, Paula Barros PB; Meneses, Amanda da Silva ADS; Prestes, Laura Menestrino LM; Bittencourt, Luana Braga LB; Pieta, Marina Puerari MP; Friedrich, Frederico F; Pinto, Leonardo Araújo LA

Publication Date: 2022

Variant appearance in text: CFTR: R553Q

PubMed Link: 35652053

Variant Present in the following documents:

• Main text
• fped-10-881470.pdf

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Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: CFTR: R553Q

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases

Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X

Publication Date: 2022-03-21

Variant appearance in text: CFTR: 1658G>A; R553Q; rs121909044

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: CFTR: R553Q

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3

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: rs121909044

PubMed Link: 34541464

Variant Present in the following documents:

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

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: R553Q

PubMed Link: 33922413

Variant Present in the following documents:

• Main text

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: 1658G>A; R553Q

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

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

Publication Date: 2020-09-21

Variant appearance in text: CFTR: R553Q

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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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: 1658G>A; R553Q

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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Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine

Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D

Publication Date: 2019-12

Variant appearance in text: CFTR: 1658G>A

PubMed Link: 31792460

Variant Present in the following documents:

• 41591_2019_654_MOESM2_ESM.xlsx, sheet 1

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: R553Q

PubMed Link: 31173911

Variant Present in the following documents:

• Main text

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Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon.

Molecular Genetics & Genomic Medicine

Schucht, Sylvia S; Minso, Rebecca R; Lex, Christiane C; Reiss, Jochen J; Stanke, Frauke F; Tamm, Stephanie S; van Barneveld, Andrea A; Tümmler, Burkhard B

Publication Date: 2019-02

Variant appearance in text: CFTR: Arg553Gln

PubMed Link: 30600599

Variant Present in the following documents:

• Main text

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A pathogenic role for cystic fibrosis transmembrane conductance regulator in celiac disease.

The Embo Journal

Villella, Valeria R VR; Venerando, Andrea A; Cozza, Giorgio G; Esposito, Speranza S; Ferrari, Eleonora E; Monzani, Romina R; Spinella, Mara C MC; Oikonomou, Vasilis V; Renga, Giorgia G; Tosco, Antonella A; Rossin, Federica F; Guido, Stefano S; Silano, Marco M; Garaci, Enrico E; Chao, Yu-Kai YK; Grimm, Christian C; Luciani, Alessandro A; Romani, Luigina L; Piacentini, Mauro M; Raia, Valeria V; Kroemer, Guido G; Maiuri, Luigi L

Publication Date: 2019-01-15

Variant appearance in text: CFTR: R553Q

PubMed Link: 30498130

Variant Present in the following documents:

• Main text
• EMBJ-38-e100101.pdf

View BVdb publication page

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Differential Scanning Fluorimetry and Hydrogen Deuterium Exchange Mass Spectrometry to Monitor the Conformational Dynamics of NBD1 in Cystic Fibrosis.

Methods In Molecular Biology (Clifton, N.J.)

Soya, Naoto N; Roldan, Ariel A; Lukacs, Gergely L GL

Publication Date: 2019

Variant appearance in text: CFTR: R553Q

PubMed Link: 30341603

Variant Present in the following documents:

• Main text

View BVdb publication page

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ΔF508-CFTR Modulator Screen Based on Cell Surface Targeting of a Chimeric Nucleotide Binding Domain 1 Reporter.

Slas Discovery : Advancing Life Sciences R & D

Phuan, Puay-Wah PW; Veit, Guido G; Tan, Joseph-Anthony JA; Roldan, Ariel A; Finkbeiner, Walter E WE; Haggie, Peter M PM; Lukacs, Gergely L GL; Verkman, Alan S AS

Publication Date: 2018-09

Variant appearance in text: CFTR: R553Q

PubMed Link: 29533733

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: 1658G>A; Arg553Gln; rs121909044

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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Chaperones rescue the energetic landscape of mutant CFTR at single molecule and in cell.

Nature Communications

Bagdany, Miklos M; Veit, Guido G; Fukuda, Ryosuke R; Avramescu, Radu G RG; Okiyoneda, Tsukasa T; Baaklini, Imad I; Singh, Jay J; Sovak, Guy G; Xu, Haijin H; Apaja, Pirjo M PM; Sattin, Sara S; Beitel, Lenore K LK; Roldan, Ariel A; Colombo, Giorgio G; Balch, William W; Young, Jason C JC; Lukacs, Gergely L GL

Publication Date: 2017-08-30

Variant appearance in text: CFTR: R553Q

PubMed Link: 28855508

Variant Present in the following documents:

• 41467_2017_444_MOESM1_ESM.pdf

View BVdb publication page

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Non-native Conformers of Cystic Fibrosis Transmembrane Conductance Regulator NBD1 Are Recognized by Hsp27 and Conjugated to SUMO-2 for Degradation.

The Journal Of Biological Chemistry

Gong, Xiaoyan X; Ahner, Annette A; Roldan, Ariel A; Lukacs, Gergely L GL; Thibodeau, Patrick H PH; Frizzell, Raymond A RA

Publication Date: 2016-01-22

Variant appearance in text: CFTR: R553Q

PubMed Link: 26627832

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: R553Q

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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Deletion of Phenylalanine 508 in the First Nucleotide-binding Domain of the Cystic Fibrosis Transmembrane Conductance Regulator Increases Conformational Exchange and Inhibits Dimerization.

The Journal Of Biological Chemistry

Chong, P Andrew PA; Farber, Patrick J PJ; Vernon, Robert M RM; Hudson, Rhea P RP; Mittermaier, Anthony K AK; Forman-Kay, Julie D JD

Publication Date: 2015-09-18

Variant appearance in text: CFTR: R553Q

PubMed Link: 26149808

Variant Present in the following documents:

• Main text

View BVdb publication page

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Some gating potentiators, including VX-770, diminish ΔF508-CFTR functional expression.

Science Translational Medicine

Veit, Guido G; Avramescu, Radu G RG; Perdomo, Doranda D; Phuan, Puay-Wah PW; Bagdany, Miklos M; Apaja, Pirjo M PM; Borot, Florence F; Szollosi, Daniel D; Wu, Yu-Sheng YS; Finkbeiner, Walter E WE; Hegedus, Tamas T; Verkman, Alan S AS; Lukacs, Gergely L GL

Publication Date: 2014-07-23

Variant appearance in text: CFTR: R553Q

PubMed Link: 25101887

Variant Present in the following documents:

• Main text

View BVdb publication page

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Restoration of NBD1 thermal stability is necessary and sufficient to correct ∆F508 CFTR folding and assembly.

Journal Of Molecular Biology

He, Lihua L; Aleksandrov, Andrei A AA; An, Jianli J; Cui, Liying L; Yang, Zhengrong Z; Brouillette, Christie G CG; Riordan, John R JR

Publication Date: 2015-01-16

Variant appearance in text: CFTR: R553Q

PubMed Link: 25083918

Variant Present in the following documents:

• Main text

View BVdb publication page

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Complement yourself: Transcomplementation rescues partially folded mutant proteins.

Biophysical Reviews

Cebotaru, Liudmila L; Guggino, William B WB

Publication Date: 2014-03-01

Variant appearance in text: CFTR: R553Q

PubMed Link: 24949105

Variant Present in the following documents:

• Main text

View BVdb publication page

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Bithiazole correctors rescue CFTR mutants by two different mechanisms.

Biochemistry

Loo, Tip W TW; Bartlett, M Claire MC; Clarke, David M DM

Publication Date: 2013-08-06

Variant appearance in text: CFTR: R553Q

PubMed Link: 23865422

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mechanism-based corrector combination restores ΔF508-CFTR folding and function.

Nature Chemical Biology

Okiyoneda, Tsukasa T; Veit, Guido G; Dekkers, Johanna F JF; Bagdany, Miklos M; Soya, Naoto N; Xu, Haijin H; Roldan, Ariel A; Verkman, Alan S AS; Kurth, Mark M; Simon, Agnes A; Hegedus, Tamas T; Beekman, Jeffrey M JM; Lukacs, Gergely L GL

Publication Date: 2013-07

Variant appearance in text: CFTR: R553Q

PubMed Link: 23666117

Variant Present in the following documents:

• Main text

View BVdb publication page

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Dynamics intrinsic to cystic fibrosis transmembrane conductance regulator function and stability.

Cold Spring Harbor Perspectives In Medicine

Chong, P Andrew PA; Kota, Pradeep P; Dokholyan, Nikolay V NV; Forman-Kay, Julie D JD

Publication Date: 2013-03-01

Variant appearance in text: CFTR: R553Q

PubMed Link: 23457292

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cystic fibrosis transmembrane conductance regulator (ABCC7) structure.

Cold Spring Harbor Perspectives In Medicine

Hunt, John F JF; Wang, Chi C; Ford, Robert C RC

Publication Date: 2013-02-01

Variant appearance in text: CFTR: R553Q

PubMed Link: 23378596

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mechanisms of CFTR Folding at the Endoplasmic Reticulum.

Frontiers In Pharmacology

Kim, Soo Jung SJ; Skach, William R WR

Publication Date: 2012

Variant appearance in text: CFTR: R553Q

PubMed Link: 23248597

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional Rescue of F508del-CFTR Using Small Molecule Correctors.

Frontiers In Pharmacology

Molinski, Steven S; Eckford, Paul D W PD; Pasyk, Stan S; Ahmadi, Saumel S; Chin, Stephanie S; Bear, Christine E CE

Publication Date: 2012

Variant appearance in text: CFTR: R553Q

PubMed Link: 23055971

Variant Present in the following documents:

• Main text
• fphar-03-00160.pdf

View BVdb publication page

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Requirements for efficient correction of ΔF508 CFTR revealed by analyses of evolved sequences.

Cell

Mendoza, Juan L JL; Schmidt, André A; Li, Qin Q; Nuvaga, Emmanuel E; Barrett, Tyler T; Bridges, Robert J RJ; Feranchak, Andrew P AP; Brautigam, Chad A CA; Thomas, Philip J PJ

Publication Date: 2012-01-20

Variant appearance in text: CFTR: R553Q

PubMed Link: 22265409

Variant Present in the following documents:

• Main text

View BVdb publication page

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Correction of both NBD1 energetics and domain interface is required to restore ΔF508 CFTR folding and function.

Cell

Rabeh, Wael M WM; Bossard, Florian F; Xu, Haijin H; Okiyoneda, Tsukasa T; Bagdany, Miklos M; Mulvihill, Cory M CM; Du, Kai K; di Bernardo, Salvatore S; Liu, Yuhong Y; Konermann, Lars L; Roldan, Ariel A; Lukacs, Gergely L GL

Publication Date: 2012-01-20

Variant appearance in text: CFTR: R553Q

PubMed Link: 22265408

Variant Present in the following documents:

• Main text

View BVdb publication page

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Biochemical and biophysical approaches to probe CFTR structure.

Methods In Molecular Biology (Clifton, N.J.)

Schmidt, André A; Mendoza, Juan L JL; Thomas, Philip J PJ

Publication Date: 2011

Variant appearance in text: CFTR: R553Q

PubMed Link: 21594797

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated biophysical studies implicate partial unfolding of NBD1 of CFTR in the molecular pathogenesis of F508del cystic fibrosis.

Protein Science : A Publication Of The Protein Society

Wang, Chi C; Protasevich, Irina I; Yang, Zhengrong Z; Seehausen, Derek D; Skalak, Timothy T; Zhao, Xun X; Atwell, Shane S; Spencer Emtage, J J; Wetmore, Diana R DR; Brouillette, Christie G CG; Hunt, John F JF

Publication Date: 2010-10

Variant appearance in text: CFTR: R553Q

PubMed Link: 20687163

Variant Present in the following documents:

• Main text

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Thermal unfolding studies show the disease causing F508del mutation in CFTR thermodynamically destabilizes nucleotide-binding domain 1.

Protein Science : A Publication Of The Protein Society

Protasevich, Irina I; Yang, Zhengrong Z; Wang, Chi C; Atwell, Shane S; Zhao, Xun X; Emtage, Spencer S; Wetmore, Diana D; Hunt, John F JF; Brouillette, Christie G CG

Publication Date: 2010-10

Variant appearance in text: CFTR: R553Q

PubMed Link: 20687133

Variant Present in the following documents:

• Main text

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The cystic fibrosis-causing mutation deltaF508 affects multiple steps in cystic fibrosis transmembrane conductance regulator biogenesis.

The Journal Of Biological Chemistry

Thibodeau, Patrick H PH; Richardson, John M JM; Wang, Wei W; Millen, Linda L; Watson, Jarod J; Mendoza, Juan L JL; Du, Kai K; Fischman, Sharon S; Senderowitz, Hanoch H; Lukacs, Gergely L GL; Kirk, Kevin K; Thomas, Philip J PJ

Publication Date: 2010-11-12

Variant appearance in text: CFTR: R553Q

PubMed Link: 20667826

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: CFTR: R553Q

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 5

View BVdb publication page

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Diminished self-chaperoning activity of the DeltaF508 mutant of CFTR results in protein misfolding.

Plos Computational Biology

Serohijos, Adrian W R AW; Hegedus, Tamás T; Riordan, John R JR; Dokholyan, Nikolay V NV

Publication Date: 2008-02-29

Variant appearance in text: CFTR: R553Q

PubMed Link: 18463704

Variant Present in the following documents:

• Main text
• pcbi.1000008.pdf

View BVdb publication page

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Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

The Journal Of Molecular Diagnostics : Jmd

Schrijver, Iris I; Oitmaa, Eneli E; Metspalu, Andres A; Gardner, Phyllis P

Publication Date: 2005-08

Variant appearance in text: CFTR: R553Q

PubMed Link: 16049310

Variant Present in the following documents:

• Main text

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Side chain and backbone contributions of Phe508 to CFTR folding.

Nature Structural & Molecular Biology

Thibodeau, Patrick H PH; Brautigam, Chad A CA; Machius, Mischa M; Thomas, Philip J PJ

Publication Date: 2005-01

Variant appearance in text: CFTR: R553Q

PubMed Link: 15619636

Variant Present in the following documents:

• Main text

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Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

Bmc Medical Genetics

Claustres, Mireille M; Altiéri, Jean-Pierre JP; Guittard, Caroline C; Templin, Carine C; Chevalier-Porst, Françoise F; Des Georges, Marie M

Publication Date: 2004-08-02

Variant appearance in text: CFTR: R553Q

PubMed Link: 15287992

Variant Present in the following documents:

• Main text
• 1471-2350-5-19.pdf

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Lung infections associated with cystic fibrosis.

Clinical Microbiology Reviews

Lyczak, Jeffrey B JB; Cannon, Carolyn L CL; Pier, Gerald B GB

Publication Date: 2002-04

Variant appearance in text: CFTR: R553Q

PubMed Link: 11932230

Variant Present in the following documents:

• Main text

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