Publications:

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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: 38C>T; Ser13Phe

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: S13F

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.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: S13F

PubMed Link: 35652053

Variant Present in the following documents:

• Main text
• fped-10-881470.pdf

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Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Iscience

Wong, Sharon L SL; Awatade, Nikhil T NT; Astore, Miro A MA; Allan, Katelin M KM; Carnell, Michael J MJ; Slapetova, Iveta I; Chen, Po-Chia PC; Capraro, Alexander A; Fawcett, Laura K LK; Whan, Renee M RM; Griffith, Renate R; Ooi, Chee Y CY; Kuyucak, Serdar S; Jaffe, Adam A; Waters, Shafagh A SA

Publication Date: 2022-01-21

Variant appearance in text: CFTR: 38C>T; S13F

PubMed Link: 35072004

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Lipid-driven CFTR clustering is impaired in cystic fibrosis and restored by corrector drugs.

Journal Of Cell Science

Abu-Arish, Asmahan A; Pandžić, Elvis E; Luo, Yishan Y; Sato, Yukiko Y; Turner, Mark J MJ; Wiseman, Paul W PW; Hanrahan, John W JW

Publication Date: 2022-03-01

Variant appearance in text: CFTR: S13F

PubMed Link: 35060604

Variant Present in the following documents:

• Main text
• joces-135-259002_review_history.pdf
• joces-135-259002-s1.pdf

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A Precision Medicine Approach to Optimize Modulator Therapy for Rare CFTR Folding Mutants.

Journal Of Personalized Medicine

Veit, Guido G; Velkov, Tony T; Xu, Haijin H; Vadeboncoeur, Nathalie N; Bilodeau, Lara L; Matouk, Elias E; Lukacs, Gergely L GL

Publication Date: 2021-07-07

Variant appearance in text: CFTR: S13F

PubMed Link: 34357110

Variant Present in the following documents:

• Main text
• jpm-11-00643.pdf

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Allosteric folding correction of F508del and rare CFTR mutants by elexacaftor-tezacaftor-ivacaftor (Trikafta) combination.

Jci Insight

Veit, Guido G; Roldan, Ariel A; Hancock, Mark A MA; Da Fonte, Dillon F DF; Xu, Haijin H; Hussein, Maytham M; Frenkiel, Saul S; Matouk, Elias E; Velkov, Tony T; Lukacs, Gergely L GL

Publication Date: 2020-09-17

Variant appearance in text: CFTR: S13F

PubMed Link: 32853178

Variant Present in the following documents:

• Main text
• jciinsight-5-139983-s205.pdf
• jciinsight-5-139983.pdf

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: CFTR: S13F

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM8_ESM.xlsx, sheet 2

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Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.

Molecular Genetics & Genomic Medicine

Petrova, Guergana G; Yaneva, Nadezhda N; Hrbková, Jana J; Libik, Malgorzata M; Savov, Alexey A; Macek, Milan M

Publication Date: 2019-08

Variant appearance in text: CFTR: 38C>T; Ser13Phe

PubMed Link: 31245908

Variant Present in the following documents:

• Main text
• MGG3-7-e696.pdf

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Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.

Orphanet Journal Of Rare Diseases

Najafi, Maryam M; Kordi-Tamandani, Dor Mohammad DM; Behjati, Farkhondeh F; Sadeghi-Bojd, Simin S; Bakey, Zeineb Z; Karimiani, Ehsan Ghayoor EG; Schüle, Isabel I; Azarfar, Anoush A; Schmidts, Miriam M

Publication Date: 2019-02-13

Variant appearance in text: CFTR: S13F

PubMed Link: 30760291

Variant Present in the following documents:

• Main text
• 13023_2018_Article_981.pdf

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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: S13F

PubMed Link: 30319426

Variant Present in the following documents:

• Main text
• fphar-09-01100.pdf

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Premature termination codon readthrough in human cells occurs in novel cytoplasmic foci and requires UPF proteins.

Journal Of Cell Science

Jia, Jieshuang J; Werkmeister, Elisabeth E; Gonzalez-Hilarion, Sara S; Leroy, Catherine C; Gruenert, Dieter C DC; Lafont, Frank F; Tulasne, David D; Lejeune, Fabrice F

Publication Date: 2017-09-15

Variant appearance in text: CFTR: S13F

PubMed Link: 28743738

Variant Present in the following documents:

• Main text

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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: S13F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Reduced PDZ interactions of rescued ΔF508CFTR increases its cell surface mobility.

The Journal Of Biological Chemistry

Valentine, Cathleen D CD; Lukacs, Gergely L GL; Verkman, Alan S AS; Haggie, Peter M PM

Publication Date: 2012-12-21

Variant appearance in text: CFTR: S13F

PubMed Link: 23115232

Variant Present in the following documents:

• Main text

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Protein biomarkers in cystic fibrosis research: where next?

Genome Medicine

Pattison, Sally H SH; Elborn, J Stuart JS

Publication Date: 2010-12-16

Variant appearance in text: CFTR: S13F

PubMed Link: 21167082

Variant Present in the following documents:

• Main text

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Applications of proteomic technologies for understanding the premature proteolysis of CFTR.

Expert Review Of Proteomics

Henderson, Mark J MJ; Singh, Om V OV; Zeitlin, Pamela L PL

Publication Date: 2010-08

Variant appearance in text: CFTR: S13F

PubMed Link: 20653504

Variant Present in the following documents:

• Main text

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Biochemical basis of the interaction between cystic fibrosis transmembrane conductance regulator and immunoglobulin-like repeats of filamin.

The Journal Of Biological Chemistry

Smith, Laura L; Page, Richard C RC; Xu, Zhen Z; Kohli, Ekta E; Litman, Paul P; Nix, Jay C JC; Ithychanda, Sujay S SS; Liu, Jianmin J; Qin, Jun J; Misra, Saurav S; Liedtke, Carole M CM

Publication Date: 2010-05-28

Variant appearance in text: CFTR: S13F

PubMed Link: 20351101

Variant Present in the following documents:

• Main text

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Cystic fibrosis transmembrane conductance regulator interacts with multiple immunoglobulin domains of filamin A.

The Journal Of Biological Chemistry

Playford, Martin P MP; Nurminen, Elisa E; Pentikäinen, Olli T OT; Milgram, Sharon L SL; Hartwig, John H JH; Stossel, Thomas P TP; Nakamura, Fumihiko F

Publication Date: 2010-05-28

Variant appearance in text: CFTR: S13F

PubMed Link: 20351098

Variant Present in the following documents:

• Main text

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Direct interaction with filamins modulates the stability and plasma membrane expression of CFTR.

The Journal Of Clinical Investigation

Thelin, William R WR; Chen, Yun Y; Gentzsch, Martina M; Kreda, Silvia M SM; Sallee, Jennifer L JL; Scarlett, Cameron O CO; Borchers, Christoph H CH; Jacobson, Ken K; Stutts, M Jackson MJ; Milgram, Sharon L SL

Publication Date: 2007-02

Variant appearance in text: CFTR: S13F

PubMed Link: 17235394

Variant Present in the following documents:

• Main text

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