Publications:

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Redefining Hypo- and Hyper-Responding Phenotypes of CFTR Mutants for Understanding and Therapy.

International Journal Of Molecular Sciences

Hillenaar, Tamara T; Beekman, Jeffrey J; van der Sluijs, Peter P; Braakman, Ineke I

Publication Date: 2022-12-02

Variant appearance in text: CFTR: S1235R

PubMed Link: 36499495

Variant Present in the following documents:

• ijms-23-15170.pdf

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Drug treatment of cystic fibrosis.

Australian Prescriber

Bruorton, Matthew M; Goddard, Thomas T

Publication Date: 2022-10

Variant appearance in text: CFTR: S1235R

PubMed Link: 36382177

Variant Present in the following documents:

• Main text
• austprescr-45-171.pdf

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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: S1235R

PubMed Link: 36264955

Variant Present in the following documents:

• Main text
• pone.0276397.pdf

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Advances in Preclinical In Vitro Models for the Translation of Precision Medicine for Cystic Fibrosis.

Journal Of Personalized Medicine

Silva, Iris A L IAL; Laselva, Onofrio O; Lopes-Pacheco, Miquéias M

Publication Date: 2022-08-16

Variant appearance in text: CFTR: S1235R

PubMed Link: 36013270

Variant Present in the following documents:

• jpm-12-01321.pdf

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One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies.

Cells

Ensinck, Marjolein M MM; Carlon, Marianne S MS

Publication Date: 2022-06-08

Variant appearance in text: CFTR: S1235R

PubMed Link: 35740997

Variant Present in the following documents:

• cells-11-01868.pdf

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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: S1235R

PubMed Link: 35585144

Variant Present in the following documents:

• 42003_2022_3457_MOESM1_ESM.pdf

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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: S1235R

PubMed Link: 35418593

Variant Present in the following documents:

• 42003_2022_Article_3302.pdf

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Bicarbonate Transport in Cystic Fibrosis and Pancreatitis.

Cells

Angyal, Dora D; Bijvelds, Marcel J C MJC; Bruno, Marco J MJ; Peppelenbosch, Maikel P MP; de Jonge, Hugo R HR

Publication Date: 2021-12-24

Variant appearance in text: CFTR: S1235R

PubMed Link: 35011616

Variant Present in the following documents:

• Main text
• cells-11-00054.pdf

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Bicarbonate Transport in Cystic Fibrosis and Pancreatitis.

Cells

Angyal, Dora D; Bijvelds, Marcel J C MJC; Bruno, Marco J MJ; Peppelenbosch, Maikel P MP; de Jonge, Hugo R HR

Publication Date: 2021-12-24

Variant appearance in text: CFTR: S1235R

PubMed Link: 35011616

Variant Present in the following documents:

• Main text
• cells-11-00054.pdf

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Pharmacological Modulation of Ion Channels for the Treatment of Cystic Fibrosis.

Journal Of Experimental Pharmacology

Pinto, Madalena C MC; Silva, Iris A L IAL; Figueira, Miriam F MF; Amaral, Margarida D MD; Lopes-Pacheco, Miquéias M

Publication Date: 2021

Variant appearance in text: CFTR: S1235R

PubMed Link: 34326672

Variant Present in the following documents:

• jep-13-693.pdf

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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: S1235R

PubMed Link: 33572515

Variant Present in the following documents:

• Main text
• genes-12-00206.pdf

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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: S1235R

PubMed Link: 33282281

Variant Present in the following documents:

• Main text
• mrm-15-1-690.pdf

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Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Plos One

Ivey, Gabrianne G; Youker, Robert T RT

Publication Date: 2020

Variant appearance in text: CFTR: S1235R

PubMed Link: 31978131

Variant Present in the following documents:

• Main text
• pone.0227668.pdf

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A new role for heat shock factor 27 in the pathophysiology of Clostridium difficile toxin B.

American Journal Of Physiology. Gastrointestinal And Liver Physiology

Yanda, Murali K MK; Guggino, William B WB; Cebotaru, Liudmila L

Publication Date: 2020-01-01

Variant appearance in text: CFTR: S1235R

PubMed Link: 31709831

Variant Present in the following documents:

• Main text

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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: S1235R

PubMed Link: 30134164

Variant Present in the following documents:

• NIHMS986613-supplement-1.pdf

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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: S1235R

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.pdf

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Combination of Correctors Rescues CFTR Transmembrane-Domain Mutants by Mitigating their Interactions with Proteostasis.

Cellular Physiology And Biochemistry : International Journal Of Experimental Cellular Physiology, Biochemistry, And Pharmacology

Lopes-Pacheco, Miquéias M; Boinot, Clément C; Sabirzhanova, Inna I; Rapino, Daniele D; Cebotaru, Liudmila L

Publication Date: 2017

Variant appearance in text: CFTR: S1235R

PubMed Link: 28448979

Variant Present in the following documents:

• nihms-1563253.pdf

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CFTR Modulators: Shedding Light on Precision Medicine for Cystic Fibrosis.

Frontiers In Pharmacology

Lopes-Pacheco, Miquéias M

Publication Date: 2016

Variant appearance in text: CFTR: S1235R

PubMed Link: 27656143

Variant Present in the following documents:

• Main text
• fphar-07-00275.pdf

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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: S1235R

PubMed Link: 27171182

Variant Present in the following documents:

• Main text

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Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.

Plos Genetics

LaRusch, Jessica J; Jung, Jinsei J; General, Ignacio J IJ; Lewis, Michele D MD; Park, Hyun Woo HW; Brand, Randall E RE; Gelrud, Andres A; Anderson, Michelle A MA; Banks, Peter A PA; Conwell, Darwin D; Lawrence, Christopher C; Romagnuolo, Joseph J; Baillie, John J; Alkaade, Samer S; Cote, Gregory G; Gardner, Timothy B TB; Amann, Stephen T ST; Slivka, Adam A; Sandhu, Bimaljit B; Aloe, Amy A; Kienholz, Michelle L ML; Yadav, Dhiraj D; Barmada, M Michael MM; Bahar, Ivet I; Lee, Min Goo MG; Whitcomb, David C DC; ,

Publication Date: 2014-07

Variant appearance in text: CFTR: S1235R

PubMed Link: 25033378

Variant Present in the following documents:

• Main text
• pgen.1004376.pdf

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An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

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

Lazarin, Gabriel A GA; Haque, Imran S IS; Nazareth, Shivani S; Iori, Kevin K; Patterson, A Scott AS; Jacobson, Jessica L JL; Marshall, John R JR; Seltzer, William K WK; Patrizio, Pasquale P; Evans, Eric A EA; Srinivasan, Balaji S BS

Publication Date: 2013-03

Variant appearance in text: CFTR: S1235R

PubMed Link: 22975760

Variant Present in the following documents:

• gim2012114x1.pdf

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Development of genomic reference materials for cystic fibrosis genetic testing.

The Journal Of Molecular Diagnostics : Jmd

Pratt, Victoria M VM; Caggana, Michele M; Bridges, Christina C; Buller, Arlene M AM; DiAntonio, Lisa L; Highsmith, W Edward WE; Holtegaard, Leonard M LM; Muralidharan, Kasinathan K; Rohlfs, Elizabeth M EM; Tarleton, Jack J; Toji, Lorraine L; Barker, Shannon D SD; Kalman, Lisa V LV

Publication Date: 2009-05

Variant appearance in text: CFTR: 3703A>C; S1235R

PubMed Link: 19359498

Variant Present in the following documents:

• Main text

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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: S1235R

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 4
• gkn1008_nar-01723-s-2008-File009.xls, sheet 1

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Pulmonary nontuberculous mycobacterial disease: prospective study of a distinct preexisting syndrome.

American Journal Of Respiratory And Critical Care Medicine

Kim, Richard D RD; Greenberg, David E DE; Ehrmantraut, Mary E ME; Guide, Shireen V SV; Ding, Li L; Shea, Yvonne Y; Brown, Margaret R MR; Chernick, Milica M; Steagall, Wendy K WK; Glasgow, Connie G CG; Lin, JingPing J; Jolley, Clara C; Sorbara, Lynn L; Raffeld, Mark M; Hill, Suvimol S; Avila, Nilo N; Sachdev, Vandana V; Barnhart, Lisa A LA; Anderson, Victoria L VL; Claypool, Reginald R; Hilligoss, Dianne M DM; Garofalo, Mary M; Fitzgerald, Alan A; Anaya-O'Brien, Sandra S; Darnell, Dirk D; DeCastro, Rosamma R; Menning, Heather M HM; Ricklefs, Stacy M SM; Porcella, Stephen F SF; Olivier, Kenneth N KN; Moss, Joel J; Holland, Steven M SM

Publication Date: 2008-11-15

Variant appearance in text: CFTR: S1235R

PubMed Link: 18703788

Variant Present in the following documents:

• Main text

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