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: 1721C>A; Pro574His

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Sweat Proteomics in Cystic Fibrosis: Discovering Companion Biomarkers for Precision Medicine and Therapeutic Development.

Cells

Burat, Bastien B; Reynaerts, Audrey A; Baiwir, Dominique D; Fléron, Maximilien M; Gohy, Sophie S; Eppe, Gauthier G; Leal, Teresinha T; Mazzucchelli, Gabriel G

Publication Date: 2022-07-31

Variant appearance in text: CFTR: P574H

PubMed Link: 35954202

Variant Present in the following documents:

• cells-11-02358.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: P574H

PubMed Link: 35652053

Variant Present in the following documents:

• Main text
• fped-10-881470.pdf

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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: 1721C>A; P574H

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM3_ESM.xls, sheet 1

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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: rs121908758

PubMed Link: 34541464

Variant Present in the following documents:

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

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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: 1721C>A; Pro574His; rs121908758

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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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: P574H

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Discovery of a picomolar potency pharmacological corrector of the mutant CFTR chloride channel.

Science Advances

Pedemonte, Nicoletta N; Bertozzi, Fabio F; Caci, Emanuela E; Sorana, Federico F; Di Fruscia, Paolo P; Tomati, Valeria V; Ferrera, Loretta L; Rodríguez-Gimeno, Alejandra A; Berti, Francesco F; Pesce, Emanuela E; Sondo, Elvira E; Gianotti, Ambra A; Scudieri, Paolo P; Bandiera, Tiziano T; Galietta, Luis J V LJV

Publication Date: 2020-02

Variant appearance in text: CFTR: P574H

PubMed Link: 32128418

Variant Present in the following documents:

• Main text
• aay9669_SM.pdf
• aay9669.pdf

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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: 1721C>A; P574H

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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Positional effects of premature termination codons on the biochemical and biophysical properties of CFTR.

The Journal Of Physiology

Yeh, Jiunn-Tyng JT; Hwang, Tzyh-Chang TC

Publication Date: 2020-02

Variant appearance in text: CFTR: P574H

PubMed Link: 31585024

Variant Present in the following documents:

• Main text

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Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.

American Journal Of Human Genetics

Raraigh, Karen S KS; Han, Sangwoo T ST; Davis, Emily E; Evans, Taylor A TA; Pellicore, Matthew J MJ; McCague, Allison F AF; Joynt, Anya T AT; Lu, Zhongzhou Z; Atalar, Melis M; Sharma, Neeraj N; Sheridan, Molly B MB; Sosnay, Patrick R PR; Cutting, Garry R GR

Publication Date: 2018-06-07

Variant appearance in text: CFTR: 1721C>A; Pro574His

PubMed Link: 29805046

Variant Present in the following documents:

• Main text

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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: 1721C>A; Pro574His; rs121908758

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

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What can the CF registry tell us about rare CFTR-mutations? A Belgian study.

Orphanet Journal Of Rare Diseases

De Wachter, E E; Thomas, M M; Wanyama, S S SS; Seneca, S S; Malfroot, A A

Publication Date: 2017-08-22

Variant appearance in text: CFTR: P574H

PubMed Link: 28830496

Variant Present in the following documents:

• Main text
• 13023_2017_Article_694.pdf

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Understanding the Entanglement: Neutrophil Extracellular Traps (NETs) in Cystic Fibrosis.

Frontiers In Cellular And Infection Microbiology

Martínez-Alemán, Saira R SR; Campos-García, Lizbeth L; Palma-Nicolas, José P JP; Hernández-Bello, Romel R; González, Gloria M GM; Sánchez-González, Alejandro A

Publication Date: 2017

Variant appearance in text: CFTR: P574H

PubMed Link: 28428948

Variant Present in the following documents:

• Main text
• fcimb-07-00104.pdf

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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: P574H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Curcumin and genistein: the combined effects on disease-associated CFTR mutants and their clinical implications.

Current Pharmaceutical Design

Sohma, Yoshiro Y; Yu, Ying-Chun YC; Hwang, Tzyh-Chang TC

Publication Date: 2013

Variant appearance in text: CFTR: P574H

PubMed Link: 23331029

Variant Present in the following documents:

• Main text

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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: P574H

PubMed Link: 22975760

Variant Present in the following documents:

• gim2012114x1.pdf

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Application of high-resolution single-channel recording to functional studies of cystic fibrosis mutants.

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

Cai, Zhiwei Z; Sohma, Yoshiro Y; Bompadre, Silvia G SG; Sheppard, David N DN; Hwang, Tzyh-Chang TC

Publication Date: 2011

Variant appearance in text: CFTR: P574H

PubMed Link: 21594800

Variant Present in the following documents:

• Main text

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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: P574H

PubMed Link: 20932301

Variant Present in the following documents:

• Main text
• 1465-9921-11-140.pdf

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The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.

The Journal Of Molecular Diagnostics : Jmd

Farkas, Daniel H DH; Miltgen, Nicholas E NE; Stoerker, Jay J; van den Boom, Dirk D; Highsmith, W Edward WE; Cagasan, Lesley L; McCullough, Ron R; Mueller, Reinhold R; Tang, Lin L; Tynan, John J; Tate, Courtney C; Bombard, Allan A

Publication Date: 2010-09

Variant appearance in text: CFTR: 1721C>A; P574H

PubMed Link: 20616359

Variant Present in the following documents:

• Main text

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Folding and rescue of a cystic fibrosis transmembrane conductance regulator trafficking mutant identified using human-murine chimeric proteins.

The Journal Of Biological Chemistry

Da Paula, Ana Carina AC; Sousa, Marisa M; Xu, Zhe Z; Dawson, Elizabeth S ES; Boyd, A Christopher AC; Sheppard, David N DN; Amaral, Margarida D MD

Publication Date: 2010-08-27

Variant appearance in text: CFTR: P574H

PubMed Link: 20551307

Variant Present in the following documents:

• Main text

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Direct sensing of intracellular pH by the cystic fibrosis transmembrane conductance regulator (CFTR) Cl- channel.

The Journal Of Biological Chemistry

Chen, Jeng-Haur JH; Cai, Zhiwei Z; Sheppard, David N DN

Publication Date: 2009-12-18

Variant appearance in text: CFTR: P574H

PubMed Link: 19837660

Variant Present in the following documents:

• Main text

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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: 1721C>A; P574H

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: P574H

PubMed Link: 19139070

Variant Present in the following documents:

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

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The role of the UPS in cystic fibrosis.

Bmc Biochemistry

Turnbull, Emma L EL; Rosser, Meredith F N MF; Cyr, Douglas M DM

Publication Date: 2007-11-22

Variant appearance in text: CFTR: P574H

PubMed Link: 18047735

Variant Present in the following documents:

• Main text
• 1471-2091-8-S1-S11.pdf

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Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.

American Journal Of Respiratory And Critical Care Medicine

Wilschanski, Michael M; Dupuis, Annie A; Ellis, Lynda L; Jarvi, Keith K; Zielenski, Julian J; Tullis, Elizabeth E; Martin, Sheelagh S; Corey, Mary M; Tsui, Lap-Chee LC; Durie, Peter P

Publication Date: 2006-10-01

Variant appearance in text: CFTR: P574H

PubMed Link: 16840743

Variant Present in the following documents:

• Main text

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The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era.

The Clinical Biochemist. Reviews

Mishra, Avantika A; Greaves, Ronda R; Massie, John J

Publication Date: 2005-11

Variant appearance in text: CFTR: P574H

PubMed Link: 16648884

Variant Present in the following documents:

• Main text

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Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening.

The Journal Of Clinical Investigation

Pedemonte, Nicoletta N; Lukacs, Gergely L GL; Du, Kai K; Caci, Emanuela E; Zegarra-Moran, Olga O; Galietta, Luis J V LJ; Verkman, A S AS

Publication Date: 2005-09

Variant appearance in text: CFTR: P574H

PubMed Link: 16127463

Variant Present in the following documents:

• Main text

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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: P574H

PubMed Link: 16049310

Variant Present in the following documents:

• Main text

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Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

The Journal Of Molecular Diagnostics : Jmd

Schrijver, Iris I; Ramalingam, Sudha S; Sankaran, Ramalingam R; Swanson, Steve S; Dunlop, Charles L M CL; Keiles, Steven S; Moss, Richard B RB; Oehlert, John J; Gardner, Phyllis P; Wassman, E Robert ER; Kammesheidt, Anja A

Publication Date: 2005-05

Variant appearance in text: CFTR: P574H

PubMed Link: 15858154

Variant Present in the following documents:

• Main text

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COPII-dependent export of cystic fibrosis transmembrane conductance regulator from the ER uses a di-acidic exit code.

The Journal Of Cell Biology

Wang, Xiaodong X; Matteson, Jeanne J; An, Yu Y; Moyer, Bryan B; Yoo, Jin-San JS; Bannykh, Sergei S; Wilson, Ian A IA; Riordan, John R JR; Balch, William E WE

Publication Date: 2004-10-11

Variant appearance in text: CFTR: P574H

PubMed Link: 15479737

Variant Present in the following documents:

• 200401035.pdf

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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: P574H

PubMed Link: 12865275

Variant Present in the following documents:

• Main text

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