Publications:

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Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.

Molecular Medicine (Cambridge, Mass.)

Tavano, Francesca F; Gioffreda, Domenica D; Fontana, Andrea A; Palmieri, Orazio O; Gentile, Annamaria A; Latiano, Tiziana T; Latiano, Anna A; Latiano, Tiziana Pia TP; Scaramuzzi, Matteo M; Maiello, Evaristo E; Bazzocchi, Francesca F; Perri, Francesco F

Publication Date: 2023-01-30

Variant appearance in text: CFTR: 1684G>A; Val562Ile

PubMed Link: 36717774

Variant Present in the following documents:

• 10020_2023_600_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: V562I

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

View BVdb publication page

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Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes.

Cells

Baldassarri, Margherita M; Zguro, Kristina K; Tomati, Valeria V; Pastorino, Cristina C; Fava, Francesca F; Croci, Susanna S; Bruttini, Mirella M; Picchiotti, Nicola N; Furini, Simone S; Gen-Covid Multicenter Study, ; Pedemonte, Nicoletta N; Gabbi, Chiara C; Renieri, Alessandra A; Fallerini, Chiara C

Publication Date: 2022-12-16

Variant appearance in text: CFTR: V562I

PubMed Link: 36552859

Variant Present in the following documents:

• Main text
• cells-11-04096.pdf

View BVdb publication page

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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: V562I

PubMed Link: 35652053

Variant Present in the following documents:

• Main text
• fped-10-881470.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: rs1800097

PubMed Link: 34541464

Variant Present in the following documents:

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

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Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?

Genes

Mekki, Chadia C; Aissat, Abdel A; Mirlesse, Véronique V; Mayer Lacrosniere, Sophie S; Eche, Elsa E; Le Floch, Annick A; Whalen, Sandra S; Prud'Homme, Cecile C; Remus, Christelle C; Funalot, Benoit B; Castaigne, Vanina V; Fanen, Pascale P; de Becdelièvre, Alix A

Publication Date: 2021-04-29

Variant appearance in text: CFTR: Val562Ile; rs1800097

PubMed Link: 33946859

Variant Present in the following documents:

• Main text

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: V562I

PubMed Link: 33922413

Variant Present in the following documents:

• Main text

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: V562I

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: CFTR: 1684G>A; Val562Ile

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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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: 1684G>A; Val562Ile

PubMed Link: 29805046

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: V562I

PubMed Link: 29124052

Variant Present in the following documents:

• Main text
• fped-05-00222.pdf

View BVdb publication page

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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: V562I

PubMed Link: 28830496

Variant Present in the following documents:

• Main text
• 13023_2017_Article_694.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CFTR: 1684G>A; Val562Ile

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis.

Plos One

Pagin, Adrien A; Devos, Aurore A; Figeac, Martin M; Truant, Maryse M; Willoquaux, Christelle C; Broly, Franck F; Lalau, Guy G

Publication Date: 2016

Variant appearance in text: CFTR: 1684G>A; V562I

PubMed Link: 26900683

Variant Present in the following documents:

• Main text
• pone.0149426.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: rs1800097

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

Molecular Genetics & Genomic Medicine

Trujillano, Daniel D; Weiss, Maximilian E R ME; Köster, Julia J; Papachristos, Efstathios B EB; Werber, Martin M; Kandaswamy, Krishna Kumar KK; Marais, Anett A; Eichler, Sabrina S; Creed, Jenny J; Baysal, Erol E; Jaber, Iqbal Yousuf IY; Mehaney, Dina Ahmed DA; Farra, Chantal C; Rolfs, Arndt A

Publication Date: 2015-09

Variant appearance in text: CFTR: 1684G>A; V562I; rs1800097

PubMed Link: 26436105

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: V562I

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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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: Val562Ile

PubMed Link: 25910067

Variant Present in the following documents:

• Main text

View BVdb publication page

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Nasal potential difference in cystic fibrosis considering severe CFTR mutations.

Disease Markers

Ng, Ronny Tah Yen RT; Marson, Fernando Augusto de Lima FA; Ribeiro, Jose Dirceu JD; Ribeiro, Antonio Fernando AF; Bertuzzo, Carmen Silvia CS; Ribeiro, Maria Angela Gonçalves de Oliveira MA; Severino, Silvana Dalge SD; Sakano, Eulalia E

Publication Date: 2015

Variant appearance in text: CFTR: 1684G>A; Val562Ile

PubMed Link: 25667564

Variant Present in the following documents:

• Main text
• DM2015-306825.pdf

View BVdb publication page

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Revertant mutants modify, but do not rescue, the gating defect of the cystic fibrosis mutant G551D-CFTR.

The Journal Of Physiology

Xu, Zhe Z; Pissarra, Luísa S LS; Farinha, Carlos M CM; Liu, Jia J; Cai, Zhiwei Z; Thibodeau, Patrick H PH; Amaral, Margarida D MD; Sheppard, David N DN

Publication Date: 2014-05-01

Variant appearance in text: CFTR: V562I

PubMed Link: 24591578

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.

The Journal Of Molecular Diagnostics : Jmd

Prach, Lisa L; Koepke, Ruth R; Kharrazi, Martin M; Keiles, Steven S; Salinas, Danieli B DB; Reyes, Maria Carmen MC; Pian, Mark M; Opsimos, Harry H; Otsuka, Kimberly N KN; Hardy, Karen Ann KA; Milla, Carlos E CE; Zirbes, Jacquelyn M JM; Chipps, Bradley B; O'Bra, Susan S; Saeed, Muhammad M MM; Sudhakar, Reddivalam R; Lehto, Susan S; Nielson, Dennis D; Shay, Gregory F GF; Seastrand, Mary M; Jhawar, Sanjay S; Nickerson, Bruce B; Landon, Christopher C; Thompson, Ann A; Nussbaum, Eliezer E; Chin, Terry T; Wojtczak, Henry H; ,

Publication Date: 2013-09

Variant appearance in text: CFTR: V562I

PubMed Link: 23810505

Variant Present in the following documents:

• Main text

View BVdb publication page

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Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis.

Plos One

Sousa, Marisa M; Servidoni, Maria F MF; Vinagre, Adriana M AM; Ramalho, Anabela S AS; Bonadia, Luciana C LC; Felício, Verónica V; Ribeiro, Maria A MA; Uliyakina, Inna I; Marson, Fernando A FA; Kmit, Arthur A; Cardoso, Silvia R SR; Ribeiro, José D JD; Bertuzzo, Carmen S CS; Sousa, Lisete L; Kunzelmann, Karl K; Ribeiro, Antônio F AF; Amaral, Margarida D MD

Publication Date: 2012

Variant appearance in text: CFTR: V562I

PubMed Link: 23082198

Variant Present in the following documents:

• Main text
• pone.0047708.pdf

View BVdb publication page

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Orphan missense mutations in the cystic fibrosis transmembrane conductance regulator: A three-step biological approach to establishing a correlation between genotype and phenotype.

The Journal Of Molecular Diagnostics : Jmd

Fresquet, Fleur F; Clement, Romain R; Norez, Caroline C; Sterlin, Adélaïde A; Melin, Patricia P; Becq, Frédéric F; Kitzis, Alain A; Thoreau, Vincent V; Bilan, Frédéric F

Publication Date: 2011-09

Variant appearance in text: CFTR: 1684G>A; V562I

PubMed Link: 21708286

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: V562I

PubMed Link: 20551307

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: V562I

PubMed Link: 20100616

Variant Present in the following documents:

• Main text

View BVdb publication page

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A novel computational and structural analysis of nsSNPs in CFTR gene.

Genomic Medicine

George Priya Doss, C C; Rajasekaran, R R; Sudandiradoss, C C; Ramanathan, K K; Purohit, R R; Sethumadhavan, R R

Publication Date: 2008-01

Variant appearance in text: CFTR: V562I; rs1800097

PubMed Link: 18716917

Variant Present in the following documents:

• Main text

View BVdb publication page

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Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.

European Journal Of Human Genetics : Ejhg

Dequeker, Els E; Stuhrmann, Manfred M; Morris, Michael A MA; Casals, Teresa T; Castellani, Carlo C; Claustres, Mireille M; Cuppens, Harry H; des Georges, Marie M; Ferec, Claude C; Macek, Milan M; Pignatti, Pier-Franco PF; Scheffer, Hans H; Schwartz, Marianne M; Witt, Michal M; Schwarz, Martin M; Girodon, Emmanuelle E

Publication Date: 2009-01

Variant appearance in text: CFTR: V562I

PubMed Link: 18685558

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders.

The Journal Of Molecular Diagnostics : Jmd

Bareil, Corinne C; Guittard, Caroline C; Altieri, Jean-Pierre JP; Templin, Carine C; Claustres, Mireille M; des Georges, Marie M

Publication Date: 2007-11

Variant appearance in text: CFTR: V562I

PubMed Link: 17975025

Variant Present in the following documents:

• Main text

View BVdb publication page

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Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms.

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

Roxo-Rosa, Mónica M; Xu, Zhe Z; Schmidt, André A; Neto, Mário M; Cai, Zhiwei Z; Soares, Cláudio M CM; Sheppard, David N DN; Amaral, Margarida D MD

Publication Date: 2006-11-21

Variant appearance in text: CFTR: V562I

PubMed Link: 17098864

Variant Present in the following documents:

• Main text

View BVdb publication page

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