Publications:

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The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.

International Journal Of Molecular Sciences

Makarova, Maria M; Nemtsova, Marina M; Danishevich, Anastasiia A; Chernevskiy, Denis D; Belenikin, Maxim M; Krinitsina, Anastasiia A; Baranova, Elena E; Sagaydak, Olesya O; Vorontsova, Maria M; Khatkov, Igor I; Zhukova, Lyudmila L; Bodunova, Natalia N; Nikolaev, Sergey S; Byakhova, Mariya M; Semenova, Anna A; Galkin, Vsevolod V; Gadzhieva, Saida S

Publication Date: 2023-04-27

Variant appearance in text: CFTR: 2491G>T; Glu831Ter; rs397508387

PubMed Link: 37175647

Variant Present in the following documents:

• ijms-24-07940.pdf

View BVdb publication page

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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: 2491G>T; Glu831Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: E831X

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

View BVdb publication page

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Role of inhaled antibiotics in the era of highly effective CFTR modulators.

European Respiratory Review : An Official Journal Of The European Respiratory Society

Elborn, J Stuart JS; Blasi, Francesco F; Burgel, Pierre-Régis PR; Peckham, Daniel D

Publication Date: 2023-03-31

Variant appearance in text: CFTR: E831X

PubMed Link: 36631132

Variant Present in the following documents:

• Main text
• ERR-0154-2022.pdf

View BVdb publication page

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Splicing mutations in the CFTR gene as therapeutic targets.

Gene Therapy

Deletang, Karine K; Taulan-Cadars, Magali M

Publication Date: 2022-08

Variant appearance in text: CFTR: 2491G>T; E831X

PubMed Link: 35650428

Variant Present in the following documents:

• Main text
• 41434_2022_Article_347.pdf

View BVdb publication page

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CFTR Modulator Therapies: Potential Impact on Airway Infections in Cystic Fibrosis.

Cells

Saluzzo, Francesca F; Riberi, Luca L; Messore, Barbara B; Loré, Nicola Ivan NI; Esposito, Irene I; Bignamini, Elisabetta E; De Rose, Virginia V

Publication Date: 2022-04-06

Variant appearance in text: CFTR: E831X

PubMed Link: 35406809

Variant Present in the following documents:

• cells-11-01243.pdf

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: 2491G>T; E831X

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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The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

Balkan Medical Journal

Erdoğan, Murat M; Köse, Mehmet M; Pekcan, Sevgi S; Hangül, Melih M; Balta, Burhan B; Kiraz, Aslıhan A; Akıncı Gönen, Gizem G; Zamani, Ayşe Gül AG; Yıldırım, Mahmut Selam MS; Ramaslı Gürsoy, Tuğba T; Ezgu, Fatih F; Şişmanlar Eyüpoğlu, Tuğba T; Tana Aslan, Ayse A

Publication Date: 2021-11

Variant appearance in text: CFTR: 2491G>T; rs397508387

PubMed Link: 34860163

Variant Present in the following documents:

• bmj-38-6-357.pdf

View BVdb publication page

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Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics

Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W

Publication Date: 2021-11-05

Variant appearance in text: rs397508387

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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State of the Art on Approved Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators and Triple-Combination Therapy.

Pharmaceuticals (Basel, Switzerland)

Meoli, Aniello A; Fainardi, Valentina V; Deolmi, Michela M; Chiopris, Giulia G; Marinelli, Francesca F; Caminiti, Caterina C; Esposito, Susanna S; Pisi, Giovanna G

Publication Date: 2021-09-15

Variant appearance in text: CFTR: E831X

PubMed Link: 34577628

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00928.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: rs397508387

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: CFTR: E831*

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
• 13073_2021_964_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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New Therapies to Correct the Cystic Fibrosis Basic Defect.

International Journal Of Molecular Sciences

Bergeron, Christelle C; Cantin, André M AM

Publication Date: 2021-06-08

Variant appearance in text: CFTR: E831X

PubMed Link: 34201249

Variant Present in the following documents:

• Main text
• ijms-22-06193.pdf

View BVdb publication page

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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: 2491G>T; Glu831Ter; rs397508387

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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: E831X

PubMed Link: 33922413

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.

Disease Markers

Cambraia, Amanda A; Junior, Mario Campos MC; Zembrzuski, Verônica Marques VM; Junqueira, Ricardo Magrani RM; Cabello, Pedro Hernán PH; de Cabello, Giselda Maria Kalil GMK

Publication Date: 2021

Variant appearance in text: CFTR: 2491G>T; Glu831X; rs397508387

PubMed Link: 33613790

Variant Present in the following documents:

• Main text
• DM2021-9812074.pdf

View BVdb publication page

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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: E831X

PubMed Link: 33282281

Variant Present in the following documents:

• Main text
• mrm-15-1-690.pdf

View BVdb publication page

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Common germline-somatic variant interactions in advanced urothelial cancer.

Nature Communications

Vosoughi, Aram A; Zhang, Tuo T; Shohdy, Kyrillus S KS; Vlachostergios, Panagiotis J PJ; Wilkes, David C DC; Bhinder, Bhavneet B; Tagawa, Scott T ST; Nanus, David M DM; Molina, Ana M AM; Beltran, Himisha H; Sternberg, Cora N CN; Motanagh, Samaneh S; Robinson, Brian D BD; Xiang, Jenny J; Fan, Xiao X; Chung, Wendy K WK; Rubin, Mark A MA; Elemento, Olivier O; Sboner, Andrea A; Mosquera, Juan Miguel JM; Faltas, Bishoy M BM

Publication Date: 2020-12-03

Variant appearance in text: CFTR: 2491G>T; Glu831*; rs397508387

PubMed Link: 33273457

Variant Present in the following documents:

• 41467_2020_19971_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Liposomes Loaded With Phosphatidylinositol 5-Phosphate Improve the Antimicrobial Response to Pseudomonas aeruginosa in Impaired Macrophages From Cystic Fibrosis Patients and Limit Airway Inflammatory Response.

Frontiers In Immunology

Poerio, Noemi N; De Santis, Federica F; Rossi, Alice A; Ranucci, Serena S; De Fino, Ida I; Henriquez, Ana A; D'Andrea, Marco M MM; Ciciriello, Fabiana F; Lucidi, Vincenzina V; Nisini, Roberto R; Bragonzi, Alessandra A; Fraziano, Maurizio M

Publication Date: 2020

Variant appearance in text: CFTR: E831X

PubMed Link: 33117337

Variant Present in the following documents:

• Main text
• fimmu-11-532225.pdf

View BVdb publication page

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Intestinal current measurement and nasal potential difference to make a diagnosis of cases with inconclusive CFTR genetics and sweat test.

Bmj Open Respiratory Research

Minso, Rebecca R; Schulz, Angela A; Dopfer, Christian C; Alfeis, Nadine N; Barneveld, Andrea van AV; Makartian-Gyulumyan, Lena L; Hansen, Gesine G; Junge, Sibylle S; Müller, Carsten C; Ringshausen, Felix C C FCC; Sauer-Heilborn, Annette A; Stanke, Frauke F; Stolpe, Cornelia C; Tamm, Stephanie S; Welte, Tobias T; Dittrich, Anna-Maria AM; Tümmler, Burkhard B

Publication Date: 2020-10

Variant appearance in text: CFTR: Glu831Ter

PubMed Link: 33020115

Variant Present in the following documents:

• bmjresp-2020-000736supp002.pdf

View BVdb publication page

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Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy.

Diagnostics (Basel, Switzerland)

Taccetti, Giovanni G; Botti, Matteo M; Terlizzi, Vito V; Cavicchi, Maria Chiara MC; Neri, Anna Silvia AS; Galici, Valeria V; Mergni, Gianfranco G; Centrone, Claudia C; Peroni, Diego G DG; Festini, Filippo F

Publication Date: 2020-07-01

Variant appearance in text: CFTR: E831X

PubMed Link: 32630227

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.

Genes

Bienvenu, Thierry T; Lopez, Maureen M; Girodon, Emmanuelle E

Publication Date: 2020-06-04

Variant appearance in text: CFTR: 2491G>T; E831X

PubMed Link: 32512765

Variant Present in the following documents:

• Main text
• genes-11-00619.pdf

View BVdb publication page

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Transcriptomic and Proteostasis Networks of CFTR and the Development of Small Molecule Modulators for the Treatment of Cystic Fibrosis Lung Disease.

Genes

Strub, Matthew D MD; McCray, Paul B PB

Publication Date: 2020-05-13

Variant appearance in text: CFTR: E831X

PubMed Link: 32414011

Variant Present in the following documents:

• Main text
• genes-11-00546.pdf

View BVdb publication page

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CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine.

Frontiers In Pharmacology

Lopes-Pacheco, Miquéias M

Publication Date: 2019

Variant appearance in text: CFTR: E831X

PubMed Link: 32153386

Variant Present in the following documents:

• Main text
• fphar-10-01662.pdf

View BVdb publication page

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Pediatric Orphan Drug Indications: 2010-2018.

Pediatrics

Kimmel, Lauren L; Conti, Rena M RM; Volerman, Anna A; Chua, Kao-Ping KP

Publication Date: 2020-04

Variant appearance in text: CFTR: E831X

PubMed Link: 32127360

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cystic fibrosis precision therapeutics: Emerging considerations.

Pediatric Pulmonology

Joshi, Disha D; Ehrhardt, Annette A; Hong, Jeong S JS; Sorscher, Eric J EJ

Publication Date: 2019-11

Variant appearance in text: CFTR: E831X

PubMed Link: 31715091

Variant Present in the following documents:

• Main text

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: CFTR: 2491G>T; Glu831*; rs397508387

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Making precision medicine personal for cystic fibrosis.

Science (New York, N.Y.)

Manfredi, Candela C; Tindall, Janice M JM; Hong, Jeong S JS; Sorscher, Eric J EJ

Publication Date: 2019-07-19

Variant appearance in text: CFTR: Glu831X

PubMed Link: 31320522

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 2491G>T; E831X

PubMed Link: 31245908

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sequencing as a first-line methodology for cystic fibrosis carrier screening.

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

Beauchamp, Kyle A KA; Johansen Taber, Katherine A KA; Grauman, Peter V PV; Spurka, Lindsay L; Lim-Harashima, Jeraldine J; Svenson, Ashley A; Goldberg, James D JD; Muzzey, Dale D

Publication Date: 2019-11

Variant appearance in text: CFTR: 2491G>T; E831*

PubMed Link: 31036917

Variant Present in the following documents:

• 41436_2019_525_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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The combination of tezacaftor and ivacaftor in the treatment of patients with cystic fibrosis: clinical evidence and future prospects in cystic fibrosis therapy.

Therapeutic Advances In Respiratory Disease

Lommatzsch, Sherstin T ST; Taylor-Cousar, Jennifer L JL

Publication Date: 2019

Variant appearance in text: CFTR: E831X

PubMed Link: 31027466

Variant Present in the following documents:

• Main text
• 10.1177_1753466619844424.pdf

View BVdb publication page

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Emerging Therapeutic Approaches for Cystic Fibrosis. From Gene Editing to Personalized Medicine.

Frontiers In Pharmacology

Pranke, Iwona I; Golec, Anita A; Hinzpeter, Alexandre A; Edelman, Aleksander A; Sermet-Gaudelus, Isabelle I

Publication Date: 2019

Variant appearance in text: CFTR: E831X

PubMed Link: 30873022

Variant Present in the following documents:

• Main text
• fphar-10-00121.pdf

View BVdb publication page

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Decreased mRNA and protein stability of W1282X limits response to modulator therapy.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society

Aksit, M A MA; Bowling, A D AD; Evans, T A TA; Joynt, A T AT; Osorio, D D; Patel, S S; West, N N; Merlo, C C; Sosnay, P R PR; Cutting, G R GR; Sharma, N N

Publication Date: 2019-09

Variant appearance in text: CFTR: E831X

PubMed Link: 30803905

Variant Present in the following documents:

• Main text

View BVdb publication page

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Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.

Plos Genetics

Sharma, Neeraj N; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis, Emily E; Aksit, Melis A MA; McCague, Allison F AF; Joynt, Anya T AT; Lu, Zhongzhu Z; Han, Sangwoo T ST; Anzmann, Arianna F AF; Lam, Anh-Thu N AN; Thaxton, Abigail A; West, Natalie N; Merlo, Christian C; Gottschalk, Laura B LB; Raraigh, Karen S KS; Sosnay, Patrick R PR; Cotton, Calvin U CU; Cutting, Garry R GR

Publication Date: 2018-11

Variant appearance in text: CFTR: E831X

PubMed Link: 30444886

Variant Present in the following documents:

• Main text
• pgen.1007723.pdf

View BVdb publication page

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Structural mechanisms for defective CFTR gating caused by the Q1412X mutation, a severe Class VI pathogenic mutation in cystic fibrosis.

The Journal Of Physiology

Yeh, Jiunn-Tyng JT; Yu, Ying-Chun YC; Hwang, Tzyh-Chang TC

Publication Date: 2019-01

Variant appearance in text: CFTR: E831X

PubMed Link: 30408177

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cystic Fibrosis: Translating Molecular Mechanisms into Effective Therapies.

Annals Of The American Thoracic Society

Jennings, Mark T MT; Flume, Patrick A PA

Publication Date: 2018-08

Variant appearance in text: CFTR: E831X

PubMed Link: 29812963

Variant Present in the following documents:

• Main text

View BVdb publication page

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Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.

Erj Open Research

Pranke, Iwona I; Bidou, Laure L; Martin, Natacha N; Blanchet, Sandra S; Hatton, Aurélie A; Karri, Sabrina S; Cornu, David D; Costes, Bruno B; Chevalier, Benoit B; Tondelier, Danielle D; Girodon, Emmanuelle E; Coupet, Matthieu M; Edelman, Aleksander A; Fanen, Pascale P; Namy, Olivier O; Sermet-Gaudelus, Isabelle I; Hinzpeter, Alexandre A

Publication Date: 2018-01

Variant appearance in text: CFTR: Glu831*

PubMed Link: 29497617

Variant Present in the following documents:

• Main text
• 00080-2017_supp.pdf
• 00080-2017.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs397508387

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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: 2491G>T; Glu831Ter; rs397508387

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

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: 2491G>T; Glu831Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum.

Journal Of Medical Biochemistry

Ivády, Gergely G; Koczok, Katalin K; Madar, Laszlo L; Gombos, Eva E; Toth, Izabella I; Gyori, Klaudia K; Balogh, István I

Publication Date: 2015-01

Variant appearance in text: CFTR: 2491G>T; E831X

PubMed Link: 28356823

Variant Present in the following documents:

• Main text
• jomb-2014-0055.pdf

View BVdb publication page

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Changing incidence of cystic fibrosis in Wisconsin, USA.

Pediatric Pulmonology

Parker-McGill, Katelyn K; Nugent, Melodee M; Bersie, Rachel R; Hoffman, Gary G; Rock, Michael M; Baker, Mei M; Farrell, Philip M PM; Simpson, Pippa P; Levy, Hara H

Publication Date: 2015-11

Variant appearance in text: CFTR: Glu831X

PubMed Link: 26258862

Variant Present in the following documents:

• Main text

View BVdb publication page

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The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

European Journal Of Human Genetics : Ejhg

Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M

Publication Date: 2016-04

Variant appearance in text: CFTR: 2491G>T; Glu831*

PubMed Link: 26014425

Variant Present in the following documents:

• Main text
• ejhg201599a.pdf

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: 2491G>T; Glu831*

PubMed Link: 25910067

Variant Present in the following documents:

• Main text

View BVdb publication page

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Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.

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

Baker, Mei W MW; Atkins, Anne E AE; Cordovado, Suzanne K SK; Hendrix, Miyono M; Earley, Marie C MC; Farrell, Philip M PM

Publication Date: 2016-03

Variant appearance in text: CFTR: 2491G>T; E831X

PubMed Link: 25674778

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.

Journal Of Medical Case Reports

Dell'Edera, Domenico D; Benedetto, Michele M; Gadaleta, Gemma G; Carone, Domenico D; Salvatore, Donatello D; Angione, Antonella A; Gallo, Massimiliano M; Milo, Michele M; Pisaturo, Maria Laura ML; Di Pierro, Giuseppe G; Mazzone, Eleonora E; Epifania, Annunziata Anna AA

Publication Date: 2014-10-10

Variant appearance in text: CFTR: E831X

PubMed Link: 25304080

Variant Present in the following documents:

• Main text
• 1752-1947-8-339.pdf

View BVdb publication page

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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Nature Genetics

Sosnay, Patrick R PR; Siklosi, Karen R KR; Van Goor, Fredrick F; Kaniecki, Kyle K; Yu, Haihui H; Sharma, Neeraj N; Ramalho, Anabela S AS; Amaral, Margarida D MD; Dorfman, Ruslan R; Zielenski, Julian J; Masica, David L DL; Karchin, Rachel R; Millen, Linda L; Thomas, Philip J PJ; Patrinos, George P GP; Corey, Mary M; Lewis, Michelle H MH; Rommens, Johanna M JM; Castellani, Carlo C; Penland, Christopher M CM; Cutting, Garry R GR

Publication Date: 2013-10

Variant appearance in text: CFTR: Glu831X

PubMed Link: 23974870

Variant Present in the following documents:

• nihms-512446.pdf
• NIHMS512446-supplement-12.xlsx, sheet 1

View BVdb publication page

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The cystic fibrosis gene: a molecular genetic perspective.

Cold Spring Harbor Perspectives In Medicine

Tsui, Lap-Chee LC; Dorfman, Ruslan R

Publication Date: 2013-02-01

Variant appearance in text: CFTR: 2491G>T; Glu831X

PubMed Link: 23378595

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessing the Disease-Liability of Mutations in CFTR.

Cold Spring Harbor Perspectives In Medicine

Ferec, Claude C; Cutting, Garry R GR

Publication Date: 2012-12-01

Variant appearance in text: CFTR: Glu831X

PubMed Link: 23209179

Variant Present in the following documents:

• Main text

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Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.

Plos Genetics

Hinzpeter, Alexandre A; Aissat, Abdel A; Sondo, Elvira E; Costa, Catherine C; Arous, Nicole N; Gameiro, Christine C; Martin, Natacha N; Tarze, Agathe A; Weiss, Laurence L; de Becdelièvre, Alix A; Costes, Bruno B; Goossens, Michel M; Galietta, Luis J LJ; Girodon, Emmanuelle E; Fanen, Pascale P

Publication Date: 2010-10-07

Variant appearance in text: CFTR: E831X

PubMed Link: 20949073

Variant Present in the following documents:

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p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study.

European Journal Of Human Genetics : Ejhg

René, Céline C; Paulet, Damien D; Girodon, Emmanuelle E; Costa, Catherine C; Lalau, Guy G; Leclerc, Julie J; Cabet-Bey, Faïza F; Bienvenu, Thierry T; Blayau, Martine M; Iron, Albert A; Mittre, Hervé H; Feldmann, Delphine D; Guittard, Caroline C; Claustres, Mireille M; Georges, Marie des Md

Publication Date: 2011-01

Variant appearance in text: CFTR: Glu831X

PubMed Link: 20717170

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