CFTR c.2657+5G>A

Variant ID: 7-117242922-G-A

NM_000492.3(CFTR):c.2657+5G>A

This variant was identified in 58 publications

View GRCh38 version.




Publications:


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: 2657+5G>A; rs80224560
PubMed Link: 37175647
Variant Present in the following documents:
  • ijms-24-07940.pdf
View BVdb publication page



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: 2657+5G>A
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



What Can RNA-Based Therapy Do for Monogenic Diseases?

Pharmaceutics
Clarke, Luka A LA; Amaral, Margarida D MD
Publication Date: 2023-01-12

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 36678889
Variant Present in the following documents:
  • Main text
  • pharmaceutics-15-00260.pdf
View BVdb publication page



Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del].

Current Issues In Molecular Biology
Kondratyeva, Elena E; Bulatenko, Nataliya N; Melyanovskaya, Yuliya Y; Efremova, Anna A; Zhekaite, Elena E; Sherman, Viktoriya V; Voronkova, Anna A; Asherova, Irina I; Polyakov, Alexander A; Adyan, Tagui T; Kovalskaia, Valeriia V; Bukharova, Tatiana T; Goldshtein, Dmitry D; Kutsev, Sergey S
Publication Date: 2022-10-21

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 36286063
Variant Present in the following documents:
  • Main text
  • cimb-44-00349.pdf
View BVdb publication page



Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.

Journal Of Medical Genetics
Shen, Yuelin Y; Tang, Xiaolei X; Chen, Qionghua Q; Xu, Hui H; Liu, Hui H; Liu, Jinrong J; Yang, Haiming H; Li, Huimin H; Zhao, Shunying S
Publication Date: 2022-07-20

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 35858753
Variant Present in the following documents:
  • jmg-2022-108501supp001.pdf
View BVdb publication page



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: 2657+5G>A
PubMed Link: 35740997
Variant Present in the following documents:
  • Main text
  • cells-11-01868.pdf
View BVdb publication page



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: 2657+5G>A
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.

The European Respiratory Journal
Muilwijk, Danya D; de Poel, Eyleen E; van Mourik, Peter P; Suen, Sylvia W F SWF; Vonk, Annelotte M AM; Brunsveld, Jesse E JE; Kruisselbrink, Evelien E; Oppelaar, Hugo H; Hagemeijer, Marne C MC; Berkers, Gitte G; de Winter-de Groot, Karin M KM; Heida-Michel, Sabine S; Jans, Stephan R SR; van Panhuis, Hannah H; van der Eerden, Menno M MM; van der Meer, Renske R; Roukema, Jolt J; Dompeling, Edward E; Weersink, Els J M EJM; Koppelman, Gerard H GH; Vries, Robert R; Zomer-van Ommen, Domenique D DD; Eijkemans, Marinus J C MJC; van der Ent, Cornelis K CK; Beekman, Jeffrey M JM
Publication Date: 2022-08

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 35086832
Variant Present in the following documents:
  • ERJ-00508-2021.Supplement.pdf
View BVdb publication page



Frequency of CFTR variants in southern Brazil and indication for modulators therapy in patients with cystic fibrosis.

Genetics And Molecular Biology
Lima, Eliandra da Silveira EDS; Pezzin, Luíse Sgarabotto LS; Fensterseifer, Ana Carolina AC; Pinto, Leonardo Araújo LA
Publication Date: 2021

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 34874053
Variant Present in the following documents:
  • Main text
View BVdb publication page



Frequency of CFTR variants in southern Brazil and indication for modulators therapy in patients with cystic fibrosis.

Genetics And Molecular Biology
Lima, Eliandra da Silveira EDS; Pezzin, Luíse Sgarabotto LS; Fensterseifer, Ana Carolina AC; Pinto, Leonardo Araújo LA
Publication Date: 2021

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 34874053
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2657+5G>A; rs80224560
PubMed Link: 34860163
Variant Present in the following documents:
  • bmj-38-6-357.pdf
View BVdb publication page



Cystic fibrosis in South Africa: spectrum of disease and determinants of outcome.

Erj Open Research
Zampoli, Marco M; Verstraete, Janine J; Frauendorf, Marlize M; Kassanjee, Reshma R; Workman, Lesley L; Morrow, Brenda M BM; Zar, Heather J HJ
Publication Date: 2021-07

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 34350279
Variant Present in the following documents:
  • 00856-2020.supplement.pdf
View BVdb publication page



Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.

Human Mutation
Nykamp, Keith K; Truty, Rebecca R; Riethmaier, Darlene D; Wilkinson, Julia J; Bristow, Sara L SL; Aguilar, Sienna S; Neitzel, Dana D; Faulkner, Nicole N; Aradhya, Swaroop S
Publication Date: 2021-09

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 34196078
Variant Present in the following documents:
  • HUMU-42-1165-s002.xlsx, sheet 1
View BVdb publication page



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: 2657+5G>A; rs80224560
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Cystic Fibrosis Polymorphic Variants in a Russian Population.

Pharmacogenomics And Personalized Medicine
Kiseleva, Anna A; Klimushina, Marina M; Sotnikova, Evgeniia E; Skirko, Olga O; Divashuk, Mikhail M; Kurilova, Olga O; Ershova, Alexandra A; Khlebus, Eleonora E; Zharikova, Anastasia A; Efimova, Irina I; Pokrovskaya, Maria M; Slominsky, Petr A PA; Shalnova, Svetlana S; Meshkov, Alexey A; Drapkina, Oxana O
Publication Date: 2020

Variant appearance in text: rs80224560
PubMed Link: 33623413
Variant Present in the following documents:
  • Main text
  • pgpm-13-679.pdf
View BVdb publication page



CRMS/CFSPID Subjects Carrying D1152H CFTR Variant: Can the Second Variant Be a Predictor of Disease Development?

Diagnostics (Basel, Switzerland)
Terlizzi, Vito V; Padoan, Rita R; Claut, Laura L; Colombo, Carla C; Fabrizzi, Benedetta B; Lucarelli, Marco M; Bruno, Sabina Maria SM; Castaldo, Alice A; Bonomi, Paolo P; Taccetti, Giovanni G; Tosco, Antonella A
Publication Date: 2020-12-12

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 33322690
Variant Present in the following documents:
  • diagnostics-10-01080-s001.pdf
View BVdb publication page



Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.

Plos Genetics
Joynt, Anya T AT; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis-Marcisak, Emily F EF; Aksit, Melis A MA; Eastman, Alice C AC; Patel, Shivani U SU; Paul, Kathleen C KC; Osorio, Derek L DL; Bowling, Alyssa D AD; Cotton, Calvin U CU; Raraigh, Karen S KS; West, Natalie E NE; Merlo, Christian A CA; Cutting, Garry R GR; Sharma, Neeraj N
Publication Date: 2020-10

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 33085659
Variant Present in the following documents:
  • Main text
  • pgen.1009100.pdf
View BVdb publication page



A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.

Journal Of Personalized Medicine
Kiseleva, Anna V AV; Klimushina, Marina V MV; Sotnikova, Evgeniia A EA; Divashuk, Mikhail G MG; Ershova, Alexandra I AI; Skirko, Olga P OP; Kurilova, Olga V OV; Zharikova, Anastasia A AA; Khlebus, Eleonora Yu EY; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Slominsky, Petr A PA; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM
Publication Date: 2020-09-22

Variant appearance in text: CFTR: 2657+5G>A; rs80224560
PubMed Link: 32971794
Variant Present in the following documents:
  • jpm-10-00140-s001.pdf
View BVdb publication page



Cystic Fibrosis: Overview of the Current Development Trends and Innovative Therapeutic Strategies.

Pharmaceutics
Almughem, Fahad A FA; Aldossary, Ahmad M AM; Tawfik, Essam A EA; Alomary, Mohammad N MN; Alharbi, Waleed S WS; Alshahrani, Mohammad Y MY; Alshehri, Abdullah A AA
Publication Date: 2020-07-02

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 32630625
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing.

International Journal Of Neonatal Screening
Hendrix, Miyono M MM; Cuthbert, Carla D CD; Cordovado, Suzanne K SK
Publication Date: 2020-06

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 32514487
Variant Present in the following documents:
  • Main text
  • IJNS-06-00036.pdf
View BVdb publication page



Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

Genes
Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Vasilyeva, Tatyana A TA; Kondratyeva, Elena I EI; Zhekaite, Elena K EK; Voronkova, Anna Y AY; Sherman, Victoria D VD; Galkina, Varvara A VA; Ginter, Eugeny K EK; Kutsev, Sergey I SI; Marakhonov, Andrey V AV; Zinchenko, Rena A RA
Publication Date: 2020-05-15

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 32429104
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2657+5G>A
PubMed Link: 32414011
Variant Present in the following documents:
  • Main text
View BVdb publication page



CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Deignan, Joshua L JL; Astbury, Caroline C; Cutting, Garry R GR; Del Gaudio, Daniela D; Gregg, Anthony R AR; Grody, Wayne W WW; Monaghan, Kristin G KG; Richards, Sue S; ,
Publication Date: 2020-08

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 32404922
Variant Present in the following documents:
  • Main text
View BVdb publication page



.

Emc. Pediatria
Noël, S S; Sermet-Gaudelus, I I
Publication Date: 2020-03

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 32288518
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Two Cases of Cystic Fibrosis with Compound Heterozygous Variants Reported for the First Time

Balkan Medical Journal
Yalçıntepe, Sinem S; Gürkan, Hakan H; Atlı, Engin E; Sayın, Niyazi Cenk NC; Başaran, Ümit Nusret ÜN
Publication Date: 2020-08-11

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 32106665
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Annals Of Saudi Medicine
Banjar, Hanaa Hasan HH; Tuleimat, Lin L; El Seoudi, Abdul Aziz Agha AAA; Mogarri, Ibrahim I; Alhaider, Sami S; Nizami, Imran Yaqoob IY; AlMaghamsi, Talal T; Alkaf, Sara Andulrahman SA; Moghrabi, Nabil N
Publication Date: 2020

Variant appearance in text: CFTR: 2657+5G>A; rs80224560
PubMed Link: 32026723
Variant Present in the following documents:
  • Main text
  • 0256-4947.2020.15.pdf
View BVdb publication page



Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
Publication Date: 2020-02-11

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 31980526
Variant Present in the following documents:
  • pnas.1909378117.sd01.xlsx, sheet 3
View BVdb publication page



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: 2657+5G>A; rs80224560
PubMed Link: 31589614
Variant Present in the following documents:
  • Main text
  • pgen.1008409.s001.xlsx, sheet 1
  • pgen.1008409.s004.xlsx, sheet 1
View BVdb publication page



Cystic Fibrosis Mutation Spectrum in North Macedonia: A Step Toward Personalized Therapy.

Balkan Journal Of Medical Genetics : Bjmg
Terzic, M M; Jakimovska, M M; Fustik, S S; Jakovska, T T; Sukarova-Stefanovska, E E; Plaseska-Karanfilska, D D
Publication Date: 2019-06

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 31523618
Variant Present in the following documents:
  • Main text
  • bjmg-22-035.pdf
View BVdb publication page



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: 2657+5G>A
PubMed Link: 31245908
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2657+5G>A
PubMed Link: 31036917
Variant Present in the following documents:
  • 41436_2019_525_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.

European Journal Of Human Genetics : Ejhg
Thauvin-Robinet, Christel C; Thevenon, Julien J; Nambot, Sophie S; Delanne, Julian J; Kuentz, Paul P; Bruel, Ange-Line AL; Chassagne, Aline A; Cretin, Elodie E; Pelissier, Aurore A; Peyron, Chritine C; Gautier, Elodie E; Lehalle, Daphné D; Jean-Marçais, Nolwenn N; Callier, Patrick P; Mosca-Boidron, Anne-Laure AL; Vitobello, Antonio A; Sorlin, Arthur A; Tran Mau-Them, Frédéric F; Philippe, Christophe C; Vabres, Pierre P; Demougeot, Laurent L; Poé, Charlotte C; Jouan, Thibaud T; Chevarin, Martin M; Lefebvre, Mathilde M; Bardou, Marc M; Tisserant, Emilie E; Luu, Maxime M; Binquet, Christine C; Deleuze, Jean-François JF; Verstuyft, Céline C; Duffourd, Yannis Y; Faivre, Laurence L
Publication Date: 2019-08

Variant appearance in text: rs80224560
PubMed Link: 31019283
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.

Scientific Reports
Pereira, Stéphanie Villa-Nova SV; Ribeiro, José Dirceu JD; Ribeiro, Antônio Fernando AF; Bertuzzo, Carmen Sílvia CS; Marson, Fernando Augusto Lima FAL
Publication Date: 2019-04-17

Variant appearance in text: rs80224560
PubMed Link: 30996306
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_42404.pdf
View BVdb publication page



Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.

Bmc Medical Genetics
Petrova, N V NV; Kashirskaya, N Y NY; Saydaeva, D K DK; Polyakov, A V AV; Adyan, T A TA; Simonova, O I OI; Gorinova, Y V YV; Kondratyeva, E I EI; Sherman, V D VD; Novoselova, O G OG; Vasilyeva, T A TA; Marakhonov, A V AV; Macek, M M; Ginter, E K EK; Zinchenko, R A RA
Publication Date: 2019-03-21

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 30898088
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2657+5G>A
PubMed Link: 30873022
Variant Present in the following documents:
  • Main text
  • fphar-10-00121.pdf
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: rs80224560
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Recent advances in developing therapeutics for cystic fibrosis.

Human Molecular Genetics
Strug, Lisa J LJ; Stephenson, Anne L AL; Panjwani, Naim N; Harris, Ann A
Publication Date: 2018-08-01

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 30060192
Variant Present in the following documents:
  • Main text
View BVdb publication page



Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells.

Nucleic Acids Research
Bruun, Gitte H GH; Bang, Jeanne M V JMV; Christensen, Lise L LL; Brøner, Sabrina S; Petersen, Ulrika S S USS; Guerra, Barbara B; Grønning, Alexander G B AGB; Doktor, Thomas K TK; Andresen, Brage S BS
Publication Date: 2018-09-06

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 29762696
Variant Present in the following documents:
  • Main text
  • gky395.pdf
View BVdb publication page



Personalized medicine in CF: from modulator development to therapy for cystic fibrosis patients with rare CFTR mutations.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Harutyunyan, Misak M; Huang, Yunjie Y; Mun, Kyu-Shik KS; Yang, Fanmuyi F; Arora, Kavisha K; Naren, Anjaparavanda P AP
Publication Date: 2018-04-01

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 29351449
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2657+5G>A; rs80224560
PubMed Link: 28957316
Variant Present in the following documents:
  • pgen.1006915.s002.xlsx, sheet 1
View BVdb publication page



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: 2657+5G>A
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.

Molecular Genetics & Genomic Medicine
Behar, Doron M DM; Inbar, Ori O; Shteinberg, Michal M; Gur, Michal M; Mussaffi, Huda H; Shoseyov, David D; Ashkenazi, Moshe M; Alkrinawi, Soliman S; Bormans, Concetta C; Hakim, Fahed F; Mei-Zahav, Meir M; Cohen-Cymberknoh, Malena M; Dagan, Adi A; Prais, Dario D; Sarouk, Ifat I; Stafler, Patrick P; Bar Aluma, Bat El BE; Akler, Gidon G; Picard, Elie E; Aviram, Micha M; Efrati, Ori O; Livnat, Galit G; Rivlin, Joseph J; Bentur, Lea L; Blau, Hannah H; Kerem, Eitan E; Singer, Amihood A
Publication Date: 2017-05

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 28546993
Variant Present in the following documents:
  • Main text
View BVdb publication page



Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.

The Journal Of Pediatrics
Giefer, Matthew J MJ; Lowe, Mark E ME; Werlin, Steven L SL; Zimmerman, Bridget B; Wilschanski, Michael M; Troendle, David D; Schwarzenberg, Sarah Jane SJ; Pohl, John F JF; Palermo, Joseph J; Ooi, Chee Y CY; Morinville, Veronique D VD; Lin, Tom K TK; Husain, Sohail Z SZ; Himes, Ryan R; Heyman, Melvin B MB; Gonska, Tanja T; Gariepy, Cheryl E CE; Freedman, Steven D SD; Fishman, Douglas S DS; Bellin, Melena D MD; Barth, Bradley B; Abu-El-Haija, Maisam M; Uc, Aliye A
Publication Date: 2017-07

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 28502372
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2657+5G>A
PubMed Link: 28356823
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  • Main text
  • jomb-2014-0055.pdf
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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: 2657+5G>A; rs80224560
PubMed Link: 26436105
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  • Main text
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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology
,
Publication Date: 2015-06-26

Variant appearance in text: CFTR: 2657+5G>A; rs80224560
PubMed Link: 26112015
Variant Present in the following documents:
  • 13059_2015_693_MOESM1_ESM.xls, sheet 1
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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: 2657+5G>A
PubMed Link: 26014425
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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: 2657+5G>A
PubMed Link: 25910067
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Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

F1000Research
Caminsky, Natasha N; Mucaki, Eliseos J EJ; Rogan, Peter K PK
Publication Date: 2014

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 25717368
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  • Main text
  • f1000research-3-6038.pdf
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Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.

Human Mutation
Sharma, Neeraj N; Sosnay, Patrick R PR; Ramalho, Anabela S AS; Douville, Christopher C; Franca, Arianna A; Gottschalk, Laura B LB; Park, Jeenah J; Lee, Melissa M; Vecchio-Pagan, Briana B; Raraigh, Karen S KS; Amaral, Margarida D MD; Karchin, Rachel R; Cutting, Garry R GR
Publication Date: 2014-10

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 25066652
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CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Plos One
Ziętkiewicz, Ewa E; Rutkiewicz, Ewa E; Pogorzelski, Andrzej A; Klimek, Barbara B; Voelkel, Katarzyna K; Witt, Michał M
Publication Date: 2014

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 24586523
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Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis.

European Journal Of Human Genetics : Ejhg
Masvidal, Laia L; Igreja, Susana S; Ramos, Maria D MD; Alvarez, Antoni A; de Gracia, Javier J; Ramalho, Anabela A; Amaral, Margarida D MD; Larriba, Sara S; Casals, Teresa T
Publication Date: 2014-06

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 24129438
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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: 2657+5G>A
PubMed Link: 23974870
Variant Present in the following documents:
  • NIHMS512446-supplement-1.pdf
  • NIHMS512446-supplement-12.xlsx, sheet 1
  • NIHMS512446-supplement-3.pdf
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A comprehensive assay for CFTR mutational analysis using next-generation sequencing.

Clinical Chemistry
Abou Tayoun, Ahmad N AN; Tunkey, Christopher D CD; Pugh, Trevor J TJ; Ross, Tristen T; Shah, Minita M; Lee, Clarence C CC; Harkins, Timothy T TT; Wells, Wendy A WA; Tafe, Laura J LJ; Amos, Christopher I CI; Tsongalis, Gregory J GJ
Publication Date: 2013-10

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 23775370
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Implementation of the first worldwide quality assurance program for cystic fibrosis multiple mutation detection in population-based screening.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
Earley, Marie C MC; Laxova, Anita A; Farrell, Philip M PM; Driscoll-Dunn, Rena R; Cordovado, Suzanne S; Mogayzel, Peter J PJ; Konstan, Michael W MW; Hannon, W Harry WH
Publication Date: 2011-07-15

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 21514289
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CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.

Journal Of Medical Genetics
Sheridan, Molly B MB; Hefferon, Timothy W TW; Wang, Nulang N; Merlo, Christian C; Milla, Carlos C; Borowitz, Drucy D; Green, Eric D ED; Mogayzel, Peter J PJ; Cutting, Garry R GR
Publication Date: 2011-04

Variant appearance in text:
PubMed Link: 21097845
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Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

Human Mutation
Scott, Stuart A SA; Edelmann, Lisa L; Liu, Liu L; Luo, Minjie M; Desnick, Robert J RJ; Kornreich, Ruth R
Publication Date: 2010-11

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 20672374
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Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

Human Mutation
Krasnov, Kristina V KV; Tzetis, Maria M; Cheng, Jie J; Guggino, William B WB; Cutting, Garry R GR
Publication Date: 2008-11

Variant appearance in text: CFTR: 2657+5G>A
PubMed Link: 18951463
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