CFTR c.178G>T ;(p.E60*)

Variant ID: 7-117149101-G-T

NM_000492.3(CFTR):c.178G>T;(p.E60*)

This variant was identified in 68 publications

View GRCh38 version.




Publications:


Emerging Personalized Opportunities for Enhancing Translational Readthrough in Rare Genetic Diseases and Beyond.

International Journal Of Molecular Sciences
Wagner, Roland N RN; Wießner, Michael M; Friedrich, Andreas A; Zandanell, Johanna J; Breitenbach-Koller, Hannelore H; Bauer, Johann W JW
Publication Date: 2023-03-23

Variant appearance in text: CFTR: E60X
PubMed Link: 37047074
Variant Present in the following documents:
  • Main text
  • ijms-24-06101.pdf
View BVdb publication page



Magnetic resonance imaging detects onset and association with lung disease severity of bronchial artery dilatation in cystic fibrosis.

Erj Open Research
Leutz-Schmidt, Patricia P; Optazaite, Daiva-Elzbieta DE; Sommerburg, Olaf O; Eichinger, Monika M; Wege, Sabine S; Steinke, Eva E; Graeber, Simon Y SY; Puderbach, Michael U MU; Schenk, Jens-Peter JP; Alrajab, Abdulsattar A; Triphan, Simon M F SMF; Kauczor, Hans-Ulrich HU; Stahl, Mirjam M; Mall, Marcus A MA; Wielpütz, Mark O MO
Publication Date: 2023-03

Variant appearance in text: CFTR: E60X
PubMed Link: 37009019
Variant Present in the following documents:
  • 00473-2022.SUPPLEMENT.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: 178G>T; Glu60Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Downstream Alternate Start Site Allows N-Terminal Nonsense Variants to Escape NMD and Results in Functional Recovery by Readthrough and Modulator Combination.

Journal Of Personalized Medicine
Bowling, Alyssa A; Eastman, Alice A; Merlo, Christian C; Lin, Gabrielle G; West, Natalie N; Patel, Shivani S; Cutting, Garry G; Sharma, Neeraj N
Publication Date: 2022-09-01

Variant appearance in text: CFTR: E60X
PubMed Link: 36143233
Variant Present in the following documents:
  • Main text
  • jpm-12-01448.pdf
View BVdb publication page



Pharmacological Responses of the G542X-CFTR to CFTR Modulators.

Frontiers In Molecular Biosciences
Fang, Xinxiu X; Yeh, Jiunn-Tyng JT; Hwang, Tzyh-Chang TC
Publication Date: 2022

Variant appearance in text: CFTR: E60X
PubMed Link: 35813815
Variant Present in the following documents:
  • Main text
  • fmolb-09-921680.pdf
View BVdb publication page



Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine
Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z
Publication Date: 2022-07

Variant appearance in text: CFTR: 178G>T; E60X; rs77284892
PubMed Link: 35665681
Variant Present in the following documents:
  • mmc26.xlsx, sheet 1
View BVdb publication page



Accounting for population structure in genetic studies of cystic fibrosis.

Hgg Advances
Kingston, Hanley H; Stilp, Adrienne M AM; Gordon, William W; Broome, Jai J; Gogarten, Stephanie M SM; Ling, Hua H; Barnard, John J; Dugan-Perez, Shannon S; Ellinor, Patrick T PT; Gabriel, Stacey S; Germer, Soren S; Gibbs, Richard A RA; Gupta, Namrata N; Rice, Kenneth K; Smith, Albert V AV; Zody, Michael C MC; , ; , ; Blackman, Scott M SM; Cutting, Garry G; Knowles, Michael R MR; Zhou, Yi-Hui YH; Rosenfeld, Margaret M; Gibson, Ronald L RL; Bamshad, Michael M; Fohner, Alison A; Blue, Elizabeth E EE
Publication Date: 2022-07-14

Variant appearance in text: CFTR: E60X
PubMed Link: 35647563
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.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: 178G>T; E60X
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: 178G>T; E60X
PubMed Link: 35086832
Variant Present in the following documents:
  • ERJ-00508-2021.Supplement.pdf
View BVdb publication page



Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Iscience
Wong, Sharon L SL; Awatade, Nikhil T NT; Astore, Miro A MA; Allan, Katelin M KM; Carnell, Michael J MJ; Slapetova, Iveta I; Chen, Po-Chia PC; Capraro, Alexander A; Fawcett, Laura K LK; Whan, Renee M RM; Griffith, Renate R; Ooi, Chee Y CY; Kuyucak, Serdar S; Jaffe, Adam A; Waters, Shafagh A SA
Publication Date: 2022-01-21

Variant appearance in text: CFTR: 178G>T; Glu60X
PubMed Link: 35072004
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research
Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C
Publication Date: 2021-12

Variant appearance in text: CFTR: E60X
PubMed Link: 34857524
Variant Present in the following documents:
  • bmjresp-2021-000998supp001.pdf
View BVdb publication page



Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research
Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C
Publication Date: 2021-12

Variant appearance in text: CFTR: E60X
PubMed Link: 34857524
Variant Present in the following documents:
  • bmjresp-2021-000998supp001.pdf
View BVdb publication page



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: rs77284892
PubMed Link: 34740355
Variant Present in the following documents:
  • 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: rs77284892
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



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: E60*
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



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: 178G>T; E60X
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: 178G>T; Glu60*
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: 178G>T; Glu60Ter; rs77284892
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.

International Journal Of Neonatal Screening
Sinclair, Graham G; McMahon, Vanessa V; Schellenberg, Amy A; Nelson, Tanya N TN; Chilvers, Mark M; Vallance, Hilary H
Publication Date: 2020-06

Variant appearance in text: CFTR: E60X
PubMed Link: 33073036
Variant Present in the following documents:
  • IJNS-06-00046-s001.xlsx, sheet 1
View BVdb publication page



.

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

Variant appearance in text: CFTR: 178G>T; E60X
PubMed Link: 32288518
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



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: E60X
PubMed Link: 32153386
Variant Present in the following documents:
  • Main text
  • fphar-10-01662.pdf
View BVdb publication page



Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.

Molecular Cytogenetics
Koumbaris, George G; Achilleos, Achilleas A; Nicolaou, Michalis M; Loizides, Charalambos C; Tsangaras, Kyriakos K; Kypri, Elena E; Mina, Petros P; Sismani, Carolina C; Velissariou, Voula V; Christopoulou, Georgia G; Constantoulakis, Pantelis P; Manolakos, Emmanouil E; Papoulidis, Ioannis I; Stambouli, Danai D; Ioannides, Marios M; Patsalis, Philippos P
Publication Date: 2019

Variant appearance in text: CFTR: 178G>T; Glu60Ter
PubMed Link: 31832098
Variant Present in the following documents:
  • 13039_2019_459_MOESM4_ESM.xlsx, sheet 1
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: 178G>T; Glu60*; rs77284892
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



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: 178G>T; E60X
PubMed Link: 31585024
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of a novel functional miR-143-5p recognition element in the Cystic Fibrosis Transmembrane Conductance Regulator 3'UTR.

Aims Genetics
De Santi, Chiara C; Gadi, Sucharitha S; Swiatecka-Urban, Agnieszka A; Greene, Catherine M CM
Publication Date: 2018

Variant appearance in text: CFTR: E60X
PubMed Link: 31435512
Variant Present in the following documents:
  • genetics-05-01-053-s01.pdf
View BVdb publication page



Pharmacological analysis of CFTR variants of cystic fibrosis using stem cell-derived organoids.

Drug Discovery Today
Chen, Kevin G KG; Zhong, Pingyu P; Zheng, Wei W; Beekman, Jeffrey M JM
Publication Date: 2019-11

Variant appearance in text: CFTR: E60X
PubMed Link: 31173911
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: 178G>T; E60*
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: rs77284892
PubMed Link: 31019283
Variant Present in the following documents:
  • Main text
View BVdb publication page



The CFTR gene variants in Japanese children with idiopathic pancreatitis.

Human Genome Variation
Iso, Manami M; Suzuki, Mitsuyoshi M; Yanagi, Kumiko K; Minowa, Kei K; Sakurai, Yumiko Y; Nakano, Satoshi S; Satou, Kazuhito K; Shimizu, Toshiaki T; Kaname, Tadashi T
Publication Date: 2019

Variant appearance in text: CFTR: E60X
PubMed Link: 30992994
Variant Present in the following documents:
  • Main text
  • 41439_2019_Article_49.pdf
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: E60X
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: CFTR: E60X; rs77284892
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



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: E60X
PubMed Link: 30444886
Variant Present in the following documents:
  • Main text
  • pgen.1007723.pdf
View BVdb publication page



Sonographic pancreas echogenicity in cystic fibrosis compared to exocrine pancreatic function and pancreas fat content at Dixon-MRI.

Plos One
Engjom, Trond T; Kavaliauskiene, Giedre G; Tjora, Erling E; Erchinger, Friedemann F; Wathle, Gaute G; Lærum, Birger Norderud BN; Njølstad, Pål Rasmus PR; Frøkjær, Jens Brøndum JB; Gilja, Odd Helge OH; Dimcevski, Georg G; Haldorsen, Ingfrid Salvesen IS
Publication Date: 2018

Variant appearance in text: CFTR: E60x
PubMed Link: 30048483
Variant Present in the following documents:
  • Main text
  • pone.0201019.pdf
View BVdb publication page



Low linoleic and high docosahexaenoic acids in a severe phenotype of transgenic cystic fibrosis mice.

Experimental Biology And Medicine (Maywood, N.J.)
Strandvik, Birgitta B; O Neal, Wanda K WK; Ali, Mohamed A MA; Hammar, Ulf U
Publication Date: 2018-03

Variant appearance in text: CFTR: E60X
PubMed Link: 29513100
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Glu60*
PubMed Link: 29497617
Variant Present in the following documents:
  • Main text
  • 00080-2017_supp.pdf
  • 00080-2017.pdf
View BVdb publication page



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: rs77284892
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
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: 178G>T; Glu60Ter; rs77284892
PubMed Link: 28957316
Variant Present in the following documents:
  • pgen.1006915.s002.xlsx, sheet 1
View BVdb publication page



Lung function and disease severity in cystic fibrosis patients heterozygous for p.Arg117His.

Erj Open Research
Shteinberg, Michal M; Downey, Damian G DG; Beattie, Diane D; McCaughan, John J; Reid, Alastair A; Stein, Nili N; Elborn, J Stuart JS
Publication Date: 2017-01

Variant appearance in text: CFTR: Glu60X
PubMed Link: 28845426
Variant Present in the following documents:
  • Main text
View BVdb publication page



Optimization of the French cystic fibrosis newborn screening programme by a centralized tracking process.

Journal Of Medical Screening
Munck, Anne A; Delmas, Dominique D; Audrézet, Marie-Pierre MP; Lemonnier, Lydie L; Cheillan, David D; Roussey, Michel M
Publication Date: 2018-03

Variant appearance in text: CFTR: E60X
PubMed Link: 28454512
Variant Present in the following documents:
  • Main text
  • 10.1177_0969141317692611.pdf
View BVdb publication page



Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis.

Journal Of Inborn Errors Of Metabolism And Screening
Hendrix, Miyono M MM; Foster, Stephanie L SL; Cordovado, Suzanne K SK
Publication Date: 2016

Variant appearance in text: CFTR: 178G>T; E60X
PubMed Link: 28261631
Variant Present in the following documents:
  • Main text
  • nihms822513.pdf
View BVdb publication page



Preparation for a first-in-man lentivirus trial in patients with cystic fibrosis.

Thorax
Alton, Eric W F W EW; Beekman, Jeffery M JM; Boyd, A Christopher AC; Brand, June J; Carlon, Marianne S MS; Connolly, Mary M MM; Chan, Mario M; Conlon, Sinead S; Davidson, Heather E HE; Davies, Jane C JC; Davies, Lee A LA; Dekkers, Johanna F JF; Doherty, Ann A; Gea-Sorli, Sabrina S; Gill, Deborah R DR; Griesenbach, Uta U; Hasegawa, Mamoru M; Higgins, Tracy E TE; Hironaka, Takashi T; Hyndman, Laura L; McLachlan, Gerry G; Inoue, Makoto M; Hyde, Stephen C SC; Innes, J Alastair JA; Maher, Toby M TM; Moran, Caroline C; Meng, Cuixiang C; Paul-Smith, Michael C MC; Pringle, Ian A IA; Pytel, Kamila M KM; Rodriguez-Martinez, Andrea A; Schmidt, Alexander C AC; Stevenson, Barbara J BJ; Sumner-Jones, Stephanie G SG; Toshner, Richard R; Tsugumine, Shu S; Wasowicz, Marguerite W MW; Zhu, Jie J
Publication Date: 2017-02

Variant appearance in text: CFTR: E60X
PubMed Link: 27852956
Variant Present in the following documents:
  • Main text
  • thoraxjnl-2016-208406.pdf
View BVdb publication page



Poster Session Abstracts.

Pediatric Pulmonology
Publication Date: 2016-10

Variant appearance in text: CFTR: Glu60X
PubMed Link: 27653516
Variant Present in the following documents:
  • Main text
View BVdb publication page



Restoration of R117H CFTR folding and function in human airway cells through combination treatment with VX-809 and VX-770.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Gentzsch, Martina M; Ren, Hong Y HY; Houck, Scott A SA; Quinney, Nancy L NL; Cholon, Deborah M DM; Sopha, Pattarawut P; Chaudhry, Imron G IG; Das, Jhuma J; Dokholyan, Nikolay V NV; Randell, Scott H SH; Cyr, Douglas M DM
Publication Date: 2016-09-01

Variant appearance in text: CFTR: E60X
PubMed Link: 27402691
Variant Present in the following documents:
  • Main text
View BVdb publication page



An international, multicentre evaluation and description of Burkholderia pseudomallei infection in cystic fibrosis.

Bmc Pulmonary Medicine
Geake, James B JB; Reid, David W DW; Currie, Bart J BJ; Bell, Scott C SC; , ; Bright-Thomas, Rowland R; Dewar, Jane J; Holden, Steve S; Simmonds, Nicholas N; Gyi, Khin K; Kenna, Dervla D; Waters, Valerie V; Jackson, Mary M; O'Sullivan, Brian B; Taccetti, Giovanni G; Kolbe, John J; O'Carroll, Mark M; Campbell, Dee D; Jaksic, Mirjana M; Radhakrishna, Naghmeh N; Kidd, Timothy J TJ; Flight, William W
Publication Date: 2015-10-09

Variant appearance in text: CFTR: E60X
PubMed Link: 26453341
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 178G>T; E60*; rs77284892
PubMed Link: 26436105
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 178G>T; Glu60*
PubMed Link: 26014425
Variant Present in the following documents:
  • Main text
  • ejhg201599a.pdf
View BVdb publication page



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: 178G>T; E60X
PubMed Link: 25674778
Variant Present in the following documents:
  • Main text
View BVdb publication page



The tumor necrosis factor α (-308 A/G) polymorphism is associated with cystic fibrosis in Mexican patients.

Plos One
Sanchez-Dominguez, Celia N CN; Reyes-Lopez, Miguel A MA; Bustamante, Adriana A; Cerda-Flores, Ricardo M RM; Villalobos-Torres, Maria Del C Mdel C; Gallardo-Blanco, Hugo L HL; Rojas-Martinez, Augusto A; Martinez-Rodriguez, Herminia G HG; Barrera-Saldaña, Hugo A HA; Ortiz-Lopez, Rocio R
Publication Date: 2014

Variant appearance in text: CFTR: E60X
PubMed Link: 24603877
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 178G>T; E60X
PubMed Link: 24586523
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of heterozygote CFTR mutations in COPD patients with chronic bronchitis.

Respiratory Research
Raju, S Vamsee SV; Tate, Jody H JH; Peacock, Sandra K G SK; Fang, Ping P; Oster, Robert A RA; Dransfield, Mark T MT; Rowe, Steven M SM
Publication Date: 2014-02-11

Variant appearance in text: CFTR: E60X
PubMed Link: 24517344
Variant Present in the following documents:
  • Main text
  • 1465-9921-15-18.pdf
View BVdb publication page



Multicenter intestinal current measurements in rectal biopsies from CF and non-CF subjects to monitor CFTR function.

Plos One
Clancy, John P JP; Szczesniak, Rhonda D RD; Ashlock, Melissa A MA; Ernst, Sarah E SE; Fan, Lijuan L; Hornick, Douglas B DB; Karp, Philip H PH; Khan, Umer U; Lymp, James J; Ostmann, Alicia J AJ; Rezayat, Amir A; Starner, Timothy D TD; Sugandha, Shajan P SP; Sun, Hongtao H; Quinney, Nancy N; Donaldson, Scott H SH; Rowe, Steven M SM; Gabriel, Sherif E SE
Publication Date: 2013

Variant appearance in text: CFTR: E60X
PubMed Link: 24040112
Variant Present in the following documents:
  • Main text
View BVdb publication page



IP-10 is a potential biomarker of cystic fibrosis acute pulmonary exacerbations.

Plos One
Solomon, George M GM; Frederick, Carla C; Zhang, Shaoyan S; Gaggar, Amit A; Harris, Tom T; Woodworth, Bradford A BA; Steele, Chad C; Rowe, Steven M SM
Publication Date: 2013

Variant appearance in text: CFTR: E60X
PubMed Link: 23977293
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs77284892
PubMed Link: 23974870
Variant Present in the following documents:
  • NIHMS512446-supplement-12.xlsx, sheet 1
  • NIHMS512446-supplement-12.xlsx, sheet 2
View BVdb publication page



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: 178G>T
PubMed Link: 23775370
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and genetic features in patients with cystic fibrosis in southwestern iran.

Iranian Journal Of Pediatrics
Farjadian, Shirin S; Moghtaderi, Mozhgan M; Kashef, Sara S; Alyasin, Soheila S; Najib, Khadijehsadat K; Saki, Forough F
Publication Date: 2013-04

Variant appearance in text: CFTR: E60X
PubMed Link: 23724185
Variant Present in the following documents:
  • Main text
  • IJPD-23-212.pdf
View BVdb publication page



Low levels of insulin-like growth factor-1 contribute to alveolar macrophage dysfunction in cystic fibrosis.

Journal Of Immunology (Baltimore, Md. : 1950)
Bessich, Jamie L JL; Nymon, Amanda B AB; Moulton, Lisa A LA; Dorman, Dana D; Ashare, Alix A
Publication Date: 2013-07-01

Variant appearance in text: CFTR: E60X
PubMed Link: 23698746
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanism-based corrector combination restores ΔF508-CFTR folding and function.

Nature Chemical Biology
Okiyoneda, Tsukasa T; Veit, Guido G; Dekkers, Johanna F JF; Bagdany, Miklos M; Soya, Naoto N; Xu, Haijin H; Roldan, Ariel A; Verkman, Alan S AS; Kurth, Mark M; Simon, Agnes A; Hegedus, Tamas T; Beekman, Jeffrey M JM; Lukacs, Gergely L GL
Publication Date: 2013-07

Variant appearance in text: CFTR: E60X
PubMed Link: 23666117
Variant Present in the following documents:
  • Main text
View BVdb publication page



Improving test properties for neonatal cystic fibrosis screening in the Netherlands before the nationwide start by May 1st 2011.

Journal Of Inherited Metabolic Disease
Cornel, Martina C MC; Gille, Johan J P JJ; Loeber, J Gerard JG; Vernooij-van Langen, Annette M M AM; Dankert-Roelse, Jeannette J; Bolhuis, Piet A PA
Publication Date: 2012-07

Variant appearance in text: CFTR: E60X
PubMed Link: 22302635
Variant Present in the following documents:
  • Main text
View BVdb publication page