CFTR c.1675G>A ;(p.A559T)

Variant ID: 7-117227883-G-A

NM_000492.3(CFTR):c.1675G>A;(p.A559T)

This variant was identified in 57 publications

View GRCh38 version.




Publications:


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: 1675G>A; Ala559Thr
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: A559T
PubMed Link: 35647563
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page



Author Correction: Spatial covariance analysis reveals the residue-by-residue thermodynamic contribution of variation to the CFTR fold.

Communications Biology
Anglès, Frédéric F; Wang, Chao C; Balch, William E WE
Publication Date: 2022-05-18

Variant appearance in text: CFTR: A559T
PubMed Link: 35585144
Variant Present in the following documents:
  • 42003_2022_3457_MOESM1_ESM.pdf
View BVdb publication page



Spatial covariance analysis reveals the residue-by-residue thermodynamic contribution of variation to the CFTR fold.

Communications Biology
Anglès, Frédéric F; Wang, Chao C; Balch, William E WE
Publication Date: 2022-04-13

Variant appearance in text: CFTR: A559T
PubMed Link: 35418593
Variant Present in the following documents:
  • 42003_2022_Article_3302.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: 1675G>A; A559T
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM3_ESM.xls, sheet 1
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: A559T
PubMed Link: 35072004
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.

International Journal Of Neonatal Screening
Sicko, Robert J RJ; Stevens, Colleen F CF; Hughes, Erin E EE; Leisner, Melissa M; Ling, Helen H; Saavedra-Matiz, Carlos A CA; Caggana, Michele M; Kay, Denise M DM
Publication Date: 2021-11-02

Variant appearance in text: CFTR: 1675G>A; A559T
PubMed Link: 34842611
Variant Present in the following documents:
  • Main text
  • IJNS-07-00073.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: rs75549581
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: rs75549581
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
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: 1675G>A; Ala559Thr
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: 1675G>A; Ala559Thr; rs75549581
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: 1675G>A; Ala559Thr; rs75549581
PubMed Link: 33613790
Variant Present in the following documents:
  • Main text
  • DM2021-9812074.pdf
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: A559T
PubMed Link: 33073036
Variant Present in the following documents:
  • IJNS-06-00046-s001.xlsx, sheet 1
View BVdb publication page



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: A559T
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Fluorescence assay for simultaneous quantification of CFTR ion-channel function and plasma membrane proximity.

The Journal Of Biological Chemistry
Prins, Stella S; Langron, Emily E; Hastings, Cato C; Hill, Emily J EJ; Stefan, Andra C AC; Griffin, Lewis D LD; Vergani, Paola P
Publication Date: 2020-12-04

Variant appearance in text: CFTR: A559T
PubMed Link: 32934006
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



CFTR trafficking mutations disrupt cotranslational protein folding by targeting biosynthetic intermediates.

Nature Communications
Shishido, Hideki H; Yoon, Jae Seok JS; Yang, Zhongying Z; Skach, William R WR
Publication Date: 2020-08-26

Variant appearance in text: CFTR: A559T
PubMed Link: 32848127
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_18101.pdf
  • 41467_2020_18101_MOESM1_ESM.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: CFTR: 1675G>A; A559T
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



Identification of CFTR variants in Latino patients with cystic fibrosis from the Dominican Republic and Puerto Rico.

Pediatric Pulmonology
Zeiger, Andrew M AM; McGarry, Meghan E ME; Mak, Angel C Y ACY; Medina, Vivian V; Salazar, Sandra S; Eng, Celeste C; Liu, Amy K AK; Oh, Sam S SS; Nuckton, Thomas J TJ; Jain, Deepti D; Blackwell, Thomas W TW; Kang, Hyun Min HM; Abecasis, Goncalo G; Oñate, Leandra Cordero LC; Seibold, Max A MA; Burchard, Esteban G EG; Rodriguez-Santana, Jose J
Publication Date: 2020-02

Variant appearance in text: CFTR: 1675G>A; Ala559Thr
PubMed Link: 31665830
Variant Present in the following documents:
  • Main text
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: 1675G>A; Ala559Thr; rs75549581
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: CFTR: 1675G>A; A559T
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population.

Molecular Genetics & Genomic Medicine
Martins, Raisa da Silva RDS; Campos Junior, Mario M; Dos Santos Moreira, Aline A; Marques Zembrzuski, Verônica V; da Fonseca, Ana Carolina Proença ACP; Abreu, Gabriella de Medeiros GM; Cabello, Pedro Hernan PH; de Cabello, Giselda Maria Kalil GMK
Publication Date: 2019-07

Variant appearance in text: CFTR: 1675G>A; Ala559Thr
PubMed Link: 31199594
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: 1675G>A; A559T
PubMed Link: 31036917
Variant Present in the following documents:
  • 41436_2019_525_MOESM3_ESM.xlsx, sheet 1
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: CFTR: A559T
PubMed Link: 30996306
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_42404.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: rs75549581
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: 1675G>A; Ala559Thr; rs75549581
PubMed Link: 28957316
Variant Present in the following documents:
  • pgen.1006915.s002.xlsx, sheet 1
View BVdb publication page



Orkambi® and amplifier co-therapy improves function from a rare CFTR mutation in gene-edited cells and patient tissue.

Embo Molecular Medicine
Molinski, Steven V SV; Ahmadi, Saumel S; Ip, Wan W; Ouyang, Hong H; Villella, Adriana A; Miller, John P JP; Lee, Po-Shun PS; Kulleperuma, Kethika K; Du, Kai K; Di Paola, Michelle M; Eckford, Paul Dw PD; Laselva, Onofrio O; Huan, Ling Jun LJ; Wellhauser, Leigh L; Li, Ellen E; Ray, Peter N PN; Pomès, Régis R; Moraes, Theo J TJ; Gonska, Tanja T; Ratjen, Felix F; Bear, Christine E CE
Publication Date: 2017-09

Variant appearance in text: CFTR: A559T
PubMed Link: 28667089
Variant Present in the following documents:
View BVdb publication page



Stabilization of a nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator yields insight into disease-causing mutations.

The Journal Of Biological Chemistry
Vernon, Robert M RM; Chong, P Andrew PA; Lin, Hong H; Yang, Zhengrong Z; Zhou, Qingxian Q; Aleksandrov, Andrei A AA; Dawson, Jennifer E JE; Riordan, John R JR; Brouillette, Christie G CG; Thibodeau, Patrick H PH; Forman-Kay, Julie D JD
Publication Date: 2017-08-25

Variant appearance in text: CFTR: A559T
PubMed Link: 28655774
Variant Present in the following documents:
  • Main text
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: 1675G>A; Ala559Thr
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: 1675G>A; A559T
PubMed Link: 28261631
Variant Present in the following documents:
  • Main text
  • nihms822513.pdf
View BVdb publication page



Phenotypes of California CF Newborn Screen-Positive Children with CFTR 5T Allele by TG Repeat Length.

Genetic Testing And Molecular Biomarkers
Salinas, Danieli Barino DB; Azen, Colleen C; Young, Suzanne S; Keens, Thomas G TG; Kharrazi, Martin M; Parad, Richard B RB
Publication Date: 2016-09

Variant appearance in text: CFTR: A559T
PubMed Link: 27447098
Variant Present in the following documents:
  • Main text
View BVdb publication page



From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations.

Molecular Biology Of The Cell
Veit, Gudio G; Avramescu, Radu G RG; Chiang, Annette N AN; Houck, Scott A SA; Cai, Zhiwei Z; Peters, Kathryn W KW; Hong, Jeong S JS; Pollard, Harvey B HB; Guggino, William B WB; Balch, William E WE; Skach, William R WR; Cutting, Garry R GR; Frizzell, Raymond A RA; Sheppard, David N DN; Cyr, Douglas M DM; Sorscher, Eric J EJ; Brodsky, Jeffrey L JL; Lukacs, Gergely L GL
Publication Date: 2016-02-01

Variant appearance in text: CFTR: A559T
PubMed Link: 26823392
Variant Present in the following documents:
  • Main text
View BVdb publication page



Testing gene therapy vectors in human primary nasal epithelial cultures.

Molecular Therapy. Methods & Clinical Development
Cao, Huibi H; Ouyang, Hong H; Ip, Wan W; Du, Kai K; Duan, Wenming W; Avolio, Julie J; Wu, Jing J; Duan, Cathleen C; Yeger, Herman H; Bear, Christine E CE; Gonska, Tanja T; Hu, Jim J; Moraes, Theo J TJ
Publication Date: 2015

Variant appearance in text: CFTR: A559T
PubMed Link: 26730394
Variant Present in the following documents:
  • Main text
  • mtm201534.pdf
View BVdb publication page



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: Ala559Thr
PubMed Link: 26258862
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: A559T
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
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: 1675G>A; Ala559Thr
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: 1675G>A; A559T
PubMed Link: 25674778
Variant Present in the following documents:
  • Main text
View BVdb publication page



Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity.

Human Molecular Genetics
Masica, David L DL; Sosnay, Patrick R PR; Raraigh, Karen S KS; Cutting, Garry R GR; Karchin, Rachel R
Publication Date: 2015-04-01

Variant appearance in text: CFTR: A559T
PubMed Link: 25489051
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: A559T
PubMed Link: 24603877
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: A559T
PubMed Link: 24517344
Variant Present in the following documents:
  • 1465-9921-15-18.pdf
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: rs75549581
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



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: A559T
PubMed Link: 23810505
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in patients suspected of having mild or atypical cystic fibrosis.

Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia
Dal'Maso, Vinícius Buaes VB; Mallmann, Lucas L; Siebert, Marina M; Simon, Laura L; Saraiva-Pereira, Maria Luiza ML; Dalcin, Paulo de Tarso Roth Pde T
Publication Date: 2013

Variant appearance in text: CFTR: A559T
PubMed Link: 23670503
Variant Present in the following documents:
  • Main text
  • 1806-3713-jbpneu-39-02-00181.pdf
View BVdb publication page



Newborn screening for cystic fibrosis in Alberta: Two years of experience.

Paediatrics & Child Health
Lilley, Margaret M; Christian, Susan S; Hume, Stacey S; Scott, Patrick P; Montgomery, Mark M; Semple, Lisa L; Zuberbuhler, Peter P; Tabak, Joan J; Bamforth, Fiona F; Somerville, Martin J MJ
Publication Date: 2010-11

Variant appearance in text: CFTR: A559T
PubMed Link: 22043142
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low abundance of sweat duct Cl- channel CFTR in both healthy and cystic fibrosis athletes with exceptionally salty sweat during exercise.

American Journal Of Physiology. Regulatory, Integrative And Comparative Physiology
Brown, Mary Beth MB; Haack, Karla K V KK; Pollack, Brian P BP; Millard-Stafford, Mindy M; McCarty, Nael A NA
Publication Date: 2011-03

Variant appearance in text: CFTR: A559T
PubMed Link: 21228336
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.

Respiratory Research
Green, Deanna M DM; McDougal, Kathryn E KE; Blackman, Scott M SM; Sosnay, Patrick R PR; Henderson, Lindsay B LB; Naughton, Kathleen M KM; Collaco, J Michael JM; Cutting, Garry R GR
Publication Date: 2010-10-08

Variant appearance in text: CFTR: A559T
PubMed Link: 20932301
Variant Present in the following documents:
  • Main text
  • 1465-9921-11-140.pdf
View BVdb publication page



Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.

Protein Science : A Publication Of The Protein Society
Kelly, Libusha L; Fukushima, Hisayo H; Karchin, Rachel R; Gow, Jason M JM; Chinn, Leslie W LW; Pieper, Ursula U; Segal, Mark R MR; Kroetz, Deanna L DL; Sali, Andrej A
Publication Date: 2010-11

Variant appearance in text: CFTR: A559T
PubMed Link: 20799350
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

The Journal Of Molecular Diagnostics : Jmd
Farkas, Daniel H DH; Miltgen, Nicholas E NE; Stoerker, Jay J; van den Boom, Dirk D; Highsmith, W Edward WE; Cagasan, Lesley L; McCullough, Ron R; Mueller, Reinhold R; Tang, Lin L; Tynan, John J; Tate, Courtney C; Bombard, Allan A
Publication Date: 2010-09

Variant appearance in text: CFTR: A559T
PubMed Link: 20616359
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma.

Cancer
McWilliams, Robert R RR; Petersen, Gloria M GM; Rabe, Kari G KG; Holtegaard, Leonard M LM; Lynch, Pamela J PJ; Bishop, Michele D MD; Highsmith, W Edward WE
Publication Date: 2010-01-01

Variant appearance in text: CFTR: A559T
PubMed Link: 19885835
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The impact of cellular networks on disease comorbidity.

Molecular Systems Biology
Park, Juyong J; Lee, Deok-Sun DS; Christakis, Nicholas A NA; Barabási, Albert-László AL
Publication Date: 2009

Variant appearance in text: CFTR: ALA559THR
PubMed Link: 19357641
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  • msb200916-s1.pdf
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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Castellani, C C; Cuppens, H H; Macek, M M; Cassiman, J J JJ; Kerem, E E; Durie, P P; Tullis, E E; Assael, B M BM; Bombieri, C C; Brown, A A; Casals, T T; Claustres, M M; Cutting, G R GR; Dequeker, E E; Dodge, J J; Doull, I I; Farrell, P P; Ferec, C C; Girodon, E E; Johannesson, M M; Kerem, B B; Knowles, M M; Munck, A A; Pignatti, P F PF; Radojkovic, D D; Rizzotti, P P; Schwarz, M M; Stuhrmann, M M; Tzetis, M M; Zielenski, J J; Elborn, J S JS
Publication Date: 2008-05

Variant appearance in text: CFTR: A559T
PubMed Link: 18456578
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A comparative study of five technologically diverse CFTR testing platforms.

The Journal Of Molecular Diagnostics : Jmd
Johnson, Monique A MA; Yoshitomi, Marvin J MJ; Richards, C Sue CS
Publication Date: 2007-07

Variant appearance in text: CFTR: A559T
PubMed Link: 17591940
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Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

The Journal Of Molecular Diagnostics : Jmd
Schrijver, Iris I; Oitmaa, Eneli E; Metspalu, Andres A; Gardner, Phyllis P
Publication Date: 2005-08

Variant appearance in text: CFTR: A559T
PubMed Link: 16049310
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Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

The Journal Of Molecular Diagnostics : Jmd
Schrijver, Iris I; Ramalingam, Sudha S; Sankaran, Ramalingam R; Swanson, Steve S; Dunlop, Charles L M CL; Keiles, Steven S; Moss, Richard B RB; Oehlert, John J; Gardner, Phyllis P; Wassman, E Robert ER; Kammesheidt, Anja A
Publication Date: 2005-05

Variant appearance in text: CFTR: A559T
PubMed Link: 15858154
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Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Watson, Michael S MS; Cutting, Garry R GR; Desnick, Robert J RJ; Driscoll, Deborah A DA; Klinger, Katherine K; Mennuti, Michael M; Palomaki, Glenn E GE; Popovich, Bradley W BW; Pratt, Victoria M VM; Rohlfs, Elizabeth M EM; Strom, Charles M CM; Richards, C Sue CS; Witt, David R DR; Grody, Wayne W WW
Publication Date: 2004

Variant appearance in text: CFTR: A559T
PubMed Link: 15371902
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Structure of nucleotide-binding domain 1 of the cystic fibrosis transmembrane conductance regulator.

The Embo Journal
Lewis, Hal A HA; Buchanan, Sean G SG; Burley, Stephen K SK; Conners, Kris K; Dickey, Mark M; Dorwart, Michael M; Fowler, Richard R; Gao, Xia X; Guggino, William B WB; Hendrickson, Wayne A WA; Hunt, John F JF; Kearins, Margaret C MC; Lorimer, Don D; Maloney, Peter C PC; Post, Kai W KW; Rajashankar, Kanagalaghatta R KR; Rutter, Marc E ME; Sauder, J Michael JM; Shriver, Stephanie S; Thibodeau, Patrick H PH; Thomas, Philip J PJ; Zhang, Marie M; Zhao, Xun X; Emtage, Spencer S
Publication Date: 2004-01-28

Variant appearance in text: CFTR: A559T
PubMed Link: 14685259
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Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas.

Gut
Ahmed, N N; Corey, M M; Forstner, G G; Zielenski, J J; Tsui, L-C LC; Ellis, L L; Tullis, E E; Durie, P P
Publication Date: 2003-08

Variant appearance in text: CFTR: A559T
PubMed Link: 12865275
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