CFTR c.1013C>T ;(p.T338I)

Variant ID: 7-117180297-C-T

NM_000492.3(CFTR):c.1013C>T;(p.T338I)

This variant was identified in 60 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: 1013C>T; Thr338Ile
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.

Children (Basel, Switzerland)
Conti, Jessica J; Sorio, Claudio C; Melotti, Paola P
Publication Date: 2022-12-20

Variant appearance in text: CFTR: T338I
PubMed Link: 36670555
Variant Present in the following documents:
  • children-10-00004.pdf
View BVdb publication page



The impact of FDA and EMA regulatory decision-making process on the access to CFTR modulators for the treatment of cystic fibrosis.

Orphanet Journal Of Rare Diseases
Costa, Enrico E; Girotti, Silvia S; Pauro, Francesca F; Leufkens, Hubert G M HGM; Cipolli, Marco M
Publication Date: 2022-05-07

Variant appearance in text: CFTR: T338I
PubMed Link: 35525974
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2350.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: T338I
PubMed Link: 35418593
Variant Present in the following documents:
  • Main text
  • 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: 1013C>T; T338I; rs77409459
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM1_ESM.xls, sheet 1
  • 13023_2022_2279_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.

Cells
Lopes-Pacheco, Miquéias M; Bacalhau, Mafalda M; Ramalho, Sofia S SS; Silva, Iris A L IAL; Ferreira, Filipa C FC; Carlile, Graeme W GW; Thomas, David Y DY; Farinha, Carlos M CM; Hanrahan, John W JW; Amaral, Margarida D MD
Publication Date: 2022-01-01

Variant appearance in text: CFTR: T338I
PubMed Link: 35011698
Variant Present in the following documents:
  • Main text
  • cells-11-00136.pdf
View BVdb publication page



Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.

Cells
Lopes-Pacheco, Miquéias M; Bacalhau, Mafalda M; Ramalho, Sofia S SS; Silva, Iris A L IAL; Ferreira, Filipa C FC; Carlile, Graeme W GW; Thomas, David Y DY; Farinha, Carlos M CM; Hanrahan, John W JW; Amaral, Margarida D MD
Publication Date: 2022-01-01

Variant appearance in text: CFTR: T338I
PubMed Link: 35011698
Variant Present in the following documents:
  • Main text
  • cells-11-00136.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: rs77409459
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: rs77409459
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: T338I
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



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: 1013C>T; Thr338Ile; rs77409459
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Potential of Intestinal Current Measurement for Personalized Treatment of Patients with Cystic Fibrosis.

Journal Of Personalized Medicine
Graeber, Simon Y SY; Vitzthum, Constanze C; Mall, Marcus A MA
Publication Date: 2021-05-08

Variant appearance in text: CFTR: T338I
PubMed Link: 34066648
Variant Present in the following documents:
  • Main text
View BVdb publication page



Treatment of Pulmonary Disease of Cystic Fibrosis: A Comprehensive Review.

Antibiotics (Basel, Switzerland)
Girón Moreno, Rosa María RM; García-Clemente, Marta M; Diab-Cáceres, Layla L; Martínez-Vergara, Adrián A; Martínez-García, Miguel Ángel MÁ; Gómez-Punter, Rosa Mar RM
Publication Date: 2021-04-23

Variant appearance in text: CFTR: T338I
PubMed Link: 33922413
Variant Present in the following documents:
  • Main text
View BVdb publication page



Differential diagnosis of perinatal Bartter, Bartter and Gitelman syndromes.

Clinical Kidney Journal
Bamgbola, Oluwatoyin Fatai OF; Ahmed, Youssef Y
Publication Date: 2021-01

Variant appearance in text: CFTR: T338I
PubMed Link: 33564404
Variant Present in the following documents:
  • Main text
  • sfaa172.pdf
View BVdb publication page



COVID-19 lockdown beneficial effects on lung function in a cohort of cystic fibrosis patients.

Italian Journal Of Pediatrics
Servidio, Alessia Giuseppina AG; Capata, Giulia G; Levantino, Laura L; Riccio, Guglielmo G; Contorno, Sarah S; Barbi, Egidio E; Maschio, Massimo M
Publication Date: 2021-01-18

Variant appearance in text: CFTR: T338I
PubMed Link: 33461569
Variant Present in the following documents:
  • Main text
  • 13052_2021_Article_970.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: 1013C>T; Thr338Ile
PubMed Link: 33322690
Variant Present in the following documents:
  • diagnostics-10-01080-s001.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: T338I
PubMed Link: 33073036
Variant Present in the following documents:
  • IJNS-06-00046-s001.xlsx, sheet 1
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: T338I
PubMed Link: 32934006
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



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

Diagnostics (Basel, Switzerland)
Taccetti, Giovanni G; Botti, Matteo M; Terlizzi, Vito V; Cavicchi, Maria Chiara MC; Neri, Anna Silvia AS; Galici, Valeria V; Mergni, Gianfranco G; Centrone, Claudia C; Peroni, Diego G DG; Festini, Filippo F
Publication Date: 2020-07-01

Variant appearance in text: CFTR: T338I
PubMed Link: 32630227
Variant Present in the following documents:
  • Main text
  • diagnostics-10-00446.pdf
View BVdb publication page



Universal strategy for preimplantation genetic testing for cystic fibrosis based on next generation sequencing.

Journal Of Assisted Reproduction And Genetics
Chamayou, Sandrine S; Sicali, Maria M; Lombardo, Debora D; Alecci, Carmelita C; Ragolia, Carmen C; Maglia, Elena E; Liprino, Annalisa A; Cardea, Clementina C; Storaci, Giorgia G; Romano, Simona S; Guglielmino, Antonino A
Publication Date: 2020-01

Variant appearance in text: CFTR: 1013C>T; Thr338Ile
PubMed Link: 31828483
Variant Present in the following documents:
  • 10815_2019_Article_1635.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: 1013C>T; T338I
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature
,
Publication Date: 2019-12

Variant appearance in text: CFTR: 1013C>T; Thr338Ile; rs77409459
PubMed Link: 31802016
Variant Present in the following documents:
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
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: 1013C>T; Thr338Ile; rs77409459
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: 1013C>T; T338I
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Pseudo-Bartter syndrome in children with cystic fibrosis.

Clinical Case Reports
Faraji-Goodarzi, Mojgan M
Publication Date: 2019-06

Variant appearance in text: CFTR: T338I
PubMed Link: 31183080
Variant Present in the following documents:
  • CCR3-7-1123.pdf
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: 1013C>T; T338I
PubMed Link: 31036917
Variant Present in the following documents:
  • 41436_2019_525_MOESM3_ESM.xlsx, sheet 1
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: T338I; rs77409459
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.

Molecular Medicine (Cambridge, Mass.)
Sofia, Valentina Maria VM; Surace, Cecilia C; Terlizzi, Vito V; Da Sacco, Letizia L; Alghisi, Federico F; Angiolillo, Antonella A; Braggion, Cesare C; Cirilli, Natalia N; Colombo, Carla C; Di Lullo, Antonella A; Padoan, Rita R; Quattrucci, Serena S; Raia, Valeria V; Tuccio, Giuseppe G; Zarrilli, Federica F; Tomaiuolo, Anna Cristina AC; Novelli, Antonio A; Lucidi, Vincenzina V; Lucarelli, Marco M; Castaldo, Giuseppe G; Angioni, Adriano A
Publication Date: 2018-07-27

Variant appearance in text: CFTR: T338I
PubMed Link: 30134826
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bridging Genomics to Phenomics at Atomic Resolution through Variation Spatial Profiling.

Cell Reports
Wang, Chao C; Balch, William E WE
Publication Date: 2018-08-21

Variant appearance in text: CFTR: T338I
PubMed Link: 30134164
Variant Present in the following documents:
  • NIHMS986613-supplement-1.pdf
View BVdb publication page



Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.

Jci Insight
Han, Sangwoo T ST; Rab, Andras A; Pellicore, Matthew J MJ; Davis, Emily F EF; McCague, Allison F AF; Evans, Taylor A TA; Joynt, Anya T AT; Lu, Zhongzhou Z; Cai, Zhiwei Z; Raraigh, Karen S KS; Hong, Jeong S JS; Sheppard, David N DN; Sorscher, Eric J EJ; Cutting, Garry R GR
Publication Date: 2018-07-26

Variant appearance in text: CFTR: T338I
PubMed Link: 30046002
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.

American Journal Of Human Genetics
Raraigh, Karen S KS; Han, Sangwoo T ST; Davis, Emily E; Evans, Taylor A TA; Pellicore, Matthew J MJ; McCague, Allison F AF; Joynt, Anya T AT; Lu, Zhongzhou Z; Atalar, Melis M; Sharma, Neeraj N; Sheridan, Molly B MB; Sosnay, Patrick R PR; Cutting, Garry R GR
Publication Date: 2018-06-07

Variant appearance in text: CFTR: 1013C>T; T338I
PubMed Link: 29805046
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural mechanisms of CFTR function and dysfunction.

The Journal Of General Physiology
Hwang, Tzyh-Chang TC; Yeh, Jiunn-Tyng JT; Zhang, Jingyao J; Yu, Ying-Chun YC; Yeh, Han-I HI; Destefano, Samantha S
Publication Date: 2018-04-02

Variant appearance in text: CFTR: T338I
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946.pdf
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: 1013C>T; Thr338Ile; rs77409459
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: 1013C>T; Thr338Ile
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.

Nature Communications
Li, Yvonne Y YY; Chung, Grace T Y GT; Lui, Vivian W Y VW; To, Ka-Fai KF; Ma, Brigette B Y BB; Chow, Chit C; Woo, John K S JK; Yip, Kevin Y KY; Seo, Jeongsun J; Hui, Edwin P EP; Mak, Michael K F MK; Rusan, Maria M; Chau, Nicole G NG; Or, Yvonne Y Y YY; Law, Marcus H N MH; Law, Peggy P Y PP; Liu, Zoey W Y ZW; Ngan, Hoi-Lam HL; Hau, Pok-Man PM; Verhoeft, Krista R KR; Poon, Peony H Y PH; Yoo, Seong-Keun SK; Shin, Jong-Yeon JY; Lee, Sau-Dan SD; Lun, Samantha W M SW; Jia, Lin L; Chan, Anthony W H AW; Chan, Jason Y K JY; Lai, Paul B S PB; Fung, Choi-Yi CY; Hung, Suet-Ting ST; Wang, Lin L; Chang, Ann Margaret V AM; Chiosea, Simion I SI; Hedberg, Matthew L ML; Tsao, Sai-Wah SW; van Hasselt, Andrew C AC; Chan, Anthony T C AT; Grandis, Jennifer R JR; Hammerman, Peter S PS; Lo, Kwok-Wai KW
Publication Date: 2017-01-18

Variant appearance in text: CFTR: T338I
PubMed Link: 28098136
Variant Present in the following documents:
  • ncomms14121-s5.xlsx, sheet 1
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: T338I
PubMed Link: 26823392
Variant Present in the following documents:
  • Main text
  • 424.pdf
View BVdb publication page



Cystic Fibrosis Transmembrane Conductance Regulator (CFTR): CLOSED AND OPEN STATE CHANNEL MODELS.

The Journal Of Biological Chemistry
Corradi, Valentina V; Vergani, Paola P; Tieleman, D Peter DP
Publication Date: 2015-09-18

Variant appearance in text: CFTR: T338I
PubMed Link: 26229102
Variant Present in the following documents:
  • Main text
View BVdb publication page



Murine and human CFTR exhibit different sensitivities to CFTR potentiators.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Cui, Guiying G; McCarty, Nael A NA
Publication Date: 2015-10-01

Variant appearance in text: CFTR: T338I
PubMed Link: 26209275
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: T338I
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: 1013C>T; Thr338Ile
PubMed Link: 26014425
Variant Present in the following documents:
  • Main text
  • ejhg201599a.pdf
View BVdb publication page



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: 1013C>T; Thr338Ile
PubMed Link: 25910067
Variant Present in the following documents:
  • Main text
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: 1013C>T; T338I
PubMed Link: 25674778
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Journal Of Medical Case Reports
Dell'Edera, Domenico D; Benedetto, Michele M; Gadaleta, Gemma G; Carone, Domenico D; Salvatore, Donatello D; Angione, Antonella A; Gallo, Massimiliano M; Milo, Michele M; Pisaturo, Maria Laura ML; Di Pierro, Giuseppe G; Mazzone, Eleonora E; Epifania, Annunziata Anna AA
Publication Date: 2014-10-10

Variant appearance in text: CFTR: T338I
PubMed Link: 25304080
Variant Present in the following documents:
  • Main text
  • 1752-1947-8-339.pdf
View BVdb publication page



Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.

Plos Genetics
LaRusch, Jessica J; Jung, Jinsei J; General, Ignacio J IJ; Lewis, Michele D MD; Park, Hyun Woo HW; Brand, Randall E RE; Gelrud, Andres A; Anderson, Michelle A MA; Banks, Peter A PA; Conwell, Darwin D; Lawrence, Christopher C; Romagnuolo, Joseph J; Baillie, John J; Alkaade, Samer S; Cote, Gregory G; Gardner, Timothy B TB; Amann, Stephen T ST; Slivka, Adam A; Sandhu, Bimaljit B; Aloe, Amy A; Kienholz, Michelle L ML; Yadav, Dhiraj D; Barmada, M Michael MM; Bahar, Ivet I; Lee, Min Goo MG; Whitcomb, David C DC; ,
Publication Date: 2014-07

Variant appearance in text: CFTR: T338I
PubMed Link: 25033378
Variant Present in the following documents:
  • Main text
  • pgen.1004376.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: rs77409459
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



Cystic fibrosis transmembrane conductance regulator (CFTR) allelic variants relate to shifts in faecal microbiota of cystic fibrosis patients.

Plos One
Schippa, Serena S; Iebba, Valerio V; Santangelo, Floriana F; Gagliardi, Antonella A; De Biase, Riccardo Valerio RV; Stamato, Antonella A; Bertasi, Serenella S; Lucarelli, Marco M; Conte, Maria Pia MP; Quattrucci, Serena S
Publication Date: 2013

Variant appearance in text: CFTR: T338I
PubMed Link: 23613805
Variant Present in the following documents:
  • Main text
View BVdb publication page



An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Lazarin, Gabriel A GA; Haque, Imran S IS; Nazareth, Shivani S; Iori, Kevin K; Patterson, A Scott AS; Jacobson, Jessica L JL; Marshall, John R JR; Seltzer, William K WK; Patrizio, Pasquale P; Evans, Eric A EA; Srinivasan, Balaji S BS
Publication Date: 2013-03

Variant appearance in text: CFTR: T338I
PubMed Link: 22975760
Variant Present in the following documents:
  • gim2012114x1.pdf
View BVdb publication page



Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis.

Human Mutation
Masica, David L DL; Sosnay, Patrick R PR; Cutting, Garry R GR; Karchin, Rachel R
Publication Date: 2012-08

Variant appearance in text: CFTR: T338I
PubMed Link: 22573477
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prenatal screening of Cystic Fibrosis: a single centre experience.

Journal Of Prenatal Medicine
Bizzoco, Domenico D; Mesoraca, Alvaro A; Cima, Antonella A; Sarti, Monica M; Di Giacomo, Gianluca G; Scerra, Giovanna G; Barone, Maria Antonietta MA; Di Natale, Manuela M; Gabrielli, Ivan I; Tamburino, Caterina C; Scargiali, Claudia C; Ernandez, Cristina C; D'Aleo, Maria Pia MP; Todini, Michele M; Pompili, Rita R; Mobili, Luisa L; Mangiafico, Lucia L; Carcioppolo, Ornella O; Coco, Claudio C; Cignini, Pietro P; D'Emidio, Laura L; Girgenti, Alessandra A; Brizzi, Cristiana C; Cavaliere, Alessandro A; Giorlandino, Claudio C
Publication Date: 2008-01

Variant appearance in text: CFTR: T338I
PubMed Link: 22439019
Variant Present in the following documents:
  • Main text
View BVdb publication page



The K+ channel opener 1-EBIO potentiates residual function of mutant CFTR in rectal biopsies from cystic fibrosis patients.

Plos One
Roth, Eva K EK; Hirtz, Stephanie S; Duerr, Julia J; Wenning, Daniel D; Eichler, Irmgard I; Seydewitz, Hans H HH; Amaral, Margarida D MD; Mall, Marcus A MA
Publication Date: 2011

Variant appearance in text: CFTR: T338I
PubMed Link: 21909392
Variant Present in the following documents:
  • Main text
  • pone.0024445.pdf
View BVdb publication page



Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols.

Asian Journal Of Andrology
Giuliani, Rossella R; Antonucci, Ivana I; Torrente, Isabella I; Grammatico, Paola P; Palka, Giandomenico G; Stuppia, Liborio L
Publication Date: 2010-11

Variant appearance in text: CFTR: T338I
PubMed Link: 20657600
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: T338I
PubMed Link: 20616359
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: THR338ILE
PubMed Link: 19357641
Variant Present in the following documents:
  • msb200916-s1.pdf
View BVdb publication page



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: T338I
PubMed Link: 18456578
Variant Present in the following documents:
  • Main text
View BVdb publication page



Direct interaction with filamins modulates the stability and plasma membrane expression of CFTR.

The Journal Of Clinical Investigation
Thelin, William R WR; Chen, Yun Y; Gentzsch, Martina M; Kreda, Silvia M SM; Sallee, Jennifer L JL; Scarlett, Cameron O CO; Borchers, Christoph H CH; Jacobson, Ken K; Stutts, M Jackson MJ; Milgram, Sharon L SL
Publication Date: 2007-02

Variant appearance in text: CFTR: T338I
PubMed Link: 17235394
Variant Present in the following documents:
  • Main text
View BVdb publication page



A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening.

The Journal Of Molecular Diagnostics : Jmd
Faà, Valeria V; Bettoli, Pietro Pellegrini PP; Demurtas, Maria M; Zanda, Maurizio M; Ferri, Vincenzina V; Cao, Antonio A; Rosatelli, Maria Cristina MC
Publication Date: 2006-09

Variant appearance in text: CFTR: T338I
PubMed Link: 16931591
Variant Present in the following documents:
  • Main text
View BVdb publication page



A haplotype framework for cystic fibrosis mutations in Iran.

The Journal Of Molecular Diagnostics : Jmd
Elahi, Elahe E; Khodadad, Ahmad A; Kupershmidt, Ilya I; Ghasemi, Fereshteh F; Alinasab, Babak B; Naghizadeh, Ramin R; Eason, Robert G RG; Amini, Mahshid M; Esmaili, Mehran M; Esmaeili Dooki, Mohammad R MR; Sanati, Mohammad H MH; Davis, Ronald W RW; Ronaghi, Mostafa M; Thorstenson, Yvonne R YR
Publication Date: 2006-02

Variant appearance in text: CFTR: T338I
PubMed Link: 16436643
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: T338I
PubMed Link: 16049310
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.

Bmc Medical Genetics
D'Apice, Maria Rosaria MR; Gambardella, Stefano S; Bengala, Mario M; Russo, Silvia S; Nardone, Anna Maria AM; Lucidi, Vincenzina V; Sangiuolo, Federica F; Novelli, Giuseppe G
Publication Date: 2004-04-14

Variant appearance in text: CFTR: T338I
PubMed Link: 15084222
Variant Present in the following documents:
  • Main text
  • 1471-2350-5-8.pdf
View BVdb publication page