CFTR c.3230T>C ;(p.L1077P)

Variant ID: 7-117251725-T-C

NM_000492.3(CFTR):c.3230T>C;(p.L1077P)

This variant was identified in 61 publications

View GRCh38 version.




Publications:


Lack of association between leptin concentrations and cystic fibrosis: A meta-analysis and regression.

Frontiers In Endocrinology
Qi, Hong H; Liu, Hairong H; Zheng, Pengcheng P; He, Jie J
Publication Date: 2023

Variant appearance in text: CFTR: Leu1077Pro
PubMed Link: 36992806
Variant Present in the following documents:
  • fendo-14-1126129.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: 3230T>C; Leu1077Pro
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: L1077P
PubMed Link: 36670555
Variant Present in the following documents:
  • children-10-00004.pdf
View BVdb publication page



Cystic Fibrosis and Oxidative Stress: The Role of CFTR.

Molecules (Basel, Switzerland)
Moliteo, Evelina E; Sciacca, Monica M; Palmeri, Antonino A; Papale, Maria M; Manti, Sara S; Parisi, Giuseppe Fabio GF; Leonardi, Salvatore S
Publication Date: 2022-08-21

Variant appearance in text: CFTR: Leu1077Pro
PubMed Link: 36014562
Variant Present in the following documents:
  • molecules-27-05324.pdf
View BVdb publication page



Translational Research in Cystic Fibrosis: From Bench to Beside.

Frontiers In Pediatrics
Garcia, Laura de Castro E LCE; Petry, Lucas Montiel LM; Germani, Pedro Augusto Van Der Sand PAVS; Xavier, Luiza Fernandes LF; de Barros, Paula Barros PB; Meneses, Amanda da Silva ADS; Prestes, Laura Menestrino LM; Bittencourt, Luana Braga LB; Pieta, Marina Puerari MP; Friedrich, Frederico F; Pinto, Leonardo Araújo LA
Publication Date: 2022

Variant appearance in text: CFTR: L1077P
PubMed Link: 35652053
Variant Present in the following documents:
  • Main text
  • fped-10-881470.pdf
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: L1077P
PubMed Link: 35647563
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.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: L1077P
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: 3230T>C; L1077P
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Rare Trafficking CFTR Mutations Involve Distinct Cellular Retention Machineries and Require Different Rescuing Strategies.

International Journal Of Molecular Sciences
Ramalho, Sofia S SS; Silva, Iris A L IAL; Amaral, Margarida D MD; Farinha, Carlos M CM
Publication Date: 2021-12-21

Variant appearance in text: CFTR: L1077P
PubMed Link: 35008443
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare Trafficking CFTR Mutations Involve Distinct Cellular Retention Machineries and Require Different Rescuing Strategies.

International Journal Of Molecular Sciences
Ramalho, Sofia S SS; Silva, Iris A L IAL; Amaral, Margarida D MD; Farinha, Carlos M CM
Publication Date: 2021-12-21

Variant appearance in text: CFTR: L1077P
PubMed Link: 35008443
Variant Present in the following documents:
  • Main text
View BVdb publication page



SARS-CoV-2 antibodies among people with cystic fibrosis prior to the vaccination campaign: A seroprevalence study in two specialized centres in Northern Italy.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Alicandro, Gianfranco G; Daccó, Valeria V; Cariani, Lisa L; Contarini, Martina M; Morlacchi, Letizia Corinna LC; Rosazza, Chiara C; Sciarrabba, Calogero Sathya CS; Ferraro, Federica F; Orena, Beatrice Silvia BS; Gramegna, Andrea A; Blasi, Francesco F; Colombo, Carla C
Publication Date: 2021-12-13

Variant appearance in text: CFTR: L1077P
PubMed Link: 34949558
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



SARS-CoV-2 antibodies among people with cystic fibrosis prior to the vaccination campaign: A seroprevalence study in two specialized centres in Northern Italy.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Alicandro, Gianfranco G; Daccó, Valeria V; Cariani, Lisa L; Contarini, Martina M; Morlacchi, Letizia Corinna LC; Rosazza, Chiara C; Sciarrabba, Calogero Sathya CS; Ferraro, Federica F; Orena, Beatrice Silvia BS; Gramegna, Andrea A; Blasi, Francesco F; Colombo, Carla C
Publication Date: 2022-03

Variant appearance in text: CFTR: L1077P
PubMed Link: 34949558
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Cystic Fibrosis Transmembrane Conductance Regulator Folding Mutations Reveal Differences in Corrector Efficacy Linked to Increases in Immature Cystic Fibrosis Transmembrane Conductance Regulator Expression.

Frontiers In Physiology
Peters, Kathryn W KW; Gong, Xiaoyan X; Frizzell, Raymond A RA
Publication Date: 2021

Variant appearance in text: CFTR: L1077P
PubMed Link: 34764878
Variant Present in the following documents:
  • Main text
  • fphys-12-695767.pdf
  • Table_1.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: rs139304906
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: rs139304906
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



A Precision Medicine Approach to Optimize Modulator Therapy for Rare CFTR Folding Mutants.

Journal Of Personalized Medicine
Veit, Guido G; Velkov, Tony T; Xu, Haijin H; Vadeboncoeur, Nathalie N; Bilodeau, Lara L; Matouk, Elias E; Lukacs, Gergely L GL
Publication Date: 2021-07-07

Variant appearance in text: CFTR: L1077P
PubMed Link: 34357110
Variant Present in the following documents:
  • Main text
  • jpm-11-00643.pdf
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: 3230T>C; Leu1077Pro; rs139304906
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.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: L1077P
PubMed Link: 32934006
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Allosteric folding correction of F508del and rare CFTR mutants by elexacaftor-tezacaftor-ivacaftor (Trikafta) combination.

Jci Insight
Veit, Guido G; Roldan, Ariel A; Hancock, Mark A MA; Da Fonte, Dillon F DF; Xu, Haijin H; Hussein, Maytham M; Frenkiel, Saul S; Matouk, Elias E; Velkov, Tony T; Lukacs, Gergely L GL
Publication Date: 2020-09-17

Variant appearance in text: CFTR: L1077P
PubMed Link: 32853178
Variant Present in the following documents:
  • Main text
  • jciinsight-5-139983.pdf
  • jciinsight-5-139983-s205.pdf
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: CFTR: 3230T>C; Leu1077Pro
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



Abstracts from the 25th Italian Congress of Cystic Fibrosis and the 15th National Congress of Cystic Fibrosis Italian Society : Assago, Milan. 10 - 12 October 2019.

Italian Journal Of Pediatrics
Publication Date: 2020-04-01

Variant appearance in text: CFTR: L1077P
PubMed Link: 32234058
Variant Present in the following documents:
  • Main text
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: L1077P
PubMed Link: 32153386
Variant Present in the following documents:
  • Main text
  • fphar-10-01662.pdf
View BVdb publication page



Essential oils against bacterial isolates from cystic fibrosis patients by means of antimicrobial and unsupervised machine learning approaches.

Scientific Reports
Ragno, Rino R; Papa, Rosanna R; Patsilinakos, Alexandros A; Vrenna, Gianluca G; Garzoli, Stefania S; Tuccio, Vanessa V; Fiscarelli, ErsiliaVita E; Selan, Laura L; Artini, Marco M
Publication Date: 2020-02-14

Variant appearance in text: CFTR: L1077P
PubMed Link: 32060344
Variant Present in the following documents:
  • Main text
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: 3230T>C; L1077P
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



Nanomolar-potency 'co-potentiator' therapy for cystic fibrosis caused by a defined subset of minimal function CFTR mutants.

Scientific Reports
Phuan, Puay-Wah PW; Tan, Joseph-Anthony JA; Rivera, Amber A AA; Zlock, Lorna L; Nielson, Dennis W DW; Finkbeiner, Walter E WE; Haggie, Peter M PM; Verkman, Alan S AS
Publication Date: 2019-11-27

Variant appearance in text: CFTR: L1077P
PubMed Link: 31776420
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_54158.pdf
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: 3230T>C; Leu1077Pro; rs139304906
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: 3230T>C; L1077P
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Steric Inhibition of 5' UTR Regulatory Elements Results in Upregulation of Human CFTR.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Sasaki, Shruti S; Sun, Rachel R; Bui, Huynh-Hoa HH; Crosby, Jeff R JR; Monia, Brett P BP; Guo, Shuling S
Publication Date: 2019-10-02

Variant appearance in text: CFTR: L1077P
PubMed Link: 31351782
Variant Present in the following documents:
  • mmc2.pdf
  • main.pdf
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: CFTR: 3230T>C; Leu1077Pro
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
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: 3230T>C; L1077P
PubMed Link: 31036917
Variant Present in the following documents:
  • 41436_2019_525_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



HDAC inhibitors rescue multiple disease-causing CFTR variants.

Human Molecular Genetics
Anglès, Frédéric F; Hutt, Darren M DM; Balch, William E WE
Publication Date: 2019-06-15

Variant appearance in text: CFTR: L1077P
PubMed Link: 30753450
Variant Present in the following documents:
  • Main text
View BVdb publication page



Peripheral Protein Quality Control as a Novel Drug Target for CFTR Stabilizer.

Frontiers In Pharmacology
Fukuda, Ryosuke R; Okiyoneda, Tsukasa T
Publication Date: 2018

Variant appearance in text: CFTR: L1077P
PubMed Link: 30319426
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure-guided combination therapy to potently improve the function of mutant CFTRs.

Nature Medicine
Veit, Guido G; Xu, Haijin H; Dreano, Elise E; Avramescu, Radu G RG; Bagdany, Miklos M; Beitel, Lenore K LK; Roldan, Ariel A; Hancock, Mark A MA; Lay, Cecilia C; Li, Wei W; Morin, Katelin K; Gao, Sandra S; Mak, Puiying A PA; Ainscow, Edward E; Orth, Anthony P AP; McNamara, Peter P; Edelman, Aleksander A; Frenkiel, Saul S; Matouk, Elias E; Sermet-Gaudelus, Isabelle I; Barnes, William G WG; Lukacs, Gergely L GL
Publication Date: 2018-11

Variant appearance in text: CFTR: L1077P
PubMed Link: 30297908
Variant Present in the following documents:
  • Main text
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: L1077P
PubMed Link: 30134826
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel triple combination of pharmacological chaperones improves F508del-CFTR correction.

Scientific Reports
Carlile, Graeme W GW; Yang, Qi Q; Matthes, Elizabeth E; Liao, Jie J; Radinovic, Stevo S; Miyamoto, Carol C; Robert, Renaud R; Hanrahan, John W JW; Thomas, David Y DY
Publication Date: 2018-07-30

Variant appearance in text: CFTR: L1077P
PubMed Link: 30061653
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_29276.pdf
View BVdb publication page



Design of a Broad-Range Bacteriophage Cocktail That Reduces Pseudomonas aeruginosa Biofilms and Treats Acute Infections in Two Animal Models.

Antimicrobial Agents And Chemotherapy
Forti, Francesca F; Roach, Dwayne R DR; Cafora, Marco M; Pasini, Maria E ME; Horner, David S DS; Fiscarelli, Ersilia V EV; Rossitto, Martina M; Cariani, Lisa L; Briani, Federica F; Debarbieux, Laurent L; Ghisotti, Daniela D
Publication Date: 2018-06

Variant appearance in text: CFTR: L1077P
PubMed Link: 29555626
Variant Present in the following documents:
  • AAC.02573-17_zac005187170s1.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: rs139304906
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Mutation-specific downregulation of CFTR2 variants by gating potentiators.

Human Molecular Genetics
Avramescu, Radu G RG; Kai, Yukari Y; Xu, Haijin H; Bidaud-Meynard, Aurélien A; Schnúr, Andrea A; Frenkiel, Saul S; Matouk, Elias E; Veit, Guido G; Lukacs, Gergely L GL
Publication Date: 2017-12-15

Variant appearance in text: CFTR: L1077P
PubMed Link: 29040544
Variant Present in the following documents:
  • Main text
View BVdb publication page



The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics
Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M
Publication Date: 2017-09

Variant appearance in text: CFTR: 3230T>C; Leu1077Pro; rs139304906
PubMed Link: 28957316
Variant Present in the following documents:
  • pgen.1006915.s002.xlsx, sheet 1
View BVdb publication page



A Different Microbiome Gene Repertoire in the Airways of Cystic Fibrosis Patients with Severe Lung Disease.

International Journal Of Molecular Sciences
Bacci, Giovanni G; Mengoni, Alessio A; Fiscarelli, Ersilia E; Segata, Nicola N; Taccetti, Giovanni G; Dolce, Daniela D; Paganin, Patrizia P; Morelli, Patrizia P; Tuccio, Vanessa V; De Alessandri, Alessandra A; Lucidi, Vincenzina V; Bevivino, Annamaria A
Publication Date: 2017-07-29

Variant appearance in text: CFTR: L1077P
PubMed Link: 28758937
Variant Present in the following documents:
  • Main text
View BVdb publication page



Combination of Correctors Rescues CFTR Transmembrane-Domain Mutants by Mitigating their Interactions with Proteostasis.

Cellular Physiology And Biochemistry : International Journal Of Experimental Cellular Physiology, Biochemistry, And Pharmacology
Lopes-Pacheco, Miquéias M; Boinot, Clément C; Sabirzhanova, Inna I; Rapino, Daniele D; Cebotaru, Liudmila L
Publication Date: 2017

Variant appearance in text: CFTR: L1077P
PubMed Link: 28448979
Variant Present in the following documents:
  • Main text
  • NIHMS1563253-supplement-Supplementary_Material.pdf
  • nihms-1563253.pdf
View BVdb publication page



A novel treatment of cystic fibrosis acting on-target: cysteamine plus epigallocatechin gallate for the autophagy-dependent rescue of class II-mutated CFTR.

Cell Death And Differentiation
Tosco, A A; De Gregorio, F F; Esposito, S S; De Stefano, D D; Sana, I I; Ferrari, E E; Sepe, A A; Salvadori, L L; Buonpensiero, P P; Di Pasqua, A A; Grassia, R R; Leone, C A CA; Guido, S S; De Rosa, G G; Lusa, S S; Bona, G G; Stoll, G G; Maiuri, M C MC; Mehta, A A; Kroemer, G G; Maiuri, L L; Raia, V V
Publication Date: 2016-08

Variant appearance in text: CFTR: L1077P
PubMed Link: 27035618
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: L1077P
PubMed Link: 26823392
Variant Present in the following documents:
  • Main text
  • 424.pdf
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: L1077P
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: 3230T>C; Leu1077Pro
PubMed Link: 26014425
Variant Present in the following documents:
  • Main text
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: 3230T>C; L1077P
PubMed Link: 25910067
Variant Present in the following documents:
  • Main text
View BVdb publication page



Changes in cystic fibrosis airway microbial community associated with a severe decline in lung function.

Plos One
Paganin, Patrizia P; Fiscarelli, Ersilia Vita EV; Tuccio, Vanessa V; Chiancianesi, Manuela M; Bacci, Giovanni G; Morelli, Patrizia P; Dolce, Daniela D; Dalmastri, Claudia C; De Alessandri, Alessandra A; Lucidi, Vincenzina V; Taccetti, Giovanni G; Mengoni, Alessio A; Bevivino, Annamaria A
Publication Date: 2015

Variant appearance in text: CFTR: L1077P
PubMed Link: 25898134
Variant Present in the following documents:
  • pone.0124348.s003.pdf
  • pone.0124348.s004.pdf
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Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Baker, Mei W MW; Atkins, Anne E AE; Cordovado, Suzanne K SK; Hendrix, Miyono M; Earley, Marie C MC; Farrell, Philip M PM
Publication Date: 2016-03

Variant appearance in text: CFTR: 3230T>C; L1077P
PubMed Link: 25674778
Variant Present in the following documents:
  • Main text
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Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.

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

Variant appearance in text: CFTR: L1077P
PubMed Link: 25304080
Variant Present in the following documents:
  • Main text
  • 1752-1947-8-339.pdf
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Phenotypic expression of the p.Leu1077Pro CFTR mutation in Sicilian cystic fibrosis patients.

Bmc Research Notes
Parisi, Giuseppe Fabio GF; Cutello, Silvia S; Di Dio, Giovanna G; Rotolo, Novella N; La Rosa, Mario M; Leonardi, Salvatore S
Publication Date: 2013-11-13

Variant appearance in text: CFTR: L1077P
PubMed Link: 24225052
Variant Present in the following documents:
  • Main text
  • 1756-0500-6-461.pdf
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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Nature Genetics
Sosnay, Patrick R PR; Siklosi, Karen R KR; Van Goor, Fredrick F; Kaniecki, Kyle K; Yu, Haihui H; Sharma, Neeraj N; Ramalho, Anabela S AS; Amaral, Margarida D MD; Dorfman, Ruslan R; Zielenski, Julian J; Masica, David L DL; Karchin, Rachel R; Millen, Linda L; Thomas, Philip J PJ; Patrinos, George P GP; Corey, Mary M; Lewis, Michelle H MH; Rommens, Johanna M JM; Castellani, Carlo C; Penland, Christopher M CM; Cutting, Garry R GR
Publication Date: 2013-10

Variant appearance in text: rs139304906
PubMed Link: 23974870
Variant Present in the following documents:
  • NIHMS512446-supplement-12.xlsx, sheet 1
  • NIHMS512446-supplement-12.xlsx, sheet 2
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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: L1077P
PubMed Link: 23613805
Variant Present in the following documents:
  • Main text
  • pone.0061176.pdf
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The use of DHPLC (Denaturing High Performance Liquid Chromatography) in II level screening of the CFTR gene in Prenatal Diagnosis.

Journal Of Prenatal Medicine
Mesoraca, Alvaro A; Di Natale, Manuela M; Cima, Antonella A; Di Giacomo, Gianluca G; Sarti, Monica M; Barone, Maria Antonietta MA; Bizzoco, Domenico D; Cignini, Pietro P; Mobili, Luisa L; Dʼemidio, Laura L; Giorlandino, Claudio C
Publication Date: 2010-07

Variant appearance in text: CFTR: L1077P
PubMed Link: 22439061
Variant Present in the following documents:
  • Main text
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Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele.

Genetics And Molecular Biology
Polizzi, Angela A; Tesse, Riccardina R; Santostasi, Teresa T; Diana, Anna A; Manca, Antonio A; Logrillo, Vito Paolo VP; Cazzato, Maria Domenica MD; Pantaleo, Maria Giuseppa MG; Armenio, Lucio L
Publication Date: 2011-07

Variant appearance in text: CFTR: L1077P
PubMed Link: 21931512
Variant Present in the following documents:
  • Main text
  • gmb-34-3-416.pdf
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