CFTR c.3194T>C ;(p.L1065P)

Variant ID: 7-117251689-T-C

NM_000492.3(CFTR):c.3194T>C;(p.L1065P)

This variant was identified in 41 publications

View GRCh38 version.




Publications:


Elexacaftor-Tezacaftor-Ivacaftor: A Life-Changing Triple Combination of CFTR Modulator Drugs for Cystic Fibrosis.

Pharmaceuticals (Basel, Switzerland)
Bacalhau, Mafalda M; Camargo, Mariana M; Magalhães-Ghiotto, Grace A V GAV; Drumond, Sybelle S; Castelletti, Carlos Henrique M CHM; Lopes-Pacheco, Miquéias M
Publication Date: 2023-03-08

Variant appearance in text: CFTR: L1065P
PubMed Link: 36986509
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-16-00410.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: 3194T>C; Leu1065Pro
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Effect of Dornase Alfa on the Lung Clearance Index in Children with Cystic Fibrosis: A Lesson from a Case Series.

Children (Basel, Switzerland)
Terlizzi, Vito V; Parisi, Giuseppe Fabio GF; Ferrari, Beatrice B; Castellani, Chiara C; Manti, Sara S; Leonardi, Salvatore S; Taccetti, Giovanni G
Publication Date: 2022-10-26

Variant appearance in text: CFTR: L1065P
PubMed Link: 36360353
Variant Present in the following documents:
  • Main text
  • children-09-01625.pdf
View BVdb publication page



Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience.

International Journal Of Neonatal Screening
Bianchimani, Chiara C; Dolce, Daniela D; Centrone, Claudia C; Campana, Silvia S; Ravenni, Novella N; Orioli, Tommaso T; Camera, Erica E; Mergni, Gianfranco G; Fevola, Cristina C; Bonomi, Paolo P; Taccetti, Giovanni G; Terlizzi, Vito V
Publication Date: 2022-08-03

Variant appearance in text: CFTR: L1065P
PubMed Link: 35997436
Variant Present in the following documents:
  • IJNS-08-00046.pdf
View BVdb publication page



Early Effects of Elexacaftor-Tezacaftor-Ivacaftor Therapy on Magnetic Resonance Imaging in Patients with Cystic Fibrosis and Advanced Lung Disease.

Journal Of Clinical Medicine
Macconi, Letizia L; Galici, Valeria V; Di Maurizio, Marco M; Rossi, Enrica E; Taccetti, Giovanni G; Terlizzi, Vito V
Publication Date: 2022-07-22

Variant appearance in text: CFTR: L1065P
PubMed Link: 35893365
Variant Present in the following documents:
  • Main text
  • jcm-11-04277.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: L1065P
PubMed Link: 35418593
Variant Present in the following documents:
  • 42003_2022_Article_3302.pdf
View BVdb publication page



Clinical characteristics and outcome of SARS -CoV-2 infection in patients with cystic fibrosis managed at home.

Pulmonology
Terlizzi, V V; Francalanci, M M; Taccetti, G G
Publication Date: 2022

Variant appearance in text: CFTR: L1065P
PubMed Link: 34852971
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Clinical characteristics and outcome of SARS -CoV-2 infection in patients with cystic fibrosis managed at home.

Pulmonology
Terlizzi, V V; Francalanci, M M; Taccetti, G G
Publication Date: 2021-11-15

Variant appearance in text: CFTR: L1065P
PubMed Link: 34852971
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: L1065P
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: rs121909036
PubMed Link: 34740355
Variant Present in the following documents:
  • 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Theratyping cystic fibrosis in vitro in ALI culture and organoid models generated from patient-derived nasal epithelial conditionally reprogrammed stem cells.

The European Respiratory Journal
Sette, Giovanni G; Lo Cicero, Stefania S; Blaconà, Giovanna G; Pierandrei, Silvia S; Bruno, Sabina Maria SM; Salvati, Valentina V; Castelli, Germana G; Falchi, Mario M; Fabrizzi, Benedetta B; Cimino, Giuseppe G; De Maria, Ruggero R; Biffoni, Mauro M; Eramo, Adriana A; Lucarelli, Marco M
Publication Date: 2021-12

Variant appearance in text: CFTR: L1065P
PubMed Link: 34413153
Variant Present in the following documents:
  • Main text
  • ERJ-00908-2021.pdf
View BVdb publication page



Theratyping cystic fibrosis in vitro in ALI culture and organoid models generated from patient-derived nasal epithelial conditionally reprogrammed stem cells.

The European Respiratory Journal
Sette, Giovanni G; Lo Cicero, Stefania S; Blaconà, Giovanna G; Pierandrei, Silvia S; Bruno, Sabina Maria SM; Salvati, Valentina V; Castelli, Germana G; Falchi, Mario M; Fabrizzi, Benedetta B; Cimino, Giuseppe G; De Maria, Ruggero R; Biffoni, Mauro M; Eramo, Adriana A; Lucarelli, Marco M
Publication Date: 2021-12

Variant appearance in text: CFTR: L1065P
PubMed Link: 34413153
Variant Present in the following documents:
  • Main text
  • ERJ-00908-2021.pdf
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: L1065P
PubMed Link: 32934006
Variant Present in the following documents:
  • mmc1.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: 3194T>C; Leu1065Pro
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
  • aba1773_Data_file_S1.xlsx, sheet 3
  • aba1773_Data_file_S1.xlsx, sheet 4
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: L1065P
PubMed Link: 32630227
Variant Present in the following documents:
  • Main text
  • diagnostics-10-00446.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: 3194T>C; L1065P
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
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: 3194T>C; L1065P
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
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: L1065P
PubMed Link: 31173911
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: 3194T>C; Leu1065Pro; rs121909036
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: 3194T>C; Leu1065Pro
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: L1065P
PubMed Link: 26823392
Variant Present in the following documents:
  • Main text
  • 424.pdf
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: L1065P
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: L1065P
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: 3194T>C; L1065P
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: 3194T>C; L1065P
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: 3194T>C; L1065P
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: L1065P
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: L1065P
PubMed Link: 25033378
Variant Present in the following documents:
  • Main text
  • pgen.1004376.pdf
View BVdb publication page



Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters.

Pharmacological Research
Chiba, Peter P; Freissmuth, Michael M; Stockner, Thomas T
Publication Date: 2014-05

Variant appearance in text: CFTR: L1065P
PubMed Link: 24316454
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: rs121909036
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: L1065P
PubMed Link: 23613805
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional Rescue of F508del-CFTR Using Small Molecule Correctors.

Frontiers In Pharmacology
Molinski, Steven S; Eckford, Paul D W PD; Pasyk, Stan S; Ahmadi, Saumel S; Chin, Stephanie S; Bear, Christine E CE
Publication Date: 2012

Variant appearance in text: CFTR: L1065P
PubMed Link: 23055971
Variant Present in the following documents:
  • Main text
View BVdb publication page



Development of CFTR Structure.

Frontiers In Pharmacology
Patrick, Anna E AE; Thomas, Philip J PJ
Publication Date: 2012

Variant appearance in text: CFTR: L1065P
PubMed Link: 22973227
Variant Present in the following documents:
  • Main text
  • fphar-03-00162.pdf
View BVdb publication page



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: L1065P
PubMed Link: 22439061
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: L1065P
PubMed Link: 22439019
Variant Present in the following documents:
  • Main text
View BVdb publication page



Intragenic suppressing mutations correct the folding and intracellular traffic of misfolded mutants of Yor1p, a eukaryotic drug transporter.

The Journal Of Biological Chemistry
Pagant, Silvere S; Halliday, John J JJ; Kougentakis, Christos C; Miller, Elizabeth A EA
Publication Date: 2010-11-19

Variant appearance in text: CFTR: L1065P
PubMed Link: 20837481
Variant Present in the following documents:
  • Main text
View BVdb publication page



Restoration of domain folding and interdomain assembly by second-site suppressors of the DeltaF508 mutation in CFTR.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
He, Lihua L; Aleksandrov, Luba A LA; Cui, Liying L; Jensen, Timothy J TJ; Nesbitt, Kenneth L KL; Riordan, John R JR
Publication Date: 2010-08

Variant appearance in text: CFTR: L1065P
PubMed Link: 20233947
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: LEU1065PRO
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: L1065P
PubMed Link: 18456578
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Serohijos, Adrian W R AW; Hegedus, Tamás T; Aleksandrov, Andrei A AA; He, Lihua L; Cui, Liying L; Dokholyan, Nikolay V NV; Riordan, John R JR
Publication Date: 2008-03-04

Variant appearance in text: CFTR: L1065P
PubMed Link: 18305154
Variant Present in the following documents:
  • Main text
View BVdb publication page



The chemical chaperone CFcor-325 repairs folding defects in the transmembrane domains of CFTR-processing mutants.

The Biochemical Journal
Loo, Tip W TW; Bartlett, M Claire MC; Wang, Ying Y; Clarke, David M DM
Publication Date: 2006-05-01

Variant appearance in text: CFTR: L1065P
PubMed Link: 16417523
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: L1065P
PubMed Link: 15084222
Variant Present in the following documents:
  • Main text
  • 1471-2350-5-8.pdf
View BVdb publication page