CFTR c.1523T>G ;(p.F508C)

Variant ID: 7-117199648-T-G

NM_000492.3(CFTR):c.1523T>G;(p.F508C)

This variant was identified in 67 publications

View GRCh38 version.




Publications:


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: F508C
PubMed Link: 36670555
Variant Present in the following documents:
  • children-10-00004.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: F508C
PubMed Link: 35997436
Variant Present in the following documents:
  • Main text
  • IJNS-08-00046.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: F508C
PubMed Link: 35652053
Variant Present in the following documents:
  • Main text
  • fped-10-881470.pdf
View BVdb publication page



Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.

Diagnostics (Basel, Switzerland)
Almes, Marion M; Spraul, Anne A; Ruiz, Mathias M; Girard, Muriel M; Roquelaure, Bertrand B; Laborde, Nolwenn N; Gottrand, Fréderic F; Turquet, Anne A; Lamireau, Thierry T; Dabadie, Alain A; Bonneton, Marjorie M; Thebaut, Alice A; Rohmer, Babara B; Lacaille, Florence F; Broué, Pierre P; Fabre, Alexandre A; Mention-Mulliez, Karine K; Bouligand, Jérôme J; Jacquemin, Emmanuel E; Gonzales, Emmanuel E
Publication Date: 2022-05-07

Variant appearance in text: CFTR: 1523T>G; Phe508Cys
PubMed Link: 35626323
Variant Present in the following documents:
  • Main text
  • diagnostics-12-01169.pdf
View BVdb publication page



CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor.

Jci Insight
Raraigh, Karen S KS; Paul, Kathleen C KC; Goralski, Jennifer L JL; Worthington, Erin N EN; Faino, Anna V AV; Sciortino, Stanley S; Wang, Yiting Y; Aksit, Melis A MA; Ling, Hua H; Osorio, Derek L DL; Onchiri, Frankline M FM; Patel, Shivani U SU; Merlo, Christian A CA; Montemayor, Kristina K; Gibson, Ronald L RL; West, Natalie E NE; Thakerar, Amita A; Bridges, Robert J RJ; Sheppard, David N DN; Sharma, Neeraj N; Cutting, Garry R GR
Publication Date: 2022-03-22

Variant appearance in text: CFTR: 1523T>G; F508C
PubMed Link: 35315358
Variant Present in the following documents:
  • jciinsight-7-148841.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: 1523T>G; F508C
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Can two wrongs make a right? F508del-CFTR ion channel rescue by second-site mutations in its transmembrane domains.

The Journal Of Biological Chemistry
Prins, Stella S; Corradi, Valentina V; Sheppard, David N DN; Tieleman, D Peter DP; Vergani, Paola P
Publication Date: 2022-03

Variant appearance in text: CFTR: F508C
PubMed Link: 35065958
Variant Present in the following documents:
  • Main text
  • main.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: rs74571530
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: rs74571530
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?

Genes
Mekki, Chadia C; Aissat, Abdel A; Mirlesse, Véronique V; Mayer Lacrosniere, Sophie S; Eche, Elsa E; Le Floch, Annick A; Whalen, Sandra S; Prud'Homme, Cecile C; Remus, Christelle C; Funalot, Benoit B; Castaigne, Vanina V; Fanen, Pascale P; de Becdelièvre, Alix A
Publication Date: 2021-04-29

Variant appearance in text: CFTR: 1523T>G; F508C; rs74571530
PubMed Link: 33946859
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: F508C
PubMed Link: 33922413
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Frontiers In Oncology
Zimmermann, Michael T MT; Mathison, Angela J AJ; Stodola, Tim T; Evans, Douglas B DB; Abrudan, Jenica L JL; Demos, Wendy W; Tschannen, Michael M; Aldakkak, Mohammed M; Geurts, Jennifer J; Lomberk, Gwen G; Tsai, Susan S; Urrutia, Raul R
Publication Date: 2021

Variant appearance in text: CFTR: 1523T>G; Phe508Cys
PubMed Link: 33747920
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 6
View BVdb publication page



Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Genes
Bozdogan, Sevcan Tug ST; Mujde, Cem C; Boga, Ibrahim I; Sonmezler, Ozge O; Hanta, Abdullah A; Rencuzogullari, Cagla C; Ozcan, Dilek D; Altintas, Derya Ufuk DU; Bisgin, Atil A
Publication Date: 2021-01-31

Variant appearance in text: CFTR: F508C
PubMed Link: 33572515
Variant Present in the following documents:
  • Main text
  • genes-12-00206.pdf
View BVdb publication page



An Overview of the Application of Systems Biology in an Understanding of Chronic Rhinosinusitis (CRS) Development.

Journal Of Personalized Medicine
Michalik, Michał M; Samet, Alfred A; Dmowska-Koroblewska, Agnieszka A; Podbielska-Kubera, Adrianna A; Waszczuk-Jankowska, Małgorzata M; Struck-Lewicka, Wiktoria W; Markuszewski, Michał J MJ
Publication Date: 2020-11-26

Variant appearance in text: CFTR: F508C
PubMed Link: 33255995
Variant Present in the following documents:
  • Main text
  • jpm-10-00245.pdf
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: F508C
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Cystic fibrosis diagnosed by state newborn screening: Or is it?

Sage Open Medical Case Reports
Fox, Maura M; Mercier, Angelique A; Savant, Adrienne A; Laguna, Theresa A TA
Publication Date: 2020

Variant appearance in text: CFTR: F508C
PubMed Link: 32670584
Variant Present in the following documents:
  • Main text
  • 10.1177_2050313X20939421.pdf
View BVdb publication page



The true panel of cystic fibrosis mutations in the Sicilian population.

Bmc Medical Genetics
Chamayou, Sandrine S; Sicali, Maria M; Lombardo, Debora D; Maglia, Elena E; Liprino, Annalisa A; Cardea, Clementina C; Fichera, Michele M; Venti, Ermanno E; Guglielmino, Antonino A
Publication Date: 2020-05-01

Variant appearance in text: CFTR: F508C
PubMed Link: 32357917
Variant Present in the following documents:
  • Main text
  • 12881_2020_Article_958.pdf
View BVdb publication page



Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Plos One
Ivey, Gabrianne G; Youker, Robert T RT
Publication Date: 2020

Variant appearance in text: CFTR: F508C
PubMed Link: 31978131
Variant Present in the following documents:
  • Main text
  • pone.0227668.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: 1523T>G; F508C
PubMed Link: 31828483
Variant Present in the following documents:
  • 10815_2019_Article_1635.pdf
View BVdb publication page



VX-770-mediated potentiation of numerous human CFTR disease mutants is influenced by phosphorylation level.

Scientific Reports
Cui, Guiying G; Stauffer, Brandon B BB; Imhoff, Barry R BR; Rab, Andras A; Hong, Jeong S JS; Sorscher, Eric J EJ; McCarty, Nael A NA
Publication Date: 2019-09-17

Variant appearance in text: CFTR: F508C
PubMed Link: 31530897
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_49921.pdf
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: 1523T>G; F508C
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Atypical presentation of cystic fibrosis at 70 years of age.

Bmj Case Reports
Saleem, Muhammad Adnan MA; Phillips, Aled A; Ganaie, Muhammad Badar MB
Publication Date: 2019-06-03

Variant appearance in text: CFTR: phe508cys
PubMed Link: 31164380
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence of abnormal glucose metabolism in pediatric acute, acute recurrent and chronic pancreatitis.

Plos One
Abu-El-Haija, Maisam M; Hornung, Lindsey L; Denson, Lee A LA; Husami, Ammar A; Lin, Tom K TK; Matlock, Kristal K; Nathan, Jaimie D JD; Palermo, Joseph J JJ; Thompson, Tyler T; Valencia, C Alexander CA; Wang, Xinjian X; Woo, Jessica J; Zhang, Keijan K; Elder, Deborah D
Publication Date: 2018

Variant appearance in text: CFTR: F508C
PubMed Link: 30379828
Variant Present in the following documents:
  • Main text
  • pone.0204979.pdf
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: 1523T>G; Phe508Cys
PubMed Link: 29805046
Variant Present in the following documents:
  • Main text
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: rs74571530
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
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: 1523T>G; Phe508Cys
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: 1523T>G; F508C
PubMed Link: 28261631
Variant Present in the following documents:
  • Main text
  • nihms822513.pdf
View BVdb publication page



Genophenotypic Analysis of Pediatric Patients With Acute Recurrent and Chronic Pancreatitis.

Pancreas
Palermo, Joseph J JJ; Lin, Tom K TK; Hornung, Lindsey L; Valencia, C Alexander CA; Mathur, Abhinav A; Jackson, Kimberly K; Fei, Lin L; Abu-El-Haija, Maisam M
Publication Date: 2016-10

Variant appearance in text: CFTR: F508C
PubMed Link: 27171515
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: F508C
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: 1523T>G; F508C
PubMed Link: 26014425
Variant Present in the following documents:
  • Main text
View BVdb publication page



Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Richards, Sue S; Aziz, Nazneen N; Bale, Sherri S; Bick, David D; Das, Soma S; Gastier-Foster, Julie J; Grody, Wayne W WW; Hegde, Madhuri M; Lyon, Elaine E; Spector, Elaine E; Voelkerding, Karl K; Rehm, Heidi L HL; ,
Publication Date: 2015-05

Variant appearance in text: CFTR: 1523T>G; F508C
PubMed Link: 25741868
Variant Present in the following documents:
  • Main text
  • nihms697486.pdf
View BVdb publication page



De novo mutations in moderate or severe intellectual disability.

Plos Genetics
Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL
Publication Date: 2014-10

Variant appearance in text: CFTR: F508C
PubMed Link: 25356899
Variant Present in the following documents:
  • pgen.1004772.s004.xlsx, sheet 41
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: F508C
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: F508C
PubMed Link: 25033378
Variant Present in the following documents:
  • Main text
  • pgen.1004376.pdf
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: F508C
PubMed Link: 24517344
Variant Present in the following documents:
  • Main text
  • 1465-9921-15-18.pdf
View BVdb publication page



Neonates with cystic fibrosis have a reduced nasal liquid pH; a small pilot study.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Abou Alaiwa, Mahmoud H MH; Beer, Alison M AM; Pezzulo, Alejandro A AA; Launspach, Janice L JL; Horan, Rebecca A RA; Stoltz, David A DA; Starner, Timothy D TD; Welsh, Michael J MJ; Zabner, Joseph J
Publication Date: 2014-07

Variant appearance in text: CFTR: F508C
PubMed Link: 24418186
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: F508C
PubMed Link: 22975760
Variant Present in the following documents:
  • gim2012114x1.pdf
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: F508C
PubMed Link: 22439019
Variant Present in the following documents:
  • Main text
View BVdb publication page



CFTR mutation analysis and haplotype associations in CF patients.

Molecular Genetics And Metabolism
Cordovado, S K SK; Hendrix, M M; Greene, C N CN; Mochal, S S; Earley, M C MC; Farrell, P M PM; Kharrazi, M M; Hannon, W H WH; Mueller, P W PW
Publication Date: 2012-02

Variant appearance in text: CFTR: F508C
PubMed Link: 22137130
Variant Present in the following documents:
  • Main text
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: F508C
PubMed Link: 22043142
Variant Present in the following documents:
  • Main text
View BVdb publication page



Issues in the management of simple and complex meconium ileus.

Pediatric Surgery International
Karimi, A A; Gorter, R R RR; Sleeboom, Chr C; Kneepkens, C M F CM; Heij, H A HA
Publication Date: 2011-09

Variant appearance in text: CFTR: F508C
PubMed Link: 21512809
Variant Present in the following documents:
  • Main text
  • 383_2011_Article_2906.pdf
View BVdb publication page



Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis.

Gastroenterology
Schneider, Alexander A; Larusch, Jessica J; Sun, Xiumei X; Aloe, Amy A; Lamb, Janette J; Hawes, Robert R; Cotton, Peter P; Brand, Randall E RE; Anderson, Michelle A MA; Money, Mary E ME; Banks, Peter A PA; Lewis, Michele D MD; Baillie, John J; Sherman, Stuart S; Disario, James J; Burton, Frank R FR; Gardner, Timothy B TB; Amann, Stephen T ST; Gelrud, Andres A; George, Ryan R; Rockacy, Matthew J MJ; Kassabian, Sirvart S; Martinson, Jeremy J; Slivka, Adam A; Yadav, Dhiraj D; Oruc, Nevin N; Barmada, M Michael MM; Frizzell, Raymond R; Whitcomb, David C DC
Publication Date: 2011-01

Variant appearance in text: CFTR: F508C
PubMed Link: 20977904
Variant Present in the following documents:
  • Main text
View BVdb publication page



The cystic fibrosis-causing mutation deltaF508 affects multiple steps in cystic fibrosis transmembrane conductance regulator biogenesis.

The Journal Of Biological Chemistry
Thibodeau, Patrick H PH; Richardson, John M JM; Wang, Wei W; Millen, Linda L; Watson, Jarod J; Mendoza, Juan L JL; Du, Kai K; Fischman, Sharon S; Senderowitz, Hanoch H; Lukacs, Gergely L GL; Kirk, Kevin K; Thomas, Philip J PJ
Publication Date: 2010-11-12

Variant appearance in text: CFTR: F508C
PubMed Link: 20667826
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: 1523T>G; F508C
PubMed Link: 20616359
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Chandrasekharan, Subhashini S; Heaney, Christopher C; James, Tamara T; Conover, Chris C; Cook-Deegan, Robert R
Publication Date: 2010-04

Variant appearance in text: CFTR: F508C
PubMed Link: 20393308
Variant Present in the following documents:
  • Main text
View BVdb publication page



Development of genomic reference materials for cystic fibrosis genetic testing.

The Journal Of Molecular Diagnostics : Jmd
Pratt, Victoria M VM; Caggana, Michele M; Bridges, Christina C; Buller, Arlene M AM; DiAntonio, Lisa L; Highsmith, W Edward WE; Holtegaard, Leonard M LM; Muralidharan, Kasinathan K; Rohlfs, Elizabeth M EM; Tarleton, Jack J; Toji, Lorraine L; Barker, Shannon D SD; Kalman, Lisa V LV
Publication Date: 2009-05

Variant appearance in text: CFTR: 1523T>G; F508C
PubMed Link: 19359498
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Cystic fibrosis testing comes of age.

The Journal Of Molecular Diagnostics : Jmd
Grody, Wayne W WW
Publication Date: 2009-05

Variant appearance in text: CFTR: F508C
PubMed Link: 19359497
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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: PHE508CYS
PubMed Link: 19357641
Variant Present in the following documents:
  • msb200916-s1.pdf
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Identification of cystic fibrosis variants by polymerase chain reaction/oligonucleotide ligation assay.

The Journal Of Molecular Diagnostics : Jmd
Schwartz, Karen M KM; Pike-Buchanan, Lisa L LL; Muralidharan, Kasinathan K; Redman, Joy B JB; Wilson, Jean Amos JA; Jarvis, Michael M; Cura, M Grace MG; Pratt, Victoria M VM
Publication Date: 2009-05

Variant appearance in text: CFTR: F508C
PubMed Link: 19324992
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A novel computational and structural analysis of nsSNPs in CFTR gene.

Genomic Medicine
George Priya Doss, C C; Rajasekaran, R R; Sudandiradoss, C C; Ramanathan, K K; Purohit, R R; Sethumadhavan, R R
Publication Date: 2008-01

Variant appearance in text: CFTR: F508C
PubMed Link: 18716917
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