Publications:

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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: 695T>A; Val232Asp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: V232D

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

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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: V232D

PubMed Link: 35652053

Variant Present in the following documents:

• Main text
• fped-10-881470.pdf

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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: rs397508783

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

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Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.

Human Mutation

Nykamp, Keith K; Truty, Rebecca R; Riethmaier, Darlene D; Wilkinson, Julia J; Bristow, Sara L SL; Aguilar, Sienna S; Neitzel, Dana D; Faulkner, Nicole N; Aradhya, Swaroop S

Publication Date: 2021-09

Variant appearance in text: CFTR: 695T>A; Val232Asp

PubMed Link: 34196078

Variant Present in the following documents:

• HUMU-42-1165-s002.xlsx, sheet 1

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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: 695T>A; Val232Asp; rs397508783

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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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: V232D

PubMed Link: 34066648

Variant Present in the following documents:

• Main text
• jpm-11-00384.pdf

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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: V232D

PubMed Link: 33922413

Variant Present in the following documents:

• Main text

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Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency.

Journal Of Clinical Immunology

Yu, Fang F; Agrebi, Nourhen N; Mackeh, Rafah R; Abouhazima, Khaled K; KhudaBakhsh, Khadija K; Adeli, Mehdi M; Lo, Bernice B; Hassan, Amel A; Machaca, Khaled K

Publication Date: 2021-07

Variant appearance in text: CFTR: V232D

PubMed Link: 33650027

Variant Present in the following documents:

• Main text
• 10875_2021_Article_1004.pdf

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Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies.

International Journal Of Neonatal Screening

Marcão, Ana A; Barreto, Celeste C; Pereira, Luísa L; Vaz, Luísa Guedes LG; Cavaco, José J; Casimiro, Ana A; Félix, Miguel M; Silva, Teresa Reis TR; Barbosa, Telma T; Freitas, Cristina C; Nunes, Sidónia S; Felício, Verónica V; Lopes, Lurdes L; Amaral, Margarida M; Vilarinho, Laura L

Publication Date: 2018-09

Variant appearance in text: CFTR: V232D

PubMed Link: 33072945

Variant Present in the following documents:

• Main text
• IJNS-04-00022.pdf

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Functional and Pharmacological Characterization of the Rare CFTR Mutation W361R.

Frontiers In Pharmacology

Billet, Arnaud A; Elbahnsi, Ahmad A; Jollivet-Souchet, Mathilde M; Hoffmann, Brice B; Mornon, Jean-Paul JP; Callebaut, Isabelle I; Becq, Frédéric F

Publication Date: 2020

Variant appearance in text: CFTR: V232D

PubMed Link: 32256364

Variant Present in the following documents:

• Main text
• fphar-11-00295.pdf

View BVdb publication page

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Towards next generation therapies for cystic fibrosis: Folding, function and pharmacology of CFTR.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society

Bose, Samuel J SJ; Krainer, Georg G; Ng, Demi R S DRS; Schenkel, Mathias M; Shishido, Hideki H; Yoon, Jae Seok JS; Haggie, Peter M PM; Schlierf, Michael M; Sheppard, David N DN; Skach, William R WR

Publication Date: 2020-03

Variant appearance in text: CFTR: V232D

PubMed Link: 31902693

Variant Present in the following documents:

• Main text

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CFTR transmembrane segments are impaired in their conformational adaptability by a pathogenic loop mutation and dynamically stabilized by Lumacaftor.

The Journal Of Biological Chemistry

Krainer, Georg G; Schenkel, Mathias M; Hartmann, Andreas A; Ravamehr-Lake, Dorna D; Deber, Charles M CM; Schlierf, Michael M

Publication Date: 2020-02-14

Variant appearance in text: CFTR: V232D

PubMed Link: 31882543

Variant Present in the following documents:

• Main text

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Gut Microbiota in Children With Cystic Fibrosis: A Taxonomic and Functional Dysbiosis.

Scientific Reports

Coffey, Michael J MJ; Nielsen, Shaun S; Wemheuer, Bernd B; Kaakoush, Nadeem O NO; Garg, Millie M; Needham, Bronwen B; Pickford, Russell R; Jaffe, Adam A; Thomas, Torsten T; Ooi, Chee Y CY

Publication Date: 2019-12-09

Variant appearance in text: CFTR: V232D

PubMed Link: 31819107

Variant Present in the following documents:

• Main text
• 41598_2019_Article_55028.pdf

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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: 695T>A; V232D

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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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: 695T>A; Val232Asp; rs397508783

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Identification of GLPG/ABBV-2737, a Novel Class of Corrector, Which Exerts Functional Synergy With Other CFTR Modulators.

Frontiers In Pharmacology

de Wilde, Gert G; Gees, Maarten M; Musch, Sara S; Verdonck, Katleen K; Jans, Mia M; Wesse, Anne-Sophie AS; Singh, Ashvani K AK; Hwang, Tzyh-Chang TC; Christophe, Thierry T; Pizzonero, Mathieu M; Van der Plas, Steven S; Desroy, Nicolas N; Cowart, Marlon M; Stouten, Pieter P; Nelles, Luc L; Conrath, Katja K

Publication Date: 2019

Variant appearance in text: CFTR: V232D

PubMed Link: 31143125

Variant Present in the following documents:

• Main text

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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: 695T>A; V232D

PubMed Link: 31036917

Variant Present in the following documents:

• 41436_2019_525_MOESM3_ESM.xlsx, sheet 1

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Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.

Scientific Reports

Pereira, Stéphanie Villa-Nova SV; Ribeiro, José Dirceu JD; Ribeiro, Antônio Fernando AF; Bertuzzo, Carmen Sílvia CS; Marson, Fernando Augusto Lima FAL

Publication Date: 2019-04-17

Variant appearance in text: CFTR: 695T>A; V232D; rs397508783

PubMed Link: 30996306

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42404.pdf

View BVdb publication page

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A minimal helical-hairpin motif provides molecular-level insights into misfolding and pharmacological rescue of CFTR.

Communications Biology

Krainer, Georg G; Treff, Antoine A; Hartmann, Andreas A; Stone, Tracy A TA; Schenkel, Mathias M; Keller, Sandro S; Deber, Charles M CM; Schlierf, Michael M

Publication Date: 2018

Variant appearance in text: CFTR: V232D

PubMed Link: 30302398

Variant Present in the following documents:

• Main text
• 42003_2018_153_MOESM1_ESM.pdf
• 42003_2018_Article_153.pdf

View BVdb publication page

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V232D mutation in patients with cystic fibrosis: Not so rare, not so mild.

Medicine

Fernández-Lorenzo, Ana E AE; Moreno-Álvarez, Ana A; Colon-Mejeras, Cristóbal C; Barros-Angueira, Francisco F; Solar-Boga, Alfonso A; Sirvent-Gómez, Josep J; Couce, María L ML; Leis, Rosaura R

Publication Date: 2018-07

Variant appearance in text: CFTR: 695T>A; Val232Asp

PubMed Link: 29995784

Variant Present in the following documents:

• Main text
• medi-97-e11397.pdf

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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: rs397508783

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: V232D

PubMed Link: 26823392

Variant Present in the following documents:

• Main text
• 424.pdf

View BVdb publication page

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Diagnostic Accuracy of a Short Endoscopic Secretin Test in Patients With Cystic Fibrosis.

Pancreas

Engjom, Trond T; Erchinger, Friedemann F; Lærum, Birger Norderud BN; Tjora, Erling E; Aksnes, Lage L; Gilja, Odd Helge OH; Dimcevski, Georg G

Publication Date: 2015-11

Variant appearance in text: CFTR: V232D

PubMed Link: 26348465

Variant Present in the following documents:

• mpa-44-1266.pdf

View BVdb publication page

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CFTR and lung homeostasis.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Collawn, James F JF; Matalon, Sadis S

Publication Date: 2014-12-15

Variant appearance in text: CFTR: V232D

PubMed Link: 25381027

Variant Present in the following documents:

• Main text

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Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.

The Journal Of Membrane Biology

Schlebach, Jonathan P JP; Sanders, Charles R CR

Publication Date: 2015-06

Variant appearance in text: CFTR: V232D

PubMed Link: 25192979

Variant Present in the following documents:

• Main text

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A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

Plos One

Masson, Emmanuelle E; Chen, Jian-Min JM; Audrézet, Marie-Pierre MP; Cooper, David N DN; Férec, Claude C

Publication Date: 2013

Variant appearance in text: CFTR: V232D

PubMed Link: 23951356

Variant Present in the following documents:

• pone.0073522.s001.xls, sheet 1

View BVdb publication page

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VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1.

Molecular Biology Of The Cell

Ren, Hong Yu HY; Grove, Diane E DE; De La Rosa, Oxana O; Houck, Scott A SA; Sopha, Pattarawut P; Van Goor, Fredrick F; Hoffman, Beth J BJ; Cyr, Douglas M DM

Publication Date: 2013-10

Variant appearance in text: CFTR: V232D

PubMed Link: 23924900

Variant Present in the following documents:

• Main text

View BVdb publication page

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Bithiazole correctors rescue CFTR mutants by two different mechanisms.

Biochemistry

Loo, Tip W TW; Bartlett, M Claire MC; Clarke, David M DM

Publication Date: 2013-08-06

Variant appearance in text: CFTR: V232D

PubMed Link: 23865422

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia

Dal'Maso, Vinícius Buaes VB; Mallmann, Lucas L; Siebert, Marina M; Simon, Laura L; Saraiva-Pereira, Maria Luiza ML; Dalcin, Paulo de Tarso Roth Pde T

Publication Date: 2013

Variant appearance in text: CFTR: V232D

PubMed Link: 23670503

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: V232D

PubMed Link: 23055971

Variant Present in the following documents:

• Main text
• fphar-03-00160.pdf

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Maintenance of nutritional status in patients with cystic fibrosis: new and emerging therapies.

Drug Design, Development And Therapy

Kalnins, Daina D; Wilschanski, Michael M

Publication Date: 2012

Variant appearance in text: CFTR: V232D

PubMed Link: 22787388

Variant Present in the following documents:

• Main text

View BVdb publication page

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Abnormal SDS-PAGE migration of cytosolic proteins can identify domains and mechanisms that control surfactant binding.

Protein Science : A Publication Of The Protein Society

Shi, Yunhua Y; Mowery, Richard A RA; Ashley, Jonathan J; Hentz, Michelle M; Ramirez, Alejandro J AJ; Bilgicer, Basar B; Slunt-Brown, Hilda H; Borchelt, David R DR; Shaw, Bryan F BF

Publication Date: 2012-08

Variant appearance in text: CFTR: V232D

PubMed Link: 22692797

Variant Present in the following documents:

• Main text

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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: V232D

PubMed Link: 21909392

Variant Present in the following documents:

• Main text
• pone.0024445.pdf

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Increased folding and channel activity of a rare cystic fibrosis mutant with CFTR modulators.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Caldwell, Ray A RA; Grove, Diane E DE; Houck, Scott A SA; Cyr, Douglas M DM

Publication Date: 2011-09

Variant appearance in text: CFTR: V232D

PubMed Link: 21642448

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Respiratory Research

Green, Deanna M DM; McDougal, Kathryn E KE; Blackman, Scott M SM; Sosnay, Patrick R PR; Henderson, Lindsay B LB; Naughton, Kathleen M KM; Collaco, J Michael JM; Cutting, Garry R GR

Publication Date: 2010-10-08

Variant appearance in text: CFTR: V232D

PubMed Link: 20932301

Variant Present in the following documents:

• Main text
• 1465-9921-11-140.pdf

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Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens.

Fertility And Sterility

Havasi, Viktoria V; Rowe, Steven M SM; Kolettis, Peter N PN; Dayangac, Didem D; Sahin, Ahmet A; Grangeia, Ana A; Carvalho, Filipa F; Barros, Alberto A; Sousa, Mario M; Bassas, Lluis L; Casals, Teresa T; Sorscher, Eric J EJ

Publication Date: 2010-11

Variant appearance in text: CFTR: V232D

PubMed Link: 20100616

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Modified Alderman-Grant Coil makes possible an efficient cross-coil probe for high field solid-state NMR of lossy biological samples.

Journal Of Magnetic Resonance (San Diego, Calif. : 1997)

Grant, Christopher V CV; Yang, Yuan Y; Glibowicka, Mira M; Wu, Chin H CH; Park, Sang Ho SH; Deber, Charles M CM; Opella, Stanley J SJ

Publication Date: 2009-11

Variant appearance in text: CFTR: V232D

PubMed Link: 19733108

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mechanisms for rescue of correctable folding defects in CFTRDelta F508.

Molecular Biology Of The Cell

Grove, Diane E DE; Rosser, Meredith F N MF; Ren, Hong Yu HY; Naren, Anjaparavanda P AP; Cyr, Douglas M DM

Publication Date: 2009-09

Variant appearance in text: CFTR: V232D

PubMed Link: 19625452

Variant Present in the following documents:

• Main text

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Detergent binding explains anomalous SDS-PAGE migration of membrane proteins.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Rath, Arianna A; Glibowicka, Mira M; Nadeau, Vincent G VG; Chen, Gong G; Deber, Charles M CM

Publication Date: 2009-02-10

Variant appearance in text: CFTR: V232D

PubMed Link: 19181854

Variant Present in the following documents:

• Main text

View BVdb publication page

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Arginines in the first transmembrane segment promote maturation of a P-glycoprotein processing mutant by hydrogen bond interactions with tyrosines in transmembrane segment 11.

The Journal Of Biological Chemistry

Loo, Tip W TW; Bartlett, M Claire MC; Clarke, David M DM

Publication Date: 2008-09-05

Variant appearance in text: CFTR: V232D

PubMed Link: 18596043

Variant Present in the following documents:

• Main text

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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society

Castellani, C C; Cuppens, H H; Macek, M M; Cassiman, J J JJ; Kerem, E E; Durie, P P; Tullis, E E; Assael, B M BM; Bombieri, C C; Brown, A A; Casals, T T; Claustres, M M; Cutting, G R GR; Dequeker, E E; Dodge, J J; Doull, I I; Farrell, P P; Ferec, C C; Girodon, E E; Johannesson, M M; Kerem, B B; Knowles, M M; Munck, A A; Pignatti, P F PF; Radojkovic, D D; Rizzotti, P P; Schwarz, M M; Stuhrmann, M M; Tzetis, M M; Zielenski, J J; Elborn, J S JS

Publication Date: 2008-05

Variant appearance in text: CFTR: V232D

PubMed Link: 18456578

Variant Present in the following documents:

• Main text

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Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

The Journal Of Molecular Diagnostics : Jmd

Schrijver, Iris I; Ramalingam, Sudha S; Sankaran, Ramalingam R; Swanson, Steve S; Dunlop, Charles L M CL; Keiles, Steven S; Moss, Richard B RB; Oehlert, John J; Gardner, Phyllis P; Wassman, E Robert ER; Kammesheidt, Anja A

Publication Date: 2005-05

Variant appearance in text: CFTR: V232D

PubMed Link: 15858154

Variant Present in the following documents:

• Main text

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Direct simulation of transmembrane helix association: role of asparagines.

Biophysical Journal

Stockner, Thomas T; Ash, Walter L WL; MacCallum, Justin L JL; Tieleman, D Peter DP

Publication Date: 2004-09

Variant appearance in text: CFTR: V232D

PubMed Link: 15345544

Variant Present in the following documents:

• Main text

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Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas.

Gut

Ahmed, N N; Corey, M M; Forstner, G G; Zielenski, J J; Tsui, L-C LC; Ellis, L L; Tullis, E E; Durie, P P

Publication Date: 2003-08

Variant appearance in text: CFTR: V232D

PubMed Link: 12865275

Variant Present in the following documents:

• Main text

View BVdb publication page

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