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: 4234C>T; Gln1412Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Drug treatment of cystic fibrosis.

Australian Prescriber

Bruorton, Matthew M; Goddard, Thomas T

Publication Date: 2022-10

Variant appearance in text: CFTR: Q1412X

PubMed Link: 36382177

Variant Present in the following documents:

• Main text
• austprescr-45-171.pdf

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Pathogenic Variants Spectrum and Allele Frequency of the CFTR Gene in Asians.

Allergy, Asthma & Immunology Research

Kim, Jong-Won JW

Publication Date: 2022-09

Variant appearance in text: CFTR: Gln1412X

PubMed Link: 36174988

Variant Present in the following documents:

• aair-14-444.pdf

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Pharmacological Responses of the G542X-CFTR to CFTR Modulators.

Frontiers In Molecular Biosciences

Fang, Xinxiu X; Yeh, Jiunn-Tyng JT; Hwang, Tzyh-Chang TC

Publication Date: 2022

Variant appearance in text: CFTR: Q1412X

PubMed Link: 35813815

Variant Present in the following documents:

• Main text
• fmolb-09-921680.pdf

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One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies.

Cells

Ensinck, Marjolein M MM; Carlon, Marianne S MS

Publication Date: 2022-06-08

Variant appearance in text: CFTR: 4234C>T; Q1412X

PubMed Link: 35740997

Variant Present in the following documents:

• Main text
• cells-11-01868.pdf

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New drugs in cystic fibrosis: what has changed in the last decade?

Therapeutic Advances In Chronic Disease

Roda, Juliana J; Pinto-Silva, Catarina C; Silva, Iris A I IAI; Maia, Carla C; Almeida, Susana S; Ferreira, Ricardo R; Oliveira, Guiomar G

Publication Date: 2022

Variant appearance in text: CFTR: Q1412X

PubMed Link: 35620188

Variant Present in the following documents:

• Main text
• 10.1177_20406223221098136.pdf

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Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine.

Journal Of Clinical Medicine

Butnariu, Lăcrămioara Ionela LI; Țarcă, Elena E; Cojocaru, Elena E; Rusu, Cristina C; Moisă, Ștefana Maria ȘM; Leon Constantin, Maria-Magdalena MM; Gorduza, Eusebiu Vlad EV; Trandafir, Laura Mihaela LM

Publication Date: 2021-12-13

Variant appearance in text: CFTR: Gln1412X

PubMed Link: 34945117

Variant Present in the following documents:

• Main text
• jcm-10-05821.pdf

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Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine.

Journal Of Clinical Medicine

Butnariu, Lăcrămioara Ionela LI; Țarcă, Elena E; Cojocaru, Elena E; Rusu, Cristina C; Moisă, Ștefana Maria ȘM; Leon Constantin, Maria-Magdalena MM; Gorduza, Eusebiu Vlad EV; Trandafir, Laura Mihaela LM

Publication Date: 2021-12-13

Variant appearance in text: CFTR: Gln1412X

PubMed Link: 34945117

Variant Present in the following documents:

• Main text
• jcm-10-05821.pdf

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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: rs397508702

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

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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: rs397508702

PubMed Link: 34541464

Variant Present in the following documents:

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

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: CFTR: Q1412*

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM5_ESM.xlsx, sheet 1
• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1

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Cystic Fibrosis Human Organs-on-a-Chip.

Micromachines

Ogden, Herbert Luke HL; Kim, Hoyeol H; Wikenheiser-Brokamp, Kathryn A KA; Naren, Anjaparavanda P AP; Mun, Kyu Shik KS

Publication Date: 2021-06-25

Variant appearance in text: CFTR: Q1412X

PubMed Link: 34202364

Variant Present in the following documents:

• Main text
• micromachines-12-00747.pdf

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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: 4234C>T; Gln1412Ter; rs397508702

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Novel therapeutic approaches for the management of cystic fibrosis.

Multidisciplinary Respiratory Medicine

Jaques, Ryan R; Shakeel, Arslan A; Hoyle, Cameron C

Publication Date: 2020-01-28

Variant appearance in text: CFTR: Q1412X

PubMed Link: 33282281

Variant Present in the following documents:

• Main text
• mrm-15-1-690.pdf

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Targeted deubiquitination rescues distinct trafficking-deficient ion channelopathies.

Nature Methods

Kanner, Scott A SA; Shuja, Zunaira Z; Choudhury, Papiya P; Jain, Ananya A; Colecraft, Henry M HM

Publication Date: 2020-12

Variant appearance in text: CFTR: Q1412X

PubMed Link: 33169015

Variant Present in the following documents:

• Main text
• nihms-1636101.pdf

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Mutations of the cystic fibrosis transmembrane conductance regulator gene in males with congenital bilateral absence of the vas deferens: Reproductive implications and genetic counseling (Review).

Molecular Medicine Reports

Cui, Xiangrong X; Wu, Xueqing X; Li, Qiang Q; Jing, Xuan X

Publication Date: 2020-11

Variant appearance in text: CFTR: Q1412X

PubMed Link: 33000223

Variant Present in the following documents:

• Main text
• mmr-22-05-3587.pdf

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Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A>G.

Biochimica Et Biophysica Acta. Molecular Basis Of Disease

Silva, Iris A L IAL; Doušová, Tereza T; Ramalho, Sofia S; Centeio, Raquel R; Clarke, Luka A LA; Railean, Violeta V; Botelho, Hugo M HM; Holubová, Andrea A; Valášková, Iveta I; Yeh, Jiunn-Tyng JT; Hwang, Tzyh-Chang TC; Farinha, Carlos M CM; Kunzelmann, Karl K; Amaral, Margarida D MD

Publication Date: 2020-11-01

Variant appearance in text: CFTR: Q1412X

PubMed Link: 32730979

Variant Present in the following documents:

• Main text

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Allele-Specific Prevention of Nonsense-Mediated Decay in Cystic Fibrosis Using Homology-Independent Genome Editing.

Molecular Therapy. Methods & Clinical Development

Erwood, Steven S; Laselva, Onofrio O; Bily, Teija M I TMI; Brewer, Reid A RA; Rutherford, Alexandra H AH; Bear, Christine E CE; Ivakine, Evgueni A EA

Publication Date: 2020-06-12

Variant appearance in text: CFTR: Q1412X

PubMed Link: 32490033

Variant Present in the following documents:

• Main text
• main.pdf
• mmc2.pdf

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Profile of tezacaftor/ivacaftor combination and its potential in the treatment of cystic fibrosis.

Therapeutics And Clinical Risk Management

Shiferaw, Dejene D; Faruqi, Shoaib S

Publication Date: 2019

Variant appearance in text: CFTR: Q1412X

PubMed Link: 31692517

Variant Present in the following documents:

• Main text
• tcrm-15-1029.pdf

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Positional effects of premature termination codons on the biochemical and biophysical properties of CFTR.

The Journal Of Physiology

Yeh, Jiunn-Tyng JT; Hwang, Tzyh-Chang TC

Publication Date: 2020-02

Variant appearance in text: CFTR: Q1412X

PubMed Link: 31585024

Variant Present in the following documents:

• Main text

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Human Primary Epithelial Cell Models: Promising Tools in the Era of Cystic Fibrosis Personalized Medicine.

Frontiers In Pharmacology

Awatade, Nikhil T NT; Wong, Sharon L SL; Hewson, Chris K CK; Fawcett, Laura K LK; Kicic, Anthony A; Jaffe, Adam A; Waters, Shafagh A SA

Publication Date: 2018

Variant appearance in text: CFTR: Q1412X

PubMed Link: 30581387

Variant Present in the following documents:

• Main text

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Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.

Plos Genetics

Sharma, Neeraj N; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis, Emily E; Aksit, Melis A MA; McCague, Allison F AF; Joynt, Anya T AT; Lu, Zhongzhu Z; Han, Sangwoo T ST; Anzmann, Arianna F AF; Lam, Anh-Thu N AN; Thaxton, Abigail A; West, Natalie N; Merlo, Christian C; Gottschalk, Laura B LB; Raraigh, Karen S KS; Sosnay, Patrick R PR; Cotton, Calvin U CU; Cutting, Garry R GR

Publication Date: 2018-11

Variant appearance in text: CFTR: Q1412X

PubMed Link: 30444886

Variant Present in the following documents:

• Main text
• pgen.1007723.pdf

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Structural mechanisms for defective CFTR gating caused by the Q1412X mutation, a severe Class VI pathogenic mutation in cystic fibrosis.

The Journal Of Physiology

Yeh, Jiunn-Tyng JT; Yu, Ying-Chun YC; Hwang, Tzyh-Chang TC

Publication Date: 2019-01

Variant appearance in text: CFTR: Q1412X

PubMed Link: 30408177

Variant Present in the following documents:

• Main text

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Personalized medicine in CF: from modulator development to therapy for cystic fibrosis patients with rare CFTR mutations.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Harutyunyan, Misak M; Huang, Yunjie Y; Mun, Kyu-Shik KS; Yang, Fanmuyi F; Arora, Kavisha K; Naren, Anjaparavanda P AP

Publication Date: 2018-04-01

Variant appearance in text: CFTR: Q1412X

PubMed Link: 29351449

Variant Present in the following documents:

• Main text

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Cystic fibrosis: current therapeutic targets and future approaches.

Journal Of Translational Medicine

Rafeeq, Misbahuddin M MM; Murad, Hussam Aly Sayed HAS

Publication Date: 2017-04-27

Variant appearance in text: CFTR: Q1412X

PubMed Link: 28449677

Variant Present in the following documents:

• Main text
• 12967_2017_Article_1193.pdf

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Correctors and Potentiators Rescue Function of the Truncated W1282X-Cystic Fibrosis Transmembrane Regulator (CFTR) Translation Product.

The Journal Of Biological Chemistry

Haggie, Peter M PM; Phuan, Puay-Wah PW; Tan, Joseph-Anthony JA; Xu, Haijin H; Avramescu, Radu G RG; Perdomo, Doranda D; Zlock, Lorna L; Nielson, Dennis W DW; Finkbeiner, Walter E WE; Lukacs, Gergely L GL; Verkman, Alan S AS

Publication Date: 2017-01-20

Variant appearance in text: CFTR: Q1412X

PubMed Link: 27895116

Variant Present in the following documents:

• Main text

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Cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis: current perspectives.

Clinical Pharmacology : Advances And Applications

Schmidt, Béla Z BZ; Haaf, Jérémy B JB; Leal, Teresinha T; Noel, Sabrina S

Publication Date: 2016

Variant appearance in text: CFTR: Q1412X

PubMed Link: 27703398

Variant Present in the following documents:

• Main text
• cpaa-8-127.pdf

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Animal Models of Cystic Fibrosis Pathology: Phenotypic Parallels and Divergences.

Biomed Research International

Lavelle, Gillian M GM; White, Michelle M MM; Browne, Niall N; McElvaney, Noel G NG; Reeves, Emer P EP

Publication Date: 2016

Variant appearance in text: CFTR: Q1412X

PubMed Link: 27340661

Variant Present in the following documents:

• BMRI2016-5258727.pdf

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Disease-modifying genes and monogenic disorders: experience in cystic fibrosis.

The Application Of Clinical Genetics

Gallati, Sabina S

Publication Date: 2014

Variant appearance in text: CFTR: Q1412X

PubMed Link: 25053892

Variant Present in the following documents:

• Main text
• tacg-7-133.pdf

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CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Plos One

Ziętkiewicz, Ewa E; Rutkiewicz, Ewa E; Pogorzelski, Andrzej A; Klimek, Barbara B; Voelkel, Katarzyna K; Witt, Michał M

Publication Date: 2014

Variant appearance in text: CFTR: 4234C>T; Q1412X

PubMed Link: 24586523

Variant Present in the following documents:

• Main text
• pone.0089094.pdf

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Development, clinical utility, and place of ivacaftor in the treatment of cystic fibrosis.

Drug Design, Development And Therapy

O'Reilly, Ruth R; Elphick, Heather E HE

Publication Date: 2013

Variant appearance in text: CFTR: Gln1412X

PubMed Link: 24039402

Variant Present in the following documents:

• Main text

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Nanotechnology approaches for inhalation treatment of fibrosis.

Journal Of Drug Targeting

Savla, Ronak R; Minko, Tamara T

Publication Date: 2013-12

Variant appearance in text: CFTR: Q1412X

PubMed Link: 23978292

Variant Present in the following documents:

• Main text
• DRT-21-914.pdf

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Keratin K18 increases cystic fibrosis transmembrane conductance regulator (CFTR) surface expression by binding to its C-terminal hydrophobic patch.

The Journal Of Biological Chemistry

Duan, Yuanyuan Y; Sun, Ying Y; Zhang, Fan F; Zhang, Wei Kevin WK; Wang, Dong D; Wang, Yan Y; Cao, Xu X; Hu, Wenbao W; Xie, Changyan C; Cuppoletti, John J; Magin, Thomas M TM; Wang, Haixia H; Wu, Zhenguo Z; Li, Ning N; Huang, Pingbo P

Publication Date: 2012-11-23

Variant appearance in text: CFTR: Q1412X

PubMed Link: 23045527

Variant Present in the following documents:

• Main text

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Cystic fibrosis transmembrane conductance regulator dysfunction and its treatment.

Journal Of The Royal Society Of Medicine

Hull, Jeremy J

Publication Date: 2012-06

Variant appearance in text: CFTR: Q1412X

PubMed Link: 22688363

Variant Present in the following documents:

• Main text

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Cystic fibrosis: exploiting its genetic basis in the hunt for new therapies.

Pharmacology & Therapeutics

Kreindler, James L JL

Publication Date: 2010-02

Variant appearance in text: CFTR: Q1412X

PubMed Link: 19903491

Variant Present in the following documents:

• Main text

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The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era.

The Clinical Biochemist. Reviews

Mishra, Avantika A; Greaves, Ronda R; Massie, John J

Publication Date: 2005-11

Variant appearance in text: CFTR: Q1412X

PubMed Link: 16648884

Variant Present in the following documents:

• Main text

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A haplotype framework for cystic fibrosis mutations in Iran.

The Journal Of Molecular Diagnostics : Jmd

Elahi, Elahe E; Khodadad, Ahmad A; Kupershmidt, Ilya I; Ghasemi, Fereshteh F; Alinasab, Babak B; Naghizadeh, Ramin R; Eason, Robert G RG; Amini, Mahshid M; Esmaili, Mehran M; Esmaeili Dooki, Mohammad R MR; Sanati, Mohammad H MH; Davis, Ronald W RW; Ronaghi, Mostafa M; Thorstenson, Yvonne R YR

Publication Date: 2006-02

Variant appearance in text: CFTR: Q1412X

PubMed Link: 16436643

Variant Present in the following documents:

• Main text

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Effects of C-terminal deletions on cystic fibrosis transmembrane conductance regulator function in cystic fibrosis airway epithelia.

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

Ostedgaard, Lynda S LS; Randak, Christoph C; Rokhlina, Tatiana T; Karp, Philip P; Vermeer, Daniel D; Ashbourne Excoffon, Katherine J KJ; Welsh, Michael J MJ

Publication Date: 2003-02-18

Variant appearance in text: CFTR: Q1412X

PubMed Link: 12578973

Variant Present in the following documents:

• Main text

View BVdb publication page

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