Publications:

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CAGE sequencing reveals CFTR-dependent dysregulation of type I IFN signaling in activated cystic fibrosis macrophages.

Science Advances

Gillan, Jonathan L JL; Chokshi, Mithil M; Hardisty, Gareth R GR; Clohisey Hendry, Sara S; Prasca-Chamorro, Daniel D; Robinson, Nicola J NJ; Lasota, Benjamin B; Clark, Richard R; Murphy, Lee L; Whyte, Moira K B MKB; Baillie, J Kenneth JK; Davidson, Donald J DJ; Bao, Gang G; Gray, Robert D RD

Publication Date: 2023-05-26

Variant appearance in text: CFTR: G542X

PubMed Link: 37235648

Variant Present in the following documents:

• Main text
• sciadv.adg5128.pdf

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Novel therapeutics in nystagmus: what has the genetics taught us so far?

Therapeutic Advances In Rare Disease

Self, Jay E JE; Lee, Helena H

Publication Date: 2021

Variant appearance in text: CFTR: G542X

PubMed Link: 37181109

Variant Present in the following documents:

• 10.1177_2633004021998714.pdf

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The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.

International Journal Of Molecular Sciences

Makarova, Maria M; Nemtsova, Marina M; Danishevich, Anastasiia A; Chernevskiy, Denis D; Belenikin, Maxim M; Krinitsina, Anastasiia A; Baranova, Elena E; Sagaydak, Olesya O; Vorontsova, Maria M; Khatkov, Igor I; Zhukova, Lyudmila L; Bodunova, Natalia N; Nikolaev, Sergey S; Byakhova, Mariya M; Semenova, Anna A; Galkin, Vsevolod V; Gadzhieva, Saida S

Publication Date: 2023-04-27

Variant appearance in text: CFTR: 1624G>T; Gly542Ter; rs113993959

PubMed Link: 37175647

Variant Present in the following documents:

• ijms-24-07940.pdf

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Emerging Personalized Opportunities for Enhancing Translational Readthrough in Rare Genetic Diseases and Beyond.

International Journal Of Molecular Sciences

Wagner, Roland N RN; Wießner, Michael M; Friedrich, Andreas A; Zandanell, Johanna J; Breitenbach-Koller, Hannelore H; Bauer, Johann W JW

Publication Date: 2023-03-23

Variant appearance in text: CFTR: G542X

PubMed Link: 37047074

Variant Present in the following documents:

• Main text
• ijms-24-06101.pdf

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Validating organoid-derived human intestinal monolayers for personalized therapy in cystic fibrosis.

Life Science Alliance

Birimberg-Schwartz, Liron L; Ip, Wan W; Bartlett, Claire C; Avolio, Julie J; Vonk, Annelotte M AM; Gunawardena, Tarini T; Du, Kai K; Esmaeili, Mohsen M; Beekman, Jeffrey M JM; Rommens, Johanna J; Strug, Lisa L; Bear, Christine E CE; Moraes, Theo J TJ; Gonska, Tanja T

Publication Date: 2023-06

Variant appearance in text: CFTR: G542X

PubMed Link: 37024122

Variant Present in the following documents:

• LSA-2022-01857.pdf

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The synthetic aminoglycoside ELX-02 induces readthrough of G550X-CFTR producing super-functional protein that can be further enhanced by CFTR modulators.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Chen, Jianguo J; Thrasher, Kari K; Fu, Lianwu L; Wang, Wei W; Aghamohammadzadeh, Soheil S; Wen, Hui H; Tang, Liping L; Keeling, Kim M KM; Falk Libby, Emily E; Bedwell, David M DM; Rowe, Steven M SM

Publication Date: 2023-04-04

Variant appearance in text: CFTR: G542X

PubMed Link: 37014818

Variant Present in the following documents:

• Main text

View BVdb publication page

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Personalized medicine: Function of CFTR variant p.Arg334Trp is rescued by currently available CFTR modulators.

Frontiers In Molecular Biosciences

Railean, Violeta V; Rodrigues, Cláudia S CS; Ramalho, Sofia S SS; Silva, Iris A L IAL; Bartosch, Jan J; Farinha, Carlos M CM; Pankonien, Ines I; Amaral, Margarida D MD

Publication Date: 2023

Variant appearance in text: CFTR: Gly542X

PubMed Link: 37006619

Variant Present in the following documents:

• Main text
• fmolb-10-1155705.pdf

View BVdb publication page

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The Association between CFTR Gene Mutation Heterozygosity and Asthma Development: A Systematic Review.

Journal Of Clinical Medicine

Koumpagioti, Despoina D; Moriki, Dafni D; Boutopoulou, Barbara B; Matziou, Vasiliki V; Loukou, Ioanna I; Priftis, Kostas N KN; Douros, Konstantinos K

Publication Date: 2023-03-21

Variant appearance in text: CFTR: G542X

PubMed Link: 36983403

Variant Present in the following documents:

• Main text
• jcm-12-02403.pdf

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Recoding of Nonsense Mutation as a Pharmacological Strategy.

Biomedicines

Temaj, Gazmend G; Telkoparan-Akillilar, Pelin P; Nuhii, Nexhibe N; Chichiarelli, Silvia S; Saha, Sarmistha S; Saso, Luciano L

Publication Date: 2023-02-22

Variant appearance in text: CFTR: G542X

PubMed Link: 36979640

Variant Present in the following documents:

• Main text
• biomedicines-11-00659.pdf

View BVdb publication page

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Outcomes of children with cystic fibrosis screen positive, inconclusive diagnosis/CFTR related metabolic syndrome.

Frontiers In Pediatrics

Gunnett, Mohini A MA; Baker, Elizabeth E; Mims, Cathy C; Self, Staci T ST; Gutierrez, Hector H HH; Guimbellot, Jennifer S JS

Publication Date: 2023

Variant appearance in text: CFTR: G542X

PubMed Link: 36969284

Variant Present in the following documents:

• Main text
• fped-11-1127659.pdf

View BVdb publication page

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Beyond Mendelian Inheritance: Genetic Buffering and Phenotype Variability.

Phenomics (Cham, Switzerland)

Rossi, Andrea A; Kontarakis, Zacharias Z

Publication Date: 2022-04

Variant appearance in text: CFTR: G542X

PubMed Link: 36939776

Variant Present in the following documents:

• Main text
• 43657_2021_Article_30.pdf

View BVdb publication page

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Regulatory T cell enhancement in adults with cystic fibrosis receiving Elexacaftor/Tezacaftor/Ivacaftor therapy.

Frontiers In Immunology

Westhölter, Dirk D; Raspe, Jonas J; Uebner, Hendrik H; Pipping, Johannes J; Schmitz, Mona M; Straßburg, Svenja S; Sutharsan, Sivagurunathan S; Welsner, Matthias M; Taube, Christian C; Reuter, Sebastian S

Publication Date: 2023

Variant appearance in text: CFTR: G542X

PubMed Link: 36875141

Variant Present in the following documents:

• Main text
• fimmu-14-1107437.pdf

View BVdb publication page

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Precision information extraction for rare disease epidemiology at scale.

Journal Of Translational Medicine

Kariampuzha, William Z WZ; Alyea, Gioconda G; Qu, Sue S; Sanjak, Jaleal J; Mathé, Ewy E; Sid, Eric E; Chatelaine, Haley H; Yadaw, Arjun A; Xu, Yanji Y; Zhu, Qian Q

Publication Date: 2023-02-28

Variant appearance in text: CFTR: G542X

PubMed Link: 36855134

Variant Present in the following documents:

• 12967_2023_4011_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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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: 1624G>T; Gly542Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Pharmacogenetic actionability and medication prescribing in people with cystic fibrosis.

Clinical And Translational Science

Anderson, Justin D JD; Davis, Brittney H BH; Giang, Gracie G; Jones, April A; Lee, Cameron R CR; Parker, Kennedy K; Searcy, Heather H; Benner, Kim K; Limdi, Nita A NA; Guimbellot, Jennifer S JS

Publication Date: 2023-02-09

Variant appearance in text: CFTR: G542X

PubMed Link: 36760155

Variant Present in the following documents:

• Main text
• CTS-16-662.pdf

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Loss of CFTR function is associated with reduced bitter taste receptor-stimulated nitric oxide innate immune responses in nasal epithelial cells and macrophages.

Frontiers In Immunology

Carey, Ryan M RM; Palmer, James N JN; Adappa, Nithin D ND; Lee, Robert J RJ

Publication Date: 2023

Variant appearance in text: CFTR: G542X

PubMed Link: 36742335

Variant Present in the following documents:

• Main text
• fimmu-14-1096242.pdf
• DataSheet_1.pdf

View BVdb publication page

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High-throughput functional assay in cystic fibrosis patient-derived organoids allows drug repurposing.

Erj Open Research

Spelier, Sacha S; de Poel, Eyleen E; Ithakisiou, Georgia N GN; Suen, Sylvia W F SWF; Hagemeijer, Marne C MC; Muilwijk, Danya D; Vonk, Annelotte M AM; Brunsveld, Jesse E JE; Kruisselbrink, Evelien E; van der Ent, Cornelis K CK; Beekman, Jeffrey M JM

Publication Date: 2023-01

Variant appearance in text: CFTR: G542X

PubMed Link: 36726369

Variant Present in the following documents:

• Main text
• 00495-2022.pdf

View BVdb publication page

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Cutevariant: a standalone GUI-based desktop application to explore genetic variations from an annotated VCF file.

Bioinformatics Advances

Schutz, Sacha S; Monod-Broca, Charles C; Bourneuf, Lucas L; Marijon, Pierre P; Montier, Tristan T

Publication Date: 2022

Variant appearance in text: CFTR: G542*

PubMed Link: 36699349

Variant Present in the following documents:

• Main text
• vbab028.pdf

View BVdb publication page

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What Can RNA-Based Therapy Do for Monogenic Diseases?

Pharmaceutics

Clarke, Luka A LA; Amaral, Margarida D MD

Publication Date: 2023-01-12

Variant appearance in text: CFTR: G542X

PubMed Link: 36678889

Variant Present in the following documents:

• Main text
• pharmaceutics-15-00260.pdf

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Effects of CFTR modulators on serum biomarkers of liver fibrosis in children with cystic fibrosis.

Hepatology Communications

Levitte, Steven S; Fuchs, Yonathan Y; Wise, Russell R; Sellers, Zachary M ZM

Publication Date: 2023-01-20

Variant appearance in text: CFTR: G542X

PubMed Link: 36662672

Variant Present in the following documents:

• Main text
• hc9-7-e0010.pdf

View BVdb publication page

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Early developmental phenotypes in the cystic fibrosis sheep model.

Faseb Bioadvances

Van Wettere, Arnaud J AJ; Leir, Shih-Hsing SH; Cotton, Calvin U CU; Regouski, Misha M; Viotti Perisse, Iuri I; Kerschner, Jenny L JL; Paranjapye, Alekh A; Fan, Zhiqiang Z; Liu, Ying Y; Schacht, Makayla M; White, Kenneth L KL; Polejaeva, Irina A IA; Harris, Ann A

Publication Date: 2023-01

Variant appearance in text: CFTR: G542X

PubMed Link: 36643895

Variant Present in the following documents:

• Main text
• FBA2-5-13.pdf

View BVdb publication page

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SARS-CoV-2 viral entry and replication is impaired in Cystic Fibrosis airways due to ACE2 downregulation.

Nature Communications

Bezzerri, Valentino V; Gentili, Valentina V; Api, Martina M; Finotti, Alessia A; Papi, Chiara C; Tamanini, Anna A; Boni, Christian C; Baldisseri, Elena E; Olioso, Debora D; Duca, Martina M; Tedesco, Erika E; Leo, Sara S; Borgatti, Monica M; Volpi, Sonia S; Pinton, Paolo P; Cabrini, Giulio G; Gambari, Roberto R; Blasi, Francesco F; Lippi, Giuseppe G; Rimessi, Alessandro A; Rizzo, Roberta R; Cipolli, Marco M

Publication Date: 2023-01-10

Variant appearance in text: CFTR: G542X

PubMed Link: 36627352

Variant Present in the following documents:

• Main text
• 41467_2023_35862_MOESM3_ESM.pdf
• 41467_2023_35862_MOESM4_ESM.xlsx, sheet 16
• 41467_2023_35862_MOESM1_ESM.pdf
• 41467_2023_Article_35862.pdf
• 41467_2023_35862_MOESM4_ESM.xlsx, sheet 31
• 41467_2023_35862_MOESM2_ESM.pdf
• 41467_2023_35862_MOESM4_ESM.xlsx, sheet 11

View BVdb publication page

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Combined multi-channel intraluminal impedance measurement and pHmetry in the detection of gastroesophageal reflux disease in children with cystic fibrosis.

Jornal De Pediatria

Gonçalves, Emília da Silva EDS; Ribeiro, José Dirceu JD; Marson, Fernando Augusto Lima FAL; Montes, Ciro Garcia CG; Ribeiro, Antônio Fernando AF; Mainz, Jochen Georg JG; Toro, Adyléia Aparecida Dalbo Contrera AADC; Zamariola, Juliana Helena JH; Borgli, Daniela Souza Paiva DSP; Lomazi, Elizete Aparecida EA; Servidoni, Maria de Fátima Corrêa Pimenta MFCP

Publication Date: 2022-12-20

Variant appearance in text: CFTR: Gly542X

PubMed Link: 36564006

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes.

Cells

Baldassarri, Margherita M; Zguro, Kristina K; Tomati, Valeria V; Pastorino, Cristina C; Fava, Francesca F; Croci, Susanna S; Bruttini, Mirella M; Picchiotti, Nicola N; Furini, Simone S; Gen-Covid Multicenter Study, ; Pedemonte, Nicoletta N; Gabbi, Chiara C; Renieri, Alessandra A; Fallerini, Chiara C

Publication Date: 2022-12-16

Variant appearance in text: CFTR: G542*

PubMed Link: 36552859

Variant Present in the following documents:

• Main text
• cells-11-04096.pdf

View BVdb publication page

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Cystic Fibrosis Patients with F508del/Minimal Function Genotype: Laboratory and Nutritional Evaluations after One Year of Elexacaftor/Tezacaftor/Ivacaftor Treatment.

Journal Of Clinical Medicine

Carnovale, Vincenzo V; Scialò, Filippo F; Gelzo, Monica M; Iacotucci, Paola P; Amato, Felice F; Zarrilli, Federica F; Celardo, Assunta A; Castaldo, Giuseppe G; Corso, Gaetano G

Publication Date: 2022-11-22

Variant appearance in text: CFTR: G542X

PubMed Link: 36498475

Variant Present in the following documents:

• jcm-11-06900.pdf

View BVdb publication page

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Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.

Cell

Waldman, Shamam S; Backenroth, Daniel D; Harney, Éadaoin É; Flohr, Stefan S; Neff, Nadia C NC; Buckley, Gina M GM; Fridman, Hila H; Akbari, Ali A; Rohland, Nadin N; Mallick, Swapan S; Olalde, Iñigo I; Cooper, Leo L; Lomes, Ariel A; Lipson, Joshua J; Cano Nistal, Jorge J; Yu, Jin J; Barzilai, Nir N; Peter, Inga I; Atzmon, Gil G; Ostrer, Harry H; Lencz, Todd T; Maruvka, Yosef E YE; Lämmerhirt, Maike M; Beider, Alexander A; Rutgers, Leonard V LV; Renson, Virginie V; Prufer, Keith M KM; Schiffels, Stephan S; Ringbauer, Harald H; Sczech, Karin K; Carmi, Shai S; Reich, David D

Publication Date: 2022-11-22

Variant appearance in text: CFTR: G542X

PubMed Link: 36455558

Variant Present in the following documents:

• NIHMS1852590-supplement-MMC2.xlsx, sheet 6
• NIHMS1852590-supplement-MMC1.pdf

View BVdb publication page

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Screening by high-throughput sequencing for pathogenic variants in cystic fibrosis: Benefit of introducing personalized therapies.

Journal Of Cellular And Molecular Medicine

de Melo, Ana Cristina Vieira ACV; de Souza, Karla Simone Costa KSC; da Silva, Heglayne Pereira Vital HPV; Maia, Jussara Melo de Cerqueira JMC; Dantas, Vera Maria VM; Bezerra, João Felipe JF; de Rezende, Adriana Augusto AA

Publication Date: 2022-12

Variant appearance in text: CFTR: 1624G>T

PubMed Link: 36369753

Variant Present in the following documents:

• Main text
• JCMM-26-5943.pdf

View BVdb publication page

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Amikacin Liposomal Inhalation Suspension in the Treatment of Mycobacterium abscessus Lung Infection: A French Observational Experience.

Open Forum Infectious Diseases

Chiron, Raphael R; Hoefsloot, Wouter W; Van Ingen, Jakko J; Marchandin, Hélène H; Kremer, Laurent L; Morisse-Pradier, Hélène H; Charriot, Jeremy J; Mallet, Jean-Pierre JP; Herrmann, Jean-Louis JL; Caimmi, Davide D; Moreau, Johan J; Dumont, Yann Y; Godreuil, Sylvain S; Bergeron, Anne A; Drevait, Margot M; Bouzat-Rossigneux, Elodie E; Terrail, Nicolas N; Andrejak, Claire C; Veziris, Nicolas N; Grenet, Dominique D; Coudrat, Alexandre A; Catherinot, Emilie E

Publication Date: 2022-10

Variant appearance in text: CFTR: G542X

PubMed Link: 36267258

Variant Present in the following documents:

• ofac465.pdf

View BVdb publication page

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