Publications:

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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: 254G>A; Gly85Glu; rs75961395

PubMed Link: 37175647

Variant Present in the following documents:

• ijms-24-07940.pdf

View BVdb publication page

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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: G85E

PubMed Link: 37024122

Variant Present in the following documents:

• LSA-2022-01857.pdf

View BVdb publication page

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Magnetic resonance imaging detects onset and association with lung disease severity of bronchial artery dilatation in cystic fibrosis.

Erj Open Research

Leutz-Schmidt, Patricia P; Optazaite, Daiva-Elzbieta DE; Sommerburg, Olaf O; Eichinger, Monika M; Wege, Sabine S; Steinke, Eva E; Graeber, Simon Y SY; Puderbach, Michael U MU; Schenk, Jens-Peter JP; Alrajab, Abdulsattar A; Triphan, Simon M F SMF; Kauczor, Hans-Ulrich HU; Stahl, Mirjam M; Mall, Marcus A MA; Wielpütz, Mark O MO

Publication Date: 2023-03

Variant appearance in text: CFTR: G85E

PubMed Link: 37009019

Variant Present in the following documents:

• 00473-2022.SUPPLEMENT.pdf

View BVdb publication page

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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: G85E

PubMed Link: 36986509

Variant Present in the following documents:

• Main text
• pharmaceuticals-16-00410.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: G85E

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: 254G>A; Gly85Glu

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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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: G85E

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.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: G85E

PubMed Link: 36498475

Variant Present in the following documents:

• jcm-11-06900.pdf

View BVdb publication page

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Clinical efficacy of elexacaftor-tezacaftor-ivacaftor in an adolescent with homozygous G85E cystic fibrosis.

Respiratory Medicine Case Reports

Stekolchik, Elena E; Saul, David D; Chidekel, Aaron A

Publication Date: 2022

Variant appearance in text: CFTR: G85E

PubMed Link: 36411821

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: G85E

PubMed Link: 36382177

Variant Present in the following documents:

• Main text
• austprescr-45-171.pdf

View BVdb publication page

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Cystic fibrosis and jejunoileal atresia: A clinical case.

Clinical Case Reports

da Cunha, Sara Bernardes SB; Rasteiro, Cátia C; Silva, Manuela M; Dias, Mariana M; Araújo, Célia C; Ramalho, Carla C

Publication Date: 2022-08

Variant appearance in text: CFTR: G85E

PubMed Link: 35949411

Variant Present in the following documents:

• Main text
• CCR3-10-e05869.pdf

View BVdb publication page

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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: 254G>A; G85E

PubMed Link: 35740997

Variant Present in the following documents:

• Main text
• cells-11-01868.pdf

View BVdb publication page

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Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry.

Orphanet Journal Of Rare Diseases

Rueda-Nieto, Senay S; Mondejar-Lopez, Pedro P; Mira-Escolano, María-Pilar MP; Cutillas-Tolín, Ana A; Maceda-Roldán, Luis Alberto LA; Arense-Gonzalo, Julián Jesús JJ; Palomar-Rodríguez, Joaquín A JA

Publication Date: 2022-06-13

Variant appearance in text: CFTR: G85E

PubMed Link: 35698092

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2373.pdf

View BVdb publication page

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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: G85E

PubMed Link: 35418593

Variant Present in the following documents:

• Main text

View BVdb publication page

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Distinct proteostasis states drive pharmacologic chaperone susceptibility for cystic fibrosis transmembrane conductance regulator misfolding mutants.

Molecular Biology Of The Cell

McDonald, Eli Fritz EF; Sabusap, Carleen Mae P CMP; Kim, Minsoo M; Plate, Lars L

Publication Date: 2022-06-01

Variant appearance in text: CFTR: G85E

PubMed Link: 35389766

Variant Present in the following documents:

• mbc-33-ar62-s006.xlsx, sheet 1

View BVdb publication page

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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: 254G>A; G85E

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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The NSAID glafenine rescues class 2 CFTR mutants via cyclooxygenase 2 inhibition of the arachidonic acid pathway.

Scientific Reports

Carlile, Graeme W GW; Yang, Qi Q; Matthes, Elizabeth E; Liao, Jie J; Birault, Véronique V; Sneddon, Helen F HF; Poole, Darren L DL; Hall, Callum J CJ; Hanrahan, John W JW; Thomas, David Y DY

Publication Date: 2022-03-17

Variant appearance in text: CFTR: G85E

PubMed Link: 35302062

Variant Present in the following documents:

• Main text
• 41598_2022_Article_8661.pdf

View BVdb publication page

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Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.

Cells

Lopes-Pacheco, Miquéias M; Bacalhau, Mafalda M; Ramalho, Sofia S SS; Silva, Iris A L IAL; Ferreira, Filipa C FC; Carlile, Graeme W GW; Thomas, David Y DY; Farinha, Carlos M CM; Hanrahan, John W JW; Amaral, Margarida D MD

Publication Date: 2022-01-01

Variant appearance in text: CFTR: G85E

PubMed Link: 35011698

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.

Cells

Lopes-Pacheco, Miquéias M; Bacalhau, Mafalda M; Ramalho, Sofia S SS; Silva, Iris A L IAL; Ferreira, Filipa C FC; Carlile, Graeme W GW; Thomas, David Y DY; Farinha, Carlos M CM; Hanrahan, John W JW; Amaral, Margarida D MD

Publication Date: 2022-01-01

Variant appearance in text: CFTR: G85E

PubMed Link: 35011698

Variant Present in the following documents:

• Main text

View BVdb publication page

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Revisiting CFTR Interactions: Old Partners and New Players.

International Journal Of Molecular Sciences

Farinha, Carlos M CM; Gentzsch, Martina M

Publication Date: 2021-12-07

Variant appearance in text: CFTR: G85E

PubMed Link: 34947992

Variant Present in the following documents:

• Main text
• ijms-22-13196.pdf

View BVdb publication page

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Cystic fibrosis and the gut.

Frontline Gastroenterology

Slae, Mordechai M; Wilschanski, Michael M

Publication Date: 2021

Variant appearance in text: CFTR: G85E

PubMed Link: 34917319

Variant Present in the following documents:

• Main text

View BVdb publication page

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Synergy in Cystic Fibrosis Therapies: Targeting SLC26A9.

International Journal Of Molecular Sciences

Pinto, Madalena C MC; Quaresma, Margarida C MC; Silva, Iris A L IAL; Railean, Violeta V; Ramalho, Sofia S SS; Amaral, Margarida D MD

Publication Date: 2021-12-02

Variant appearance in text: CFTR: G85E

PubMed Link: 34884866

Variant Present in the following documents:

• Main text

View BVdb publication page

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Synergy in Cystic Fibrosis Therapies: Targeting SLC26A9.

International Journal Of Molecular Sciences

Pinto, Madalena C MC; Quaresma, Margarida C MC; Silva, Iris A L IAL; Railean, Violeta V; Ramalho, Sofia S SS; Amaral, Margarida D MD

Publication Date: 2021-12-02

Variant appearance in text: CFTR: G85E

PubMed Link: 34884866

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

Balkan Medical Journal

Erdoğan, Murat M; Köse, Mehmet M; Pekcan, Sevgi S; Hangül, Melih M; Balta, Burhan B; Kiraz, Aslıhan A; Akıncı Gönen, Gizem G; Zamani, Ayşe Gül AG; Yıldırım, Mahmut Selam MS; Ramaslı Gürsoy, Tuğba T; Ezgu, Fatih F; Şişmanlar Eyüpoğlu, Tuğba T; Tana Aslan, Ayse A

Publication Date: 2021-11

Variant appearance in text: CFTR: 254G>A; rs75961395

PubMed Link: 34860163

Variant Present in the following documents:

• Main text
• bmj-38-6-357.pdf

View BVdb publication page

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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: G85E

PubMed Link: 34764878

Variant Present in the following documents:

• Table_1.pdf

View BVdb publication page

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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: rs75961395

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Protein clearance strategies for disease intervention.

Journal Of Neural Transmission (Vienna, Austria : 1996)

Hommen, Franziska F; Bilican, Saygın S; Vilchez, David D

Publication Date: 2021-10-23

Variant appearance in text: CFTR: G85E

PubMed Link: 34689261

Variant Present in the following documents:

• Main text
• 702_2021_Article_2431.pdf

View BVdb publication page

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Protein clearance strategies for disease intervention.

Journal Of Neural Transmission (Vienna, Austria : 1996)

Hommen, Franziska F; Bilican, Saygın S; Vilchez, David D

Publication Date: 2022-02

Variant appearance in text: CFTR: G85E

PubMed Link: 34689261

Variant Present in the following documents:

• Main text
• 702_2021_Article_2431.pdf

View BVdb publication page

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State of the Art on Approved Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators and Triple-Combination Therapy.

Pharmaceuticals (Basel, Switzerland)

Meoli, Aniello A; Fainardi, Valentina V; Deolmi, Michela M; Chiopris, Giulia G; Marinelli, Francesca F; Caminiti, Caterina C; Esposito, Susanna S; Pisi, Giovanna G

Publication Date: 2021-09-15

Variant appearance in text: CFTR: G85E

PubMed Link: 34577628

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00928.pdf

View BVdb publication page

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Type-4 Phosphodiesterase (PDE4) Blockade Reduces NETosis in Cystic Fibrosis.

Frontiers In Pharmacology

Totani, Licia L; Amore, Concetta C; Piccoli, Antonio A; Dell'Elba, Giuseppe G; Di Santo, Angelo A; Plebani, Roberto R; Pecce, Romina R; Martelli, Nicola N; Rossi, Alice A; Ranucci, Serena S; De Fino, Ida I; Moretti, Paolo P; Bragonzi, Alessandra A; Romano, Mario M; Evangelista, Virgilio V

Publication Date: 2021

Variant appearance in text: CFTR: G85E

PubMed Link: 34566635

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs75961395

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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Functional correction of CFTR mutations in human airway epithelial cells using adenine base editors.

Nucleic Acids Research

Krishnamurthy, Sateesh S; Traore, Soumba S; Cooney, Ashley L AL; Brommel, Christian M CM; Kulhankova, Katarina K; Sinn, Patrick L PL; Newby, Gregory A GA; Liu, David R DR; McCray, Paul B PB

Publication Date: 2021-10-11

Variant appearance in text: CFTR: G85E

PubMed Link: 34520545

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: G85E

PubMed Link: 34503567

Variant Present in the following documents:

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

View BVdb publication page

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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: Gly85Glu

PubMed Link: 34413153

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Gly85Glu

PubMed Link: 34413153

Variant Present in the following documents:

• Main text

View BVdb publication page

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First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis.

Qatar Medical Journal

AbdulWahab, Atqah A; AlNaimi, Amal A; Habra, Basel B; Janahi, Ibrahim I

Publication Date: 2021

Variant appearance in text: CFTR: 254G>A; G85E

PubMed Link: 34377682

Variant Present in the following documents:

• Main text
• qmj-2021-02-024.pdf

View BVdb publication page

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Pharmacological Modulation of Ion Channels for the Treatment of Cystic Fibrosis.

Journal Of Experimental Pharmacology

Pinto, Madalena C MC; Silva, Iris A L IAL; Figueira, Miriam F MF; Amaral, Margarida D MD; Lopes-Pacheco, Miquéias M

Publication Date: 2021

Variant appearance in text: CFTR: G85E

PubMed Link: 34326672

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.

Molecular Genetics & Genomic Medicine

Zeevi, David A DA; Chung, Wendy K WK; Levi, Chaim C; Scher, Sholem Y SY; Bringer, Rachel R; Kahan, Yael Y; Muallem, Hagit H; Benel, Rinat R; Hirsch, Yoel Y; Weiden, Tzvi T; Ekstein, Ahron A; Ekstein, Josef J

Publication Date: 2021-08

Variant appearance in text: CFTR: 254G>A; rs75961395

PubMed Link: 34288589

Variant Present in the following documents:

• Main text
• MGG3-9-e1756.pdf

View BVdb publication page

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Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.

Molecular Genetics & Genomic Medicine

Zeevi, David A DA; Chung, Wendy K WK; Levi, Chaim C; Scher, Sholem Y SY; Bringer, Rachel R; Kahan, Yael Y; Muallem, Hagit H; Benel, Rinat R; Hirsch, Yoel Y; Weiden, Tzvi T; Ekstein, Ahron A; Ekstein, Josef J

Publication Date: 2021-08

Variant appearance in text: CFTR: 254G>A; rs75961395

PubMed Link: 34288589

Variant Present in the following documents:

• Main text
• MGG3-9-e1756.pdf

View BVdb publication page

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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: 254G>A; Gly85Glu

PubMed Link: 34196078

Variant Present in the following documents:

• HUMU-42-1165-s002.xlsx, sheet 1

View BVdb publication page

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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: 254G>A; Gly85Glu; rs75961395

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Personalized Medicine Based on Nasal Epithelial Cells: Comparative Studies with Rectal Biopsies and Intestinal Organoids.

Journal Of Personalized Medicine

Silva, Iris A L IAL; Railean, Violeta V; Duarte, Aires A; Amaral, Margarida D MD

Publication Date: 2021-05-16

Variant appearance in text: CFTR: G85E

PubMed Link: 34065744

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cystic Fibrosis Lung Disease Modifiers and Their Relevance in the New Era of Precision Medicine.

Genes

Sepahzad, Afsoon A; Morris-Rosendahl, Deborah J DJ; Davies, Jane C JC

Publication Date: 2021-04-13

Variant appearance in text: CFTR: G85E

PubMed Link: 33924524

Variant Present in the following documents:

• Main text

View BVdb publication page

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Nasal Epithelial Cell-Based Models for Individualized Study in Cystic Fibrosis.

International Journal Of Molecular Sciences

Keegan, Duncan E DE; Brewington, John J JJ

Publication Date: 2021-04-24

Variant appearance in text: CFTR: G85E

PubMed Link: 33923202

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: G85E

PubMed Link: 33922413

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics of CFTR and male infertility.

Translational Andrology And Urology

Bieniek, Jared M JM; Lapin, Craig D CD; Jarvi, Keith A KA

Publication Date: 2021-03

Variant appearance in text: CFTR: G85E

PubMed Link: 33850775

Variant Present in the following documents:

• Main text
• tau-10-03-1391.pdf

View BVdb publication page

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The Diagnosis of Cystic Fibrosis in Adult Age. Data from the Italian Registry.

Diagnostics (Basel, Switzerland)

Padoan, Rita R; Quattrucci, Serena S; Amato, Annalisa A; Carnovale, Vincenzo V; Salvatore, Donatello D; Salvatore, Marco M; Campagna, Giuseppe G

Publication Date: 2021-02-16

Variant appearance in text: CFTR: G85E

PubMed Link: 33669477

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cystic Fibrosis Polymorphic Variants in a Russian Population.

Pharmacogenomics And Personalized Medicine

Kiseleva, Anna A; Klimushina, Marina M; Sotnikova, Evgeniia E; Skirko, Olga O; Divashuk, Mikhail M; Kurilova, Olga O; Ershova, Alexandra A; Khlebus, Eleonora E; Zharikova, Anastasia A; Efimova, Irina I; Pokrovskaya, Maria M; Slominsky, Petr A PA; Shalnova, Svetlana S; Meshkov, Alexey A; Drapkina, Oxana O

Publication Date: 2020

Variant appearance in text: rs75961395

PubMed Link: 33623413

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.

Disease Markers

Cambraia, Amanda A; Junior, Mario Campos MC; Zembrzuski, Verônica Marques VM; Junqueira, Ricardo Magrani RM; Cabello, Pedro Hernán PH; de Cabello, Giselda Maria Kalil GMK

Publication Date: 2021

Variant appearance in text: CFTR: 254G>A; G85E; rs75961395

PubMed Link: 33613790

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multidisciplinary approach to patients with manifestations and pulmonary complications of cystic fibrosis.

Romanian Journal Of Morphology And Embryology = Revue Roumaine De Morphologie Et Embryologie

Biciuşcă, Viorel V; Petrescu, Ileana Octavia IO; Singer, Cristina Elena CE; Oancea, Anca Gabriela AG; Petrescu, Ana Maria AM; Stan, Ionelia Sorina IS; Durand, Patricia P; Taisescu, Citto Iulian CI; Dumitrescu, Daniela D; Dobrescu, Mihaela Amelia MA; Udriştoiu, Ion I; Tudoraşcu, Diana Rodica DR; Petrescu, Florin F

Publication Date: 2020

Variant appearance in text: CFTR: G85E

PubMed Link: 33544791

Variant Present in the following documents:

• Main text
• RJME-61-2-397.pdf

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Quantitative Evaluation of CFTR Pre-mRNA Splicing Dependent on the (TG)mTn Poly-Variant Tract.

Diagnostics (Basel, Switzerland)

Sterrantino, Manuela M; Fuso, Andrea A; Pierandrei, Silvia S; Bruno, Sabina Maria SM; Testino, Giancarlo G; Cimino, Giuseppe G; Angeloni, Antonio A; Lucarelli, Marco M

Publication Date: 2021-01-25

Variant appearance in text: CFTR: 254G>A; G85E

PubMed Link: 33504063

Variant Present in the following documents:

• Main text

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Cystic fibrosis-related diabetes onset can be predicted using biomarkers measured at birth.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Lin, Yu-Chung YC; Keenan, Katherine K; Gong, Jiafen J; Panjwani, Naim N; Avolio, Julie J; Lin, Fan F; Adam, Damien D; Barrett, Paula P; Bégin, Stéphanie S; Berthiaume, Yves Y; Bilodeau, Lara L; Bjornson, Candice C; Brusky, Janna J; Burgess, Caroline C; Chilvers, Mark M; Consunji-Araneta, Raquel R; Côté-Maurais, Guillaume G; Dale, Andrea A; Donnelly, Christine C; Fairservice, Lori L; Griffin, Katie K; Henderson, Natalie N; Hillaby, Angela A; Hughes, Daniel D; Iqbal, Shaikh S; Itterman, Jennifer J; Jackson, Mary M; Karlsen, Emma E; Kosteniuk, Lorna L; Lazosky, Lynda L; Leung, Winnie W; Levesque, Valerie V; Maille, Émilie É; Mateos-Corral, Dimas D; McMahon, Vanessa V; Merjaneh, Mays M; Morrison, Nancy N; Parkins, Michael M; Pike, Jennifer J; Price, April A; Quon, Bradley S BS; Reisman, Joe J; Smith, Clare C; Smith, Mary Jane MJ; Vadeboncoeur, Nathalie N; Veniott, Danny D; Viczko, Terry T; Wilcox, Pearce P; van Wylick, Richard R; Cutting, Garry G; Tullis, Elizabeth E; Ratjen, Felix F; Rommens, Johanna M JM; Sun, Lei L; Solomon, Melinda M; Stephenson, Anne L AL; Brochiero, Emmanuelle E; Blackman, Scott S; Corvol, Harriet H; Strug, Lisa J LJ

Publication Date: 2021-05

Variant appearance in text: CFTR: G85E

PubMed Link: 33500570

Variant Present in the following documents:

• Main text
• 41436_2020_Article_1073.pdf

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Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity.

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

Rauscher, Robert R; Bampi, Giovana B GB; Guevara-Ferrer, Marta M; Santos, Leonardo A LA; Joshi, Disha D; Mark, David D; Strug, Lisa J LJ; Rommens, Johanna M JM; Ballmann, Manfred M; Sorscher, Eric J EJ; Oliver, Kathryn E KE; Ignatova, Zoya Z

Publication Date: 2021-01-26

Variant appearance in text: CFTR: G85E

PubMed Link: 33468668

Variant Present in the following documents:

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Preliminary national report on cystic fibrosis epidemiology in Tunisia: the actual state of affairs.

African Health Sciences

Hamouda, Samia S; Fredj, Sondess Hadj SH; Hilioui, Sonia S; Khalsi, Fatma F; Ameur, Salma Ben SB; Bouguila, Jihene J; Boussoffara, Raoudha R; Besbes, Habib H; Ajmi, Houda H; Mattoussi, Nadia N; Messaoud, Taieb T; Mehrezi, Ahmed A; Hachicha, Mongia M; Boughamoura, Lamia L; Sfar, Mohamed Taher MT; Gueddiche, Neji N; Abroug, Saoussen S; Becheur, Saida Ben SB; Barsaoui, Sihem S; Tebib, Neji N; Samoud, Azza A; Gandoura, Najoua N; Tinsa, Faten F; Boussetta, Khadija K

Publication Date: 2020-03

Variant appearance in text: CFTR: G85E

PubMed Link: 33402933

Variant Present in the following documents:

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