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: 575A>G; Asp192Gly

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: D192G

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

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Clinical characteristics and outcome of SARS -CoV-2 infection in patients with cystic fibrosis managed at home.

Pulmonology

Terlizzi, V V; Francalanci, M M; Taccetti, G G

Publication Date: 2022

Variant appearance in text: CFTR: D192G

PubMed Link: 34852971

Variant Present in the following documents:

• Main text

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Clinical characteristics and outcome of SARS -CoV-2 infection in patients with cystic fibrosis managed at home.

Pulmonology

Terlizzi, V V; Francalanci, M M; Taccetti, G G

Publication Date: 2021-11-15

Variant appearance in text: CFTR: D192G

PubMed Link: 34852971

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease.

Iscience

Dasouki, Majed M; Alaiya, Ayodeele A; ElAmin, Tanziel T; Shinwari, Zakia Z; Monies, Dorota D; Abouelhoda, Mohamed M; Jabaan, Amjad A; Almourfi, Feras F; Rahbeeni, Zuhair Z; Alsohaibani, Fahad F; Almohareb, Fahad F; Al-Zahrani, Hazzaa H; Guzmán Vega, Francisco J FJ; Arold, Stefan T ST; Aljurf, Mahmoud M; Ahmed, Syed Osman SO

Publication Date: 2021-03-19

Variant appearance in text: CFTR: 575A>G

PubMed Link: 33748703

Variant Present in the following documents:

• Main text

View BVdb publication page

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Conserved amino acids in the region connecting membrane spanning domain 1 to nucleotide binding domain 1 are essential for expression of the MRP1 (ABCC1) transporter.

Plos One

Smith, Emma E EE; Conseil, Gwenaëlle G; Cole, Susan P C SPC

Publication Date: 2021

Variant appearance in text: CFTR: D192G

PubMed Link: 33571281

Variant Present in the following documents:

• Main text

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Extensive CFTR Gene Analysis Revealed a Higher Occurrence of Cystic Fibrosis Transmembrane Regulator-Related Disorders (CFTR-RD) among CF Carriers.

Journal Of Clinical Medicine

Esposito, Maria Valeria MV; Aveta, Achille A; Comegna, Marika M; Cernera, Gustavo G; Iacotucci, Paola P; Carnovale, Vincenzo V; Taccetti, Giovanni G; Terlizzi, Vito V; Castaldo, Giuseppe G

Publication Date: 2020-11-27

Variant appearance in text: CFTR: D192G

PubMed Link: 33260873

Variant Present in the following documents:

• Main text
• jcm-09-03853.pdf

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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: D192G

PubMed Link: 32357917

Variant Present in the following documents:

• Main text
• 12881_2020_Article_958.pdf

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Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.

Molecular Genetics & Genomic Medicine

Behar, Doron M DM; Inbar, Ori O; Shteinberg, Michal M; Gur, Michal M; Mussaffi, Huda H; Shoseyov, David D; Ashkenazi, Moshe M; Alkrinawi, Soliman S; Bormans, Concetta C; Hakim, Fahed F; Mei-Zahav, Meir M; Cohen-Cymberknoh, Malena M; Dagan, Adi A; Prais, Dario D; Sarouk, Ifat I; Stafler, Patrick P; Bar Aluma, Bat El BE; Akler, Gidon G; Picard, Elie E; Aviram, Micha M; Efrati, Ori O; Livnat, Galit G; Rivlin, Joseph J; Bentur, Lea L; Blau, Hannah H; Kerem, Eitan E; Singer, Amihood A

Publication Date: 2017-05

Variant appearance in text: CFTR: 575A>G; Asp192Gly

PubMed Link: 28546993

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.

Molecular Medicine (Cambridge, Mass.)

Lucarelli, Marco M; Bruno, Sabina Maria SM; Pierandrei, Silvia S; Ferraguti, Giampiero G; Stamato, Antonella A; Narzi, Fabiana F; Amato, Annalisa A; Cimino, Giuseppe G; Bertasi, Serenella S; Quattrucci, Serena S; Strom, Roberto R

Publication Date: 2015-04-21

Variant appearance in text: CFTR: 575A>G; Asp192Gly

PubMed Link: 25910067

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reactive-oxygen-species-mediated P. aeruginosa killing is functional in human cystic fibrosis macrophages.

Plos One

Cifani, Noemi N; Pompili, Barbara B; Anile, Marco M; Patella, Miriam M; Diso, Daniele D; Venuta, Federico F; Cimino, Giuseppe G; Quattrucci, Serena S; Di Domenico, Enea Gino EG; Ascenzioni, Fiorentina F; Del Porto, Paola P

Publication Date: 2013

Variant appearance in text: CFTR: D192G

PubMed Link: 23977124

Variant Present in the following documents:

• Main text
• pone.0071717.pdf

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