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: 3909C>G; N1303K; rs80034486
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
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
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
Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor-Tezacaftor-Ivacaftor.
International Journal Of Neonatal Screening
Patel, Payal P; Yeley, Jana J; Brown, Cynthia C; Wesson, Melissa M; Lesko, Barbara G BG; Slaven, James E JE; Chmiel, James F JF; Jain, Raksha R; Sanders, Don B DB
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: 3909C>G; Asn1303Lys
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
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
S945L-CFTR molecular dynamics, functional characterization and tezacaftor/ivacaftor efficacy in vivo and in vitro in matched pediatric patient-derived cell models.
Frontiers In Pediatrics
Allan, Katelin M KM; Astore, Miro A MA; Fawcett, Laura K LK; Wong, Sharon L SL; Chen, Po-Chia PC; Griffith, Renate R; Jaffe, Adam A; Kuyucak, Serdar S; Waters, Shafagh A SA
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: N1303K; rs80034486
Statistical Evaluation of Metaproteomics and 16S rRNA Amplicon Sequencing Techniques for Study of Gut Microbiota Establishment in Infants with Cystic Fibrosis.
Microbiology Spectrum
Saralegui, Claudia C; García-Durán, Carmen C; Romeu, Eduardo E; Hernáez-Sánchez, María Luisa ML; Maruri, Ainhize A; Bastón-Paz, Natalia N; Lamas, Adelaida A; Vicente, Saioa S; Pérez-Ruiz, Estela E; Delgado, Isabel I; Luna-Paredes, Carmen C; Caballero, Juan de Dios JD; Zamora, Javier J; Monteoliva, Lucía L; Gil, Concepción C; Del Campo, Rosa R
A small-molecule inhibitor and degrader of the RNF5 ubiquitin ligase.
Molecular Biology Of The Cell
Ruan, Jingjing J; Liang, Dongdong D; Yan, Wenjing W; Zhong, Yongwang Y; Talley, Daniel C DC; Rai, Ganesha G; Tao, Dingyin D; LeClair, Christopher A CA; Simeonov, Anton A; Zhang, Yinghua Y; Chen, Feihu F; Quinney, Nancy L NL; Boyles, Susan E SE; Cholon, Deborah M DM; Gentzsch, Martina M; Henderson, Mark J MJ; Xue, Fengtian F; Fang, Shengyun S
Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience.
CF Patients' Airway Epithelium and Sex Contribute to Biosynthesis Defects of Pro-Resolving Lipids.
Frontiers In Immunology
Shum, Mickael M; London, Charlie M CM; Briottet, Maelle M; Sy, Khadeeja Adam KA; Baillif, Vincent V; Philippe, Reginald R; Zare, Abdolhossein A; Ghorbani-Dalini, Sadegh S; Remus, Natacha N; Tarze, Agathe A; Escabasse, Virginie V; Epaud, Ralph R; Dubourdeau, Marc M; Urbach, Valerie V
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: 3909C>G; Asn1303Lys
Can continuous glucose monitoring predict cystic fibrosis-related diabetes and worse clinical outcome?
Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia
Zorron, Mariana M; Marson, Fernando Augusto Lima FAL; Morcillo, André Moreno AM; Gonçalves, Aline Cristina AC; El Beck, Mayra de Souza MS; Ribeiro, José Dirceu JD; Ribeiro, Antonio Fernando AF
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.
Nature Communications
Naslavsky, Michel S MS; Scliar, Marilia O MO; Yamamoto, Guilherme L GL; Wang, Jaqueline Yu Ting JYT; Zverinova, Stepanka S; Karp, Tatiana T; Nunes, Kelly K; Ceroni, José Ricardo Magliocco JRM; de Carvalho, Diego Lima DL; da Silva Simões, Carlos Eduardo CE; Bozoklian, Daniel D; Nonaka, Ricardo R; Dos Santos Brito Silva, Nayane N; da Silva Souza, Andreia A; de Souza Andrade, Heloísa H; Passos, Marília Rodrigues Silva MRS; Castro, Camila Ferreira Bannwart CFB; Mendes-Junior, Celso T CT; Mercuri, Rafael L V RLV; Miller, Thiago L A TLA; Buzzo, Jose Leonel JL; Rego, Fernanda O FO; Araújo, Nathalia M NM; Magalhães, Wagner C S WCS; Mingroni-Netto, Regina Célia RC; Borda, Victor V; Guio, Heinner H; Rojas, Carlos P CP; Sanchez, Cesar C; Caceres, Omar O; Dean, Michael M; Barreto, Mauricio L ML; Lima-Costa, Maria Fernanda MF; Horta, Bernardo L BL; Tarazona-Santos, Eduardo E; Meyer, Diogo D; Galante, Pedro A F PAF; Guryev, Victor V; Castelli, Erick C EC; Duarte, Yeda A O YAO; Passos-Bueno, Maria Rita MR; Zatz, Mayana M
Publication Date: 2022-03-04
Variant appearance in text: CFTR: N1303K; rs80034486
Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.
Iscience
Wong, Sharon L SL; Awatade, Nikhil T NT; Astore, Miro A MA; Allan, Katelin M KM; Carnell, Michael J MJ; Slapetova, Iveta I; Chen, Po-Chia PC; Capraro, Alexander A; Fawcett, Laura K LK; Whan, Renee M RM; Griffith, Renate R; Ooi, Chee Y CY; Kuyucak, Serdar S; Jaffe, Adam A; Waters, Shafagh A SA
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
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
SARS-CoV-2 antibodies among people with cystic fibrosis prior to the vaccination campaign: A seroprevalence study in two specialized centres in Northern Italy.
Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Alicandro, Gianfranco G; Daccó, Valeria V; Cariani, Lisa L; Contarini, Martina M; Morlacchi, Letizia Corinna LC; Rosazza, Chiara C; Sciarrabba, Calogero Sathya CS; Ferraro, Federica F; Orena, Beatrice Silvia BS; Gramegna, Andrea A; Blasi, Francesco F; Colombo, Carla C
SARS-CoV-2 antibodies among people with cystic fibrosis prior to the vaccination campaign: A seroprevalence study in two specialized centres in Northern Italy.
Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Alicandro, Gianfranco G; Daccó, Valeria V; Cariani, Lisa L; Contarini, Martina M; Morlacchi, Letizia Corinna LC; Rosazza, Chiara C; Sciarrabba, Calogero Sathya CS; Ferraro, Federica F; Orena, Beatrice Silvia BS; Gramegna, Andrea A; Blasi, Francesco F; Colombo, Carla C