CFTR c.3909C>G ;(p.N1303K)

Variant ID: 7-117292931-C-G

NM_000492.3(CFTR):c.3909C>G;(p.N1303K)

This variant was identified in 459 publications

View GRCh38 version.




Publications:


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
PubMed Link: 37175647
Variant Present in the following documents:
  • ijms-24-07940.pdf
View BVdb publication page



Primary spontaneous pneumothorax in a term neonate.

African Health Sciences
Adekoya, Abiola O AO; Adekoya, Adesola O AO; Amosu, Lukmon O LO; Olatunji, Ayodeji A AA; Olusola-Bello, Mojisola A MA; Ashaolu, Olubukola O OO
Publication Date: 2022-12

Variant appearance in text: CFTR: N1303K
PubMed Link: 37092109
Variant Present in the following documents:
  • AFHS2204-0178.pdf
View BVdb publication page



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: N1303K
PubMed Link: 37024122
Variant Present in the following documents:
  • LSA-2022-01857_review_history.pdf
  • LSA-2022-01857.pdf
View BVdb publication page



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: N1303K
PubMed Link: 37014818
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: N1303K
PubMed Link: 37009019
Variant Present in the following documents:
  • 00473-2022.SUPPLEMENT.pdf
View BVdb publication page



Advances in Cystic Fibrosis Research in Qatar: A Commentary.

Journal Of Personalized Medicine
Hammoudeh, Samer S; Janahi, Ibrahim A IA
Publication Date: 2023-02-28

Variant appearance in text: CFTR: N1303K
PubMed Link: 36983631
Variant Present in the following documents:
  • Main text
  • jpm-13-00448.pdf
View BVdb publication page



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
Publication Date: 2023-02-21

Variant appearance in text: CFTR: N1303K
PubMed Link: 36975847
Variant Present in the following documents:
  • Main text
  • IJNS-09-00010.pdf
View BVdb publication page



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: N1303K
PubMed Link: 36855134
Variant Present in the following documents:
  • 12967_2023_4011_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



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
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: N1303K
PubMed Link: 36760155
Variant Present in the following documents:
  • Main text
  • CTS-16-662.pdf
View BVdb publication page



Additive Potentiation of R334W-CFTR Function by Novel Small Molecules.

Journal Of Personalized Medicine
Bacalhau, Mafalda M; Ferreira, Filipa C FC; Silva, Iris A L IAL; Buarque, Camilla D CD; Amaral, Margarida D MD; Lopes-Pacheco, Miquéias M
Publication Date: 2023-01-01

Variant appearance in text: CFTR: N1303K
PubMed Link: 36675763
Variant Present in the following documents:
  • Main text
  • jpm-13-00102.pdf
View BVdb publication page



Acute Recurrent Pancreatitis in a Child With INS-Related Monogenic Diabetes and a Heterozygous Pathogenic CFTR Mutation.

Journal Of The Endocrine Society
Son, Rachel G RG; Kandasamy, Balamurugan B; Bowden, Tiana T; Azzam, Ruba K RK; Oakes, Scott A SA; Philipson, Louis H LH; Greeley, Siri Atma W SAW
Publication Date: 2023-01-06

Variant appearance in text: CFTR: 3909C>G; Asn1303Lys
PubMed Link: 36655002
Variant Present in the following documents:
  • Main text
  • bvac182.pdf
View BVdb publication page



Molecular targets for cystic fibrosis and therapeutic potential of monoclonal antibodies.

Saudi Pharmaceutical Journal : Spj : The Official Publication Of The Saudi Pharmaceutical Society
Moni, Sivakumar S SS; Al Basheer, Asmaa A
Publication Date: 2022-12

Variant appearance in text: CFTR: 3909C>G; N1303K
PubMed Link: 36601503
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



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: N1303K
PubMed Link: 36498475
Variant Present in the following documents:
  • jcm-11-06900.pdf
View BVdb publication page



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
Publication Date: 2022

Variant appearance in text: CFTR: N1303k
PubMed Link: 36467478
Variant Present in the following documents:
  • fped-10-1062766.pdf
View BVdb publication page



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
PubMed Link: 36455558
Variant Present in the following documents:
  • NIHMS1852590-supplement-MMC2.xlsx, sheet 6
View BVdb publication page



Drug treatment of cystic fibrosis.

Australian Prescriber
Bruorton, Matthew M; Goddard, Thomas T
Publication Date: 2022-10

Variant appearance in text: CFTR: N1303K
PubMed Link: 36382177
Variant Present in the following documents:
  • Main text
  • austprescr-45-171.pdf
View BVdb publication page



Effect of Dornase Alfa on the Lung Clearance Index in Children with Cystic Fibrosis: A Lesson from a Case Series.

Children (Basel, Switzerland)
Terlizzi, Vito V; Parisi, Giuseppe Fabio GF; Ferrari, Beatrice B; Castellani, Chiara C; Manti, Sara S; Leonardi, Salvatore S; Taccetti, Giovanni G
Publication Date: 2022-10-26

Variant appearance in text: CFTR: N1303K
PubMed Link: 36360353
Variant Present in the following documents:
  • Main text
  • children-09-01625.pdf
View BVdb publication page



Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del].

Current Issues In Molecular Biology
Kondratyeva, Elena E; Bulatenko, Nataliya N; Melyanovskaya, Yuliya Y; Efremova, Anna A; Zhekaite, Elena E; Sherman, Viktoriya V; Voronkova, Anna A; Asherova, Irina I; Polyakov, Alexander A; Adyan, Tagui T; Kovalskaia, Valeriia V; Bukharova, Tatiana T; Goldshtein, Dmitry D; Kutsev, Sergey S
Publication Date: 2022-10-21

Variant appearance in text: CFTR: 3909C>G; N1303K
PubMed Link: 36286063
Variant Present in the following documents:
  • Main text
  • cimb-44-00349.pdf
View BVdb publication page



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
Publication Date: 2022-10-18

Variant appearance in text: CFTR: N1303K
PubMed Link: 36255300
Variant Present in the following documents:
  • Main text
  • spectrum.01466-22.pdf
View BVdb publication page



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
Publication Date: 2022-11-01

Variant appearance in text: CFTR: N1303K
PubMed Link: 36074076
Variant Present in the following documents:
  • mbc-33-ar120.pdf
View BVdb publication page



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.

International Journal Of Neonatal Screening
Bianchimani, Chiara C; Dolce, Daniela D; Centrone, Claudia C; Campana, Silvia S; Ravenni, Novella N; Orioli, Tommaso T; Camera, Erica E; Mergni, Gianfranco G; Fevola, Cristina C; Bonomi, Paolo P; Taccetti, Giovanni G; Terlizzi, Vito V
Publication Date: 2022-08-03

Variant appearance in text: CFTR: N1303K
PubMed Link: 35997436
Variant Present in the following documents:
  • IJNS-08-00046.pdf
View BVdb publication page



Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.

Journal Of Medical Genetics
Shen, Yuelin Y; Tang, Xiaolei X; Chen, Qionghua Q; Xu, Hui H; Liu, Hui H; Liu, Jinrong J; Yang, Haiming H; Li, Huimin H; Zhao, Shunying S
Publication Date: 2022-07-20

Variant appearance in text: CFTR: 3909C>G; Asn1303Lys
PubMed Link: 35858753
Variant Present in the following documents:
  • jmg-2022-108501supp001.pdf
View BVdb publication page



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
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35784330
Variant Present in the following documents:
View BVdb publication page



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: 3909C>G; N1303K
PubMed Link: 35740997
Variant Present in the following documents:
  • Main text
  • cells-11-01868.pdf
View BVdb publication page



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
PubMed Link: 35698092
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2373.pdf
View BVdb publication page



Continuous glucose monitoring and dysglycaemia in young children with cystic fibrosis: A case series.

Journal Of Paediatrics And Child Health
Stafford, Kerry K; Pattemore, Philip K PK; de Bock, Martin M; Isles, Vivienne V
Publication Date: 2022-10

Variant appearance in text: CFTR: N1303K
PubMed Link: 35485426
Variant Present in the following documents:
  • Main text
  • JPC-58-1868.pdf
View BVdb publication page



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
Publication Date: 2022

Variant appearance in text: CFTR: Asn1303Lys
PubMed Link: 35475864
Variant Present in the following documents:
  • Main text
  • 1806-3756-jbpneu-48-02-e20210307.pdf
View BVdb publication page



Cystic Fibrosis-Related Diabetes in Poland.

International Journal Of Environmental Research And Public Health
Rachel, Marta M; Biesiadecki, Marek M; Galiniak, Sabina S
Publication Date: 2022-03-29

Variant appearance in text: N/A
PubMed Link: 35409752
Variant Present in the following documents:
View BVdb publication page



Pathophysiology of Lung Disease and Wound Repair in Cystic Fibrosis.

Pathophysiology : The Official Journal Of The International Society For Pathophysiology
Conese, Massimo M; Di Gioia, Sante S
Publication Date: 2021-03-10

Variant appearance in text: CFTR: N1303K
PubMed Link: 35366275
Variant Present in the following documents:
  • Main text
  • pathophysiology-28-00011.pdf
View BVdb publication page



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: 3909C>G; N1303K
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM3_ESM.xls, sheet 1
View BVdb publication page



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
PubMed Link: 35246524
Variant Present in the following documents:
  • 41467_2022_28648_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Congenital Bilateral Absence of the Vas Deferens.

Frontiers In Genetics
Cai, Zhonglin Z; Li, Hongjun H
Publication Date: 2022

Variant appearance in text: CFTR: N1303K
PubMed Link: 35222530
Variant Present in the following documents:
  • fgene-13-775123.pdf
View BVdb publication page



Precision Medicine Based on CFTR Genotype for People with Cystic Fibrosis.

Pharmacogenomics And Personalized Medicine
Haq, Iram I; Almulhem, Maryam M; Soars, Simone S; Poulton, David D; Brodlie, Malcolm M
Publication Date: 2022

Variant appearance in text: CFTR: N1303K
PubMed Link: 35153502
Variant Present in the following documents:
  • Main text
  • pgpm-15-91.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: CFTR: N1303K; rs80034486
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Hybrid Lipid/Polymer Nanoparticles to Tackle the Cystic Fibrosis Mucus Barrier in siRNA Delivery to the Lungs: Does PEGylation Make the Difference?

Acs Applied Materials & Interfaces
Conte, Gemma G; Costabile, Gabriella G; Baldassi, Domizia D; Rondelli, Valeria V; Bassi, Rosaria R; Colombo, Diego D; Linardos, Giulia G; Fiscarelli, Ersilia V EV; Sorrentino, Raffaella R; Miro, Agnese A; Quaglia, Fabiana F; Brocca, Paola P; d'Angelo, Ivana I; Merkel, Olivia M OM; Ungaro, Francesca F
Publication Date: 2022-02-02

Variant appearance in text: CFTR: N1303K
PubMed Link: 35107987
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2022-01-21

Variant appearance in text: CFTR: N1303K
PubMed Link: 35072004
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
  • main.pdf
View BVdb publication page



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: N1303K
PubMed Link: 35011698
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: N1303K
PubMed Link: 35011698
Variant Present in the following documents:
  • Main text
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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
Publication Date: 2021-12-13

Variant appearance in text: CFTR: N1303K
PubMed Link: 34949558
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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
Publication Date: 2022-03

Variant appearance in text: CFTR: N1303K
PubMed Link: 34949558
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page