المؤلفون: Noémie Bélanger, Anne Bonhoure, Tamizan Kherani, Valérie Boudreau, François Tremblay, Annick Lavoie, Maite Carricart, Ashish Marwaha, Rémi Rabasa-Lhoret, Kathryn J. Potter

المصدر: Genetics and Molecular Biology, Vol 47, Iss 1 (2024)

مصطلحات موضوعية: CFTR variants, Cystic Fibrosis, Oral Glucose Tolerance Test, L206W, A455E, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572024000100104&tlng=enTest; https://doaj.org/toc/1678-4685Test

الوصول الحر: https://doaj.org/article/08515ed6cdce4296a264c67c8b40e92bTest

المؤلفون: Zeiger, Andrew M, McGarry, Meghan E, Mak, Angel CY, Medina, Vivian, Salazar, Sandra, Eng, Celeste, Liu, Amy K, Oh, Sam S, Nuckton, Thomas J, Jain, Deepti, Blackwell, Thomas W, Kang, Hyun Min, Abecasis, Goncalo, Oñate, Leandra Cordero, Seibold, Max A, Burchard, Esteban G, Rodriguez‐Santana, Jose

المصدر: Pediatric Pulmonology. 55(2)

مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Cystic Fibrosis, Rare Diseases, Clinical Research, Genetics, Lung, Congenital, Good Health and Well Being, Adolescent, Base Sequence, Black People, Cystic Fibrosis Transmembrane Conductance Regulator, Dominican Republic, Female, Hispanic or Latino, Humans, Male, Puerto Rico, White People, CFTR variants, health disparities, Latino, whole genome sequencing, Paediatrics and Reproductive Medicine, Respiratory System, Cardiovascular medicine and haematology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9r35v9zbTest

المؤلفون: Kleinfelder, Karina, Villella, Valeria Rachela, Hristodor, Anca Manuela, Laudanna, Carlo, Castaldo, Giuseppe, Amato, Felice, Melotti, Paola, Sorio, Claudio

المساهمون: Kleinfelder, Karina, Villella, Valeria Rachela, Hristodor, Anca Manuela, Laudanna, Carlo, Castaldo, Giuseppe, Amato, Felice, Melotti, Paola, Sorio, Claudio

مصطلحات موضوعية: CFTR modulators, CFTR variants, Ussing chamber, cystic fibrosis, nasal cells, personalized medicine, rare mutations, rectal organoids, theratyping

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37373505; info:eu-repo/semantics/altIdentifier/wos/WOS:001014792000001; volume:24; issue:12; firstpage:10358; lastpage:10371; numberofpages:14; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11562/1098966Test

الإتاحة: https://doi.org/10.3390/ijms241210358Test
https://hdl.handle.net/11562/1098966Test

المؤلفون: Hassan Rafique, Anum Safdar, Muhammad Usman Ghani, Ali Akbar, Farheena Iqbal Awan, Zartashay Naeem, Ali Amar, Mudassar Fareed Awan, Syed Wajahat Ullah, Rehan Sadiq Shaikh

مصطلحات موضوعية: Medicine, Microbiology, Genetics, Cancer, Plant Biology, Environmental Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, CFTR variants, cystic fibrosis, South Asia, Iran, Pakistan, India, Afghanistan, Sri Lanka

العلاقة: https://figshare.com/articles/journal_contribution/Exploring_the_diversity_of_i_CFTR_i_gene_mutations_in_cystic_fibrosis_individuals_of_South_Asia/24913480Test

الإتاحة: https://doi.org/10.6084/m9.figshare.24913480.v1Test
https://figshare.com/articles/journal_contribution/Exploring_the_diversity_of_i_CFTR_i_gene_mutations_in_cystic_fibrosis_individuals_of_South_Asia/24913480Test

المؤلفون: Karina Kleinfelder, Valeria Rachela Villella, Anca Manuela Hristodor, Carlo Laudanna, Giuseppe Castaldo, Felice Amato, Paola Melotti, Claudio Sorio

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 12; Pages: 10358

مصطلحات موضوعية: rectal organoids, CFTR modulators, nasal cells, rare mutations, cystic fibrosis, theratyping, Ussing chamber, personalized medicine, CFTR variants

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Biochemistry; https://dx.doi.org/10.3390/ijms241210358Test

الإتاحة: https://doi.org/10.3390/ijms241210358Test

المؤلفون: Eli Fritz McDonald, Kathryn E. Oliver, Jonathan P. Schlebach, Jens Meiler, Lars Plate

مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Biotechnology, Evolutionary Biology, Infectious Diseases, Plant Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, therefore still needed, single amino acid, score correlated well, fair classification performance, cystic fibrosis –, pancreatic insufficiency rate, pseudomonas aeruginosa <, cftr residues overall, cftr channel function, div >< p, missense variants based, cftr missense variants, missense variants, infection rate, cftr <, cftr variants, vitro <, theratype <, cftr trafficking, cftr protein, cf variants

العلاقة: https://figshare.com/articles/figure/AlphaMissense_prediction_correlations_with_cystic_fibrosis_patient_pathogenicity_metrics_by_diagnosis_/25064510Test

الإتاحة: https://doi.org/10.1371/journal.pone.0297560.s003Test
https://figshare.com/articles/figure/AlphaMissense_prediction_correlations_with_cystic_fibrosis_patient_pathogenicity_metrics_by_diagnosis_/25064510Test

المؤلفون: Eli Fritz McDonald, Kathryn E. Oliver, Jonathan P. Schlebach, Jens Meiler, Lars Plate

مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Biotechnology, Evolutionary Biology, Infectious Diseases, Plant Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, therefore still needed, single amino acid, score correlated well, fair classification performance, cystic fibrosis –, pancreatic insufficiency rate, pseudomonas aeruginosa <, cftr residues overall, cftr channel function, div >< p, missense variants based, cftr missense variants, missense variants, infection rate, cftr <, cftr variants, vitro <, theratype <, cftr trafficking, cftr protein, cf variants

العلاقة: https://figshare.com/articles/figure/AlphaMissense_correlation_with_CFTR_i_in_vitro_i_data_from_spatial_covariance_study_/25064519Test

الإتاحة: https://doi.org/10.1371/journal.pone.0297560.s005Test
https://figshare.com/articles/figure/AlphaMissense_correlation_with_CFTR_i_in_vitro_i_data_from_spatial_covariance_study_/25064519Test

المؤلفون: Eli Fritz McDonald, Kathryn E. Oliver, Jonathan P. Schlebach, Jens Meiler, Lars Plate

مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Biotechnology, Evolutionary Biology, Infectious Diseases, Plant Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, therefore still needed, single amino acid, score correlated well, fair classification performance, cystic fibrosis –, pancreatic insufficiency rate, pseudomonas aeruginosa <, cftr residues overall, cftr channel function, div >< p, missense variants based, cftr missense variants, missense variants, infection rate, cftr <, cftr variants, vitro <, theratype <, cftr trafficking, cftr protein, cf variants

العلاقة: https://figshare.com/articles/figure/Distributions_of_experimental_data_and_error_from_Bihler_et_al_study_for_filtering_purposes_/25064513Test

الإتاحة: https://doi.org/10.1371/journal.pone.0297560.s004Test
https://figshare.com/articles/figure/Distributions_of_experimental_data_and_error_from_Bihler_et_al_study_for_filtering_purposes_/25064513Test

المؤلفون: Eli Fritz McDonald, Kathryn E. Oliver, Jonathan P. Schlebach, Jens Meiler, Lars Plate

مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Biotechnology, Evolutionary Biology, Infectious Diseases, Plant Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, therefore still needed, single amino acid, score correlated well, fair classification performance, cystic fibrosis –, pancreatic insufficiency rate, pseudomonas aeruginosa <, cftr residues overall, cftr channel function, div >< p, missense variants based, cftr missense variants, missense variants, infection rate, cftr <, cftr variants, vitro <, theratype <, cftr trafficking, cftr protein, cf variants

العلاقة: https://figshare.com/articles/figure/Alternative_prediction_method_performance_and_dataset_overlap_/25064507Test

الإتاحة: https://doi.org/10.1371/journal.pone.0297560.s002Test
https://figshare.com/articles/figure/Alternative_prediction_method_performance_and_dataset_overlap_/25064507Test

المؤلفون: Eli Fritz McDonald, Kathryn E. Oliver, Jonathan P. Schlebach, Jens Meiler, Lars Plate

مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Biotechnology, Evolutionary Biology, Infectious Diseases, Plant Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, therefore still needed, single amino acid, score correlated well, fair classification performance, cystic fibrosis –, pancreatic insufficiency rate, pseudomonas aeruginosa <, cftr residues overall, cftr channel function, div >< p, missense variants based, cftr missense variants, missense variants, infection rate, cftr <, cftr variants, vitro <, theratype <, cftr trafficking, cftr protein, cf variants

العلاقة: https://figshare.com/articles/figure/Deep_mutational_scanning_data_for_VX-661_and_VX-445_response_colored_by_AlphaMissense_pathogenicity_score_/25064522Test

الإتاحة: https://doi.org/10.1371/journal.pone.0297560.s006Test
https://figshare.com/articles/figure/Deep_mutational_scanning_data_for_VX-661_and_VX-445_response_colored_by_AlphaMissense_pathogenicity_score_/25064522Test