Cargando…

Theratyping of the Rare CFTR Variants E193K and R334W in Rectal Organoid-Derived Epithelial Monolayers

Background: The effect of presently available CFTR modulator combinations, such as elexacaftor (ELX), tezacaftor (TEZ), and ivacaftor (IVA), on rare CFTR alleles is often unknown. Several assays have been developed, such as forskolin-induced swelling (FIS), to evaluate the rescue of such uncommon CF...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ciciriello, Fabiana, Bijvelds, Marcel J. C., Alghisi, Federico, Meijsen, Kelly F., Cristiani, Luca, Sorio, Claudio, Melotti, Paola, Fiocchi, Alessandro G., Lucidi, Vincenzina, De Jonge, Hugo R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9027586/ https://www.ncbi.nlm.nih.gov/pubmed/35455747 http://dx.doi.org/10.3390/jpm12040632

Ejemplares similares

Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis
por: Conti, Jessica, et al.
Publicado: (2022)

Theratyping of the Rare CFTR Genotype A559T in Rectal Organoids and Nasal Cells Reveals a Relevant Response to Elexacaftor (VX-445) and Tezacaftor (VX-661) Combination
por: Kleinfelder, Karina, et al.
Publicado: (2023)

Molecular Dynamics and Theratyping in Airway and Gut Organoids Reveal R352Q-CFTR Conductance Defect
por: Wong, Sharon L., et al.
Publicado: (2022)

In silico analysis and theratyping of an ultra-rare CFTR genotype (W57G/A234D) in primary human rectal and nasal epithelial cells
por: Kleinfelder, Karina, et al.
Publicado: (2023)

An inflammatory Signature of Glucose Impairment in Cystic Fibrosis
por: Montemari, Anna Lisa, et al.
Publicado: (2022)

Ionocytes and CFTR Chloride Channel Expression in Normal and Cystic Fibrosis Nasal and Bronchial Epithelial Cells
por: Scudieri, Paolo, et al.
Publicado: (2020)

Distribution of OGTT-Related Variables in Patients with Cystic Fibrosis from Puberty to Adulthood: An Italian Multicenter Study
por: Foppiani, Andrea, et al.
Publicado: (2023)

Personalized medicine: Function of CFTR variant p.Arg334Trp is rescued by currently available CFTR modulators
por: Railean, Violeta, et al.
Publicado: (2023)

Additive Potentiation of R334W-CFTR Function by Novel Small Molecules
por: Bacalhau, Mafalda, et al.
Publicado: (2023)

Theratyping cystic fibrosis in vitro in ALI culture and organoid models generated from patient-derived nasal epithelial conditionally reprogrammed stem cells
por: Sette, Giovanni, et al.
Publicado: (2021)

Bone and body composition analyzed by Dual-energy X-ray Absorptiometry (DXA) in clinical and nutritional evaluation of young patients with Cystic Fibrosis: a cross-sectional study
por: Lucidi, Vincenzina, et al.
Publicado: (2009)

In vivo monitoring of lung inflammation in CFTR-deficient mice
por: Stellari, Fabio, et al.
Publicado: (2016)

Q1291H-CFTR molecular dynamics simulations and ex vivo theratyping in nasal epithelial models and clinical response to elexacaftor/tezacaftor/ivacaftor in a Q1291H/F508del patient
por: Allan, Katelin M., et al.
Publicado: (2023)

CFTR Modulators Rescue the Activity of CFTR in Colonoids Expressing the Complex Allele p.[R74W;V201M;D1270N]/dele22_24
por: Kleinfelder, Karina, et al.
Publicado: (2023)

Cholic Acid Induces a Cftr Dependent Biliary Secretion and Liver Growth Response in Mice
por: Bodewes, Frank A. J. A., et al.
Publicado: (2015)

Culture and differentiation of rabbit intestinal organoids and organoid-derived cell monolayers
por: Kardia, Egi, et al.
Publicado: (2021)

Defective CFTR Expression and Function Are Detectable in Blood Monocytes: Development of a New Blood Test for Cystic Fibrosis
por: Sorio, Claudio, et al.
Publicado: (2011)

Novel opportunities for CFTR-targeting drug development using organoids
por: Dekkers, Johanna F, et al.
Publicado: (2013)

CFTR Expression Analysis for Subtyping of Human Pancreatic Cancer Organoids
por: Hennig, Alexander, et al.
Publicado: (2019)

Absence of EPAC1 Signaling to Stabilize CFTR in Intestinal Organoids
por: Ferreira, João F., et al.
Publicado: (2022)

Differential thermostability and response to cystic fibrosis transmembrane conductance regulator potentiators of human and mouse F508del-CFTR
por: Bose, Samuel J., et al.
Publicado: (2019)

Impact of COVID-19 on Lung Disease in People with Cystic Fibrosis: A 6-Month Follow-Up Study on Respiratory Outcomes
por: Medino, Paola, et al.
Publicado: (2022)

New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?
por: Corleto, Vito D, et al.
Publicado: (2010)

Health Tract No. 334: Boxing the Ears
Publicado: (1868)

CFTR Function Restoration upon Elexacaftor/Tezacaftor/Ivacaftor Treatment in Patient-Derived Intestinal Organoids with Rare CFTR Genotypes
por: Lefferts, Juliet W., et al.
Publicado: (2023)

Erratum to “CFTR Expression Analysis for Subtyping of Human Pancreatic Cancer Organoids”
por: Hennig, Alexander, et al.
Publicado: (2019)

Identification of Potential Leukocyte Biomarkers Related to Drug Recovery of CFTR: Clinical Applications in Cystic Fibrosis
por: Pedrazzi, Marco, et al.
Publicado: (2021)

Anion Transport Across Human Gallbladder Organoids and Monolayers
por: Zarei, Keyan, et al.
Publicado: (2022)

Impaired Intestinal Farnesoid X Receptor Signaling in Cystic Fibrosis Mice
por: Ikpa, Pauline T., et al.
Publicado: (2019)

Severity of SARS-CoV-2 infection in a hospital population: a clinical comparison across age groups
por: Rosazza, Chiara, et al.
Publicado: (2023)

Novel CFTR modulator combinations maximise rescue of G85E and N1303K in rectal organoids
por: Ensinck, Marjolein M., et al.
Publicado: (2022)

Evaluating CRISPR-based prime editing for cancer modeling and CFTR repair in organoids
por: Geurts, Maarten H, et al.
Publicado: (2021)

picture of SiC334 target unit
por: Task#3 members
Publicado: (11/0)

Liposomes Loaded With Phosphatidylinositol 5-Phosphate Improve the Antimicrobial Response to Pseudomonas aeruginosa in Impaired Macrophages From Cystic Fibrosis Patients and Limit Airway Inflammatory Response
por: Poerio, Noemi, et al.
Publicado: (2020)

Scaffolds obtained from decellularized human extrahepatic bile ducts support organoids to establish functional biliary tissue in a dish
por: Willemse, Jorke, et al.
Publicado: (2020)

Ouabain Mimics Low Temperature Rescue of F508del-CFTR in Cystic Fibrosis Epithelial Cells
por: Zhang, Donglei, et al.
Publicado: (2012)

The $^{191,193}$Hg and $^{191,193}$Au positon decays
por: Vieu, C, et al.
Publicado: (1976)

Unravelling druggable signalling networks that control F508del-CFTR proteostasis
por: Hegde, Ramanath Narayana, et al.
Publicado: (2015)

Technical Report Abstracts: TR-293 to TR-334
Publicado: (1993)

334 Asthma in the Elderly: A Mexican Point of View
por: Perez-Chavira, Maria Rosario
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_e78alpmoq4kgsiijp0dknenjam