Cargando…

Personalized CFTR Modulator Therapy for G85E and N1303K Homozygous Patients with Cystic Fibrosis

CFTR modulator therapy with elexacaftor/tezacaftor/ivacaftor (ETI) has been approved for people with CF and at least one F508del allele in Europe. In the US, the ETI label has been expanded to 177 rare CFTR mutations responsive in Fischer rat thyroid cells, including G85E, but not N1303K. However, k...

Descripción completa

Detalles Bibliográficos
Autores principales:	Graeber, Simon Y., Balázs, Anita, Ziegahn, Niklas, Rubil, Tihomir, Vitzthum, Constanze, Piehler, Linus, Drescher, Marika, Seidel, Kathrin, Rohrbach, Alexander, Röhmel, Jobst, Thee, Stephanie, Duerr, Julia, Mall, Marcus A., Stahl, Mirjam
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10418744/ https://www.ncbi.nlm.nih.gov/pubmed/37569738 http://dx.doi.org/10.3390/ijms241512365

Ejemplares similares

Effects of elexacaftor/tezacaftor/ivacaftor therapy on mental health of patients with cystic fibrosis
por: Piehler, Linus, 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)

Age-Related Differences in Structure and Function of Nasal Epithelial Cultures From Healthy Children and Elderly People
por: Balázs, Anita, et al.
Publicado: (2022)

Potential of Intestinal Current Measurement for Personalized Treatment of Patients with Cystic Fibrosis
por: Graeber, Simon Y., et al.
Publicado: (2021)

Rescue of NBD2 Mutants N1303K and S1235R of CFTR by Small-Molecule Correctors and Transcomplementation
por: Rapino, Daniele, et al.
Publicado: (2015)

Involvement of F1296 and N1303 of CFTR in induced-fit conformational change in response to ATP binding at NBD2
por: Szollosi, Andras, et al.
Publicado: (2010)

DNAJB12 and Hsp70 triage arrested intermediates of N1303K-CFTR for endoplasmic reticulum-associated autophagy
por: He, Lihua, et al.
Publicado: (2021)

Upgrading of high power klystron YK1303
por: Isagawa, S, et al.
Publicado: (1994)

Effects of Lumacaftor/Ivacaftor on Cystic Fibrosis Disease Progression in Children 2 through 5 Years of Age Homozygous for F508del-CFTR: A Phase 2 Placebo-controlled Clinical Trial
por: Stahl, Mirjam, et al.
Publicado: (2023)

Findings of a 1303 Korean whole-exome sequencing study
por: Kwak, Soo Heon, et al.
Publicado: (2017)

Impact of lockdown during the COVID-19 pandemic on health status in patients with cystic fibrosis: a mono-centre observational study
por: Thee, Stephanie, et al.
Publicado: (2022)

Effects of lumacaftor—ivacaftor therapy on cystic fibrosis transmembrane conductance regulator function in F508del homozygous patients with cystic fibrosis aged 2–11 years
por: Berges, Julian, et al.
Publicado: (2023)

1303. Pelvic Acute Hematogenous Osteomyelitis in Children, from 2012-2020
por: Clemente, Adriana Sarmiento, et al.
Publicado: (2023)

The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia
por: Banjar, Hanaa, et al.
Publicado: (2017)

Runs 1302 and 1303, 3.5 GeV/c Ring 2
por: Baird, S
Publicado: (1983)

Evaluation of DSD training schools organized by cost action BM1303 “DSDnet”
por: Bertalan, R., et al.
Publicado: (2018)

Clinical efficacy of elexacaftor-tezacaftor-ivacaftor in an adolescent with homozygous G85E cystic fibrosis
por: Stekolchik, Elena, et al.
Publicado: (2022)

The K(+) Channel Opener 1-EBIO Potentiates Residual Function of Mutant CFTR in Rectal Biopsies from Cystic Fibrosis Patients
por: Roth, Eva K., et al.
Publicado: (2011)

A novel thiol-saccharide mucolytic for the treatment of muco-obstructive lung diseases
por: Addante, Annalisa, et al.
Publicado: (2023)

Two Siblings Homozygous for F508del-CFTR Have Varied Disease Phenotypes and Protein Biomarkers
por: Zhang, Zhihong, et al.
Publicado: (2021)

N1303K (c.3909C>G) Mutation and Splicing: Implication of Its c.[744-33GATT(6); 869+11C>T] Complex Allele in CFTR Exon 7 Aberrant Splicing
por: Farhat, Raëd, et al.
Publicado: (2015)

OA13.03. Promoting safe and integrated maternity care through interprofessional education
por: Steel, A, et al.
Publicado: (2012)

MiR-1303 Regulates Mycobacteria Induced Autophagy by Targeting Atg2B
por: Au, Kin Yi, et al.
Publicado: (2016)

1303. Characterization of Isavuconazole Serum Concentrations with Various Administration Routes in a Hospitalized Cohort
por: Spivey, Justin, et al.
Publicado: (2020)

Regular football training down-regulates miR-1303 muscle expression in veterans
por: Mancini, A., et al.
Publicado: (2021)

1303. Provider Knowledge and Attitudes Toward Antibiotic Prescribing and Antibiotic Stewardship in Outpatient Rural Clinics
por: Kufel, Wesley, et al.
Publicado: (2018)

1303. Making Infectious Disease Fellowship More Rashional: A Needs Assessment of Program Directors
por: Rockney, Danica, et al.
Publicado: (2022)

ENaC inhibition in cystic fibrosis: potential role in the new era of CFTR modulator therapies
por: Mall, Marcus A.
Publicado: (2020)

Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report
por: Jaworska, Joanna, et al.
Publicado: (2020)

DeltaF508 CFTR Hetero- and Homozygous Paediatric Patients with Cystic Fibrosis Do Not Differ with Regard to Nutritional Status
por: Mędza, Aleksandra, et al.
Publicado: (2021)

Complete Genome Sequences of Escherichia coli Strains 1303 and ECC-1470 Isolated from Bovine Mastitis
por: Leimbach, Andreas, et al.
Publicado: (2015)

Closed Genome Sequence of Bacillus paralicheniformis Strain CBMAI 1303, a Bacterium Applied for Phytopathogen Biocontrol
por: Pylro, Victor Satler, et al.
Publicado: (2019)

1303. Impact of Pharmacy Type on HIV Viral Suppression at a University-Based HIV Clinic in the Midwest
por: Havens, Josh, et al.
Publicado: (2019)

FP13.03 The Impact of the COVID-19 Pandemic on Lung Cancer Screening Programs in the United States
por: King, J., et al.
Publicado: (2021)

The mutual regulatory loop between TPTEP1 and miR-1303 in leukemogenesis of acute myeloid leukemia
por: Li, Li, et al.
Publicado: (2021)

Phase II study of BKM120 in patients with advanced esophageal squamous cell carcinoma (EPOC1303)
por: Kojima, Takashi, et al.
Publicado: (2022)

Modeling long-term health outcomes of patients with cystic fibrosis homozygous for F508del-CFTR treated with lumacaftor/ivacaftor
por: Rubin, Jaime L., et al.
Publicado: (2019)

Prediction of Real-World Long-Term Outcomes of People with CF Homozygous for the F508del Mutation Treated with CFTR Modulators
por: Muilwijk, Danya, et al.
Publicado: (2021)

Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 ‘DSDnet’
por: Kulle, A, et al.
Publicado: (2017)

GluN2B S1303 phosphorylation by CaMKII or DAPK1: no indication for involvement in ischemia or LTP
por: Tullis, Jonathan E., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_ki64qb06c100jdnmc2l25maggv