Beeld op de omslag

Double homozygous Cystic Fibrosis Transmembrane Regulator gene (CFTR) mutation: A case series and review of the literature

<p>Introduction: Double homozygous mutation with the presence of double mutations in each allele is a very rare phenomenon with only 2 reports that have described this phenomenon in the medical literature.</p><p>Objective: To find the prevalence of double homozygous in our Cf popul...

Volledige beschrijving

Bewaard in:

Bibliografische gegevens
Hoofdauteurs:	Hanaa Banjar (Auteur), Wesam Alkassas (Auteur), Firas Ghomraoui (Auteur), Reem Ghomraoui (Auteur), Nabil Moghrabi (Auteur)
Formaat:	Boek
Gepubliceerd in:	Global Journal of Rare Diseases - Peertechz Publications, 2020-08-18.
Onderwerpen:	Case Study
Online toegang:	Connect to this object online.
Tags:	Voeg label toe Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Ubiquitylation as a Novel Pharmaceutical Target for Cystic Fibrosis
door: Ryosuke Fukuda, et al.
Gepubliceerd in: (2020)

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

State of the Art on Approved Cystic Fibrosis Transmembrane Conductance Regulator (<i>CFTR</i>) Modulators and Triple-Combination Therapy
door: Aniello Meoli, et al.
Gepubliceerd in: (2021)

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

Cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis: current perspectives
door: Schmidt BZ, et al.
Gepubliceerd in: (2016)

Novel Action of the Chalcone Isoliquiritigenin as a Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Inhibitor: Potential Therapy for Cholera and Polycystic Kidney Disease
door: Chatchai Muanprasat, et al.
Gepubliceerd in: (2012)

Paediatric Thoracic Imaging in Cystic Fibrosis in the Era of Cystic Fibrosis Transmembrane Conductance Regulator Modulation
door: Patrick W. O'Regan, et al.
Gepubliceerd in: (2024)

CFTR and Ca2+ signaling in cystic fibrosis
door: Fabrice eAntigny, et al.
Gepubliceerd in: (2011)

Strategies to circumvent the CFTR defect in cystic fibrosis
door: Frederic eBecq, et al.
Gepubliceerd in: (2013)

Fibrosis quística: patogenia bacteriana y moduladores del CFTR (regulador de conductancia transmembranal de la fibrosis quística)
door: Silvia Y. Vargas-Roldán, et al.
Gepubliceerd in: (2022)

Nutritional impact of CFTR modulators in children with cystic fibrosis
door: Margaux Gaschignard, et al.
Gepubliceerd in: (2023)

Inflammation and CFTR: Might Neutrophils be the Key in Cystic Fibrosis?
door: V. Witko-Sarsat, et al.
Gepubliceerd in: (1999)

Effectiveness and Safety of Cystic Fibrosis Transmembrane Conductance Regulator Modulators in Children With Cystic Fibrosis: A Meta-Analysis
door: Qiyu Li, et al.
Gepubliceerd in: (2022)

Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation
door: Haiyan Li, et al.
Gepubliceerd in: (2019)

CFTR modulators: Shedding light on precision medicine for cystic fibrosis
door: Miquéias Lopes-Pacheco
Gepubliceerd in: (2016)

Precision Medicine Based on CFTR Genotype for People with Cystic Fibrosis
door: Haq I, et al.
Gepubliceerd in: (2022)

Molecular chaperones as targets to circumvent the CFTR defect in cystic fibrosis
door: Rebecca A Chanoux, et al.
Gepubliceerd in: (2012)

Triplet CFTR modulators: future prospects for treatment of cystic fibrosis
door: Chaudary N
Gepubliceerd in: (2018)

The effect of CFTR modulators on structural lung disease in cystic fibrosis
door: L. Clara Mok, et al.
Gepubliceerd in: (2023)

CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine
door: Miquéias Lopes-Pacheco
Gepubliceerd in: (2020)

Recent Progress in CFTR Interactome Mapping and Its Importance for Cystic Fibrosis
door: Sang Hyun Lim, et al.
Gepubliceerd in: (2018)

Prevalência da mutação ΔF508 no gene cystic fibrosis transmembrane conductance regulator em pacientes com fibrose cística em um centro de referência no Brasil Prevalence of ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator gene among cystic fibrosis patients from a Brazilian referral center
door: Andréia Marisa Bieger, et al.
Gepubliceerd in: (2012)

Characterization of the Trafficking Pathway of Cystic Fibrosis Transmembrane Conductance Regulator in Baby Hamster Kidney Cells
door: Tsukasa Okiyoneda, et al.
Gepubliceerd in: (2004)

A Comparative Analysis of Pricing and Reimbursement of Cystic Fibrosis Transmembrane Conductance Regulator Modulators in Europe
door: Khadidja Abdallah, et al.
Gepubliceerd in: (2021)

Modulators of CFTR protein function in the treatment of cystic fibrosis - a literature review
door: Dariusz Chojęta, et al.
Gepubliceerd in: (2022)

The Exocrine Pancreas in Cystic Fibrosis in the Era of CFTR Modulation: A Mini Review
door: Isabelle R. McKay, et al.
Gepubliceerd in: (2022)

Efficacy and Safety of Triple Combination Cystic Fibrosis Transmembrane Conductance Regulator Modulators in Patients With Cystic Fibrosis: A Meta-Analysis of Randomized Controlled Trials
door: Yizi Wang, et al.
Gepubliceerd in: (2022)

Cystic fibrosis, with a focus on new therapies for causal treatment - CFTR protein modulators
door: Klara Iwaniszyn-Zapołoch, et al.
Gepubliceerd in: (2022)

Real-life impact of highly effective CFTR modulator therapy in children with cystic fibrosis
door: Margarete Olivier, et al.
Gepubliceerd in: (2023)

Optimizing CFTR modulator therapy management for cystic fibrosis through the ReX platform
door: Karin Yaacoby-Bianu, et al.
Gepubliceerd in: (2023)

The Role of Extended <i>CFTR</i> Gene Sequencing in Newborn Screening for Cystic Fibrosis
door: Anne Bergougnoux, et al.
Gepubliceerd in: (2020)

Changes in cystic fibrosis transmembrane conductance regulator protein expression prior to and during elexacaftor-tezacaftor-ivacaftor therapy
door: Frauke Stanke, et al.
Gepubliceerd in: (2023)

CFTR mutations and phenotypic correlations in people with cystic fibrosis: a retrospective study from a single centre in south IndiaResearch in context
door: Sneha D. Varkki, et al.
Gepubliceerd in: (2024)

Outcomes of children with cystic fibrosis screen positive, inconclusive diagnosis/CFTR related metabolic syndrome
door: Mohini A. Gunnett, et al.
Gepubliceerd in: (2023)

Case Report: Japanese Siblings of Cystic Fibrosis With a Novel Large Heterozygous Deletion in the CFTR Gene
door: Mayumi Kawase, et al.
Gepubliceerd in: (2022)

CFTR Modulator Therapy Enhances Peripheral Blood Monocyte Contributions to Immune Responses in People With Cystic Fibrosis
door: Katherine B. Hisert, et al.
Gepubliceerd in: (2020)

Weight increase in people with cystic fibrosis on CFTR modulator therapy is mainly due to increase in fat mass
door: Marialena Mouzaki, et al.
Gepubliceerd in: (2023)

Ouabain mimics low temperature rescue of F508del-CFTR in cystic fibrosis epithelial cells
door: Donglei eZhang, et al.
Gepubliceerd in: (2012)

Targeting the intracellular environment in cystic fibrosis: restoring autophagy as a novel strategy to circumvent the CFTR defect
door: Valeria Rachela Villella, et al.
Gepubliceerd in: (2013)

Single-Dose Lentiviral Mediated Gene Therapy Recovers CFTR Function in Cystic Fibrosis Knockout Rats
door: Nicole Reyne, et al.
Gepubliceerd in: (2021)