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Highway to Cell: Selection of the Best Cell-Penetrating Peptide to Internalize the CFTR-Stabilizing iCAL36 Peptide

Autor: Quentin Seisel, Israpong Lakumpa, Emilie Josse, Eric Vivès, Jessica Varilh, Magali Taulan-Cadars, Prisca Boisguérin

Publikováno v: Pharmaceutics, Vol 14, Iss 4, p 808 (2022)

Therapeutic peptides have regained interest as they can address unmet medical needs and can be an excellent complement to pharmaceutic small molecules and other macromolecular therapeutics. Over the past decades, correctors and potentiators of the cy

Externí odkaz: https://doaj.org/article/305f1631f2c34a4aa01a089357f94cb3

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Epidemiological Profile of Hospitalized Patients with Cystic Fibrosis in Brazil Due to Severe Acute Respiratory Infection during the COVID-19 Pandemic and a Systematic Review of Worldwide COVID-19 in Those with Cystic Fibrosis

Autor: Marson, Leonardo Souza Marques, Matheus Negri Boschiero, Nathália Mariana Santos Sansone, Letícia Rulli Brienze, Fernando Augusto Lima

Publikováno v: Healthcare; Volume 11; Issue 13; Pages: 1936

Since the onset of the coronavirus disease, COVID-19 pandemic, concern arose for those who might be at higher risk of a worse COVID-19 prognosis, such as those with cystic fibrosis (CF). In this context, we evaluated the features of hospitalized pati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=multidiscipl::ef2f1f610ab27cc62550105fc00e694f

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Akademický článek

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Functional Profiling of CFTR-Directed Therapeutics Using Pediatric Patient-Derived Nasal Epithelial Cell Models

Autor: Brian A. Pollok, Anura Shrivastava, Ngoc P. Ly, Jeffrey KiHyun Park, Walter E. Finkbeiner, Elizabeth R. Gibb, Chengkang Zhang, Beate Illek

Publikováno v: Frontiers in Pediatrics, Vol 8 (2020)

Functional profiling of CFTR-directed therapeutics offers the potential to provide significant benefits to young people with cystic fibrosis (CF). However, the development of 2D airway epithelial cell models for individual response tests in CF childr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8a18cc9f61307352d1d8d2e5fc43f2e
https://escholarship.org/uc/item/2n72q3hk

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A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis

Autor: Claire Guissart, Victoria Viart, Eric Bieth, Anne Girardet, Cécile Rouzier, Marie-Claire Vincent, Vanessa Debant, Mireille Claustres, Philippe Khau Van Kien, Emmanuelle Haquet, Caroline Raynal, Marie-Pierre Brechard, Frédéric Tran Mau Them, Michel Koenig, Jacques Puechberty, Charlotte Dubucs, Victoria Pritchard, Amandine Boureau-Wirth

Publikováno v: Fetal Diagnosis and Therapy
Fetal Diagnosis and Therapy, Karger, 2019, 45 (6), pp.403-412. ⟨10.1159/000489776⟩

Background: Analysis of cell-free fetal DNA in maternal plasma is very promising for early diagnosis of monogenic diseases. However, it has been limited by the need to set up patient- or disease-specific custom-made approaches. Here we propose a univ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5243e143fc178a947bc04165f5bebd52
https://hal.umontpellier.fr/hal-02434874

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Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation

Autor: D. Dupin Deguine, C. Dubucs, Mireille Claustres, A. Girardet, P. Khau Van Kien, C. Rouzier, Marie-Pierre Brechard, F. Tran Mau Them, Michel Koenig, Amandine Boureau-Wirth, Marie-Claire Vincent, Vanessa Debant, Eric Bieth, Claire Guissart, Emmanuelle Haquet, Jacques Puechberty, C. Raynal, Victoria Pritchard

Publikováno v: Journal of Cystic Fibrosis
Journal of Cystic Fibrosis, Elsevier, 2017, 16 (2), pp.198-206. ⟨10.1016/j.jcf.2016.12.011⟩

International audience; BACKGROUND:Analysis of cell-free foetal DNA (cff-DNA) in maternal plasma is very promising for early diagnosis of monogenic diseases; in particular, cystic fibrosis (CF). However, NIPD of single-gene disorders has been limited

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d62f39c6e0b4126705f338fc37386de
https://hal.archives-ouvertes.fr/hal-01792996

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The CF-modifying gene EHF promotes p.Phe508del-CFTR residual function by altering protein glycosylation and trafficking in epithelial cells

Autor: Silke Hedtfeld, Tim Becker, Frauke Stanke, Burkhard Tümmler, Andrea van Barneveld, Stefan Wölfl

Publikováno v: European Journal of Human Genetics
European journal of human genetics 22(5), 660-666 (2013). doi:10.1038/ejhg.2013.209

The three-base-pair deletion c.1521_1523delCTT (p.Phe508del, F508del) in the cystic fibrosis transmembrane conductance regulator (CFTR) is the most frequent disease-causing lesion in cystic fibrosis (CF). The CFTR gene encodes a chloride and bicarbon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a49b1e1dfff531e80706c3bcf1279f04
https://doi.org/10.1038/ejhg.2013.209

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