Assays of CFTR function in vitro, ex vivo and in vivo

AS Ramalho, M Boon, M Proesmans… - International journal of …, 2022 - mdpi.com
Cystic fibrosis, a multi-organ genetic disease, is characterized by abnormal function of the
cystic fibrosis transmembrane conductance regulator (CFTR) protein, a chloride channel at …

[HTML][HTML] Colorectal cancer: The epigenetic role of microbiome

H Sabit, E Cevik, H Tombuloglu - World journal of clinical cases, 2019 - ncbi.nlm.nih.gov
Colorectal cancer (CRC) is the third most common cancer in men (746000 cases per year)
and the second most common cancer in women globally (614000 cases per year). The …

ECFS standards of care on CFTR-related disorders: diagnostic criteria of CFTR dysfunction

I Sermet-Gaudelus, E Girodon, F Vermeulen… - Journal of Cystic …, 2022 - Elsevier
The spectrum of disorders involving CFTR (cystic fibrosis transmembrane conductance
regulator) dysfunction correlates with a continuous gradient of CFTR function defined by the …

[HTML][HTML] CFTR modulation with elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis assessed by the β-adrenergic sweat rate assay

ST Pallenberg, S Junge, FC Ringshausen… - Journal of Cystic …, 2022 - Elsevier
Background: The cystic fibrosis (CF) sweat gland is defective in β-adrenergically-stimulated
sweat secretion in the coil and chloride reabsorption in the duct. Whereas chloride …

CFTR modulators rescue the activity of CFTR in colonoids expressing the complex allele p.[R74W; V201M; D1270N]/dele22_24

K Kleinfelder, E Somenza, A Farinazzo, J Conti… - International Journal of …, 2023 - mdpi.com
An Italian, 46-year-old female patient carrying the complex allele p.[R74W; V201M; D1270N]
in trans with CFTR dele22_24 was diagnosed at the Cystic Fibrosis (CF) Center of Verona …

[HTML][HTML] How the sweat gland reveals levels of CFTR activity

JJ Wine - Journal of Cystic Fibrosis, 2022 - Elsevier
CFTR is an anion channel that causes cystic fibrosis (CF) when its activity, equal to channel
number x open probability x conductance (n· PO· γ) is absent or nearly so. CFTR modulators …

Reclassifying inconclusive diagnosis for cystic fibrosis with new generation sweat test

T Nguyen-Khoa, A Hatton, D Drummond… - European …, 2022 - Eur Respiratory Soc
The biological diagnosis of cystic fibrosis (CF) is based on a sweat chloride (Cl−)
concentration (SCC)≥ 60 mmol· L− 1 and/or the identification of two allelic CF-causing …

In silico analysis and theraty** of an ultra-rare CFTR genotype (W57G/A234D) in primary human rectal and nasal epithelial cells

K Kleinfelder, V Lotti, A Eramo, F Amato, SL Cicero… - Iscience, 2023 - cell.com
Mutation targeted therapy in cystic fibrosis (CF) is still not eligible for all CF subjects,
especially for cases carrying rare variants such as the CFTR genotype W57G/A234D (c …

Image-based β-adrenergic sweat rate assay captures minimal cystic fibrosis transmembrane conductance regulator function

DB Salinas, YH Peng, B Horwich, CP Wee… - Pediatric …, 2020 - nature.com
Background There is a need to prognosticate the severity of cystic fibrosis (CF) detected by
newborn screening (NBS) by early assessment of CF transmembrane conductance …

Cystic fibrosis year in review 2018, part 1

AP Savant, SA McColley - Pediatric pulmonology, 2019 - Wiley Online Library
Cystic fibrosis research and case reports were robust in the year 2018. This report
summarizes research and cases related to Cystic Fibrosis Transmembrane Conductance …