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 …
cystic fibrosis transmembrane conductance regulator (CFTR) protein, a chloride channel at …
[HTML][HTML] Colorectal cancer: The epigenetic role of microbiome
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 …
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 …
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 …
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 …
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 …
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 …
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
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 …
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
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 …
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 …
summarizes research and cases related to Cystic Fibrosis Transmembrane Conductance …