Results 91 to 100 of about 11,406 (228)
CFTR Modulator Response in Nasal Organoids Derived from People with Cystic Fibrosis
CellsDespite the progressive extension of CFTR variant eligibility to the triple combination of elexacaftor/tezacaftor/ivacaftor (ETI), most rare CFTR pathogenic variants remain ineligible for CFTR modulators.
Stefania Lo Cicero +15 more
doaj +1 more source
Cancer Nexus, EarlyView.ABSTRACT Lipid nanoparticles (LNPs) represent the most clinically advanced platform for RNA delivery and have enabled major breakthroughs in vaccines and gene therapies. However, their broader application is still limited by inefficient extrahepatic delivery, immunogenicity, and insufficient control over tissue‐ and cell‐specific targeting. This review
Yu Han +5 more
wiley +1 more source
Ion channels: structural basis for function and disease. [PDF]
, 1996 Ion channels are ubiquitous proteins that mediate nervous and muscular function, rapid transmembrane signaling events, and ionic and fluid balance. The cloning of genes encoding ion channels has led to major strides in understanding the mechanistic basis
Goldstein, SA
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Newborn screening for cystic fibrosis [PDF]
, 2016 Since the late 1970s when the potential of the immunoreactive trypsinogen assay for early identification of infants with cystic fibrosis was first recognised, the performance of newborn blood spot screening (NBS) has been continually assessed and its use
Castellani, C +3 more
core +1 more source
Epileptic Disorders, EarlyView.Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley +1 more source
ERJ Open Research, 2019 Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator gene (CFTR) that result in diminished quantity and/or function of the CFTR anion channel.
Jennifer L. Taylor-Cousar +11 more
doaj +1 more source
Cotranslational folding of proteins on the ribosome.
, 2020 Many proteins in the cell fold cotranslationally within the restricted space of the polypeptide exit tunnel or at the surface of the ribosome. A growing body of evidence suggests that the ribosome can alter the folding trajectory in many different ways ...
Liutkute, M., Rodnina, M., Samatova, E.
core +1 more source
The top 10 research priorities in cystic fibrosis developed by a partnership between people with CF and healthcare providers [PDF]
, 2017 There remain many treatment uncertainties in cystic fibrosis (CF). With limited resources, research should focus on questions which are most important to the CF community. We conducted a James Lind Alliance Priority Setting Partnership in CF.
Alan R Smyth +20 more
core +2 more sources
Impact of organic pollutants on phenotype and gene expression in human breast cancer cells
Journal of Applied Toxicology, EarlyView.ABSTRACT Human exposure to industrial chemical compounds is widespread and, although often beneficial, prolonged contact may contribute to disease development, including cancer. While many studies have shown organic pollutants (OP) are cytotoxic, few have explored how long‐term exposure alters cell phenotype.
Camila Confortin +7 more
wiley +1 more source
An investigation into the relationship between small intestinal fluid secretion and systemic arterial blood pressure in the anesthetized rat [PDF]
, 2015 In the absence of an ability to absorb fluid by cellular uptake mechanisms, fluid movement in vivo from the perfused rat intestine is absorptive when the diastolic blood pressure is normal or very low but is secretory when blood pressure falls below ...
Lucas, Michael, Morrison, James
core +1 more source