Results 131 to 140 of about 1,231,622 (330)

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, Massie, J, Sontag, M, Southern, KW   +3 more
core   +1 more source

New Advances of Degradable Magnesium‐Based Metal Biomaterials in the Field of Orthopedics

Rare Metals, EarlyView.
ABSTRACT Based on their outstanding biomechanical properties and superior osteogenic activity, magnesium (Mg) and its alloys have been extensively investigated for their biocompatibility and therapeutic efficacy in treating fractures and bone defects.
Jia‐Nan Yu, Shao‐Sheng Jia, Rong‐Bang Sun, Tong Zhang, Ling‐Chuang Bai, Di Mei, Shi‐Jie Zhu, Lan Chen, Shao‐Kang Guan   +8 more
wiley   +1 more source

A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation [PDF]

, 2011
BACKGROUND: Increasing the activity of defective cystic fibrosis transmembrane conductance regulator (CFTR) protein is a potential treatment for cystic fibrosis.
Bell, Scott C., Davies, Jane, Dong, Qunming, Drevinek, Pavel, Elborn, J. Stuart, Griese, Matthias, Konstan, Michael W., McElvaney, N. Gerard, McKone, Edward F., Moss, Richard, Ordonez, Claudia, Ramsey, Bonnie W., Ratjen, Felix, Rodriguez, Sally, Rowe, Steven M., Sermet-Gaudelus, Isabelle, Tullis, Elizabeth, Wainwright, Claire E., Yen, Karl   +18 more
core   +1 more source

Obstetric and Neonatal Outcomes in Pregnancies From a Dedicated Cystic Fibrosis‐Maternal Health Service: A Retrospective Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective A comprehensive review of maternal, obstetric and neonatal outcomes in pregnancies in females with cystic fibrosis (fwCF) following the introduction of Elexacaftor/Tezacaftor/Ivacaftor (ETI) therapy in a novel, dedicated CF‐Maternal Health service.
Rebecca Scott, Amy Downes, Ladina Weitnauer, Rebecca Dobra, Natasha Singh, Rachel Robinson, Emily Diable, Saraha Collins, Elaine Bowman, Thomas Tobin, Andrew Jones, Nicholas Simmonds, Imogen Felton   +12 more
wiley   +1 more source

CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine

Frontiers in Pharmacology, 2020
Cystic fibrosis (CF) is a lethal inherited disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, which result in impairment of CFTR mRNA and protein expression, function, stability or a combination of these.
Miquéias Lopes-Pacheco
doaj   +1 more source

Comparing perinatal outcomes in gestational and cystic‐fibrosis related diabetes

International Journal of Gynecology &Obstetrics, EarlyView.
Briana Clifton, Basra Osman, Katelyn M. Tessier, Kathleen S. Mahan, Amir Moheet, Sarah A. Wernimont   +5 more
wiley   +1 more source

The potential for biased signalling in the P2Y receptor family of GPCRs

British Journal of Pharmacology, EarlyView.
The purinergic receptor family is primarily activated by nucleotides, and contains members of both the G protein coupled‐receptor (GPCR) superfamily (P1 and P2Y) and ligand‐gated ion channels (P2X). The P2Y receptors are widely expressed in the human body, and given the ubiquitous nature of nucleotides, purinergic signalling is involved with a plethora
Claudia M. Sisk, Simon Pitchford, Graham Ladds   +2 more
wiley   +1 more source

Nasal cells as a bronchial cell surrogate for pre-clinical assessment of drug response in cystic fibrosis

Frontiers in Pharmacology
Patient-derived airway cell cultures are used in personalized medicine strategies for people with cystic fibrosis (pwCF) to predict potential clinical response to cystic fibrosis transmembrane conductance regulator (CFTR) modulator drugs. While bronchial
Malina Barillaro, Julie Avolio, Sharaniyaa Balachandran, Claire Bartlett, Wan Ip, Hong Ouyang, Wenming Duan, Joseph Zabner, Shaf Keshavjee, Christine Bear, Christine Bear, Theo J. Moraes, Theo J. Moraes, Tanja Gonska, Tanja Gonska   +14 more
doaj   +1 more source

Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics [PDF]

, 2019
Choroideremia (CHM) is an x-linked recessive chorioretinal dystrophy, with 30% caused by nonsense mutations in the CHM gene resulting in an in-frame premature termination codon (PTC).
Adam M Dubis, Ailsa A Welch, Andreas Mitsios, Andrew R Webster, Carter, Floquet, Freund, Gonzalez-Hilarion, Gotham, Hajrah Sarkar, Hug, Jane Skinner, Jolly, Keeling, Kerem, Linde, Linde, Lindeboom, Mariya Moosajee, Matthew Smart, Moosajee, Moosajee, Nagy, Nguyen, Nickless, Peixeiro, Pereira, Peter J Coffey, Richardson, Schwarz, Torriano, Usuki, Vasiliki Kalatzis, Welch, Yamashita, Zetoune   +35 more
core   +2 more sources

Differential segment‐specific signalling pathways for guanylate cyclase C‐activated anion secretion in murine ileocolon

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Guanylate cyclase‐C (GC‐C) is the receptor for endogenous (uro)guanylin peptides, bacterial toxins and pharmacological analogues. Receptor activation leads to intestinal fluid loss, but also activates an antiproliferative pathway and is a promising target in colorectal cancer therapy.
Renjie Xiu, Johannes Reiner, Franz Hofmann, Azam Salari, Ursula Seidler   +4 more
wiley   +1 more source