Cystic fibrosis genetics: from molecular understanding to clinical application

GR Cutting - Nature Reviews Genetics, 2015 - nature.com
The availability of the human genome sequence and tools for interrogating individual
genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian …

Progress in therapies for cystic fibrosis

K De Boeck, MD Amaral - The Lancet Respiratory Medicine, 2016 - thelancet.com
Standard follow-up and symptomatic treatment have allowed most patients with cystic
fibrosis to live to young adulthood. However, many patients still die prematurely from …

An intercrypt subpopulation of goblet cells is essential for colonic mucus barrier function

EEL Nyström, B Martinez-Abad, L Arike… - Science, 2021 - science.org
INTRODUCTION An intricate balance with our intestinal microbes is pivotal to human health.
A key interface of host-microbial interactions occurs in the mucus that covers the intestinal …

Identification of a selective and direct NLRP3 inhibitor to treat inflammatory disorders

H Jiang, H He, Y Chen, W Huang, J Cheng… - Journal of Experimental …, 2017 - rupress.org
The NLRP3 inflammasome has been implicated in the pathogenesis of a wide variety of
human diseases. A few compounds have been developed to inhibit NLRP3 inflammasome …

Pseudomonas genomes: diverse and adaptable

MW Silby, C Winstanley, SAC Godfrey… - FEMS microbiology …, 2011 - academic.oup.com
Members of the genus Pseudomonas inhabit a wide variety of environments, which is
reflected in their versatile metabolic capacity and broad potential for adaptation to fluctuating …

Transplantation with autologous bone marrow‐derived mesenchymal stem cells for alcoholic cirrhosis: Phase 2 trial

KT Suk, JH Yoon, MY Kim, CW Kim, JK Kim, H Park… - Hepatology, 2016 - journals.lww.com
Bone marrow‐derived mesenchymal stem cell (BM‐MSC) transplantation has been
suggested as an effective therapy for liver cirrhosis. The efficacy and safety of autologous …

Sperm ion channels and transporters in male fertility and infertility

H Wang, LL McGoldrick, JJ Chung - Nature Reviews Urology, 2021 - nature.com
Mammalian sperm cells must respond to cues originating from along the female
reproductive tract and from the layers of the egg in order to complete their fertilization …

Neutrophil elastase, proteinase 3, and cathepsin G as therapeutic targets in human diseases

B Korkmaz, MS Horwitz, DE Jenne, F Gauthier - Pharmacological reviews, 2010 - ASPET
Polymorphonuclear neutrophils are the first cells recruited to inflammatory sites and form the
earliest line of defense against invading microorganisms. Neutrophil elastase, proteinase 3 …

Cystic fibrosis: a mucosal immunodeficiency syndrome

TS Cohen, A Prince - Nature medicine, 2012 - nature.com
Cystic fibrosis transmembrane conductance regulator (CFTR) functions as a channel that
regulates the transport of ions and the movement of water across the epithelial barrier …

The human ATP-binding cassette (ABC) transporter superfamily

M Dean, Y Hamon, G Chimini - Journal of lipid research, 2001 - ASBMB
The transport of specific molecules across lipid membranes is an essential function of all
living organisms and a large number of specific transporters have evolved to carry out this …