Results 111 to 120 of about 71,270 (242)
Discovery of the Principal Cystic Fibrosis Mutation (F508del) in Ancient DNA from Iron Age Europeans [PDF]
, 2007 The most common, life-threatening autosomal recessive disease of Europeans and Euro-Americans, cystic fibrosis (CF), occurs predominately in patients with the F508del mutation.1 Although F508del is currently detectable as a single allele in 1/30-1/40 ...
Cedric Le Marechal +4 more
core +1 more source
Allergy, EarlyView.ABSTRACT In the last decades, critical advancements in research technology and knowledge on disease mechanisms steered therapeutic approaches for chronic inflammatory diseases towards unprecedented target specificity. For allergic and chronic lung diseases, biologic drugs pioneered this goal, acquiring on the way—through the clinical use of monoclonal ...
F. Roth‐Walter +20 more
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
Intestinal Atresia in Finland: Maternal Risk Factors, Prevalence, Associated Anomalies and Survival
Acta Paediatrica, EarlyView.ABSTRACT Aim We aimed to investigate prevalence, associated anomalies and survival of congenital intestinal atresia and to examine maternal risk factors for jejunoileal atresia (JIA). Methods All children born with, or pregnancies terminated because of, JIA or colonic atresia (CA) in Finland during 1987–2019 were identified from the Finnish Register of
Esko Tahkola +9 more
wiley +1 more source
Revision of Madagascar's Dwarf Lemurs (Cheirogaleidae:Cheirogaleus): Designation of Species, Candidate Species Status and Geographic Boundaries Based on Molecular and Morphological Data [PDF]
, 2014 The genus Cheirogaleus, the dwarf lemurs, is a radiation of strepsirrhine primates endemic to the island of Madagascar. The dwarf lemurs are taxonomically grouped in the family Cheirogaleidae (Infraorder: Lemuriformes) along with the genera Microcebus,
Bailey, Carolyn A +10 more
core +1 more source
Comparing perinatal outcomes in gestational and cystic‐fibrosis related diabetes
International Journal of Gynecology &Obstetrics, EarlyView.
Briana Clifton +5 more
wiley +1 more source
Acta Paediatrica, EarlyView.ABSTRACT Aim Children with cystic fibrosis (CF) face substantial daily treatment burdens and the effects of transmembrane conductance regulator modulators on these have not been sufficiently described. We evaluated changes in treatment burden after elexacaftor tezacaftor ivacaftor (ETI) was initiated.
Marcus Svedberg +5 more
wiley +1 more source
Colliders and conformal interfaces
, 2019 We set up a scattering experiment of matter against an impurity which separates two generic one-dimensional critical quantum systems. We compute the flux of reflected and transmitted energy, thus defining a precise measure of the transparency of the ...
Meineri, Marco +2 more
core +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 +2 more
wiley +1 more source
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 +4 more
wiley +1 more source