Results 81 to 90 of about 1,046,440 (397)

Spatiotemporal Transcriptomic Profiling Reveals the Dynamic Immunological Landscape of Alveolar Echinococcosis

Advanced Science, EarlyView.
An unprecedented high‐resolution spatial atlas of the E. multilocularis infection foci is obtained, revealing the dynamic functions of neutrophils, Spp1+ macrophages, and fibroblasts during disease progression. The transition of parasite control strategy from “active killing” to “negative segregation” by the host may provide instructive insights into ...
Zhihua Ou, Li Li, Peidi Ren, Ting‐Ting Zhou, Fan He, Jialing Chen, Huimin Cai, Xiumin Han, Yao‐Dong Wu, Jiandong Li, Xiu‐Rong Li, Qiming Tan, Wenhui Li, Qi Chen, Nian‐Zhang Zhang, Xiuju He, Wei‐Gang Chen, Yanping Zhao, Jiwen Sun, Qian Zhang, Yan‐Tao Wu, Yingan Liang, Jie You, Guohai Hu, Xue‐Qi Tian, Sha Liao, Bao‐Quan Fu, Ao Chen, Xue‐Peng Cai, Huanming Yang, Jian Wang, Xin Jin, Xun Xu, Wan‐Zhong Jia, Junhua Li, Hong‐Bin Yan   +35 more
wiley   +1 more source

The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals

Human Mutation, Volume 43, Issue 12, Page 1872-1881, December 2022., 2022
Abstract ABCC6 promotes ATP efflux from hepatocytes to bloodstream. ATP is metabolized to pyrophosphate, an inhibitor of ectopic calcification. Pathogenic variants of ABCC6 cause pseudoxanthoma elasticum, a highly variable recessive ectopic calcification disorder.
Flora Szeri, Agnes Miko, Nastassia Navasiolava, Ambrus Kaposi, Shana Verschuere, Beatrix Molnar, Qiaoli Li, Sharon F. Terry, Federica Boraldi, Jouni Uitto, Koen van de Wetering, Ludovic Martin, Daniela Quaglino, Olivier M. Vanakker, Kalman Tory, Tamas Aranyi   +15 more
wiley   +1 more source

UK Cystic Fibrosis Registry Website Enhancements: A User-Centred Approach to the Data Access Transparency

International Journal of Population Data Science
Background As a member of the HDR UK Alliance, Cystic Fibrosis Trust is committed to adopting and maintaining the transparency standards within the UK CF Registry (UKCFR).
Poh-Choo Pang, Sarah Clarke
doaj   +1 more source

A non-randomised single centre cohort study, comparing standard and modified bowel preparations, in adults with cystic fibrosis requiring colonoscopy

BMC Gastroenterology, 2019
Background Adults with cystic fibrosis (CF) have been reported to be at five to ten-fold risk (25 to 30 fold risk after solid organ transplant) of colorectal cancer (CRC) than the general population.
A. G. Matson, J. P. Bunting, A. Kaul, D. J. Smith, J. Stonestreet, K. Herd, R. S. Hodgson, S. C. Bell   +7 more
doaj   +1 more source

Epithelial mesenchymal transition (EMT): a universal process in lung diseases with implications for cystic fibrosis pathophysiology

Respiratory Research, 2018
Cystic Fibrosis (CF) is a genetic disorder that arises due to mutations in the Cystic Fibrosis Transmembrane Conductance Regulator gene, which encodes for a protein responsible for ion transport out of epithelial cells.
N. Rout-Pitt, N. Farrow, D. Parsons, M. Donnelley   +3 more
semanticscholar   +1 more source

Coordinated Role of Autophagy and ERAD in Maintaining Neuroendocrine Function by Preventing Prohormone Aggregation

Advanced Science, EarlyView.
By studying the maturation mechanisms of vasopressin (AVP), this manuscript identifies FAM134B‐mediated ER‐phagy as a critical pathway for degrading both aggregated proAVP and the key ERAD component, HRD1. HRD1 induction mitigates proAVP aggregation and support AVP neuron function in the absence of autophagy.
Xuya Pan, Xing He, Su Wu, Na Xiong, Xinyu Hou, Heting Wang, Diane Somlo, Martin Spiess, Haiyang Wang, Jifeng Yang, Chunliang Li, Shasha Li, Wenbin Ma, Yanming Chen, Jun Cui, Ling Qi, Guojun Shi   +16 more
wiley   +1 more source

National survey on pediatric respiratory physiotherapy units: primary ciliary dyskinesia and non-CF bronchiectasis

Italian Journal of Pediatrics
Background Currently, there is a lack of data concerning the organization and characteristics of Italian pediatric physiotherapy units for the treatment of patients with chronic lung diseases, especially those with rare conditions such as Primary Ciliary
Beatrice Tani, Nicola Ullmann, Paola Leone, Alessandra Boni, Eugenio Barbieri, Matteo D’Angelo, Sara De Dominicis, Beniamino Giacomodonato, Stefania Monduzzi, Irene Piermarini, Chiara Pizziconi, Beatrice Ferrari, Renato Cutrera   +12 more
doaj   +1 more source

ROCK STUDY in CF: sustained anti-inflammatory effects of lumacaftor–ivacaftor in sputum and peripheral blood samples of adult patients with cystic fibrosis—an observational study

BMJ Open Respiratory Research, 2023
Background Previous studies showed that the combination of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) corrector and potentiator, lumacaftor–ivacaftor (LUMA–IVA) provides meaningful clinical benefits in patients with cystic fibrosis who ...
Desmond M Murphy, B J Plant, Joseph A Eustace, Parniya Arooj, David V Morrissy, Yvonne McCarthy, Tamara Vagg, Mairead McCarthy, Claire Fleming, Mary Daly   +9 more
doaj   +1 more source

Relationship between pulmonary exacerbations and daily physical activity in adults with cystic fibrosis [PDF]

, 2015
The aim of this study was to examine the relationship between pulmonary exacerbations and physical activity (PA) in adults with cystic fibrosis (CF)
Banya, Winston, Bilton, Diana, DI PAOLO, Marcello, Hopkinson, Nicholas S, Palange, Paolo, Quattrucci, Serena, Savi, Daniela, Simmonds, Nicholas   +7 more
core   +2 more sources

Mucus, mucins, and cystic fibrosis

Pediatric Pulmonology, 2019
Cystic fibrosis (CF) is both the most common and most lethal genetic disease in the Caucasian population. CF is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and is characterized by the accumulation of thick ...
Cameron B. Morrison, M. Markovetz, C. Ehre   +2 more
semanticscholar   +1 more source