Results 101 to 110 of about 107,093 (255)

Modeling Hereditary Angioedema With Personalized EPSC‐Derived Hepatocytes: A CRISPR‐Validated Platform for Mutation‐Specific Mechanisms and Therapeutic Innovation

Allergy, EarlyView.
Patient‐derived expanded potential stem cell (EPSC) hepatocytes reveal that pathogenic SERPING1 variants cause distinct cellular defects in hereditary angioedema. While most mutations reduce SERPING1 transcription and C1‐INH secretion, a large deletion induces intracellular C1‐INH retention.
Xueyan Liu, Yuxin Wang, Jane C. Y. Wong, Xiang Zhang, Cuixi Wu, Pengyu Chen, Yunzhi Yang, Pentao Liu, Chak Sing Lau, Matthew Cook, Philip Hei Li   +10 more
wiley   +1 more source

Alpha-1 antitrypsin deficiency: outstanding questions and future directions

Orphanet Journal of Rare Diseases, 2018
BackgroundAlpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease in children and adults, in which ...
M. Torres-Durán, J. López-Campos, M. Barrecheguren, M. Miravitlles, B. Martínez-Delgado, Silvia Castillo, A. Escribano, A. Baloira, María Mercedes Navarro-García, D. Pellicer, Lucía Bañuls, María Magallón, F. Casas, F. Dasí   +13 more
semanticscholar   +1 more source

Alpha-1-Antitrypsin Deficiency and Bronchiectasis: A Concomitance or a Real Association?

International Journal of Environmental Research and Public Health, 2020
Alpha-1-antitrypsin deficiency (AATd) is a hereditary disease, mainly characterized by early onset and the lower lobes’ predominant emphysema. Bronchiectasis is characterized by dilatation of the bronchial wall and a clinical syndrome whose features are ...
A. Sanduzzi, Emanuele Ciasullo, L. Capitelli, Stefano Sanduzzi Zamparelli, M. Bocchino   +4 more
semanticscholar   +1 more source

A Spotlight on Yolk‐sac Tumors: Molecular Pathology, Current Diagnostics, and Novel Therapeutics

Andrology, EarlyView.
ABSTRACT Background Yolk‐sac tumors are an aggressive subtype of testicular cancer that significantly contribute to disease progression and therapy resistance, especially in adults. While testicular cancer generally has high cure rates with cisplatin‐based treatment, adult yolk‐sac tumors often appear as components of mixed tumors with poor response to
Evangelos Prokakis, Lisa Schneider, Felix Bremmer, Daniel Nettersheim   +3 more
wiley   +1 more source

Narrative Review on Therapies That Influence Inflammatory Responses During Extremely Premature Perinatal Respiratory Transition

Acta Paediatrica, EarlyView.
ABSTRACT Aims and Methods Advances in neonatal care have extended borderline survival to 22–24 post‐conceptional weeks. Present review discusses approaches for prolonging short pregnancies and prevention of serious morbidities in extremely premature infants born before 28 weeks of pregnancy.
Mikko Hallman
wiley   +1 more source

Molecular dynamics simulations elucidate the misfolding mechanisms of secretion‐defective pancreatic lipase variants

The FEBS Journal, EarlyView.
Misfolding mutations in pancreatic lipase have been identified as potential contributors of chronic pancreatitis, an inflammatory disease of the human pancreas. Here, we describe the effect of these misfolding mutations on pancreatic lipase structure using molecular dynamics simulations and structural modeling.
Gyula Hoffka, András Szabó
wiley   +1 more source

AI‐Assisted Literature Mining Reveals Spatiotemporal Heterogeneity and Progression Trajectories of Traditional Chinese Medicine Syndromes in Coronary Heart Disease in China

Journal of Evidence-Based Medicine, EarlyView.
ABSTRACT Despite the centrality of syndrome differentiation in guiding personalized traditional Chinese medicine (TCM) interventions for coronary heart disease (CHD), existing studies of TCM syndrome distribution are constrained by fragmented methodologies and limited spatiotemporal resolution. In this study, we employed an artificial intelligence (AI)‐
Qianzi Che, Tian Song, Zhaoyuan Gong, Chuxuan Wang, Bin Liu, Mingzhi Hu, Ning Liang, Haili Zhang, Huizhen Li, Qingyang Zeng, Lin Chen, Yuanming Leng, Xihao Cao, Jing Wan, Jing Guo, Nannan Shi   +15 more
wiley   +1 more source

Alpha-1 antitrypsin deficiency: an update on clinical aspects of diagnosis and management

Faculty Reviews, 2020
Clinical heterogeneity has been demonstrated in alpha-1 antitrypsin deficiency (AATD), such that clinical suspicion plays an important role in its diagnosis.
Gabriela F Santos, A. Turner
semanticscholar   +1 more source

Potential health benefits of cold‐water immersion: the central role of PGC‐1α

The Journal of Physiology, EarlyView.
Abstract figure legend Cold‐water immersion (CWI) elicits autonomic, somato‐motoric (shivering thermogenesis), endocrine and metabolic, sensory transduction, and local biophysical effects that may converge on the transcriptional co‐activator PGC‐1α (centre).
Erich Hohenauer, Wafa Douzi, Johannes Burtscher   +2 more
wiley   +1 more source

Exacerbations of Lung Disease in Alpha-1 Antitrypsin Deficiency.

Chronic obstructive pulmonary diseases, 2020
Alpha-1 antitrypsin deficiency (AATD) is an important risk factor for development of chronic obstructive pulmonary disease (COPD). Patients with AATD classically develop a different pattern of lung disease from those with usual COPD, decline faster and ...
Daniel J. Smith, P. Ellis, A. Turner
semanticscholar   +1 more source