Results 51 to 60 of about 12,377 (185)

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

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

Alpha-1-antitrypsin deficiency and liver disease.

Acta Médica Portuguesa, 1981
In this review article only the liver disease associated with aipha-1-antitrypsin deficiency will be considered. For the well recognised association with lung disease the review by Mittman is recommended.
G. H. Millward-Sadler
doaj   +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

Why has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesis

Drug Design, Development and Therapy, 2011
Jennifer A Dickens, David A LomasDepartment of Medicine, University of Cambridge, Cambridge Institute for Medical Research, Wellcome Trust/MRC Building, Cambridge, UKAbstract: Alpha-1-antitrypsin is the most abundant circulating protease inhibitor. It is
Dickens JA, Lomas DA
doaj  

Meta‐Analysis: Redefining Liver Disease Risk in Heterozygous Alpha‐1 Antitrypsin Deficiency

Alimentary Pharmacology &Therapeutics, EarlyView.
SERPINA1 MZ/SZ genotypes is a common but under‐recognised liver risk state. Despite modest shifts in liver function tests, it is associated with approximately doubled odds of fibrosis, cirrhosis, and liver transplantation, supporting its inclusion in chronic liver disease risk assessment.
Adam M. Syanda, Dimitra Georgantaki, Riona T. T. Linn, Amara Agbai, Hassan Tahir, Manako Sakai, Richard Thompson, Mariam Molokhia, S. Tamir Rashid   +8 more
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

How I Investigate Bleeding Disorders of Unknown Cause: Current Diagnostic Pathways and Gaps in Laboratory Investigation

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Bleeding disorder of unknown cause (BDUC) constitutes the largest group of patients presenting with a mild‐to‐moderate bleeding tendency in tertiary care settings. Their clinical bleeding phenotype is characterized by mucocutaneous bleeding, as well as bleeding following surgical challenges or childbirth, and is associated with impaired health‐
Dino Mehic, Faris Karaselimovic, Tim Dreier, Johanna Gebhart   +3 more
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

Haemodynamic responses to small muscle mass exercise before and after lung transplantation in end‐stage chronic obstructive pulmonary disease

Experimental Physiology, EarlyView.
Abstract Cardiovascular control during exercise is impaired in chronic obstructive pulmonary disease (COPD). The central cardiopulmonary pathologies in COPD might drive the local muscle vascular abnormalities. We hypothesised that contracting muscle perfusion and O2 utilisation improve after lung transplantation (LTx) in COPD.
Camilla Koch Ryrsø, Thomas Kromann Lund, Pia Thaning, Lasse Gliemann, Michael Perch, Jacob Peter Hartmann, Ida Kær Thorsen, Gregers Winding Munch, Stefan P. Mortensen, Ylva Hellsten, Ronan M. G. Berg, Ulrik Winning Iepsen   +11 more
wiley   +1 more source