Results 131 to 140 of about 68,267 (269)

Genome-Wide Association Studies in Myocardial Infarction and Coronary Artery Disease

Journal of Tehran University Heart Center, 2010
Myocardial infarction (MI) and its major determinant, coronary artery disease (CAD), are complex diseases arising from the interaction between several genetic and environmental factors.
Pier Mannucci, Luca Lotta, Flora Peyvandi   +2 more
doaj  

Overview of Patients with Hemophilia in China: Demographics, Diseases, Treatment, and Health Status

Patient Preference and Adherence
Luying Zhang,1,* Peng Zhang,2,* Wen Chen1 1School of Public Health, Fudan University, Shanghai, 200032, People’s Republic of China; 2School of Humanities, Shanghai Institute of Technology, Shanghai, 201418, People’s Republic of China*These ...
Zhang L, Zhang P, Chen W
doaj  

Lipid Nanoparticles for the Delivery of CRISPR/Cas9 Machinery to Enable Site‐Specific Integration of CFTR and Mutation‐Agnostic Disease Rescue

Advanced Functional Materials, Volume 36, Issue 36, 4 May 2026.
Lipid nanoparticles (LNPs) are optimized to co‐deliver Cas9‐encoding messenger RNA (mRNA), a single guide RNA (sgRNA) targeting the endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene, and homologous linear double‐stranded donor DNA (ldsDNA) templates encoding CFTR.
Ruth A. Foley, Paul G. Ayoub, Vrishti Sinha, Colin Juett, Alicia Sanoyca, Emily C. Duggan, Lindsay E. Lathrop, Priyanka Bhatt, Kevin Coote, Beate Illek, Brigitte N. Gomperts, Donald B. Kohn, Steven J. Jonas   +12 more
wiley   +1 more source

Second‐Look Arthroscopy Revealing Cartilage Coverage Following Arthroscopic Synovectomy in Severe Hemophilic Arthropathy of the Knee: A Case Report

Clinical Case Reports, Volume 14, Issue 5, May 2026.
Arthroscopic findings during the initial surgery in a patient with advanced hemophilic knee arthropathy. Villous synovial proliferation with hemosiderin deposition and exposed subchondral bone were observed, along with pinpoint bleeding on the lateral tibial plateau. Synovectomy resulted in marked reduction of synovial tissue.
Takeshi Seki, Toshiyuki Tateiwa, Yushi Chikasawa, Tsunehito Ishida, Kagehiro Amano, Ei Kinai, Yuichi Shibairi, Ryui Miyashita, Takahiko Okuda, Mitsutaka Hoshi, Toshitaka Nagao, Jun Matsubayashi, Takahisa Haraguchi, Kengo Yamamoto   +13 more
wiley   +1 more source

Fitusiran treatment modulates the ratio between alpha‐ and beta‐antithrombin isoforms

HemaSphere, Volume 10, Issue 5, May 2026.
Abstract Antithrombin (AT) circulates as two distinct isoforms, alpha‐ and beta‐AT, which differ in their glycosylation profiles; alpha‐AT is fully glycosylated at positions Asn128, Asn167, Asn187, and Asn224, whereas beta‐AT lacks Asn167 glycosylation.
Geneviève McCluskey, Hortense Maynadié, Delphine Borgel, Laurent Frenzel, Annie Harroche, Elsa Bianchini, Stephanie Roullet, Olivier D. Christophe, Cecile V. Denis, Caterina Casari, Peter J. Lenting   +10 more
wiley   +1 more source

Hemophilia and hereditary angioedema: parallel therapeutic advances in genetic diseases of serine protease pathways. [PDF]

Res Pract Thromb Haemost
Cugno M, Mannucci PM.
europepmc   +1 more source

Subgaleal Haematoma—A Rare Cause of Head Swelling in a School‐Aged Girl

Journal of Paediatrics and Child Health, EarlyView.
Patrick J. B. Walker, Jim J. Goutzamanis
wiley   +1 more source

Epidemiology, Risk Factors and Pathophysiology of Primary Sclerosing Cholangitis in Inflammatory Bowel Disease: An Update

JCC Plus, Volume 1, Issue 3, May 2026.
ABSTRACT Background and Aims Primary sclerosing cholangitis (PSC) and inflammatory bowel disease (IBD) represent a unique clinical syndrome affecting up to 80% of PSC patients, characterised by distinct epidemiological patterns, pathophysiological mechanisms and clinical outcomes that differ substantially from either condition occurring independently ...
Luisa Bertin, Paul Henderson, Richard Pollok, Natália Queiroz, Luca Fabris, Edoardo Vincenzo Savarino, Iago Rodríguez‐Lago, Brigida Barberio   +7 more
wiley   +1 more source

Hemophilia's Overlooked Female Face. [PDF]

J Clin Med
Adramerina A, Economou M.
europepmc   +1 more source

Liver Gene Therapy in Fabry Disease Mice With Low Doses of rAAV2/8 Expressing a Codon‐Optimized hGLA cDNA Results in Long‐Term Disease Correction

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
AAV‐mediated gene therapy targets the liver to produce and secrete into circulation functional α‐Gal A, which is taken up by tissues to reduce glycosphingolipid accumulation and prevent disease progression in juvenile Fabry mice, even at low AAV doses. ABSTRACT Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA ...
Himanshi Saxena, Rossana Domenis, Giulia Romano, Jessica Biasizzo, Martina Ferro, Dania Ferino, Antonio Vicidomini, Alessandra Iaconcig, Giulia Bortolussi, Lorena Zentilin, Andrea Dardis, Andrés F. Muro   +11 more
wiley   +1 more source