Results 211 to 220 of about 2,688,249 (266)

Novel CTSA Variant Identified in a Thai Family With Late‐Infantile Galactosialidosis

Annals of Human Genetics, Volume 89, Issue 2-3, Page 126-131, May 2025.
ABSTRACT Galactosialidosis (GS) is a rare lysosomal storage disease (LSD) with variable onset caused by a defect in protective protein/cathepsin A (PPCA) encoded by the CTSA gene. The late‐infantile onset is characterized by developmental delay, visceromegaly, coarse facies, and cherry‐red macula.
Lukana Ngiwsara, Dhachdanai Dhachpramuk, Phannee Sawangareetrakul, Sherry Vongphit, Punchama Pacharn, Jisnuson Svasti, Nithiwat Vatanavicharn   +6 more
wiley   +1 more source

Bridging the gap: neurodevelopmental disorder risks in inborn errors of immunity. [PDF]

Curr Opin Allergy Clin Immunol
Kurup D, FitzPatrick AM, Badura A, Serra I.   +3 more
europepmc   +1 more source

Endothelial damage and complement dysregulation in fetuses from pregnancies complicated by preeclampsia

Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 5, Page 829-838, May 2025.
Preeclampsia fetuses show an altered profile of endothelial damage and complement biomarkers, like increased adhesion molecules, prothrombotic state, oxidative stress, and reduced complement membrane attack complex deposition on endothelial cells. Abstract Introduction Our objective was to evaluate the endothelial function profile and complement system
Alex Ramos, Lina Youssef, Patricia Molina, Julia Martinez‐Sanchez, Ana Belen Moreno‐Castaño, Miquel Blasco, Blanca De Moner, Marta Tortajada, Marta Camacho, Maria Borrell, Francesca Crovetto, Marc Pino, Gines Escolar, Enric Carreras, Eduard Gratacos, Maribel Diaz‐Ricart, Marta Palomo, Fatima Crispi   +17 more
wiley   +1 more source

Relation between dysbiosis and inborn errors of immunity.

World J Methodol
Özdemir Ö.
europepmc   +1 more source

Inborn errors of immunity-related immunological mechanisms and pharmacological therapy alternatives in periodontitis. [PDF]

Clin Exp Immunol
Nabiyeva Çevik N, Berker E, Tezcan I, Cagdas D.   +3 more
europepmc   +1 more source

Advancing Precision Medicine: Recent Innovations in Gene Editing Technologies

Advanced Science, Volume 12, Issue 14, April 10, 2025.
This review article delves into the cutting‐edge advancements in gene editing technology, with a particular focus on prime editor proteins and their engineered variants. The authors provide a thorough examination of recent developments that have addressed key challenges in the field, including improved precision, enhanced editing efficiency, and ...
Abhijith Koodamvetty, Saravanabhavan Thangavel   +1 more
wiley   +1 more source

A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity. [PDF]

J Clin Immunol
Shibata H, Nakajima D, Konno R, Hijikata A, Higashiguchi M, Nihira H, Shimodera S, Miyamoto T, Nishitani-Isa M, Hiejima E, Izawa K, Takita J, Heike T, Okamura K, Ohnishi H, Ishimura M, Okada S, Yamashita M, Morio T, Kanegane H, Imai K, Nakamura Y, Nonoyama S, Uchiyama T, Onodera M, Nishikomori R, Ohara O, Kawashima Y, Yasumi T.   +28 more
europepmc   +1 more source

Metabolomics and Microbiomics Perspectives Reveal the Regulatory Pathways of Monaphilone B Derived From Red Yeast Rice on Alcoholic Liver Injury in Mice

eFood, Volume 6, Issue 2, April 2025.
Monaphilone B (MB) from red yeast rice mitigates alcoholic liver injury through the regulation of the gut microbiome, liver metabolism, lipid metabolism, and oxidative defense. ABSTRACT Red yeast rice (RYR) has been extensively used as a natural food for thousands of years and still plays an important role in the world food industry. In this study, the
Li Wu, Zihua Liang, Ziyi Yang, Hao Wang, Li Ni, Weiling Guo, Xucong Lv   +6 more
wiley   +1 more source

Subtyping Burkitt Lymphoma by DNA Methylation

Genes, Chromosomes and Cancer, Volume 64, Issue 4, April 2025.
ABSTRACT Burkitt lymphoma (BL) is an aggressive germinal center B‐cell‐derived malignancy. Historically, sporadic, endemic, and immunodeficiency‐associated variants were distinguished, which differ in the frequency of Epstein–Barr virus (EBV) positivity. Aiming to identify subgroups based on DNA methylation patterns, we here profiled 96 BL cases, 17 BL
Selina Glaser, Rabea Wagener, Helene Kretzmer, Cristina López, Maria Joao Baptista, Susanne Bens, Stephan Bernhart, Kishor Bhatia, Arndt Borkhardt, Shaymaa Elgaafary, Steve Hoffmann, Daniel Hübschmann, Michael Hummel, Wolfram Klapper, Julia Kolarova, Markus Kreuz, Stefano Lazzi, Markus Löffler, Jose Tomas Navarro, Janet Neequaye, Noel Onyango, Timothy Onyuma, German Ott, Bernhard Radlwimmer, Marius Rohde, Andreas Rosenwald, Maciej Rosolowski, Matthias Schlesner, Monika Szczepanowski, Gustavo Tapia, Wilhelm Wößmann, Ralf Küppers, Lorenz Trümper, Lorenzo Leoncini, Peter Lichter, Coral del Val, Ole Ammerpohl, Birgit Burkhardt, Sam M. Mbulaiteye, Reiner Siebert, ICGC MMML‐Seq Consortium; MMML Project   +40 more
wiley   +1 more source

Relevance of Recent Thymic Emigrants Following Allogeneic Hematopoietic Cell Transplantation for Pediatric Patients with Inborn Errors of Immunity. [PDF]

Transplant Cell Ther
Drozdov D, Luo X, Marsh RA, Abraham RS, Ebens CL.   +4 more
europepmc   +1 more source