Results 211 to 220 of about 4,846,243 (320)

The association between inborn errors of immunity and Hodgkin lymphoma-A register-based case-control study in Sweden. [PDF]

Br J Haematol
Winsa A, Lagerlöf I, Ellin F, Fredriksson M, Nilsdotter-Augustinsson Å, Bendtsen M, Cammenga J, Nyström S.   +7 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Developing a strain‐dependent susceptibility to hepatocellular carcinoma in a murine model based on histopathological evidence and genetic context

Animal Models and Experimental Medicine, EarlyView.
Using F1 (C57BL/6J/Smad4+/− X CC) mice, we found that partial loss of Smad4 promotes liver carcinogenesis in a strain‐dependent manner, highlighting the importance of genetic modifiers in tumor susceptibility. The use of Collaborative Cross mice provides a valuable platform for uncovering genotype‐specific cancer susceptibilities in preclinical ...
Osayd Zohud, Aysar Nashef, Imad Abu‐Elnaaj, Fuad A. Iraqi   +3 more
wiley   +1 more source

Genetic and autoimmune predispositions to fulminant viral hepatitis in children. [PDF]

Front Immunol
Bousfiha M, Ben Sabbahia D, Jouanguy E, Casanova JL, El Bakkouri J, Bousfiha AA, Amenzoui N.   +6 more
europepmc   +1 more source

Baihe Zhimu Decoction ameliorates anxious depression via PI3K/AKT/mTOR pathway‐mediated neuroprotection and inhibition of hippocampal neuronal apoptosis

Animal Models and Experimental Medicine, EarlyView.
Baihe Zhimu Decoction alleviates anxious depression‐like behaviors and protects hippocampal neurons. Chemical profiling and network pharmacology reveal multiple active components acting via the PI3K/AKT/mTOR pathway, enhancing neuronal survival and function, as confirmed by multi‐level in vitro and in vivo validation.
Yuanshan Han, Kexin He, Haolan Yang, Jiacheng Dai, Ronglin Chen, Yang Liu, Yuhong Wang, Lin Tang, Hongqing Zhao   +8 more
wiley   +1 more source

Gastroenterological disorders in inborn errors of immunity. Part 2B. Overview of selected diseases. [PDF]

Prz Gastroenterol
Napiórkowska-Baran K, Treichel P, Koperska K, Kudrej O, Mućka N, Rajewska A, Wawrzeńczyk A, Bartuzi Z.   +7 more
europepmc   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Management change following NGS diagnosis of inborn errors of immunity: The Australasian experience. [PDF]

J Hum Immun
Swamy S, Shadur B, Hu H, Preece K, Hsiao KC, Blincoe A, King J, Moseley N, McLean-Tooke A, Sullivan A, McNaughton P, Pinzon-Charry A, Machado Melo M, Kane A, Berglund LJ, Suan D, Masters SL, Voskoboinik I, Okada S, Ma CS, Goodnow CC, Hsu P, Bosi I, Urriola N, Stoyanov A, Lin MW, Sinclair J, Brothers S, Cole T, Smart JM, Mehr S, Richards S, Taranto M, Wainstein B, Frith K, Gray PE, Tangye SG.   +36 more
europepmc   +1 more source

Comparative Analysis of Poly(Ethylene Glycol) (PEG) and Poly(2‐Ethyl‐2‐Oxazoline) (PEtOx) for Organic Solvent‐Free Lipid Nanoparticle Formulations

Angewandte Chemie International Edition, EarlyView.
Organic solvent‐free lipid nanoparticles featuring PEtOx‐based stealth lipids enable efficient mRNA and CRISPR‐Cas9 delivery while exhibiting markedly improved biocompatibility compared with PEG‐based analogues. Their successful ex vivo and in vivo performance, combined with data‐driven formulation optimization, establishes a versatile platform that ...
Michael Streiber, Caroline T. Holick, Lucas Gath, Ekaterina Tsarenko, Vivien Bachmann, Stavroula Litsiou, Lukas Harder, Laura J. Rosenberger, Aleksandar Rusevski, Julian Kimmig, Stephan Culemann, Christian Franke, Claudia Waskow, Stephanie Hoeppener, Stephanie Schubert, Matthias Bros, Oliver Werz, Ivo Nischang, Michael Bauer, Adrian T. Press, Ulrich S. Schubert, Anja Traeger   +21 more
wiley   +1 more source

Human inborn errors of the phagocyte respiratory burst: Chronic granulomatous disease and beyond. [PDF]

J Hum Immun
Neehus AL, Sankaran VG, Casanova JL, Bustamante J.   +3 more
europepmc   +1 more source