Results 21 to 30 of about 1,570 (145)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Integration of Spatiotemporal Multi‐Omics in Peach Fruit Unravels a Metabolic Niche and the Genetic Basis of Trichome‐Mediated Stress Adaptation

Advanced Science, EarlyView.
This study constructed the first spatiotemporal multi‐omics map of peach fruit and discovered a key candidate gene that synergistically regulates trichome development and drought tolerance through the jasmonic acid signaling pathway, providing insights into the coupling mechanism between development and stress resistance.
Zhixin Liu, Ke Cao, Liping Guan, Aizhi Qin, Yong Li, Zihao Zhao, Yinpeng Zhang, Yaping Zhou, Lirong Wang, Xuwu Sun   +9 more
wiley   +1 more source

CD177 Deficiency Defines a Stable Subtype of Human Neutrophil Granulocytes with Tumor Promoting Activity

Advanced Science, EarlyView.
Human neutrophils exist as two epigenetically imprinted subtypes defined by stable CD177 expression or absence — a ratio that persists across time, circadian rhythms, and inflammation. CD177− neutrophils display a distinct molecular landscape enriched in arginase 1 and lipid metabolism markers, accumulate in head‐and‐neck tumors, and associate with ...
Marcel Jung, Alexander Beer, Susmita Ghosh, Ekaterina Pylaeva, Belal Alshaar, Tobias Tertel, Nils Bastian Leimkühler, Thomas Schroeder, Janine Gronewold, Nina Hagemann, Ayan Mohamud Yusuf, Benedikt Frank, Yiqiao Zhang, Dennis Nagel, Kim Schloeßer, Laura Karsch, Emily Hedtfeld, Sabrina Lohmann, Kathrin Blank, Andreas Kraus, Max Krumbein, Nastassia Kabankova, Hongxiao Wang, Almke Bader, Mathis Richter, Fengjun Zhang, Raphael Chevre, Bernd Giebel, Stephan Lang, Anika Grüneboom, Daniela Maier‐Begandt, Anja Hasenberg, Oliver Soehnlein, Hans Christian Reinhardt, Sven Heiles, Jianxu Chen, Jadwiga Jablonska, Albert Sickmann, Dirk M. Hermann, Matthias Gunzer   +39 more
wiley   +1 more source

Porcine kidney xenotransplantation: From primate models to clinical reality

Animal Models and Experimental Medicine, EarlyView.
In the face of a critical shortage of human donor kidneys for end‐stage renal disease patients, porcine kidney xenotransplantation has emerged as a viable solution. This field has navigated major hurdles, including immune rejection, physiological incompatibilities, potential biomechanical differences and the risk of cross‐species infection. To overcome
Zihang Guo, Ling Zhang, Shoulong Deng, Chuan Qin   +3 more
wiley   +1 more source

Genetic Determinants of Treatment‐Related Bone Toxicity in Pediatric Acute Lymphoblastic Leukemia

Clinical Pharmacology &Therapeutics, EarlyView.
Osteonecrosis and fractures are serious corticosteroid‐induced bone toxicities in children treated for acute lymphoblastic leukemia, yet their genetic determinants remain incompletely defined. In this study, we aimed to identify novel genetic contributors to bone toxicity and to evaluate the robustness of both newly identified and previously ...
Rachid Abaji, Vincent Gagné, Émilie Espagne, Nathalie Alos, Veronica Del Vecchio, Lamia Ait Said, Albert Shalmiev, Claire Fuchs, Caroline Laverdière, Jean‐Marie Leclerc, Stephen E. Sallan, Lewis B. Silverman, Daniel Sinnett, Thai Hoa Tran, Maja Krajinovic   +14 more
wiley   +1 more source

Fast sleep spindles as a potential prognostic marker of developmental outcome in infantile epileptic spasms syndrome

Epilepsia Open, EarlyView.
Abstract Objective The presence or absence of sleep spindles in patients with infantile epileptic spasms syndrome (IESS) has been proposed as a potential predictor of cognitive outcome; however, the validity of this predictor remains uncertain.
Kento Ohta, Thomas Reuben, Tohru Okanishi, Go Yoshino, Tatsuo Hosoda, Kentaro Okada, Yoshihiro Maegaki   +6 more
wiley   +1 more source

Biosynthesis and deficiencies of glycosylphosphatidylinositol

Proceedings of the Japan Academy, Series B, 2014
At least 150 different human proteins are anchored to the outer leaflet of the plasma membrane via glycosylphosphatidylinositol (GPI). GPI preassembled in the endoplasmic reticulum is attached to the protein's carboxyl-terminus as a post-translational modification by GPI transamidase. Twenty-two PIG (for Phosphatidyl Inositol Glycan) genes are involved
openaire   +3 more sources

N-acetylglucosamine supplementation fails to bypass the critical acetylation of glucosamine-6-phosphate required for Toxoplasma gondii replication and invasion.

PLoS Pathogens
The cell surface of Toxoplasma gondii is rich in glycoconjugates which hold diverse and vital functions in the lytic cycle of this obligate intracellular parasite.
María Pía Alberione, Víctor González-Ruiz, Olivier von Rohr, Serge Rudaz, Dominique Soldati-Favre, Luis Izquierdo, Joachim Kloehn   +6 more
doaj   +1 more source

The GPI sidechain of Toxoplasma gondii inhibits parasite pathogenesis

mBio
Glycosylphosphatidylinositols (GPIs) are highly conserved anchors for eukaryotic cell surface proteins. The apicomplexan parasite, Toxoplasma gondii, is a widespread intracellular parasite of warm-blooded animals whose plasma membrane is covered with GPI-
Julia A. Alvarez, Elisabet Gas-Pascual, Sahil Malhi, Juan C. Sánchez-Arcila, Ferdinand Ngale Njume, Hanke van der Wel, Yanlin Zhao, Laura García-López, Gabriella Ceron, Jasmine Posada, Scott P. Souza, George S. Yap, Christopher M. West, Kirk D. C. Jensen   +13 more
doaj   +1 more source

Analysis of the Recovery of Immune Status in the Patients With Paroxysmal Nocturnal Hemoglobinuria After Treatment With C5 Complement Inhibitor

Journal of Clinical Laboratory Analysis, EarlyView.
We retrospectively evaluated the impact of C5 complement inhibition on immune cell profiles and recovery in 27 PNH patients; both CD4+ and CD8+ T cells exhibited partial recovery, while B cell counts increased but remained below normal levels. In contrast, Treg cells were significantly reduced in PNH patients and showed no notable change post‐treatment.
Hui Liu, Mengting Che, Liyan Li, Honglei Wang, Chaomeng Wang, Junshu Wu, Yingying Chen, Zhaoyun Liu, Lijuan Li, Rong Fu   +9 more
wiley   +1 more source