Results 31 to 40 of about 18,550 (219)

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

Inborn Errors of Fructose Metabolism. What Can We Learn from Them? [PDF]

, 2017
Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited.
Tran, C.
core   +2 more sources

Mapping the Cerebral Organoid Landscape: A Systematic Review of Preclinical 3D Models in Neuroscience

Advanced Healthcare Materials, EarlyView.
Cerebral organoids are transforming brain research, yet the field remains fragmented. This comprehensive systematic review maps 738 studies published between 2014 and 2024 to uncover trends, gaps, and opportunities across neuroscience. Introducing OrganoidMap—an interactive, open‐access platform to explore and compare models—this work enables ...
Anna Wolfram, Vanessa Arnold, Maik Wolfram‐Schauerte, Anastassiya Moskalchuk, Caroline Trust, Marie Vontz, Mona Scheurenbrand, Vijayasarathy Sampath‐Kumar, Sogand Ahari, Carlos Romero‐Nieto, Lisa Sevenich   +10 more
wiley   +1 more source

Selected Abstracts of the 11th International Workshop on Neonatology; Cagliari (Italy); October 26-31, 2015

Journal of Pediatric and Neonatal Individualized Medicine, 2015
Selected Abstracts of the 11th International Workshop on Neonatology • FROM THE WOMB TO THE ADULT • Cagliari (Italy) • October 26th-31st 2015 The Workshop has been organized with the patronage of the Italian Society of Neonatology (SIN), the Italian ...
--- Various Authors
doaj   +1 more source

Selective Targeting of Tip Endothelial Cells as a Therapeutic Strategy for Tumor Angiogenesis

Advanced Science, EarlyView.
Doppel protein is selectively expressed in tip endothelial cells within the tumor vasculature, where it promotes tip cell motility and stabilizes the tip cell phenotype. Targeting Doppel with monoclonal antibodies disrupts this stabilization, impairs angiogenic sprouting, and reduces tumor angiogenesis, offering a selective and druggable switch for ...
Byoungmo Kim, Ha Kyeong Lee, Zulfikar Azam, Jeong Uk Choi, Riajul Wahab, Na Kyeong Lee, Yoon Gun Ko, So‐Young Choi, Se‐Ra Lee, Wan Seob Shim, Taeeung Kim, In‐San Kim, Farzana Alam, Sang Yoon Kim, Seong Who Kim, Youngro Byun, Taslim A Al‐Hilal   +16 more
wiley   +1 more source

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source

Gut–Metabolome–Proteome Interactions in Age‐Related Hearing Loss: Insights from Fecal Microbiota Transplantation and Multi‐Omics Analyses

Advanced Science, EarlyView.
Germ‐free (GF) mice receiving fecal microbiota transplantation (FMT) reveal microbiota‐dependent effects on auditory aging. Integrated metagenomic, metabolomic and proteomic profiling maps gut–inner ear network and highlights 5‐hydroxytryptophan (5‐HTP) as a microbiota‐linked metabolic hub in age‐related hearing loss (ARHL).
Ting Yang, Ziwen Gao, Hui Huang, Chanyuan Zhang, Yiquan Tang, Qianhui Qu, Huabin Li, Jing Ke, Zhiji Chen, Menglong Feng, Hu Zhou, Yilai Shu, Wei Yuan   +12 more
wiley   +1 more source

Dysregulated Choline, Methionine, and Aromatic Amino Acid Metabolism in Patients with Wilson Disease: Exploratory Metabolomic Profiling and Implications for Hepatic and Neurologic Phenotypes. [PDF]

, 2019
Wilson disease (WD) is a genetic copper overload condition characterized by hepatic and neuropsychiatric symptoms with a not well-understood pathogenesis.
Czlonkowska, Anna, Kim, Kyoungmi, Litwin, Tomasz, Mazi, Tagreed A, Medici, Valentina, Sarode, Gaurav V, Shibata, Noreene M   +6 more
core   +2 more sources

Cellular Identity Crisis: RD3 Loss Fuels Plasticity and Immune Silence in Progressive Neuroblastoma

Advanced Science, EarlyView.
Researchers discovered that therapy‐induced loss of RD3 protein in neuroblastoma triggers a dangerous shift: cancer cells become more stem‐like, invasive, and resistant to treatment while evading immune detection. RD3 loss suppresses antigen presentation and boosts immune checkpoints, creating an immune‐silent environment.
Poorvi Subramanian, Sreenidhi Mohanvelu, Sheeja Aravindan, Afsana Parveen Jahir Hussain, Sivasubramani Narayanan, Sabir Salim, Loganayaki Periyasamy, Natarajan Aravindan   +7 more
wiley   +1 more source

A Guide for Spatial Omics Technologies: Innovation, Evaluation, and Application

Advanced Science, EarlyView.
This review presents a strategy‐centric framework for spatial omics technologies, organizing methods by how spatial information is experimentally encoded. It compares key performance trade‐offs across sequencing‐ and imaging‐based approaches, examines computational and practical limitations, and highlights biomedical applications. The analysis provides
Xiaofeng Wu, Weize Xu, Da Lin, Leqiang Sun, Jinxia Dai, Gang Cao   +5 more
wiley   +1 more source