Results 41 to 50 of about 15,514 (222)

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

Distrofia muscular congênita. Parte II: revisão da patogênese e perspectivas terapêuticas [PDF]

, 2009
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and ...
REED, Umbertina Conti
core   +2 more sources

Gorab deficiency in skin dermis accelerates aging and is associated with dysregulation of RCHY1‐mediated P53 ubiquitination

Animal Models and Experimental Medicine, EarlyView.
Based on a dermis fibroblast Gorab knockout mouse model, this study revealed that Gorab deficiency promotes skin aging by influencing RCHY1, causing a decrease in P53 ubiquitination, damaging the activity of HDAC2, further resulting in the accumulation of aging‐related proteins (P53, P21, P16) and a reduction in extracellular matrix (ECM) components ...
Yanhong Li, Wei Liang, Yanfeng Xu, Yunlin Han, Wenjie Zhao, Siyuan Wang, Wei Deng, Chuan Qin   +7 more
wiley   +1 more source

Analysis of congenital disorder of glycosylation-Id in a yeast model system shows diverse site-specific under-glycosylation of glycoproteins [PDF]

, 2012
Asparagine-linked glycosylation is a common post translational modification of proteins in eukaryotes. Mutations in the human ALG3 gene cause changed levels and altered glycan structures on mature glycoproteins and are the cause of a severe congenital ...
Aebi M., Apweiler R., Benjamin L. Schulz, Bova G. S., Breidenbach M. A., Burda P., Chen W., Garshasbi M., Haeuptle M. A., Helenius A., Henquet M., Henquet M., Honma K., Huffaker T. C., Hülsmeier A. J., Izquiedro L., Jamaluddin M. F. B., Janik M. E., Kasturi L., Kelleher D. J., Krokhin O. V., Lizak C., Mohorko E., Molinari F., Muhammad Fairuz Jamaluddin, Nasab F., Palmisano G., Pils D., Robinson N. E., Runge K. W., Sato S., Schulz B. L., Schulz B. L., Schulz B. L., Sun L., Ulla-Maja Bailey, Whitley P., Yin Q. Y., Zhang H.   +38 more
core   +1 more source

Living Microbial Drugs

Chemistry – A European Journal, EarlyView.
The introduction outlines the review scope. Microbial cell factories as living drugs cover host–gut microbiota, bacteria, yeast, and other microbial systems, with comparative host advantages. Engineering strategies include synthetic circuits, quorum sensing, and memory.
Cemile Elif Özçelik, Nazlıcan Tunç, Senem Şen, Urartu Özgür Şafak Şeker   +3 more
wiley   +1 more source

Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models

Cell Reports
Summary: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a rare inborn error of metabolism caused by deficiency of the PMM2 enzyme, which leads to impaired protein glycosylation.
Silvia Radenkovic, Rohit Budhraja, Teun Klein-Gunnewiek, Alexia Tyler King, Tarun N. Bhatia, Anna N. Ligezka, Karen Driesen, Rameen Shah, Bart Ghesquière, Akhilesh Pandey, Nael Nadif Kasri, Steven A. Sloan, Eva Morava, Tamas Kozicz   +13 more
doaj   +1 more source

Differential effects of lobe A and lobe B of the conserved oligomeric golgi complex on the stability of β1,4-galactosyltransferase 1 and α2,6-sialyltransferase 1 [PDF]

, 2010
Erworben im Rahmen der Schweizer Nationallizenzen (http://www.nationallizenzen.ch)Initially described by Jaeken et al. in 1980, congenital disorders of glycosylation (CDG) is a rapidly expanding group of human multisystemic disorders.
Duvet, Sandrine, Foulquier, Francois, Legrand, Dominique, Matthijs, Gert, Mir, Anne-Marie, Peanne, Romain, Rohrer, Jack   +6 more
core   +2 more sources

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source