Results 71 to 80 of about 1,568 (176)

Identification of SETD4 as an Onco‐Immunological Biomarker Encompassing the Tumor Microenvironment, Prognoses, and Therapeutic Responses in Various Human Cancers

Immunity, Inflammation and Disease, Volume 13, Issue 1, January 2025.
SETD4 holds great potential as a novel therapeutic target for certain malignancies, and the synergistic manipulation of its related pathways along with immunotherapy or chemotherapy may be clinically valuable in cancer treatment. ABSTRACT Background SET domain‐containing protein 4 (SETD4) is a histone methyltransferase that has been shown to modulate ...
Yuyun Zhong, Ruiqi Wang, Zijie Huang, Zhaoting Hu, Bin Peng, Bin Chen, Liyue Sun   +6 more
wiley   +1 more source

RYR 1 Gene Mutation in Motor Neuron Disease: A 10‐Year Case Observation

Case Reports in Neurological Medicine, Volume 2025, Issue 1, 2025.
Motor neuron diseases (MND) are a group of rare, often severe, and life‐limiting progressive neurological disorders that primarily affect motor neurons, resulting in muscle weakness and loss of essential muscle functions. Genetic defects play a significant role in MND, contributing to their pathogenesis and progression.
Andreas Posa, Malte Kornhuber, Dominic B. Fee   +2 more
wiley   +1 more source

Additional file 4 of Glycogen synthase 1 targeting reveals a metabolic vulnerability in triple-negative breast cancer

, 2023
Additional file 4: Figure S2. METABRIC mRNA expression data and patient survival. (a) Spearman correlations among GYS1 mRNA and GYS isoform 2 (GYS2), glycogen branching enzyme 1 (GBE1), glycogen breakdown enzymes glycogen phosphorylase muscle isoform ...
T. van der Sluis (16034539), S. de Jong (11482788), M. C. Zwager (16034536), T. Morita (8358702), H. Sheldon (16034530), E. C. de Heer (16034521), S. Haider (67380), B. van der Vegt (2866916), C. P. Schröder (16034545), C. E. Zois (16034524), W. A. Veldman (16034533), E. Bridges (16034527), O. Baba (16034542), A. L. Harris (7772477), M. Jalving (11482785)   +14 more
core   +1 more source

Osteoarthritis Bone Marrow MSCs Retain Regenerative Competence and Chemokine Responsiveness for Drug‐Based In Situ Tissue Engineering

Stem Cells International, Volume 2025, Issue 1, 2025.
Background Mesenchymal stromal cells (MSCs) support tissue repair in osteoarthritis (OA), with migration to damaged tissue being a key strategy in in situ tissue engineering. Their regenerative potential depends on factors such as differentiation, level of senescence, and responsiveness to signaling molecules.
Julia Sonnleitner, Katja Gulich, Axel Pruss, Carsten Perka, Angelika Gursche, Daniel Kendoff, Michael Sittinger, Shabnam Hemmati-Sadeghi, Tilo Dehne, Yuriy Petrenko   +9 more
wiley   +1 more source

Distinct features in adult polyglucosan body disease : a case series

, 2023
: Adult polyglucosan body disease (APBD) is caused by bi-allelic pathogenic variants in GBE1 and typically shows middle age onset urinary symptoms followed by progressive gait disturbances and possibly cognitive decline.
De Winter, Jonathan, Baets, Jonathan, Bossche, Stephanie Vanden, Cypers, Gert, De Ridder, Willem, Vanden Bossche, Stephanie, Deconinck, Tine, Dekeyzer, Sven, Jacobs, Edwin   +8 more
core   +1 more source

Metabolic engineering of crocins and picrocrocin apocarotenoids in potato group phureja

Engineering Reports, Volume 6, Issue 12, December 2024.
Transgenic line of Potato Group Phureja exhibiting accumulation of saffron‐specific apocarotenoids. Abstract The stigmas of Crocus sativus accumulate the exclusive apocarotenoids crocin and picrocrocin, which are dried and desiccated to make commercial saffron.
Lourdes Gómez‐Gómez, Alberto José López‐Jimenez, Cristian Martinez Fajardo, Lucía Morote, Sarah Frusciante, José Luis Rambla, Gianfranco Diretto, Ángela Rubio‐Moraga, María Mondejar‐López, Enrique Niza, Javier Argandoña, Silvia Presa, Antonio Granell, Oussama Ahrazem   +13 more
wiley   +1 more source

Differential expression of six genes and correlation with fatness traits in a unique broiler population

, 2015
Previous results from genome wide association studies (GWASs) in chickens divergently selected for abdominal fat content of Northeast Agricultural University (NEAUHLF) showed that many single nucleotide polymorphism (SNP) variants were associated with ...
Jin, Pengcheng, Zhang, Hui, Cao, Zhiping, Xu, Songsong, Li, Yumao, Wang, Shouzhi, Li, Hui, Wu, Xianwen   +7 more
core   +1 more source

Characterising the dynamics of placental glycogen stores in the mouse.

, 2020
INTRODUCTION: The placenta performs a range of functions to support fetal growth. In addition to facilitating nutrient transport, the placenta also stores glucose as glycogen, which is thought to maintain fetal glucose supply during late gestation ...

core   +1 more source

Case Report: Integrative Multiomics to Establish Pathogenicity of novel GBE1 R198T Variant

F1000Research
Background Glycogen Storage Disease IV (GSD IV) is a rare disease affecting 1 in every 760,000–960,000 live births. GSD IV is caused by mutations in GBE1 , especially if it affects the central catalytic core domain of the glycogen branching enzyme (GBE) protein at 184 th
Yulia Ariani, Ivan William Harsono, Silvia Tri Widyaningtyas, Cut Nurul Hafifah, Syarifah Dewi, Rina Pratiwi, Beben Benyamin, G Gregory Neely, Dwi Ari Pujianto   +8 more
openaire   +1 more source

Asian Screening Array and Next‐Generation Sequencing Based Panels Applied to Preimplantation Genetic Testing for Monogenic Disorders Preclinical Workup in 294 Families: A Retrospective Analysis

Prenatal Diagnosis, Volume 44, Issue 11, Page 1344-1353, October 2024.
ABSTRACT Objective Currently, the most commonly used methods for linkage analysis of pre‐implantation genetic testing for monogenic disorders (PGT‐M) are next generation sequencing (NGS) and SNP array. We aim to investigate whether the application efficacy of Asian screening array (ASA) in PGT‐M preclinical workup for the Chinese population is superior
Jun Ren, Cuiting Peng, Han Chen, Fan Zhou, Yuezhi Keqie, Yutong Li, Hong Yang, Haixia Zhang, Ze Du, Ting Hu, Xuemei Zhang, Shan Luo, Wei Fan, Yan Wang, He Wang, Xinlian Chen, Shanling Liu   +16 more
wiley   +1 more source