Results 201 to 210 of about 554,004 (364)

Effects of IGFBP4 deficiency on human preadipocyte proliferation and differentiation through the IGF1R/AKT pathway

FEBS Open Bio, EarlyView.
IGFBP4 knockdown (KD) impairs preadipocyte proliferation and is associated with IGF1R protein downregulation and attenuated AKT phosphorylation. The mechanisms by which IGFBP4 KD influences the IGF1R/AKT signaling pathway involve newly synthesized proteins and lysosomal degradation pathways. Created in BioRender.
Yujia Guo, Sandy Richter, Christoph Bach, Wieland Kiess, Anna Kirstein, Diana Le Duc, Antje Garten   +6 more
wiley   +1 more source

Striatal hyperechogenicity as an ultrasound imaging marker for prodromal X-linked dystonia-parkinsonism. [PDF]

NPJ Parkinsons Dis
Pauly MG, Diesta CCE, Cataniag P, Borsche M, Hanssen H, Oropilla JQL, Walter U, Dressler D, Algodon SM, Westenberger A, Klein C, Brüggemann N.   +11 more
europepmc   +1 more source

From energy provision to protein synthesis: Tunnelling nanotubes as mediators of intercellular metabolic cooperation in cancer

FEBS Open Bio, EarlyView.
The cytoskeleton‐mediated transport of mitochondria via tunnelling nanotubes restores respiration, increases ATP production, rescues cells from apoptosis, activates the AKT/mTOR signalling pathway, promotes cell migration and invasiveness, contributes to cancer progression and treatment resistance.
Stanislava Martínková, Jan Trnka
wiley   +1 more source

The impact of X chromosome inactivation on human health. [PDF]

Front Genet
Gu J, Chen Q.
europepmc   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

Optimising POU3F4 variant interpretation through gene-specific evidence in X-linked hearing loss. [PDF]

EBioMedicine
Geng J, Zhao Y, Huang Y, Xiong W, Zhong M, Wang C, Wang X, Zhang Q, Tang T, Chen M, Fang L, Yang Y, Bu F, Cheng J, Lu Y, Yuan H.   +15 more
europepmc   +1 more source

Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms.

Human Molecular Genetics, 2005
P. Ferreira
semanticscholar   +1 more source

Clinical Spectrum and Outcomes of SOX1 Antibody‐Associated Paraneoplastic Neurological Syndromes: A Chinese Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye, Zu‐Ying Kuang, Bo Li, Meng‐Qiu Pan, Li‐Hua Zhou, Yang‐Yang Dai, Si‐Fen Xie, Xian‐Guang Lin, Ye‐Peng Hu, Li‐Hong Jiang, Zhan‐Hang Wang, Wei‐Jing Zhang   +11 more
wiley   +1 more source

Precision Medicine in Inherited Retinal Disease: Advances, Challenges, and Future Directions. [PDF]

J Pers Med
Dhivagaran T, Butt FR, Grover K, Devgan K, Sachdeva K, Dhivagaran V, Abid F, Tao BK, Balas M, Dimopoulos I, Bhatti A.   +10 more
europepmc   +1 more source

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang, Yixiu Pei, Xiaobao Hu, Ying Xiong, Fang Wang, Yanyan Yu, Min Zhu, Dandan Tan, Meihong Zhou, Daojun Hong, Fuqing Zhou   +10 more
wiley   +1 more source