Results 151 to 160 of about 447,569 (400)

A cancer-associated fibroblasts related risk score (CAFscore) helps to guide prognosis and personal treatment for Glioblastoma

Discover Oncology
Background Recent studies have identified the presence of cancer-associated fibroblasts (CAFs) within glioblastoma (GBM), yet their biological roles and underlying mechanisms remain poorly understood.
Lili Wu, Qinjian Liu, Guoyin Li, Weidong Shi, Weifeng Peng   +4 more
doaj   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Cognitive and behavioural outcomes: are they impaired in children without cerebral palsy following neonatal hypoxic‐ischaemic encephalopathy? [PDF]

, 2019
Ela Chakkarapani
openalex   +1 more source

The Molecular Pathology of Prion Diseases [PDF]

, 2004
Prion diseases, or transmissible spongiform encephalopathies (TSEs), are a group of invariably fatal neurodegenerative disorders. Uniquely, they may present as sporadic, inherited, or infectious forms, all of which involve conversion of the normal ...
Herms, Jochen, Kretzschmar, Hans A., Vassallo, Neville   +2 more
core  

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Hepatolenticular degeneration-induced hepatic dysfunction with extremely atypical clinical manifestations: a Case Report

Frontiers in Medicine
Hepatolenticular Degeneration (HLD) is a rare condition caused by a genetic copper metabolism disorder and a basal ganglia-dominated degenerative brain disease. Its characteristic clinical features include progressive extrapyramidal symptoms, psychiatric
Zhuang Tao, Jiafeng Zhou, Zhenzhen Jiang, Ya Hu, Shupei Jia, Meixia Wang   +5 more
doaj   +1 more source

AB1095 POSTERIOR REVERSIBLE ENCEPHALOPATHY SYNDROME IN A PATIENT WITH SYSTEMIC LUPUS ERYTHEMATOSUS AFTER COVID-19 VACCINATION: A CASE REPORT [PDF]

, 2022
D. Abdel Mohsen, Rahma A. Elziaty, Ahmed Abdallah Abdalkader   +2 more
openalex   +1 more source

Wernicke’s encephalopathy

Revista Clínica Española (English Edition), 2020
Rosales-Castillo, Antonio, Barrero Hernández, Francisco Javier   +1 more
openaire   +3 more sources

Optimizing the dengue virus infection mouse model: Comparing different backgrounds and infection route for enhanced stability

Animal Models and Experimental Medicine, EarlyView.
Optimized dengue fever animal model: IFNAR−/− BALB/c mice with intraperitoneal injection. Background screening: Between IFNAR−/− (BALB/c, C57BL/6) and AG129 mice, IFNAR−/−BALB/c exhibited the most severe symptoms: (1) highest weight loss and clinical scores; (2) peak viremia (5.44 log10 RNA copies/mL, day 4); (3) significant organ damage (liver/brain ...
Dan Liao, Ming Zhong, Wenjiang Zheng, Zhendong Guo, Ye Zhou, Qiuhong Li, Lijuan Qiu, Liangwen Yu, Haishan Long, Geng Li   +9 more
wiley   +1 more source

Anesthetic Management of a Child with Mitochondrial Neurogastrointestinal Encephalopathy [PDF]

, 2015
Vianey Q. Casarez, Acsa Zavala, Pascal Owusu‐Agyemang, Katherine Hagan   +3 more
openalex   +1 more source