Results 161 to 170 of about 217,160 (266)

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Blood-brain barrier breakdown in brain ischemia: Insights from MRI perfusion imaging. [PDF]

Neurotherapeutics
Sasannia S, Leigh R, Bastani PB, Shin HG, van Zijl P, Knutsson L, Nyquist P.   +6 more
europepmc   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Features of Physical and Psychomotor Development in Children with Brain Ischemia. [PDF]

Med J Islam Repub Iran
O Shoibekova G, N Turbekova M, A Iskakova F, B Altynbayeva G, Ospanova E, S Malgazhdarov M.   +5 more
europepmc   +1 more source

Design and Application of Nanozymes: Current Trends and Cutting‐Edge Breakthroughs

Advanced Science, EarlyView.
Kelong Fan, Hui Wei, Xiyun Yan
wiley   +1 more source

IRF‐1 modulates hepatic ferroptosis and aggravates liver ischemia/reperfusion injury via DYRK1α

Animal Models and Experimental Medicine, EarlyView.
IRF‐1 modulates hepatic ferroptosis and aggravates liver ischemia/reperfusion injury via DYRK1α. Abstract Background The purpose is to define the contribution of the interferon regulatory factor‐1–dual‐specificity tyrosine phosphorylation‐regulated kinase 1α (IRF‐1–DYRK1α) axis to hepatocellular ferroptosis during liver ischemia/reperfusion injury ...
Jinping Zhang, Jinming Zhang, Siyuan Song, Mingyang Li, Liying Sun, Zhijun Zhu, Dongdong Lin   +6 more
wiley   +1 more source

The semi-quantitative cardiac arrest brain ischemia (CABI) score for magnetic resonance imaging predicts functional outcome after cardiac arrest. [PDF]

Crit Care
Arctaedius I, Wassélius J, Lang M, Drake M, Johnsson M, Friberg H, Leithner C, Kenda M, Lybeck A, Moseby-Knappe M.   +9 more
europepmc   +1 more source

Identification of senescence‐related genes in Parkinson's disease reveals candidate therapeutic targets and pathological processes

Animal Models and Experimental Medicine, EarlyView.
At the genomic level, a large number of differentially expressed genes (DEGs) and aging‐related DEGs have been screened. Ten hub genes, such as IFNγ and IRF7, have been identified and shown potential value in the diagnosis of PD, holding promise as novel biomarkers to facilitate early and precise diagnosis.
Haojie Wu, Tingting Liu, Xiangshu Cheng, Jianshe Wei   +3 more
wiley   +1 more source

Effect of clinically uneventful carotid endarterectomy on pentraxin 3 concentration: relationships between cognitive functions, local inflammation, and duration of brain ischemia. [PDF]

Anaesthesiol Intensive Ther
Rękas-Dudziak AR, Rojek J, Blacha A, Pruszynska-Oszmałek E, Kołodziejski P, Matuła P.   +5 more
europepmc   +1 more source

Brain Hypoxia and Ischemia [PDF]

American Journal of Neuroradiology, 2009
openaire   +1 more source