Results 31 to 40 of about 18,606 (197)

Integrative miRNOMe profiling reveals the miR‐195‐5p–CHEK1 axis and its impact on luminal breast cancer outcomes

open access: yesMolecular Oncology, EarlyView.
In luminal (ER+) breast carcinoma (BC), miRNA profiling identified miR‐195‐5p as a key regulator of proliferation that targets CHEK1, CDC25A, and CCNE1. High CHEK1 expression correlates with worse relapse‐free survival after chemotherapy, especially in patients with luminal A subtype.
Veronika Boušková   +14 more
wiley   +1 more source

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach   +11 more
wiley   +1 more source

NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang   +7 more
wiley   +1 more source

GJA4/Connexin 37 Mutations Correlate with Secondary Lymphedema Following Surgery in Breast Cancer Patients

open access: yesBiomedicines, 2018
Lymphedema is a condition resulting from mutations in various genes essential for lymphatic development and function, which leads to obstruction of the lymphatic system.
M. Hadizadeh   +10 more
semanticscholar   +1 more source

GDC: Integration of Multi‐Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss

open access: yesAdvanced Science, EarlyView.
Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng   +11 more
wiley   +1 more source

MicroRNAs 10a and 10b Regulate the Expression of Human Platelet Glycoprotein Ibα for Normal Megakaryopoiesis

open access: yesInternational Journal of Molecular Sciences, 2016
MicroRNAs are a class of small non-coding RNAs that bind to the three prime untranslated region (3′-UTR) of target mRNAs. They cause a cleavage or an inhibition of the translation of target mRNAs, thus regulating gene expression.
Zuping Zhang   +3 more
semanticscholar   +1 more source

Cryptic Splicing of GAP43 mRNA is a Novel Hallmark of TDP‐43‐Associated ALS and AD

open access: yesAdvanced Science, EarlyView.
TDP‐43 dysfunction disrupts RNA processing, inducing cryptic exon 4a1 inclusion in GAP43 and reducing its protein levels. This aberrant splicing impairs axonal regeneration and contributes to neurodegeneration in ALS and AD. RNA‐seq of patient brains reveals GAP43 downregulation and 4a1 upregulation, identifying cryptic exon 4a1 as a potential ...
Mingming Yang   +9 more
wiley   +1 more source

LincNEAT1 Encoded‐NEAT1‐31 Promotes Phagocytosis by Directly Activating the Aurora‐A–PI3K–AKT Pathway

open access: yesAdvanced Science, EarlyView.
LincNEAT1 Encoded‐NEAT1‐31 micropeptide directly binds with Aurora‐A and enhanced AKT pathways to pormotes phagocytosis against multi cancer cells. Abstract Macrophages play vital roles in innate and adaptive immunity, and their essential functions are mediated by phagocytosis and antigen presentation.
Jie Li   +8 more
wiley   +1 more source

A single nucleotide polymorphism in the 3′-UTR of STAT3 regulates its expression and reduces risk of pancreatic cancer in a Chinese population

open access: yesOncoTarget, 2016
Pancreatic cancer (PC) is one of the deadliest solid malignancies carrying a gloomy 5-year survival rate less than 5%. The signal transducer and activator of transcription 3 (STAT3) is a common transcriptional regulator, whose aberrant expression has ...
Bei-bei Zhu   +15 more
semanticscholar   +1 more source

Listerin Alleviates Alzheimer's Disease through IRE1‐mediated Decay of TLR4 mRNA

open access: yesAdvanced Science, EarlyView.
Alzheimer's disease (AD) progression is influenced by microglia‐mediated neuroinflammation. Here, it is demonstrated that Listerin suppresses neuroinflammatory signaling and cognitive impairment in AD models by triggering IRE1α‐mediated TLR4 mRNA decay. Adenoviral Listerin delivery reduces amyloid‐β pathology, positioning it as a new therapeutic target.
Fei Qin   +9 more
wiley   +1 more source

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