Results 71 to 80 of about 18,686 (194)

Long non-coding RNA OIP5-AS1 suppresses multiple myeloma progression by sponging miR-27a-3p to activate TSC1 expression

open access: yesCancer Cell International, 2020
Background Multiple myeloma (MM) is a prevalent hematological malignancy. Long noncoding RNAs are correlated with the development of MM. In this project, the function of lncRNA opa interacting protein 5-antisense 1 (OIP5-AS1) in MM and the potential ...
Yong Wang   +5 more
doaj   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

open access: yesEpilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi   +10 more
wiley   +1 more source

Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study

open access: yesEpilepsia Open, EarlyView.
Abstract Objective To determine the frequency of monogenic variants and pathogenic copy number variants (CNVs) in adults with surgically treated temporal lobe epilepsy (TLE). Methods We performed exome sequencing (ES), including CNV analysis, in 45 adults with TLE who had previously undergone epilepsy surgery.
Antonia P. Pirker   +12 more
wiley   +1 more source

The critical role of the proto-oncogene c-Kit in TSC renal cystogenesis

open access: yesEMBO Molecular Medicine
The epithelium of kidney cysts in mouse Tuberous Sclerosis complex (TSC) models and TSC patients is composed of proliferating A-intercalated cells. The ablation of the Foxi1 gene abolished renal cystogenesis in principal cell-specific Tsc1 knockout (Tsc1-
Kamyar Zahedi   +6 more
doaj   +1 more source

Multi‐omics–driven precision medicine

open access: yesiMeta, EarlyView.
Multi‐omics‐driven precision medicine (MODPM) provides a multiscale, continuously learnable framework that integrates genomics, epigenomics, transcriptomics, proteomics, metabolomics, microbiome profiles, and clinical data. Powered by artificial intelligence and foundation models, MODPM enables cross‐modal representation learning, contextual modeling ...
Huibo Li   +20 more
wiley   +1 more source

Epigenetic Regulation in the Pathogenesis of Renal Inflammation: Insights and Therapeutic Potentials

open access: yesiNew Medicine, EarlyView.
ABSTRACT Renal inflammation is a common pathological process in various kidney diseases, often initiated by factors such as toxins, ischemia, or autoimmune reactions. This inflammatory response can result in structural damage and a rapid decline in renal function.
Yu‐Hang Dong   +5 more
wiley   +1 more source

Nail Disorders in Systemic Conditions

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT Nail findings in children can be indicative of an underlying systemic disease. Many of these findings are seen in multiple entities and are not specific to one disease. The importance of specifically examining for these nail changes cannot be overstated.
Jane Sanders Bellet
wiley   +1 more source

Timing of mTOR activation affects tuberous sclerosis complex neuropathology in mouse models

open access: yesDisease Models & Mechanisms, 2013
SUMMARY Tuberous sclerosis complex (TSC) is a dominantly inherited disease with high penetrance and morbidity, and is caused by mutations in either of two genes, TSC1 or TSC2. Most affected individuals display severe neurological manifestations – such as
Laura Magri   +7 more
doaj   +1 more source

Comprehensive genomic profiling of mucosal melanoma reveals novel fusion transcripts and dysregulation of cell‐cycle, MAPK, and PI3K pathways

open access: yesThe Journal of Pathology, EarlyView.
Abstract Mucosal melanomas (MMs) are rare, aggressive cancers with poor outcomes and limited response to standard therapies. A significant knowledge gap exists regarding their genomic landscape and corresponding druggable targets. This study explores this issue through a multi‐omic analysis, including whole exome‐, RNA‐, and targeted sequencing, of ...
Matilde Monti   +21 more
wiley   +1 more source

Natural Products Exhibit Therapeutic Potential in Treating Rheumatoid Arthritis by Targeting the PI3K/Akt Signaling Pathway

open access: yesPhytotherapy Research, EarlyView.
This review summarizes how natural products, mainly including flavonoids, terpenoids, alkaloids, and polyphenols alleviate RA via PI3K/Akt pathway, regulating inflammation, proliferation, apoptosis, angiogenesis, and osteoclast differentiation. The figure was created by Figdraw (https://www.figdraw.com/#/).
Haishuo Ren   +10 more
wiley   +1 more source

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