Results 91 to 100 of about 181,670 (303)

Cell‐Free DNA‐Based Theranostics for Inflammatory Disorders

open access: yesAdvanced Science, EarlyView.
Summary on the dual potential of cfDNA as biomarkers and therapeutic targets for inflammatory disorders. Figure was created with BioRender.com. ABSTRACT Inflammatory disorders are characterized by immune‐mediated inflammatory cascades that can affect multiple organs.
Jiatong Li   +7 more
wiley   +1 more source

Steroid Hormone Regulation and Prognostic Value of the Human Kallikrein Gene 14 in Ovarian Cancer [PDF]

open access: bronze, 2003
George M. Yousef   +8 more
openalex   +1 more source

Migrasomes in Ischemic Stroke: Molecular Landscape and Pathophysiological Impact

open access: yesAdvanced Science, EarlyView.
Multi‐omics profiling of stroke patients exposes systemic molecular fingerprints of immune activation, oxidative stress and metabolic collapse. Complement and coagulation cascade, and cholesterol metabolism emerge as shared functional hallmarks of plasma migrasomes in stroke patients and migrasomes isolated from experimental stroke mice.
Huifen Zhou   +16 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

open access: yesHepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan   +19 more
wiley   +1 more source

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón   +10 more
wiley   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat   +4 more
wiley   +1 more source

Imbalances in adrenal hormones and their effects on bone metabolism

open access: yesEndocrine Journal
Adrenal hormones are essential for maintaining physiological homeostasis; however, imbalances in their production can significantly impact bone metabolism.
Maki Yokomoto-Umakoshi   +2 more
doaj   +1 more source

Epstein–Barr Virus, Lower Vitamin D, Low Sun Exposure, and HLA‐DRB1*1501 Risk Variant Share Common Epigenetic Pathways Leading to Multiple Sclerosis Onset

open access: yesAnnals of Neurology, EarlyView.
Objectives Multiple sclerosis (MS) onset risk factors include Epstein–Barr virus (EBV) indices (including host response), lower serum 25‐vitamin D (25(OH)D) levels, low sun exposure, and HLA‐DRB1*1501. The underlying molecular mechanisms are unclear. Here, we examined mediation through differential DNA methylation (DNAm) to better understand possible ...
Steve Simpson‐Yap   +37 more
wiley   +1 more source

Implantable Drug Delivery Systems for Skeletal Muscles and Eyes

open access: yesAdvanced NanoBiomed Research, EarlyView.
This review highlights the different types of recent implantable drug delivery systems (IDDS) fabricated for a use with skeletal muscles, and with eyes. It presents the developments already made and the current research directions, showing the evolution of IDDS and their great diversity.
Serge Ostrovidov   +8 more
wiley   +1 more source

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