Results 131 to 140 of about 27,503 (244)

Using massively parallel sequencing to determine the genetic basis of Leigh Syndrome, the most common mitochondrial disorder affecting children [PDF]

open access: yes, 2018
© 2018 Dr. Nicole Janet LakeMitochondrial diseases are debilitating illnesses caused by mutations that impair mitochondrial energy generation. The most common clinical presentation of mitochondrial disease in children is Leigh syndrome.
Lake, Nicole Janet
core  

Tipping point and molecular mechanism of the transformation of lung adenocarcinoma in situ to invasive adenocarcinoma: A study based on dynamic network markers in systems biology

open access: yesClinical and Translational Discovery, Volume 6, Issue 3, June 2026.
A dynamic network biomarker (DNBs) linking the transformation from lung AIS to IAC. Key differential genes and pathways were identified, establishing MIA as the critical tipping point for transformation. Abstract Background Lung adenocarcinoma in situ (AIS), characterised by ground‐glass nodules as observed in computed tomography imaging, generally ...
Lin Shi   +5 more
wiley   +1 more source

Lifespan Trajectories of Asymmetry in White Matter Tracts

open access: yesHuman Brain Mapping, Volume 47, Issue 8, June 1, 2026.
(A) Large‐scale lifespan modeling of white matter asymmetry. Diffusion MRI data from 35,000+ individuals (0‐100 years) across 50 cohorts were used to generate normative lifespan trajectories of white matter asymmetry. Thirty bilateral tracts were segmented, and microstructural (FA, MD, AD, RD) and macrostructural (volume, length) features were ...
Sam Bogdanov   +72 more
wiley   +1 more source

Metabolic Reprogramming and Exosome Remodeling in an Ndufs4‐Deficient Model of Leigh Syndrome

open access: yesiNew Medicine, Volume 2, Issue 2, June 2026.
Ndufs4 knockout drives exosomal remodeling, reprograms cellular metabolism, impairs neural stem cell self‐renewal and differentiation, and suppresses mTOR signaling, providing a conceptual framework for understanding Leigh syndrome pathogenesis and informing therapeutic development.
Yakun Liu   +13 more
wiley   +1 more source

On the Record with Leigh Reynolds.

open access: yes, 2013
On the record” interview with Leigh Reynolds. Reynolds, along with her daughter Taylor, founded a company called Gluten Free Therapeutics of Kennebunkport that makes supplements for people who follow a gluten-free diet.
Valigra, Lori
core  

Taking the Next Step: How Can Implementation Science Advance Diabetes Foot Care for Rural and Remote Australians?

open access: yesJournal of Foot and Ankle Research, Volume 19, Issue 2, June 2026.
ABSTRACT Diabetes‐related foot disease (DFD) is a leading cause of disability worldwide. In Australia, DFD affects approximately half a million people and is the primary driver of diabetes‐related hospitalisations, amputations and costs. Guideline‐based multidisciplinary footcare can halve these rates and improve quality of life, yet access remains ...
Angela Byrnes   +13 more
wiley   +1 more source

Drivers of Vertical HIV Transmission in Sub‐Saharan Africa and the Impact and Cost‐Effectiveness of Targeted and Universal Lenacapavir Pre‐Exposure Prophylaxis

open access: yesJournal of the International AIDS Society, Volume 29, Issue S1, June 2026.
ABSTRACT Introduction Eliminating vertical HIV transmission remains a major public health priority, particularly in sub‐Saharan Africa (SSA), which accounted for 83% of global paediatric HIV acquistions in 2024. Despite expanded antiretroviral therapy (ART) coverage, gaps in maternal ART access, retention and HIV acquisition during pregnancy and ...
Anna Yakusik   +9 more
wiley   +1 more source

mTOR Inhibition by Rapamycin Alleviates Mitochondrial Disease in the Ndufs4-Mouse Model of Leigh Syndrome

open access: yes, 2013
Mitochondrial dysfunction contributes to numerous health problems, including neurological and muscular degeneration, cardiomyopathies, cancer, diabetes, and pathologies of aging.
Wasko, Brian
core  

Current Topics of Progressive Cardiac Conduction Disease

open access: yesJournal of Arrhythmia, Volume 42, Issue 3, June 2026.
Many genes and the protein cause PCCD. Mutation of NaV1.5 or CX40 cause isolated PCCD, but mutation of lamin A/C, emerin, or desmin lead to cardiomyopathy, and PCCD. Mutation of transcription factor NCX2‐5, and Tbx5 associated with atrial septal defect and abnormal development of conduction system.
Naokata Sumitomo   +7 more
wiley   +1 more source

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