Results 151 to 160 of about 91,175 (237)

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson   +10 more
wiley   +1 more source

Fibroblasts‐specific p16INK4a exacerbates inflammageing‐mediated post‐infarction ventricular remodelling through interacting with STAT3 to regulate NLRP3 transcription

open access: yesClinical and Translational Medicine, Volume 15, Issue 6, June 2025.
In ageing fibroblasts, p16INK4a concurrently enhanced STAT3 di‐methylation mediated by EZH2 and suppressed the assembly of Bmi‐1‐EZH2/BCL‐6 complexes at the NLRP3 promoter region. These dual regulatory actions synergistically upregulated STAT3‐dependent NLRP3 transcription, thereby exacerbating inflammageing‐driven ventricular remodelling following ...
Xin Gu   +17 more
wiley   +1 more source

Clinical profile, short and long‐term outcomes of non‐ischaemic cardiogenic shock: A FRENSHOCK sub‐analysis

open access: yesESC Heart Failure, Volume 12, Issue 3, Page 2335-2346, June 2025.
Abstract Aims Although predominant in routine practice, non‐ischaemic cardiogenic shock (NICS) remains underrepresented in past studies, mainly focused on ischaemic cardiogenic shock (CS). This study aims to describe the current NICS picture and define its independent correlates of short‐ and long‐term outcomes.
Miloud Cherbi   +20 more
wiley   +1 more source

Trametinib alters contractility of paediatric Noonan syndrome‐associated hypertrophic myocardial tissue slices

open access: yesESC Heart Failure, Volume 12, Issue 3, Page 2321-2334, June 2025.
Abstract Aims No curative treatment is available for RASopathy‐associated childhood‐onset hypertrophic cardiomyopathy (RAS‐CM). Preclinical data and individual reports suggest a beneficial effect of small molecules targeting the RAS–mitogen‐activated protein (MAP) kinase (MAPK) pathway in severely affected RAS‐CM patients.
Jules Hamers   +11 more
wiley   +1 more source

Early genetic screening and cardiac intervention in patients with cardiomyopathies in a multidisciplinary clinic

open access: yesESC Heart Failure, Volume 12, Issue 3, Page 1942-1955, June 2025.
Abstract Aims Patients with cardiomyopathies are a heterogeneous group of patients who experience high morbidity and mortality. Early cardiac assessment and intervention with access to genetic counselling in a multidisciplinary Cardiomyopathy Clinic may improve outcomes and prevent progression to advanced heart failure.
Chandu Sadasivan   +12 more
wiley   +1 more source

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