Results 191 to 200 of about 63,751 (265)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +1 more source

Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies

open access: yesJournal of Cell Communication and Signaling, Volume 20, Issue 3, September 2026.
This review elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies. Abstract Renal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of ...
Qiaowei Zhang   +7 more
wiley   +1 more source

Adult and pediatric cystic nephroma: an easily misdiagnosed renal tumor. [PDF]

open access: yesFront Oncol
Zi GR   +5 more
europepmc   +1 more source

Artificial Intelligence Resources for the Screening of Titles and Abstracts in Systematic Reviews: A Scoping Review

open access: yesCochrane Evidence Synthesis and Methods, Volume 4, Issue 5, September 2026.
ABSTRACT Introduction Artificial intelligence (AI) is a branch of technology enabling machines to emulate complex human skills; it can also entail problem‐solving using bioinspired methods. It is used for automating systematic literature reviews (SLR), that is, defining a clinical question, locating relevant literature, preliminary screening, study ...
Ana M. Barragán   +5 more
wiley   +1 more source

Emphysematous pyelonephritis: The silent March to mycotic aortic aneurysm- A catastrophic vascular complication in a diabetic patient. [PDF]

open access: yesUrol Case Rep
Nirmal KP   +8 more
europepmc   +1 more source

Serum Bone‐, Muscle‐ and Fat‐ Derived Factors Sclerostin, Irisin and Leptin Show Different Correlations With Body Composition and Bone Mineral Density in Chinese Men With Obesity: A Cross‐Sectional Study

open access: yesDiabetes/Metabolism Research and Reviews, Volume 42, Issue 6, September 2026.
ABSTRACT Aims This study aimed to explore the interactions among sclerostin, irisin and leptin, as well as their associations with body composition and bone metabolism in Chinese men with obesity. Materials and Methods This study included 26 men with normal weight and 78 men with obesity.
Xiang Chen   +5 more
wiley   +1 more source

Recurrence and timing of conversion to radical nephroureterectomy after endoscopic laser ablation for upper tract urothelial carcinoma: a multicenter Japanese study. [PDF]

open access: yesTransl Androl Urol
Tsuzuki S   +14 more
europepmc   +1 more source

Cardiovascular disease incidence and cancer risk in two large European prospective cohorts

open access: yesInternational Journal of Cancer, Volume 159, Issue 5, Page 1139-1152, 1 September 2026.
What's new? Cardiovascular disease (CVD) and cancer share risk factors and biological mechanisms, raising questions about potential associations between the two, particularly regarding CVD duration and cancer onset. Whether CVD influences subsequent cancer risk, however, remains inconclusive.
Emma Fontvieille   +25 more
wiley   +1 more source

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