Results 141 to 150 of about 64,970 (243)
Clinical utility of liquid biopsy‐based epigenetic profiling in PDAC management. Aberrant methylation of LAX1, RCAN3, and NR3C1 was identified in cfDNA from mPDAC patients, highlighting their potential as non‐invasive epigenetic biomarkers. Methylation levels of these genes showed prognostic value, supporting their relevance for patient stratification ...
Pablo Cano‐Ramírez +7 more
wiley +1 more source
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens +3 more
wiley +1 more source
From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family
Abstract Mitochondrial carrier proteins are essential for cellular physiology as they are active in a wide range of metabolic pathways including production of cellular energy, amino acid synthesis, redox balance and ion homeostasis. The double membrane of mitochondria provides a tightly gated environment through which carrier proteins facilitate the ...
Catherine S. Palmer +2 more
wiley +1 more source
Systematic genetic screening in a prospective group of Danish patients with pheochromocytoma
Morten Steen Svarer Hansen,1 Niels Jacobsen,1 Anja Lisbeth Frederiksen,2 Lars Lund,3 Marianne Skovsager Andersen,1 Dorte Glintborg1 1Department of Endocrinology and Metabolism, 2Department of Clinical Genetics, 3Department of Urology, Odense University ...
Hansen MSS +5 more
doaj
ABSTRACT Background Obesity poses technical challenges in adrenalectomy. Robotic adrenalectomy (RA) offers advantages over laparoscopic adrenalectomy (LA), but evidence in obese patients remains limited. Methods A meta‐analysis of comparative studies through 2025 assessed perioperative outcomes of RA versus LA, with subgroup analyses by body habitus ...
Ahmed Abdelsamad +8 more
wiley +1 more source
ABSTRACT Background Nine young researchers presented their studies in the field of traditional Japanese Kampo medicine (Wakan‐yaku) at the Sixth Annual Young Researcher Forum held the day before the 2025 annual meeting of the Japan Society of Medical and Pharmaceutical Sciences for Traditional Medicine. Main Presentations Dr.
Tetsuhiro Yoshino +14 more
wiley +1 more source
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil +9 more
wiley +1 more source
ABSTRACT India is witnessing a growing burden of early‐onset hypertension and cardiovascular disease, particularly among adults under the age of 40. Despite this trend, current national screening programs predominantly target individuals over 40, resulting in a significant gap in early detection and prevention efforts.
Uday M. Jadhav +8 more
wiley +1 more source
ABSTRACT Patients referred to specialist hypertension clinics often have complex disease characterized by secondary causes, treatment resistance and coexisting kidney disease. Real‐world outcome data in this setting remain limited. We conducted a retrospective cohort study of 199 patients attending a tertiary hypertension clinic between January 2017 ...
William R. Marshall +5 more
wiley +1 more source

