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A proposed classification for standardized reporting of liver disease in children with autosomal recessive polycystic kidney disease

JPGN Reports, Volume 7, Issue 3, Page 477-478, August 2026.
Kavya Kurkal, Girish L. Gupte
wiley +1 more source

Intermittent exogenous ketosis increases erythropoietin in healthy adults: A randomized, placebo‐controlled study with preliminary sex‐specific observations

Physiological Reports, Volume 14, Issue 15, August 2026.
Intermittent exogenous ketosis stimulates erythropoietin, with greater EPO response and elevated ferritin in females but no significant changes in circulating hemoglobin or red blood cell count at 2 weeks. Abstract Exogenous ketosis may stimulate erythropoietin (EPO), yet its impact on erythropoiesis, iron metabolism, and potential sex‐specific ...
Henrik Holm Thomsen +3 more
wiley +1 more source

Centriolar Protein POC5 Regulates Human Adipogenesis and Cellular Senescence: Insights From a Novel Metabolic Ciliopathy

The FASEB Journal, Volume 40, Issue 14, 31 July 2026.
The identification of a patient carrying a novel homozygous p.(Gln206Ter) POC5 variant revealed a metabolic phenotype associated with POC5 deficiency. POC5 deficiency disrupts centriolar architecture and ciliary organization, leading to impaired proliferation, premature cellular senescence, and reduced insulin signaling.
Valeria Pistorio +10 more
wiley +1 more source

Compound heterozygous mutations in CC2D2A cause Meckel-Gruber syndrome: a case report and review of the literature. [PDF]

J Med Case Rep
Liu L, Lv Y, Zhou X.
europepmc +1 more source

Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report. [PDF]