Results 81 to 90 of about 110,880 (279)

Transitioning into Adulthood with PKU: The Role of Diet, Coping Strategies, and Quality of Life in Adolescents and Young Adults

open access: yesPsychology International
Background: Phenylketonuria (PKU) is a rare metabolic disorder requiring lifelong dietary treatment. Adolescents and young adults face unique challenges in managing the condition, often compromising adherence and psychological well-being.
Chiara Cazzorla   +7 more
doaj   +1 more source

Hyperandrogenemia Induces Trophoblast Ferroptosis and Early Pregnancy Loss in Patients With PCOS via CMA‐Dependent FTH1 Degradation

open access: yesAdvanced Science, EarlyView.
In PCOS patients with hyperandrogenemia, decreased ferritin heavy chain 1 (FTH1) causes Fe2⁺ overload and ferroptosis in trophoblasts. Androgens induce FTH1 protein degradation via AR‐LAMP2A‐mediated chaperone‐mediated autophagy pathway, leading to placental development disruption and early pregnancy loss. Metformin mitigates androgen‐induced placental
Hanjing Zhou   +10 more
wiley   +1 more source

USP9X as a Candidate Mediator of Prenatal Aspirin‐Induced Ovarian Reserve Reduction in Offspring Mice

open access: yesAdvanced Science, EarlyView.
This study suggests that prenatal aspirin exposure is associated with reduced ovarian reserve in offspring, associated with HDAC1‐linked epigenetic downregulation of Usp9x as a candidate mechanism. These preclinical findings provide new insights into fetal‐origin ovarian disorders and contribute to the evidence base concerning aspirin's gestational ...
Yating Li   +11 more
wiley   +1 more source

Exclusive Breastfeeding Drives AMPK‐Dependent Thermogenic Memory in BAT and Promotes Long‐Term Metabolic Benefits in Offspring

open access: yesAdvanced Science, EarlyView.
Exclusive breastfeeding establishes a thermogenic memory in brown adipose tissue by activating the HIF1AN/AMPK/α‐ketoglutarate axis via milk‐derived extracellular vesicles enriched in miR‐125a‐5p. This programming preserves metabolic health, while αKG supplementation restores BAT function under mixed feeding, offering strategies to mitigate the ...
Ningxi Wu   +13 more
wiley   +1 more source

Genetic analyses of very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report with a novel ACADVL variant

open access: yesMolecular Genetics and Metabolism Reports
Background: Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disease associated with variants in the ACADVL gene.
Wei Zhou, Huizhong Li, Li Yang
doaj   +1 more source

Inactivation of AXL in Cardiac Fibroblasts Alleviates Right Ventricular Remodeling in Pulmonary Hypertension

open access: yesAdvanced Science, EarlyView.
Pulmonary hypertension (PH) is a progressive condition with high morbidity and mortality, largely owing to right ventricular (RV) failure resulting from maladaptive remodeling. Our study provides strong evidence in support of a critical, detrimental role for AXL as a previously unrecognized determinant driving RV fibrotic pathology in PH.
Li‐Wei Wu   +17 more
wiley   +1 more source

Single‐Field Evolution Rule Governs the Dynamics of Representational Drift in Mouse Hippocampal Dorsal CA1 Region

open access: yesAdvanced Science, EarlyView.
Long‐term hippocampal place‐code dynamics are investigated using calcium imaging across weeks of maze navigation. Analyses reveal a novelty‐irrelevant Single‐Field Evolution Rule (SFER), where active fields promote persistence and inactive fields decline.
Cong Chen   +10 more
wiley   +1 more source

Sex‐specific newborn screening for X‐linked adrenoleukodystrophy

open access: hybrid, 2022
Monique Albersen   +20 more
openalex   +1 more source

Decoding Human Placental Cellular and Molecular Responses to Obesity and Fetal Growth

open access: yesAdvanced Science, EarlyView.
Women with obesity often deliver large‐for‐gestational‐age (LGA) infants. Single‐nucleus RNA sequencing of term placenta reveals that hypoxia and TNF‐α signaling in syncytiotrophoblasts are featured in maternal obesity, but inflammatory signatures in Hofbauer cells and response to lipid or carbohydrate metabolism in fibroblasts are specific to LGA.
Hong Jiang   +12 more
wiley   +1 more source

Genotype Characteristics and Hearing Phenotype Analysis of Newborns with Biallelic GJB2 Mutations: A 652-Case–Cohort Study

open access: yesInternational Journal of Neonatal Screening
This study aims to investigate the genotype characteristics of newborns with biallelic GJB2 mutations and their correlation with hearing phenotypes, providing a basis for clinical genetic counseling and hearing management.
Jianjun Li, Bo Wu, Wenlan Liu
doaj   +1 more source

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