Endothelial dysfunction in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: current knowledge and novel biomarkers. [PDF]
Hubska J +5 more
europepmc +1 more source
Abstract figure legend Central respiratory chemoreceptors (CRCs) are critical for maintaining normal systemic levels of pH and PCO2. A CRC must respond to pH via intrinsic mechanisms. Here we quantified intrinsic chemosensitivity of medullary 5‐HT neurones and retrotrapezoid nucleus (RTN) neurones using acute dissociation.
Yuanming Wu +2 more
wiley +1 more source
Integrated multi‐omics reveals that pomegranate ripening between 90 and 130 days drives optimal sugar‐acid balance and pigmentation via coordinated regulation of phenylpropanoid, flavonoid, and carbohydrate metabolism pathways. ABSTRACT Pomegranate fruit development involves coordinated physiological, metabolic, and proteomic changes shaping coloration
Yawen Zhang +6 more
wiley +1 more source
Effect of Tokishakuyakusan on Anemia in a Rat Model of Salt‐Sensitive Hypertension
ABSTRACT Aim Anemia is prevalent in patients with cardiac and renal diseases and is associated with morbidity and mortality. Consequently, new strategies for managing anemia are expected in these patients. Tokishakuyakusan, a Kampo medicine, is clinically used to treat various conditions, such as anemia and chronic nephritis.
Yoshiro Naito +3 more
wiley +1 more source
Prednisolone impairs trabecular bone score changes in adolescents with 21-hydroxylase deficiency. [PDF]
Wiromrat P +5 more
europepmc +1 more source
Clinical Insights Into Hypercalcemia of Malignancy in Childhood
ABSTRACT Hypercalcemia of malignancy (HCM) is a rare but life‐threatening metabolic emergency in children that occurs in less than 1% of pediatric cancer cases, with a reported incidence ranging from 0.4% to 1.0% across different studies. While it is observed in 10%–20% of adult malignancies, pediatric HCM remains relatively uncommon.
Hüseyin Anıl Korkmaz
wiley +1 more source
Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva +5 more
wiley +1 more source
High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing. [PDF]
Claps A +12 more
europepmc +1 more source
Mapping the Severity of Phenylalanine Hydroxylase Deficiency
ABSTRACT Since the 1960s, phenylalanine hydroxylase (PAH) deficiency can be detected via newborn screening, allowing early start of treatment to prevent severe intellectual disability. Precise determination of PAH deficiency severity continues to be hampered by several factors.
S. Haitjema +5 more
wiley +1 more source
DDX21 Promotes Breast Cancer Growth and Metastasis via Stimulating RNAPII Elongation During Hypoxia
DDX21 triggers CDK9 release from the 7SK RNP complex. DDX21‐CDK9 binding to HIFs drives transcriptional reprogramming during hypoxia. DDX21 enhances breast cancer progression and metastasis. Elevated DDX21 expression correlates with poor prognosis in breast cancer patients.
Guangqiang Li +11 more
wiley +1 more source

