Results 31 to 40 of about 89,390 (263)

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun   +7 more
wiley   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim   +12 more
wiley   +1 more source

Dietary Sodium Reduction Reveals Aldosterone Dysregulation in Patients With Essential Hypertension

open access: yesThe Journal of Clinical Hypertension
Dietary sodium reduction affects blood pressure (BP), the renin‐angiotensin‐aldosterone system (RAAS) and natriuretic peptides. Whether baseline levels of these hormones impact BP response to sodium reduction remains unknown.
Camilla L. Duus   +4 more
doaj   +1 more source

The Effects of Aldosterone on Hypertension-Associated Kidney Injury in a Tg-hAS Mouse Model

open access: yesBiology
Hypertension remains a global health challenge due to its high prevalence and association with premature morbidity and mortality. Aldosterone, a mineralocorticoid hormone, and its receptor, the mineralocorticoid receptor (MR), are highly implicated in ...
Huiying Gu   +5 more
doaj   +1 more source

The 9+ month marathon: How pregnancy may have shaped human endurance capacities

open access: yesThe Anatomical Record, EarlyView.
Abstract Anthropology has long considered the evolution of our uniquely human endurance capacities to be the result of selection upon anatomical and physiological features imposed by the demands of thermoregulation and resource acquisition, particularly during the demands of persistence hunting. Research has focused on the anatomical changes present in
Cara Ocobock
wiley   +1 more source

Blood pressure effects of SGLT2 inhibitors and GLP‐1 receptor agonists: Mechanisms, trial evidence and Real‐world data

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
SGLT2 inhibitors and GLP‐1 receptor agonists modestly lower blood pressure across diverse patient populations, including those without diabetes. These effects appear largely independent of glycaemic control and offer additive value in high‐risk patients with overlapping comorbidities.
Andrej Belančić   +7 more
wiley   +1 more source

Possible therapeutic repositioning of valproic acid: From epileptic seizures to acute kidney injury

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Valproic acid, an anticonvulsant, may be repositioned to prevent acute kidney injury due to ischemia followed by reperfusion. It preserves renal functions, electrolyte homeostasis and active sodium transport in kidney tubules, and blocks the onset of hypertension.
Danilo Alves‐Bezerra   +8 more
wiley   +1 more source

The effect of mild and moderate hepatic impairment on the pharmacokinetics, safety and tolerability of balcinrenone

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Balcinrenone (previously AZD9977) is a novel selective non‐steroidal mineralocorticoid receptor antagonist (MRA) with a differential mechanism of action relative to approved MRAs. The aim of this trial was to assess the pharmacokinetics, safety and tolerability of balcinrenone in participants with mild and moderate hepatic impairment ...
Anna L. Eriksson   +8 more
wiley   +1 more source

Pt‐TiO2 mesoporous nanosystem co‐delivering phlorezin enables synergistic sonodynamic‐chemoimmunotherapy for hepatocellular carcinoma via directly targeting DDX5 and metabolic reprogramming modulation

open access: yesBMEMat, EarlyView.
Abstract Hepatocellular carcinoma (HCC), ranking as the third leading cause of cancer‐related mortality globally, continues to pose significant therapeutic challenges. Here, we developed an innovative nanosystem, Phl@PT, based on Pt‐TiO2 nanoparticles for the co‐delivery of Phlorezin, presenting a novel approach for HCC treatment through sonodynamic ...
Kairui Liu   +13 more
wiley   +1 more source

Real-World Effectiveness of Mineralocorticoid Receptor Antagonists in Primary Aldosteronism

open access: yesFrontiers in Endocrinology, 2021
ObjectiveTo investigate how often target renin is pursued and achieved in patients with primary aldosteronism (PA) and other low renin hypertension (LRH) treated with mineralocorticoid receptor antagonists (MRAs), as reversal of renin suppression was ...
Yuta Tezuka, Yuta Tezuka, Adina F. Turcu
doaj   +1 more source

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