Results 121 to 130 of about 533,017 (267)

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

open access: yesClinical Genetics, EarlyView.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady   +3 more
wiley   +1 more source

Adrenal Cortex Transplantation After Bilateral Total Adrenalectomy in the Rat [PDF]

open access: yes, 1989
An experimental animal model with adrenal cortex transplantation was developed to study adrenal cortex replacement therapy in patients with multiple endocrine neoplasia type 2 who have had bilateral adrenalectomy for pheochromocytomas.
Hiller, Wolfgang F. A.   +5 more
core   +1 more source

FOS and JUN regulate oxidative stress and steroidogenesis in human aldosterone-producing adenomas

open access: yesRedox Biology
Aldosterone-producing adenomas (APAs) are a major cause of primary aldosteronism (PA). While oxidative stress and steroidogenesis are intricately linked in adrenal disorders, their interplay and mechanistic basis in APA pathogenesis remain to be fully ...
Jia Wei   +7 more
doaj   +1 more source

Cerebral Ventriculomegaly With Abnormality of the Aqueduct of Sylvius: A Case Series

open access: yesClinical Genetics, EarlyView.
Genetic testing leads to a diagnostic rate of ~30% in a fetal cohort with cerebral ventriculomegaly where the neuropathological examination revealed a stenosis or atresia of the aqueduct of Sylvius. ABSTRACT Fetal cerebral ventriculomegalies are brain anomalies with potentially poor neurodevelopmental prognosis.
Romain Nicolle   +20 more
wiley   +1 more source

Vascular endothelial growth factor and endocan expression in adrenal cortical tumors and their relationship with histopathological prognostic parameters

open access: yesEndocrine Journal
The aim of this study was to determine the tissue expressions of vascular endothelial growth factor (VEGF) and endocan in adrenal cortical tumors and the factors associated with them.
Melia Karaköse   +5 more
doaj   +1 more source

Lesions of the Adrenal Cortex

open access: yesArchives of Pathology & Laboratory Medicine, 2008
Abstract Context.—In surgical pathology practice adrenal cortical tumors are rare. However, in autopsy series adrenal cortical nodules are found frequently. These are now being identified more commonly in life when the abdomen is scanned for other disease.
openaire   +2 more sources

Glucocorticoids and HPA axis regulation in the stress–obesity connection: A comprehensive overview of biological, physiological and behavioural dimensions

open access: yesClinical Obesity, Volume 15, Issue 2, April 2025.
Summary Chronic stress, characterized by increased long‐term exposure to the glucocorticoid hormone cortisol, is increasingly linked to obesity development. Still, various knowledge gaps persist, including on underlying pathophysiological mechanisms. The aim of the current review is to provide the latest insights on the connection between stress and ...
Robin Lengton   +4 more
wiley   +1 more source

Morphological and Transcriptomic Analyses of the Adrenal Gland in Acomys cahirinus: A Novel Model for Murine Adrenal Physiology

open access: yesCells
This study investigates the adrenal gland structure and gene expression in Acomys cahirinus compared to Mus musculus, aiming to assess its relevance for human adrenal disease modeling.
Alina Bilyalova   +14 more
doaj   +1 more source

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