This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot+13 more
wiley +1 more source
Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity
A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis+14 more
wiley +1 more source
The effect of ethanol on cortisol metabolism in man : a thesis presented in partial fulfilment of the requirements for the degree of Master of Science in Biochemistry at Massey University. [PDF]
Methods were developed for the estimation of human plasma cortisol by radioimmunoassay and urinary 6β-hydroxycortisol (6βOHF) by colorimetry after separation by thin layer chromatography (TLC).
Evans, Pandora Carlyon
core
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
STUDIES ON THE INTERDEPENDENT EFFECTS OF STRESS AND THE ADRENAL CORTEX ON CARBOHYDRATE METABOLISM IN MAN 1 [PDF]
Thomas W. Burns+6 more
openalex +1 more source
Qué sabemos sobre las consecuencias a largo plazo de la separación materna temprana y la respuesta neuroendocrina al estrés [PDF]
Adverse conditions during early life are a risk factor for stress-related diseases. How this early adversity induce long-term effects is not well understood, however there are several evidence that the stress hormones play a determining role.
Renard, Georgina Maria+1 more
core
Herbal Medicine for Colorectal Cancer Treatment: Molecular Mechanisms and Clinical Applications
Colorectal cancer is a prevalent gastrointestinal tumour and the second deadliest cancer worldwide, affecting approximately 10% of all cancers and cancer‐related deaths. Current clinical methods for treating CRC cause gastrointestinal abnormalities and myelosuppression.
Zuqing Su+5 more
wiley +1 more source
Lipid metabolism in the adrenal gland
The adrenal gland consists of the medulla and the cortex. The chromaffin cells of the adrenal medulla release catecholamines via regulated exocytosis.
Anika Aderhold, Vasileia Ismini Alexaki
doaj +1 more source
CHANGES IN CIRCULATING LEUKOCYTES FOLLOWING THE ADMINISTRATION OF ADRENAL CORTEX EXTRACT (ACE) AND ADRENOCORTICOTROPIC HORMONE (ACTH) IN INFECTIOUS MONONUCLEOSIS AND CHRONIC LYMPHATIC LEUKEMIA [PDF]
Richard H. Saunders, Elijah Adams
openalex +1 more source