Results 71 to 80 of about 119,685 (338)

Vitamin D Regulates Olfactory Function via Dual Transcriptional and mTOR‐Dependent Translational Control of Synaptic Proteins

open access: yesAdvanced Science, EarlyView.
Vitamin D (VitD) modulates olfactory function by remodeling dendrodendritic synapses in tufted cells through vitamin D receptor‐dependent transcriptional and translational mechanisms. VitD regulates synaptic protein translation partially via mTOR signaling.
Pengcheng Ren   +9 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

Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany

open access: yesBMC Endocrine Disorders, 2018
Background Adrenal crises in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) are life-threatening and have the potential to death.
Helmuth G. Dörr   +4 more
doaj   +1 more source

Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant

open access: yesFrontiers in Pediatrics, 2020
Congenital adrenal hyperplasia includes autosomal recessive conditions that affect the adrenal cortex steroidogenic enzymes (cholesterol side-chain cleavage enzyme; 3β-hydroxysteroid dehydrogenase; 17α-hydroxylase/17,20 lyase; P450 oxidoreductase; 21 ...
Antonio Balsamo   +7 more
doaj   +1 more source

Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach

open access: yesFrontiers in Endocrinology, 2022
Adrenal insufficiency in paediatric patients is mostly due to congenital adrenal hyperplasia (CAH), a severe monogenic disease caused by steroid 21-hydroxylase deficiency (21-OHD, encoded by the CYP21A2 gene) in 95% of cases.
María Arriba   +3 more
doaj   +1 more source

Current Aspects of Genetic Diagnosis of 21-Hydroxylase Insufficiency [PDF]

open access: diamond, 2021
Natalia S. Osinovskaya   +4 more
openalex   +1 more source

Microenvironment Self‐Adaptive Nanoarmor to Address Adhesion‐ and Colonization‐Related Obstacles in Impaired Intestine Promote Bacteriotherapy Against Parkinson's Disease

open access: yesAdvanced Science, EarlyView.
A microenvironment self‐adaptive nanoarmor is developed to effectively address the adhesion‐ and colonization‐related challenges posed by multiple physiological and pathological characteristics in the intestine. L. plantarum@MPN@CS showed significant therapeutic potential in treating Parkinson's disease (PD), a model for extraintestinal disorders, as ...
Limeng Zhu   +6 more
wiley   +1 more source

Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants

open access: yesJCRPE, 2021
Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), usually due to biallelic variants in CYP21A2. Classical 21-hydroxylase deficiency is characterised by virilisation of the external genitalia in females ...
Tuğba Kontbay, İhsan Turan
doaj   +1 more source

Mielolipoma adrenal gigante associado à deficiência da 21-hidroxilase: associação não usual simulando um carcinoma adrenocortical secretor de androgênios [PDF]

open access: yes, 2010
The objective of this study was to describe a case of giant myelolipoma associated with undiagnosed congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21OH) deficiency.
CASTRO, Margaret de   +6 more
core   +2 more sources

Olfactory‐to‐Entorhinal Network Dysrhythmias Drive Parkinson's Cognitive Impairment Through Frequency‐Specific Oscillatory Decoupling

open access: yesAdvanced Science, EarlyView.
Wang et al reveal that in the olfactory system, the selective impairment of gamma‐driven Barcode features underlying early olfactory deficits, while the selective impairment of theta‐driven Barcode features underlying later cognitive deficits, further establishing cross‐network gamma oscillations in the early stage as a biomarker of later cognitive ...
Shuaishuai Wang   +13 more
wiley   +1 more source

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