Results 61 to 70 of about 75,592 (343)

Clinical and molecular review of atypical congenital adrenal hyperplasia [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2015
Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the mutations in the genes encoding for steroidogenic enzymes that involved cortisol synthesis ...
Taninee Sahakitrungruang
doaj   +1 more source

Long-Term Health Outcomes of Korean Adults With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency [PDF]

, 2021
Seung Gyun Lim, Young Ah Lee, Han Na Jang, Sung Hye Kong, Chang Ho Ahn, Sang Wan Kim, Choong Ho Shin, Jung Hee Kim   +7 more
openalex   +1 more source

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

Advanced 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, Renhe Cao, Xiaoshan Ye, Wenbin Pang, Qingshang Bi, Meihui Huang, Qionglin Zhou, Dan Ye, Wei Xiang, Le Xiao   +9 more
wiley   +1 more source

Clinical Characteristics of Taiwanese Children With Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency in the Pre-screening Era

Journal of the Formosan Medical Association, 2010
Data about the clinical manifestations of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (21-OHD) are lacking in Taiwan. Therefore, this study analyzed the clinical features of 21-OHD in Taiwanese children to improve the diagnosis of ...
Cheng-Ting Lee, Yi-Ching Tung, Pei-Hung Hsiao, Jing-Sheng Lee, Wen-Yu Tsai   +4 more
doaj   +1 more source

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

Advanced 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, Yuyu Wu, Yingjie Chen, Xiyi Chen, Xingjie Zan, Yanlong Liu, Wujun Geng   +6 more
wiley   +1 more source

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

Advanced 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, Zhishen Cai, Xingfeng Mao, Yixuan Zhang, Yunlong Pan, Jiawen Cheng, Xuechun Wang, Hengyi Song, Sasaki Takuya, Ming Lu, Gang Hu, Xiuxiu Liu, Yingmei Lu, Feng Han   +13 more
wiley   +1 more source

Unexpected Dual Function of Plant YUCCA Enzymes Links Chlorophyll Catabolism to Auxin Homeostasis

Angewandte Chemie, EarlyView.
YUCCA enzymes are well known to catalyze the main step of auxin biosynthesis in plants. Here, a hitherto undescribed dual function was discovered, revealing that some YUCCAs also act in chlorophyll degradation. In vitro feedback regulation furthermore suggests a link between chlorophyll degradation and hormone homeostasis and a physiological role of ...
Sina Rütschlin, Lei Zhang, Cornelia A. Karg, Michael Zwerger, Johanna M. Gostner, Simone Moser, Robin Teufel   +6 more
wiley   +2 more sources

Review of Health Problems in Adult Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Experimental and clinical endocrinology & diabetes, 2019
The introduction of newborn screening programmes in most Western countries for classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) enables timely introduction of life-saving glucocorticoid replacement in affected babies.
N. Reisch
semanticscholar   +1 more source

Activating the Osteoblastic USP26 Pathway Alleviates Multi‐Organ Fibrosis by Decreasing Insulin Resistance

Advanced Science, EarlyView.
The loss of Ubiquitin Specific Peptidase 26 (USP26) in osteoblasts results in decreased bone formation, as well as multi‐organ fibrosis associated with insulin resistance (IR). Mechanistically, the absence of USP26 reduces glycolysis and lactate accumulation, leading to decreased histone H3 lysine 18 lactylation (H3K18LA) in the promoter region of KH ...
Jiyuan Tang, Wenkai Ye, Liang He, Zhou Dan, Leilei Chang, Zijie You, Yuanyue Jiang, Guoqing Tang, Lianfu Deng, Changwei Li   +9 more
wiley   +1 more source

Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan

International Journal of Neonatal Screening, 2021
Congenital adrenal hyperplasia (CAH) is an inherited disorder caused by the absence or severely impaired activity of steroidogenic enzymes involved in cortisol biosynthesis. More than 90% of cases result from 21-hydroxylase deficiency (21OHD). To prevent
Atsumi Tsuji-Hosokawa, Kenichi Kashimada
doaj   +1 more source