Results 11 to 20 of about 797,211 (269)

Defects of steroidogenesis [PDF]

Journal of Endocrinological Investigation, 2010
In the biosynthesis of steroid hormones the neutral lipid cholesterol, a normal constituent of lipid bilayers is transformed via a series of hydroxylation, oxidation, and reduction steps into a vast array of biologically active compounds: mineralocorticoids, glucocorticoids, and sex hormones.
BIASON LAUBER A, BOSCARO, MARCO, MANTERO, FRANCO, BALERCIA G.   +3 more
openaire   +4 more sources

Molecular mechanism of Wilms’ tumor (Wt1) (+/−KTS) variants promoting proliferation and migration of ovarian epithelial cells by bioinformatics analysis

Journal of Ovarian Research, 2023
Epithelial ovarian cancer (EOC) is a gynecological disease with the highest mortality. With the lack of understanding of its pathogenesis, no accurate early diagnosis and screening method has been established for EOC.
Xiaomei Wang, Jingyu Zhao, Yixin Zhang, Yuxin Liu, Jinzheng Wang, Ruoxi Shi, Jinxiang Yuan, Kai Meng   +7 more
doaj   +1 more source

DNA double-strand break genetic variants in patients with premature ovarian insufficiency

Journal of Ovarian Research, 2023
Premature ovarian insufficiency (POI) is a clinically heterogeneous disease that may seriously affect the physical and mental health of women of reproductive age.
Xuechun Ding, Xiaowei Gong, Yingying Fan, Jinghe Cao, Jingyu Zhao, Yixin Zhang, Xiaomei Wang, Kai Meng   +7 more
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Concurrent newborn hearing and genetic screening of common hearing loss variants with bloodspot-based targeted next generation sequencing in Jiangxi province

Frontiers in Pediatrics, 2022
Background and aimsConcurrent hearing and genetic screening of newborns have been widely adopted as an effective strategy in early diagnosis and intervention for hearing loss in many cities in China.
Haiyan Luo, Yan Yang, Xinrong Wang, Fangping Xu, Cheng Huang, Danping Liu, Liuyang Zhang, Ting Huang, Pengpeng Ma, Qing Lu, Shuhui Huang, Bicheng Yang, Yongyi Zou, Yanqiu Liu   +13 more
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Untargeted Global Metabolomic Analysis Reveals the Mechanism of Tripropylamine-Enhanced Lycopene Accumulation in Blakeslea trispora

Frontiers in Bioengineering and Biotechnology, 2021
We previously determined that the cyclase inhibitor tripropylamine (TPA) significantly enhances lycopene accumulation in Blakeslea trispora. To elucidate the mechanism of TPA-enhanced lycopene accumulation, the untargeted metabolome of B.
Yanlong Wang, Yulong Wang, Yicun Wang, Xin Chen, Cunping Liu, Meng Zhang, Keying Liu, Yuechao Zhao, Zexu Li   +8 more
doaj   +1 more source

Single‐cell and spatial transcriptomics reveal the fibrosis‐related immune landscape of biliary atresia

Clinical and Translational Medicine, 2022
Background Biliary atresia (BA) is a devastating inflammatory and fibrosing cholangiopathy of neonates with unknown aetiology. We aim to investigate the relationship between these two main characteristics.
Chunjing Ye, Jiajie Zhu, Junfeng Wang, Deqian Chen, Lingdu Meng, Yong Zhan, Ran Yang, Shiwei He, Zifeng Li, Shuyang Dai, Yi Li, Song Sun, Zhen Shen, Yanlei Huang, Rui Dong, Gong Chen, Shan Zheng   +16 more
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Diagnostic Value and Effectiveness of an Artificial Neural Network in Biliary Atresia

Frontiers in Pediatrics, 2020
Objectives: Biliary atresia (BA) is a devastating pediatric liver disease. Early diagnosis is important for timely intervention and better prognosis.
Jia Liu, ShuYang Dai, Gong Chen, Song Sun, JingYing Jiang, Shan Zheng, YiJie Zheng, Rui Dong   +7 more
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Lycopene Aggravates Acute Gastric Injury Induced by Ethanol

Frontiers in Nutrition, 2021
Lycopene is an important natural red pigment with strong singlet oxygen and peroxide free radical quenching ability. Ethanol directly destroys the epithelial cells of gastric mucosa, causing oxidative damage and inflammation.
Xin Chen, Yuechao Zhao, Keying Liu, Zexu Li, Xingru Tan, Yulong Wang, Na Gao, Chenming Liu, Xiaoqi Fang, Yanlong Wang   +9 more
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A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5

BMC Medical Genetics, 2020
Background Neuronal ceroid lipofuscinosis type 5 (CLN5) is a rare form of neuronal ceroid lipofuscinoses (NCLs) which are a group of inherited neurodegenerative diseases characterized by progressive intellectual and motor deterioration, visual failure ...
Wei Li, Xin Fan, Yue Zhang, Limei Huang, Tingting Jiang, Zailong Qin, Jiasun Su, Jingrong Luo, Shang Yi, Shujie Zhang, Yiping Shen   +10 more
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A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8

Molecular Genetics & Genomic Medicine, 2021
Background Nemaline myopathy 8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, contractures, fractures, respiratory failure and swallowing difficulties apparent at birth.
Sheng Yi, Yue Zhang, Zailong Qin, Shang Yi, Haiyang Zheng, Jingsi Luo, Qifei Li, Jin Wang, Qi Yang, Mengting Li, Fei Chen, Qiang Zhang, Qinle Zhang, Yiping Shen   +13 more
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