Results 61 to 70 of about 2,554 (202)

Whole-exome sequencing for the identification of susceptibility genes of Kashin-Beck disease.

PLoS ONE, 2014
ObjectiveTo identify and investigate the susceptibility genes of Kashin-Beck disease (KBD) in Chinese population.MethodsWhole-exome capturing and sequencing technology was used for the detection of genetic variations in 19 individuals from six families ...
Zhenxing Yang, Yu Xu, Hongrong Luo, Xiaohong Ma, Qiang Wang, Yingcheng Wang, Wei Deng, Tao Jiang, Guangqing Sun, Tingting He, Jingchu Hu, Yingrui Li, Jun Wang, Tao Li, Xun Hu   +14 more
doaj   +1 more source

The Silent Shift: Investigating Selenium Biovolatilization in Natural Environments

Reviews of Geophysics, Volume 63, Issue 4, December 2025.
Abstract Selenium (Se) is essential for human health. Organisms produce volatile Se through metabolism, which is an essential but hidden component of the Se geochemical cycle. Understanding this natural cycle is vital for sustainable development and ecosystem protection, thereby preserving planetary health and fostering harmonious coexistence between ...
Ruixuan Zhang, Xiaoping Wang, Yunqiao Zhou, Lei Chai, Jiamin Zeng, Li Xu   +5 more
wiley   +1 more source

Chemical composition of natural waters from the Urov endemic area

Desalination and Water Treatment
Owing to the importance of drinking water in human nutrition, in this study, we performed a comparative analysis of the chemical composition of drinking water from settlements endemic to Kashin–Beck disease and from territories that are not endemic to ...
Vadim Ermakov, Vladimir Safonov, Valentina Danilova, Uliana Gulyaeva, Sergey Tyutikov   +4 more
doaj   +1 more source

Ictal Asystole in a Patient With DEE due to an FGF12 Pathogenic Variant: A Reminder to Monitor Cardiac Function

Clinical Genetics, Volume 108, Issue 4, Page 486-487, October 2025.
We report the first known case of a 9‐year‐old male with early‐onset epilepsy, syncope, and ictal asystole–requiring pacemaker implantation at the age of seven–associated with a pathogenic variant in FGF12.
Johanne Piotrowski, Élise Schaefer, Michael Kuntz, Virginie Bois, Franz Schieffer, Laurence Jesel, Margaux Biehler, Anne De Saint Martin, Sarah Baer   +8 more
wiley   +1 more source

Chondrocyte responses to neurovascular peptides, cytokines, and a 3D environment: focus on ADAMs [PDF]

, 2016
Chondrocyte exposure to inflammatory stimuli in several arthritic conditions, including osteoarthritis, results in the well-characterised induction of extracellular matrix (ECM) degrading proteinases, notably members of a disintegrin and ...
Baker, N, Bevan, D, Donell, ST, Gavrilovic, J, Goldring, MB   +4 more
core   +2 more sources

Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population

BMC Medical Genetics, 2017
Background Many osteoarthritis (OA) susceptibility genes have been identified in recent years. Given the overlap in the phenotype of joint inflammation between OA and Kashin-Beck disease (KBD), the aim of this study is to explore whether the reported OA ...
Zhengfu Tai, Lulin Huang, Fang Lu, Yi Shi, Shi Ma, Jing Cheng, He Lin, Xin Liu, Yuanfeng Li, Zhenglin Yang   +9 more
doaj   +1 more source

Investigation of selenium nutritional status and dietary pattern among children in Kashin-Beck disease endemic areas in Shaanxi Province, China using duplicate portion sampling method

Environment International, 2022
Background and objectives: Selenium deficiency is a primary risk factor of Kashin-Beck disease (KBD). This study aimed to investigate whether children in endemic areas could maintain sufficient selenium intake after termination of selenium supplement ...
Yujie Ning, Minhan Hu, Sijie Chen, Feiyu Zhang, Xiaodong Yang, Qingping Zhang, Yi Gong, Ruitian Huang, Yanli Liu, Feihong Chen, Leilei Pei, Xiong Guo, Lianke Kang, Xinyi Wang, Yan Zhang, Xi Wang   +15 more
doaj   +1 more source

New Glycoconjugates Containing Selenium and Polyphenols. Stereoselective Synthesis by Pummerer‐like Rearrangement.

European Journal of Organic Chemistry, Volume 28, Issue 26, July 12, 2025.
Two series of novel six‐membered Se‐glycoconjugates containing hydroxycinnamic acids marked by well‐known antioxidant properties are synthesized, exploiting a Mitsunobu reaction and a Pummerer‐like rearrangement. A first example of six‐membered selenosugar with selenium in the ring and bearing an acetal‐like functional group at C‐1 was reported, which ...
Claudia González, Mauro De Nisco, Reinier Lemos, Giovanna Cimmino, Yoana Pérez‐Badell, Severina Pacifico, Silvana Pedatella   +6 more
wiley   +1 more source

Ophioglossum polyphyllum A. Braun in Seub. (Ophioglossaceae, Pteridophyta), a rare potherb in south central Tibet (T.A.R., P.R.China) [PDF]

, 2008
peer ...
delcarte,, Haubruge, Eric, Lognay, Georges, Malaisse, François, Marlier, Michel, Mathieu, F., Wathelet, Bernard   +6 more
core  

COL9A1 gene polymorphism is associated with Kashin-Beck disease in a northwest Chinese Han population. [PDF]

PLoS ONE, 2015
OBJECTIVE: We sought to determine whether genomic polymorphism in collagen IX genes (COL9A) was associated with Kashin-Beck disease (KBD). METHODS: Twenty seven single nucleotide polymorphisms (SNPs) in COL9AI, COL9A2 and COL9A3 were genotyped in 274 KBD
Xiaowei Shi, Feng Zhang, Aili Lv, Yan Wen, Xiong Guo   +4 more
doaj   +1 more source