Results 181 to 190 of about 1,703,111 (346)

A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still's Disease‐like Autoinflammatory Syndrome

Arthritis &Rheumatology, Accepted Article.
Objectives Still's Disease represents a prototypical polygenic systemic autoinflammatory diseases (SAIDs), characterized by recurrent systemic inflammation and dysregulation of innate immunity. Despite extensive clinical characterization, familial clustering Still's disease remains unreported.
Longfang Chen, Qihua Dai, Yu Xiao, Jialin Dai, Mengyan Wang, Yuning Ma, Yujie Shen, Zhimo Xu, Jianfen Meng, Xia Chen, Da Yi, Yue Sun, Hui Shi, Honglei Liu, Xiaobing Cheng, Yutong Su, Junna Ye, Huihui Chi, Zhuochao Zhou, Tingting Liu, Jialin Teng, Chengde Yang, Jinchao Jia, Qiongyi Hu   +23 more
wiley   +1 more source

A novel MKRN3 missense mutation causing familial precocious puberty.

Human Reproduction, 2014
L. D. Vries, L. Vries, G. Gat-Yablonski, G. Gat-Yablonski, N. Dror, N. Dror, A. Singer, Moshe Phillip, Moshe Phillip   +8 more
semanticscholar   +1 more source

ANK1 and EPB41 Variants and The Risk of Steroid‐Induced Osteonecrosis

Arthritis &Rheumatology, Accepted Article.
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen, Xianmin Zhu, Zhongzhong Chen, Wei Chen, Hussam Alkaissi, Zeng Zhang, Yun Gao, Junhui Yin, Xiangtian Yu, Qiong Fu, Youshui Gao, Zhenzhong Zhu, Qianying Cai, Pengwei Zhang, Weibin Chen, Xin Zhao, Xiaojin Wu, Karel Pacak, Dongxu Jin, Chunde Bao, Zhengping Zhuang, Changqing Zhang   +21 more
wiley   +1 more source

The E3 Ubiquitin Ligase UBE3B Regulates Synaptic Development and Cortical Network Activity

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired communication, abnormal social interactions, and restricted, repetitive behaviors. Pathogenic mutations in UBE3B result in neurodevelopmental disease, including intellectual disability, lack of speech, and ASD.
Shayal Vashisth, Aleya Shedd, Ariel Aiken, Solmi Cheon, Josh Bandopadhay, Kiran Kaur, Kimberly M. Huber, Maria H. Chahrour   +7 more
wiley   +1 more source

Clinical phenotype and genotype analysis on a family of Becker muscular dystrophy caused by a novel missense mutation of DMD gene

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To summarize the phenotype and genotype of a family of Becker muscular dystrophy (BMD) caused by a novel missense mutation of DMD gene. Methods and Results Clinical data of one BMD proband and the family members were collected.
Yun-qing GAO, Li-yu OU, Ya-qin LI, Jing LI, Jin-fu LIN, Ruo-jie HE, Huan LI, Yu-ling ZHU, Cheng ZHANG   +8 more
doaj  

Population pharmacokinetic/pharmacodynamic modelling to evaluate favipiravir in combination with lopinavir–ritonavir in patients with COVID‐19

British Journal of Clinical Pharmacology, EarlyView.
Aims The repurposed use of favipiravir in COVID‐19 has been reported to have limited clinical efficacy, yet it has been widely used in some countries. Favipiravir causes mutagenesis in RNA viruses, and it is currently unknown whether it may have a measurable effect on the virus in humans.
Akosua A. Agyeman, Laura Buggiotti, Li‐An K. Brown, Jose A. Guerra‐Assuncao, Japhette E. Kembou‐Ringert, Wen Y. Mak, Judith Breuer, David M. Lowe, Joseph F. Standing, FLARE Investigators   +9 more
wiley   +1 more source

A novel α-synuclein missense mutation in Parkinson disease

Neurology, 2013
C. Proukakis, Christopher G. Dudzik, T. Brier, D. Mackay, J. Cooper, G. Millhauser, H. Houlden, A. Schapira   +7 more
semanticscholar   +1 more source

LHCGR Missense Mutation [PDF]

, 2020
openaire   +1 more source

Biomaterial design strategies for enhancing mitochondrial transplantation therapy

BMEMat, EarlyView.
Biomaterials to facilitate mitochondrial transplantation therapy: biomaterials as barriers to protect mitochondria from pathophysiological microenvironments, like osmotic stress caused by the excessive concentration of calcium ion, reactive oxygen species, and advanced glycation end products; biomaterials integrating with biochemical cues to improve ...
Shaoyang Kang, Yushan Zhang, Hang Li, Sirui Peng, Donghao Lyu, Chunxiao Zhou, Sheng Ding, Zujian Feng, Pingsheng Huang, Chuangnian Zhang, Hongjun Wang, Deling Kong, Weiwei Wang   +12 more
wiley   +1 more source

Clinical Discovery and Molecular Analysis of Two Novel MSH2 Gene Mutations (p.Ala771Gly and p.Val797Gly) in Saudi Colorectal Cancer Patients: Potential Implications for Tumorigenesis. [PDF]

Health Sci Rep
Rasool M, Haque A, Alharthi M, Ali T, Karim S, Mira LS, Al-Abbasi F, Aljiffry M, Ghunaim M, Sibiany A, Pushparaj PN.   +10 more
europepmc   +1 more source