Results 71 to 80 of about 29,259 (193)

Pharmacogenomics Factors Influencing the Effect of Risperidone on Prolactin Levels in Thai Pediatric Patients With Autism Spectrum Disorder

Frontiers in Pharmacology, 2021
We investigated the association between genetic variations in pharmacodynamic genes and risperidone-induced increased prolactin levels in children and adolescents with autism spectrum disorder (ASD).
Yaowaluck Hongkaew, Yaowaluck Hongkaew, Yaowaluck Hongkaew, Andrea Gaedigk, Andrea Gaedigk, Bob Wilffert, Bob Wilffert, Roger Gaedigk, Roger Gaedigk, Wiranpat Kittitharaphan, Nattawat Ngamsamut, Penkhae Limsila, Apichaya Puangpetch, Apichaya Puangpetch, Rattanaporn Sukprasong, Rattanaporn Sukprasong, Chonlaphat Sukasem, Chonlaphat Sukasem, Chonlaphat Sukasem   +18 more
doaj   +1 more source

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

Arthritis &Rheumatology, EarlyView.
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

Structural Basis for the Enzymatic Activity of the HACE1 HECT‐Type E3 Ligase Through N‐Terminal Helix Dimerization

Advanced Science, 2023
HACE1 is an ankyrin repeat (AKR) containing HECT‐type E3 ubiquitin ligase that interacts with and ubiquitinates multiple substrates. While HACE1 is a well‐known tumor suppressor, its structure and mode of ubiquitination are not understood.
Sunil Singh, Satoru Machida, Nikhil Kumar Tulsian, Yeu Khai Choong, Joel Ng, Srihari Shankar, Yaochen Liu, Krisha Vashdev Chandiramani, Jian Shi, J Sivaraman   +9 more
doaj   +1 more source

Nucleoporin Nup358 Downregulation Tunes the Neuronal Excitability in Mouse Cortical Neurons

Life, 2023
Nucleoporins (NUPs) are proteins that comprise the nuclear pore complexes (NPCs). The NPC spans the nuclear envelope of a cell and provides a channel through which RNA and proteins move between the nucleus and the cytoplasm and vice versa.
Vladimir A. Martínez-Rojas, Francesca Pischedda, Isabel Romero-Maldonado, Bouchra Khalaf, Giovanni Piccoli, Paolo Macchi, Carlo Musio   +6 more
doaj   +1 more source

Tackling cancer stemness with nanotechnology in the era of precision medicine

BMEMat, EarlyView.
Precise customization of nanoparticles (NPs) enables active targeting of cancer stem cells (CSCs), thereby improving drug delivery and therapeutic efficacy. NP‐based probing enhances CSC detection through imaging and liquid biopsy, whereas diverse therapeutic payloads improve therapeutic outcomes.
Shaolei Guo, Shun Yao, Lihui Meng, Chunyuan Chen, Yuechu Lucinda Lu, Rong Lu, Kashif Rafiq Zahid, Umar Raza, Qingzhi Wu, Wenli Chen   +9 more
wiley   +1 more source

Zebrafish inversin mutants develop scoliosis in the absence of laterality defects

Developmental Dynamics, EarlyView.
Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick, Lorraine Eley, Deborah J. Henderson, Bill Chaudhry   +3 more
wiley   +1 more source

Developing nodes of Ranvier are defined by ankyrin-G clustering and are independent of paranodal axoglial adhesion [PDF]

Proceedings of the National Academy of Sciences, 2002
Nodes of Ranvier are excitable regions of axonal membranes highly enriched in voltage-gated sodium channels that propagate action potentials. The mechanism of protein clustering at nodes has been a source of controversy. In this study, developmental analysis of nodes of Ranvier in optic nerve axons reveals that early node ...
Scott M, Jenkins, Vann, Bennett
openaire   +2 more sources

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

Compensatory rearrangement of parvalbumin interneuron voltage‐gated sodium channel subunits in a mouse model of Dravet syndrome

Epilepsia, EarlyView.
Abstract Heterozygous loss‐of‐function variants in the gene SCN1A, which encodes the voltage‐gated sodium channel (VGSC) pore‐forming (α) subunit NaV1.1, lead to a spectrum of neurological disease, including Dravet syndrome. NaV1.1 is prominently expressed at the proximal portion of the axon initial segment (AIS) of fast‐spiking γ‐aminobutyric ...
Ania K. Dabrowski, Ala Somarowthu, Sophie R. Liebergall, Damaris N. Lorenzo, Ethan M. Goldberg   +4 more
wiley   +1 more source

Specific ion channels contribute to key elements of pathology during secondary degeneration following neurotrauma

BMC Neuroscience, 2017
Background Following partial injury to the central nervous system, cells beyond the initial injury site undergo secondary degeneration, exacerbating loss of neurons, compact myelin and function.
Ryan L. O’Hare Doig, Wissam Chiha, Marcus K. Giacci, Nathanael J. Yates, Carole A. Bartlett, Nicole M. Smith, Stuart I. Hodgetts, Alan R. Harvey, Melinda Fitzgerald   +8 more
doaj   +1 more source