Results 61 to 70 of about 18,157 (223)

Clock gene dysregulation in epilepsy: A systematic review

Epilepsia Open, EarlyView.
Abstract Objective Epileptic seizures show a rhythmic pattern, being more frequent at particular times of the day (e.g., only occurring during sleep), suggesting a role of the circadian rhythm. Clock genes regulate the circadian rhythm and might be involved in the pathophysiology of epilepsy.
Guilherme Fernandes‐Campos, Arjune Sen, Francesca Panin, Krithika Sundararaman   +3 more
wiley   +1 more source

Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex

Human Genomics, 2023
Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that is associated with neurological symptoms, including autism spectrum disorder.
Hirofumi Kashii, Shinya Kasai, Atsushi Sato, Yoko Hagino, Yasumasa Nishito, Toshiyuki Kobayashi, Okio Hino, Masashi Mizuguchi, Kazutaka Ikeda   +8 more
doaj   +1 more source

Loss of TSC1 in secondary angiosarcoma of the breast

Clinical Case Reports, 2023
Key Clinical MessagePost‐radiation angiosarcoma of the breast is a rare complication associated with a poor prognosis. This case reports the first loss of function mutation in TSC1 in breast radiation‐induced angiosarcoma and illustrates the utility of evaluating these markers to identify potential therapeutic targets.AbstractPost‐radiation ...
Lucy Rose, Nicci Owusu‐Brackett, Stephen Moore, Bridget Oppong   +3 more
openaire   +3 more sources

Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self‐limited infantile epilepsy by trios whole‐exome sequencing

Epilepsia Open, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) and self‐limited infantile epilepsy (SeLIE) are both genetically heterogeneous disorders during infancy with distinct prognoses. To better define the genetic spectrum of IESS, we performed a comparative genetic analysis using SeLIE cases as a reference group. Methods We performed whole‐exome
Yihong Sun, Ningning Chen, Congjie Chen, Weitian Lu, Qian Wan, Tingsong Li, Yupeng Cun   +6 more
wiley   +1 more source

Differential Expression of MicroRNA-19b Promotes Proliferation of Cancer Stem Cells by Regulating the TSC1/mTOR Signaling Pathway in Multiple Myeloma

Cellular Physiology and Biochemistry, 2018
Background/Aims: MiR-19b has been reported to be involved in several malignancies, but its role in multiple myeloma (MM) is still unknown. The objective of this study was to explore the biological mechanism of miR-19b in the progression of MM.
Ni Wang, Xiaohua Liang, Weijian Yu, Shihang Zhou, Meiyun  Fang   +4 more
doaj   +1 more source

Genomic signature driving preinvasive to invasive processes in stage I lung adenocarcinoma

International Journal of Cancer, EarlyView.
What's New? The progression of lung cancer from minimally invasive adenocarcinoma (MIA) to invasive adenocarcinoma (IA) is a complex process involving molecular and microenvironment changes. Key molecular events that drive the invasion process, however, remain poorly characterized. In this comparison of gene profiles and differentially mutated genes in
Biqin Mou, Yishan Duan, Jing Wang, Tiantian Li, Yuwei Huo, Xia Xiao, Conghui Cui, Zhujun Deng, Qiongxia Hu, Juan Jiang, Yiwei Liang, Sifen Lu, Xintong Tao, Kang Xie, Xinru Xiong, Niu Zhu, Liyun Bi, Faqiang Zhang, Weimin Li, Bojiang Chen   +19 more
wiley   +1 more source

Epigenetic Regulation in the Pathogenesis of Renal Inflammation: Insights and Therapeutic Potentials

iNew Medicine, EarlyView.
ABSTRACT Renal inflammation is a common pathological process in various kidney diseases, often initiated by factors such as toxins, ischemia, or autoimmune reactions. This inflammatory response can result in structural damage and a rapid decline in renal function.
Yu‐Hang Dong, Xiao‐Yu Shen, Han‐Cheng Jin, Xiang‐Yu Li, Hao He, Xiao‐Ming Meng   +5 more
wiley   +1 more source

Youngest known case of a pancreatic perivascular epithelioid cell tumor

JPGN Reports, EarlyView.
Abstract Perivascular epithelioid cell tumors (PEComas) are a rare type of mesenchymal tumor that can arise in any part of the body. As of 2024, 37 cases of pancreatic PEComas had been reported in the literature with patients ranging in age from 17 to 74 years old.
Laura Gilligan, Wesley C. Judy, Bryan Clary, Timothy Fairbanks, Denise Malicki, Tom K. Lin   +5 more
wiley   +1 more source

Loss of mTOR repressors Tsc1 or Pten has divergent effects on excitatory and inhibitory synaptic transmission in single hippocampal neuron cultures.

Frontiers in Molecular Neuroscience, 2014
The Pten and Tsc1 genes both encode proteins that repress mechanistic target of rapamycin (mTOR) signaling. Disruption of either gene in the brain results in epilepsy and autism-like symptoms in humans and mouse models, therefore it is important to ...
Matthew C Weston, Hongmei eChen, John W Swann   +2 more
doaj   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source