Results 121 to 130 of about 53,278 (329)

Cortical Somatostatin Neurons Regulate Seizure Susceptibility via MINAR1/Gαs–cAMP Signaling

Advanced Science, EarlyView.
Our study identifies MINAR1 as a novel regulator of cortical interneuron excitability and seizure susceptibility. MINAR1 is preferentially expressed in SST+ interneurons. Genetic ablation of MINAR1 leads to seizure hypersensitivity, reduced SST+ neuron excitability, and impaired Gαs–cAMP signaling, disrupting the E/I balance.
Wei‐Tang Liu, Zhi‐Bin Hu, Ling Hu, Yu‐Bing Wang, Qiong Zhang, Ning‐Ning Song, Xi‐Yue Liu, Jia‐Yin Chen, Hong‐Wen Zhu, Bing‐Yao Zhou, Yun‐Chao Tao, Li Zhao, Ze‐Xuan Li, Yi‐Wei Li, Jia‐Qi Chen, Si‐Xin Tu, Cong‐Cong Qi, Sai‐Dan Ding, Gang Peng, Lin Xu, Yu‐Qiang Ding   +20 more
wiley   +1 more source

Distinct Biotypes of Visual Perception in Major Depressive Disorder

Advanced Science, EarlyView.
In a discover dataset (272 acute MDD patients), this work identifies a novel depression biotype characterized by impaired visual motion perception, using machine learning clustering. An independent dataset confirms the robustness of this biotype through cross‐validation and demonstrates its generalizability.
Zhuoran Cai, Xi‐Wen Hu, Yuyang Li, Zheng Lin, Yongjie Li, Yong‐Chun Cai, Tao Xu, Ke Jia, Jin‐Fang Han, Zhong‐Lin Tan, Dezhong Yao, Xue Mei Song, Sugai Liang, Georg Northoff   +13 more
wiley   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

The causal relationship of DTI phenotypes and epilepsy: A two sample mendelian randomization study

Epilepsia Open
Objective Clinical studies indicated a link between DTI imaging characteristics and epilepsy, but the causality of this connection had not been established.
Shang Feng, Shaobin Huang, Zhiguo Lin
doaj   +1 more source

Molecular genetics of epilepsy: A clinician's perspective

Annals of Indian Academy of Neurology, 2017
Epilepsy is a common neurological problem, and there is a genetic basis in almost 50% of people with epilepsy. The diagnosis of genetic epilepsies makes the patient assured of the reasons of his/her seizures and avoids unnecessary, expensive, and ...
Vikas Dhiman
doaj   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Segregation of seizure traits in C57 black mouse substrains using the repeated-flurothyl model.

PLoS ONE, 2014
Identifying the genetic basis of epilepsy in humans is difficult due to its complexity, thereby underlying the need for preclinical models with specific aspects of seizure susceptibility that are tractable to genetic analyses.
Sridhar B Kadiyala, Dominick Papandrea, Bruce J Herron, Russell J Ferland   +3 more
doaj   +1 more source

Generalized, focal, and combined epilepsies in families: New evidence for distinct genetic factors [PDF]

, 2020
Colin A. Ellis, Ruth Ottman, Michael P. Epstein, Samuel F. Berkovic   +3 more
openalex   +1 more source

Characteristics of Epileptiform Discharge Duration and Interdischarge Interval in Genetic Generalized Epilepsies [PDF]

, 2018
Udaya Seneviratne, Ray Boston, Mark Cook, Wendyl D’Souza   +3 more
openalex   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source