Results 61 to 70 of about 44,470 (243)

Integrative Genomic and Functional Investigation of the Multi‐Layered Genetic Architecture Between Anorexia Nervosa and Bone Loss

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Bone loss is a severe and often irreversible complication of anorexia nervosa (AN), yet the genetic mechanisms underlying this comorbidity remain underexplored. This study focuses on constructing a comprehensive genetic architecture between AN and estimated calcaneal bone mineral density (eBMD).
Tao Han, Yuke Wang, Yixiong Dang, Rong Xiang, Yan Zeng, Sheng He, Ye Ju, Zilan Chen, Ting Liu, Zihao Li, Yuqi Pang, Wanyi Tan, Jue Xu, Jingwen Jiang, Xia Jiang   +14 more
wiley   +1 more source

Epilepsy‐associated SCN2A‐L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids

Epilepsia, EarlyView.
Abstract Objective SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods Using a human male induced pluripotent stem
Maria I. Olivero‐Acosta, Morgan Robinson, Zhefu Que, Zaiyang Zhang, Karen V. Salazar‐Salazar, Hope Elizabeth Harlow, Vinayak Shankar, Seoyeon Hong, Muhan Wang, Conrad M. Otterbacher, Hina Kadono, Manasi Halurkar, Harish Kothandaraman, Nadia Atallah Lanman, Trang Nguyen, Kyle Wettschurack, Benjamin Zirkle, Layan Yunis, Ningren Cui, Xiaoling Chen, Jingliang Zhang, Jiaxiang Wu, William C. Skarnes, Chongli Yuan, Feng Guo, Megan Abbott, Yang Yang   +26 more
wiley   +1 more source

The best-laid plans go oft awry: synaptogenic growth factor signaling in neuropsychiatric disease

Frontiers in Synaptic Neuroscience, 2014
Growth factors play important roles in synapse formation. Mouse models of neuropsychiatric diseases suggest that defects in synaptogenic growth factors, their receptors, and signaling pathways can lead to disordered neural development and various ...
Aislinn Joanmarie Williams, Aislinn Joanmarie Williams, Hisashi eUmemori, Hisashi eUmemori   +3 more
doaj   +1 more source

New insights into epileptic spasm generation and treatment from the TTX animal model

Epilepsia Open, EarlyView.
Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann, Carlos J. Ballester‐Rosado, Chih‐Hong Lee   +2 more
wiley   +1 more source

Polarity Proteins in Axon Specification and Synaptogenesis [PDF]

, 2005
The neuron is a prime example of a highly polarized cell. It is becoming clear that conserved protein complexes, which have been shown to regulate polarity in such diverse systems as the C.
Wiggin, Giselle R., Pawson, Tony, Fawcett, James P.   +2 more
core   +1 more source

Neonatal seizures and GABAergic drugs: Scylla and Charybdis?

Epilepsia Open, EarlyView.
Abstract Neonates have a high incidence of seizures that are frequently difficult to control with conventional first‐line anti‐seizure medications, which are gamma‐aminobutyric acid (GABA) agonists. The reasons for this clinical problem are multifold but are likely related to the unique physiology of the immature nervous system. Specifically, the early
Kerry W. Thompson, Lucie Suchomelova, Claude G. Wasterlain   +2 more
wiley   +1 more source

Phytohormone Abscisic Acid Improves Spatial Memory and Synaptogenesis Involving NDR1/2 Kinase in Rats

Frontiers in Pharmacology, 2018
The abscisic acid (ABA) is a phytohormone involved in plant growth, development and environmental stress response. Recent study showed ABA can also be detected in other organisms, including mammals.
Juanjuan Liu, Xiaozhen Gu, Rongxin Zou, Wenping Nan, Shaohua Yang, Hui-Li Wang, Xiang-Tao Chen   +6 more
doaj   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Mechanisms of PTPσ-Mediated Presynaptic Differentiation

Frontiers in Synaptic Neuroscience, 2019
Formation of synapses between neurons depends in part on binding between axonal and dendritic cell surface synaptic organizing proteins, which recruit components of the developing presynaptic and postsynaptic specializations.
Claire Bomkamp, Nirmala Padmanabhan, Nirmala Padmanabhan, Nirmala Padmanabhan, Benyamin Karimi, Benyamin Karimi, Benyamin Karimi, Yuan Ge, Jesse T. Chao, Christopher J. R. Loewen, Tabrez J. Siddiqui, Tabrez J. Siddiqui, Tabrez J. Siddiqui, Ann Marie Craig   +13 more
doaj   +1 more source

Imaging Neuromuscular Synaptogenesis

, 2005
Successful synaptogenesis requires collaboration of cellular and molecular dynamics. Whereas synaptic matchmaking relies on cell-specific recognition molecules, subsequent synaptogenesis requires proteins that are common to a given synaptic type ...
Carrero-Martinez, Franklin Alexander
core