Results 161 to 170 of about 12,361,119 (285)

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

Interpretable Machine Learning for Predicting Suboptimal 12-Month Growth Response to Recombinant Human Growth Hormone in Children with Idiopathic Short Stature: A Dual-Center External Validation Study. [PDF]

Diagnostics (Basel)
Yang C, Shao Y, Jiang C, Zhang R, Wang J, Chen X, Zeng Y, An Q, Peng N, Wang X, Zhou B, Wang J, Wang L.   +12 more
europepmc   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

The relationship between pituitary size and the response to recombinant human growth hormone therapy in children with isolated growth hormone deficiency. [PDF]

Front Endocrinol (Lausanne)
Köprülü Ö, Coşkun M, Çelik E, Erbaş İM, Nalbantoğlu Ö, Korkmaz HA, Özkan B.   +6 more
europepmc   +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

Accumulated safety data of recombinant human growth hormone therapy in Korean children over a 10-year period: interim results from the LG Growth Study. [PDF]

Endocr Connect
Kim YM, Rhie YJ, Chae HW, Kim J, Lee YA, Lee HS, Hong YH, Kim JH, Ahn MB, Jeon Y, Shin CH.   +10 more
europepmc   +1 more source

Affinity chromatographic purification of recombinant human growth hormone

, 2008
The purpose of the study is to purify human growth hormone from the fermentation broth by affinity chromatography. For this purpose, human growth hormone specific oligonucleotide aptamers are selected among an aptamer library; selected oligonucleotides ...
OĞUZ BALCI
core  

LXRα and PPARα Mediated Hepatic Lipid Metabolic Disruption Induced by the UV Filter EHMC in 2D and 3D HepaRG Cell Models

Food Safety and Health, EarlyView.
Dietary UV filter EHMC induces hepatic steatosis in HepaRG cells at noncytotoxic concentrations. Mechanistically, EHMC binds nuclear receptors (LXRα, PPARα), upregulating SREBP‐1 to accelerate fatty acid synthesis. These findings highlight the potential metabolic toxicity of widespread EHMC exposure through food sources.
Shanglin Yang, Na Li, Yingnan Han, Mei Ma   +3 more
wiley   +1 more source

Children with craniopharyngioma resection had better response to recombinant human growth hormone therapy than those with idiopathic short stature. [PDF]

Front Endocrinol (Lausanne)
Li T, Li C, Wang X, Nie M, Wu X, Mao J.
europepmc   +1 more source

Food Safety Management and Mycotoxins Nexus: A Systematic Review of Mycotoxins Toxicity, Detoxification, Nutritional Impacts, and Economic Importance

Food Safety and Health, EarlyView.
The graphical abstract illustrates the interconnected relationship between food safety management, mycotoxin toxicity, and detoxification strategies, highlighting how preventive measures across the food chain can minimize mycotoxin contamination and reduce adverse health effects in humans/animals.
Chinaza Godswill Awuchi
wiley   +1 more source