Results 101 to 110 of about 3,184 (187)

Frequently Identified Genetic Developmental and Epileptic Encephalopathy: A Review Focusing on Precision Medicine [PDF]

Annals of Child Neurology, 2019
In this article, we reviewed current knowledge regarding gene-specific therapies for some developmental and epileptic encephalopathy caused by genes with high diagnostic yields, and which are therefore, also more frequently encountered by physicians ...
Ara Ko, Hoon-Chul Kang
doaj   +1 more source

Strain Differences in Developmental Vulnerability to Alcohol Exposure Via Embryo Culture in Mice [PDF]

, 2011
Background Prenatal alcohol exposure can result in varying degrees of neurodevelopmental deficits, growth retardation, and facial dysmorphology. Variation in these adverse outcomes not only depends on the dose and pattern of alcohol exposure but also on
Chen, Yuanyuan, Goodlett, Charles R., Ni, Lijun, Ozturk, Nail Can, Zhou, Feng C.   +4 more
core   +2 more sources

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to alpha-aminoadipic semialdehyde dehydrogenase deficiency [PDF]

, 2020
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation.
Abdenur, Jose E., Ashmore, Catherine, Boemer, Francois, Bok, Levinus A., Boyer, Monica, Buhas, Daniela, Clayton, Peter T., Coughlin, Curtis R., Das, Anibh, Dekker, Hanka, Evangeliou, Athanasios, Feillet, Francois, Footitt, Emma J., Gospe, Sidney M., Hartmann, Hans, Kara, Majdi, Kristensen, Erle, Lee, Joy, Lilje, Rina, Longo, Nicola, Lunsing, Roelineke J., Mills, Philippa, Papadopoulou, Maria T., Pearl, Phillip L., Piazzon, Flavia, Plecko, Barbara, Saini, Arushi G., Santra, Saikat, Sjarif, Damayanti R., Stockler-Ipsiroglu, Sylvia, Striano, Pasquale, Tseng, Laura A., Van Hove, Johan L. K., van Karnebeek, Clara D. M., Verhoeven-Duif, Nanda M., Wijburg, Frits A., Zuberi, Sameer M.   +36 more
core   +1 more source

Engineered Multifunctional Hydrogel Delivering Novel CBX7 Inhibitor Modulates Cuproptosis Via Liquid–Liquid Phase Separation to Restore Cardiac Function in Aged Myocardial Infarction

Advanced Science, Volume 13, Issue 1, 5 January 2026.
An age‐adapted therapy pairs δ‐Amyrenone, a CBX7 inhibitor, with an alginate hydrogel (CSAδ) to rescue infarcted elderly hearts. CSAδ disrupts CBX7–ATP7A liquid–liquid phase separation, restores ATP7A trafficking and copper efflux, suppresses cuproptosis, supplies oxygen, scavenges ROS, promotes M2 polarization, supports angiogenesis, and enhances ...
Jun Liu, Peng Qu, Jiao Shi, Tingting Liang, Yao Gu, Xue Li, Cui Ma, Danyang Zhao, Feila Liu, Qi Liang, Panke Cheng, Qian Lei   +11 more
wiley   +1 more source

The genotypic and phenotypic spectrum of pyridoxine‐dependent epilepsy due to mutations in ALDH7A1 [PDF]

Journal of Inherited Metabolic Disease, 2010
AbstractPyridoxine‐dependent epilepsy is a disorder associated with severe seizures that may be caused by deficient activity of α‐aminoadipic semialdehyde dehydrogenase, encoded by the ALDH7A1 gene, with accumulation of α‐aminoadipic semialdehyde and piperideine‐6‐carboxylic acid.
Gunter, Scharer, Chad, Brocker, Vasilis, Vasiliou, Geralyn, Creadon-Swindell, Renata C, Gallagher, Elaine, Spector, Johan L K, Van Hove   +6 more
openaire   +2 more sources

A proteomic profiling of laser-microdissected lung adenocarcinoma cells of early lepidic-types [PDF]

, 2015
BACKGROUND: In the new pathologic classification of lung adenocarcinoma proposed by IASLC/ATS/ERS in 2011, lepidic type adenocarcinomas are constituted by three subtypes; adenocarcinoma in situ (AIS), minimally invasive adenocarcinoma (MIA) and lepidic ...
György Marko-Varga, Harubumi Kato, Haruhiko Nakamura, Hiromasa Tojo, Masaharu Nomura, Norihiko Ikeda, Takeshi Kawamura, Tatsuhiko Kodama, Tatsuo Ohira, Thomas Fehniger, Toshihide Nishimura, Toshitaka Nagao, Yasufumi Kato   +12 more
core   +1 more source

Complementary Muscle Metabolomics and Proteomics of Muscle in Cows With Post‐Calving Ketosis

Journal of Veterinary Internal Medicine, Volume 39, Issue 6, November/December 2025.
ABSTRACT Background The muscle tissue of dairy cows is a site of β‐hydroxybutyrate (BHBA) metabolism. The mechanisms underlying the changes in proteins and metabolites in the muscle tissue of cows with ketosis remain unclear. Objectives To elucidate the metabolic and physiological molecular adaptation mechanisms in the muscle tissue of cows with ...
Tao Tang, Jing Zhou, Jiahao Shao, Meigui Wang, Siqi Xia, Wenqiang Sun, Xianbo Jia, Jie Wang, Songjia Lai   +8 more
wiley   +1 more source

Potential impact of primate‐specific SVA retrotransposons during the evolution of human cognitive function. [PDF]

, 2017
The SVA family of hominid-specific non-LTR retrotransposon comprises the youngest group of transposable elements in the human genome. The propagation of the most ancient SVA subfamily took place about 13.5 million years ago, and the youngest SVA ...
Bubb, VJ, Cetiner, S, Quinn, JP, Savage, A, Schumann, GG, Vasieva, O   +5 more
core   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

Messenger RNA profile analysis deciphers new Esrrb responsive genes in prostate cancer cells [PDF]

, 2015
Additional file 2: Table S1.  Gene ontology analysis result. Table S2. Esrrb expression with DY131 treatment (control vs. Esrrb + DY131)
Dennis B. Lubahn, Jianlin Cheng, Jilong Li, Yuan Lu   +3 more
core   +3 more sources