Results 31 to 40 of about 2,694,828 (149)

A glycolysis-based three-gene signature predicts survival in patients with lung squamous cell carcinoma

BMC Cancer, 2021
Background Lung cancer is one of the most lethal and most prevalent malignant tumors worldwide, and lung squamous cell carcinoma (LUSC) is one of the major histological subtypes.
Guichuan Huang, Jing Zhang, Ling Gong, Yi Huang, Daishun Liu   +4 more
doaj   +1 more source

A Comparison of RNA Interference via Injection and Feeding in Honey Bees

Insects, 2022
RNA interference (RNAi) has been used successfully to reduce target gene expression and induce specific phenotypes in several species. It has proved useful as a tool to investigate gene function and has the potential to manage pest populations and reduce
Yong Zhang, Zhen Li, Zi-Long Wang, Li-Zhen Zhang, Zhi-Jiang Zeng   +4 more
doaj   +1 more source

An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1). [PDF]

, 2007
Recently, alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase deficiency was shown to cause pyridoxine-dependent epilepsy in a considerable number of patients.
Willemsen, M.A.A.P., Clayton, P.T., Mills, P.B., Jakobs, C., Bok, L.A., Salomons, G.S., Struys, E.A., Pope, L.L., Darmin, P.S.   +8 more
core   +1 more source

Compound Heterozygous ALDH7A1 Mutation Causes the Hemi-Allelic Expression in a Patient with Pyridoxine-Dependent Epilepsy

Tokyo Women's Medical University Journal, 2019
Pyridoxine-dependent epilepsy (PDE) is an inherited disease with an autosomal recessive trait caused by deficiency of α-amino-adipic semialdehyde (AASA) dehydrogenase encoded by the ALDH7A1 gene.
Tomoe Yanagishita, Keiko Yamamoto-Shimojima, Takayoshi Koike, Hirosato Nasu, Yukitoshi Takahashi, Tomoyuki Akiyama, Satoru Nagata, Toshiyuki Yamamoto   +7 more
doaj   +1 more source

Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player? [PDF]

J Neurosci Res
Astrocytes contribute to the pathophysiology of acquired epilepsy. However, less is known about their contribution to genetic epilepsy syndromes which often exhibit frequent comorbidity with neurodevelopmental and psychiatric disorders. Epileptic seizures are also frequently present in neurodevelopmental disorders.
Lange J, Zhao E, O'Connell E, Gillham O, McTague A.   +4 more
europepmc   +2 more sources

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

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy [PDF]

, 2021
Background. Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an inborn error of lysine catabolism that presents with refractory epilepsy in newborns. Biallelic ALDH7A1 variants lead to deficiency of α-aminoadipic semialdehyde dehydrogenase/ antiquitin ...
Huigen, Marleen C. D. G., Mercimek-Andrews, Saadet, Coene, Karlien Lm, Willemsen, Michel Aap, Engelke, Udo F. H., Merx, Jona, Martens, Jonathan, Rutjes, Floris P. J. T., Kluijtmans, Leo Aj, van Geenen, Fred Amg, Kulkarni, Purva, de Vrieze, Erik, Mecinović, Jasmin; id_orcid, Gospe, Sidney M, Hyland, Keith, Struys, Eduard A., van Outersterp, Rianne E, van Geenen, Fred A. M. G., Tseng, Laura A., Wevers, Ron A., van Outersterp, Rianne E., Bok, Levinus A, Broekman, Sanne, Leavitt, Blair R., Bok, Levinus A., Boltje, Thomas J., Al-Shekaili, Hilal H, van Wijk, Erwin, Coene, Karlien L. M., Kluijtmans, Leo A. J., van Rooij, Arno, Wevers, Ron A, Leavitt, Blair R, Al-Shekaili, Hilal H., Gospe, Sidney M., Mecinović, Jasmin, Rutjes, Floris Pjt, Peters, Tessa M. A., Boltje, Thomas J, van Karnebeek, Clara D. M., Struys, Eduard A, Tseng, Laura A, Willemsen, Michel A. A. P., Peters, Tessa Ma, Van Karnebeek, Clara Dm, Berden, Giel, Huigen, Marleen Cdg, Jansen, Laura A, Engelke, Udo Fg, Oomens, Jos, Jansen, Laura A.   +50 more
core   +3 more sources

Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures

Brain Sciences, 2021
Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive neurometabolic disorder due to a deficiency of α-aminoadipic semialdehyde dehydrogenase (mutation in ALDH7A1 gene), more commonly known as antiquitin (ATQ).
Konrad Kaminiów, Magdalena Pająk, Renata Pająk, Justyna Paprocka   +3 more
doaj   +1 more source

GABA pathway metabolites of Patient 2 and Patient 3 with PDE-ALDH7A1.

, 2021
GABA pathway metabolites of Patient 2 and Patient 3 with PDE-ALDH7A1.
Anastasia Minenkova (11408438), Rob Barto (11408447), Saadet Mercimek-Andrews (4526929), Thomas Hurd (11408450), Erwin E. W. Jansen (11408441), Jessie Cameron (11408444), Gajja S. Salomons (4526917), Lauren MacNeil (397730)   +7 more
core   +1 more source

Identification of a glycolysis‐related gene signature associated with clinical outcome for patients with lung squamous cell carcinoma

Cancer Medicine, 2021
Background Lung squamous cell carcinoma (LUSC), one of the main types of lung cancer, has caused a huge social burden. There has been no significant progress in its therapy in recent years, Resulting in a poor prognosis.
Ziming Xu, Shiwei Zhang, Fulai Nian, Shangyu Xu   +3 more
doaj   +1 more source