Results 91 to 100 of about 2,219 (171)

Primers required for the amplification of the human ALDH7A1 gene.

, 2014
Primers required for the amplification of the human ALDH7A1 gene.
Xiaoling Yang (27940), Yuwu Jiang (330637), Zhixian Yang (541835), Yuehua Zhang (541836), Hui Xiong (541837), Ye Wu (171928), Jiong Qin (541838), Jingmin Wang (171933)   +7 more
core   +1 more source

The Intersection of m6A Methylation and Immune Response in PCOS: A Bioinformatics Perspective

Immunity, Inflammation and Disease, Volume 14, Issue 2, February 2026.
N6‐methyladenosine RNA methylation regulators are intricately linked with the development of polycystic ovary syndrome (PCOS) and may influence immune cell infiltration in affected individuals. This study enhances our understanding of the molecular interactions in PCOS and suggests potential biomarkers for diagnosis and targets for therapeutic ...
Wenting Xu, Lingli Shi, Aifang Lu, Lijuan Cui, Haiqing Qian, Jiahui Wang, Mengyu Tang, Lili Zhu, Lihong Wang   +8 more
wiley   +1 more source

Treatment of pediatric epilepsy

Pediatric Investigation, Volume 10, Issue 1, Page 86-100, February 2026.
Anti‐seizure medications are the first‐line treatment for the vast majority of children with epilepsy, with the advantages of non‐invasive wide adaptability. Surgery is the main treatment for drug‐resistant epilepsy and lesion‐related epilepsy, which can cure some cases of epilepsy in children. A ketogenic diet is often an add‐on therapy.
Junxiao Li, Tinghong Liu, Chang Liu, Jie Deng, Shijie Wu, Suhui Kuang, Xiaotong Li, Zhirong Wei, Shuli Liang   +8 more
wiley   +1 more source

Evolutionary conservation of four novel ALDH7A1 missense mutations identified in Chinese PDE patients.

, 2014
Evolutionary conservation of four novel ALDH7A1 missense mutations identified in Chinese PDE patients.
Xiaoling Yang (27940), Yuwu Jiang (330637), Zhixian Yang (541835), Yuehua Zhang (541836), Hui Xiong (541837), Ye Wu (171928), Jiong Qin (541838), Jingmin Wang (171933)   +7 more
core   +1 more source

Tumor Cell‐Derived CXCL2 Potentiates Neutrophil‐Mediated Antitumor Immunity by Inhibiting Cholesterol Biosynthesis in Hepatocellular Carcinoma

Advanced Science, Volume 13, Issue 2, 9 January 2026.
This study identifies the unconventional role of CXCL2 in regulating neutrophil polarization and immune responses in HCC. Unlike the common view that CXCL2 acts mainly as an extracellular chemokine, intracellular CXCL2 can interact with YBX1 and prevent its nuclear translocation.
Xin Liu, Danli Yang, Qianqian Jiang, Meng Han, Zhao Zhou, Yukun Li, Yu Wu, Jingzhou Wang, Ting Zhang, Guohua Lou, Guochao Wei, Lin Wang, Fengmin Lu, Xiangmei Chen   +13 more
wiley   +1 more source

Epilepsia dependiente de piridoxina en paciente homocigoto para ALDH7A1 C.1093+1G>A

, 2023
Introduction: Neonatal seizures represent a neurological emergency and can be the initial manifestation of a rare and severe neurological disorder such as pyridoxine-dependent epilepsy, caused by a compound pathogenic variant in the ALDH7A1 gene, located
Palma-Montero, María Alejandra, Burbano-Dorado, Lina Daiana, García-Chaves, María Andrea, Miño-Arango, María Eugenia   +3 more
core   +1 more source

Metabolomics analysis of kidney, brain, liver, and plasma from Aldh7a1-/- and Aldh7a1+/+ mice.

Metabolite analysis of kidney, brain, liver, and plasma isolated from Aldh7a1+/+ and Aldh7a1-/- (n=3/each) fed diets consisting of 0.9% w/w lysine and 18 ppm pyridoxine.
Parker, S (via Mendeley Data)
core   +1 more source

Dietary management for pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency, a follow‐on from the international consortium guidelines

JIMD Reports
Pyridoxine‐dependent epilepsy (PDE‐ALDH7A1) is a neurometabolic disorder in the lysine metabolism pathway. In 2014 and 2021, the International PDE consortium published consensus guidelines about diagnosis and management.
Marjorie Dixon, Chloe Millington, Laurie Bernstein, Curtis R. Coughlin II, Morgan Drumm, Sommer Gaughan, Clara D. M. vanKarnebeek, Annemiek M. J. vanWegberg   +7 more
doaj   +1 more source

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

Molecular Genetics and Metabolism Reports, 2016
We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative ...
B. Jaeger, N.G. Abeling, G.S. Salomons, E.A. Struys, M. Simas-Mendes, V.G. Geukers, B.T. Poll-The   +6 more
doaj   +1 more source

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) [PDF]

, 2017
Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-α-aminoadipic semialdehyde/l-Δ1 ...
Tuschl, Karin, Craigen, William J., De Lonlay, Pascale, Clayton, Peter T., Hemingway, Cheryl, Feillet, François, Marlow, Neil, Mills, Philippa B., Mills, Kevin A., Baxter, Peter, Pike, Mike G., Footitt, Emma J., Aylett, Sarah, Struys, Eduard A., Dulac, Olivier, Schmitt, Bernhard, Varadkar, Sophia, Rennie, Janet, Christensen, Ernst, Hughes, M. Imelda, Nabbout, Rima, Jakobs, Cornelis, Zuberi, Sameer M.   +22 more
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