Results 71 to 80 of about 1,820 (150)
Stem Cell ResearchALDH7A1 encodes for the enzyme catalyzing the third step of the lysine degradation pathway. Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine dependent epilepsy (PDE), of which the c.1279G>C (p.Glu427Gln) variant is the most ...
Imke M.E. Schuurmans +4 more
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A Case of Pyridoxine Dependent Epilepsy Presented with Status Epilepticus
Journal of Pediatric Emergency and Intensive Care Medicine, 2019 Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive encephalopathy due to mutations in the ALDH7A1 gene. Intractable seizures are the most frequent clinical form in the early infantile period.
Senem Ayça +3 more
doaj +1 more source
Pyridoxine Responsiveness and PNPO Gene Mutations
Pediatric Neurology Briefs, 2014 Investigators at University Hospital, Zurich, Switzerland, and multiple centers in Europe and Canada, sequenced the pyridoxal 5-phosphate oxidase (PNPO) gene in 31 patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin ...
J Gordon Millichap, John J Millichap
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 +4 more
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Treatment of pediatric epilepsy
Pediatric Investigation, EarlyView.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 +8 more
wiley +1 more source
Frontiers in Psychiatry, 2019 Pyridoxine (vitamin B6)-responsive epilepsies are severe forms of epilepsy that manifest as seizures immediately after birth, sometimes in utero, sometimes months, or years after birth.
Bjørnar Hassel +3 more
doaj +1 more source
Overall survival of pancreatic ductal adenocarcinoma is doubled by Aldh7a1 deletion in the KPC mouse
Theranostics, 2021 Rationale: The activity of aldehyde dehydrogenase 7A1 (ALDH7A1), an enzyme that catalyzes the lipid peroxidation of fatty aldehydes was found to be upregulated in pancreatic ductal adenocarcinoma (PDAC). ALDH7A1 knockdown significantly reduced tumor formation in PDAC. We raised a question how ALDH7A1 contributes to cancer progression.
Lee, Jae-Seon +11 more
openaire +2 more sources
The Genetic and Morphological Basis of Local Adaptation to Elevational Extremes in an Alpine Finch
Ecology and Evolution, Volume 16, Issue 2, February 2026.We investigated morphological and genetic variation in the Sierra Nevada Gray‐crowned Rosy Finch to identify traits important for local adaptation in alpine environments. By combining trait measurements with genome‐wide analyses, we uncovered loci linked to thermoregulation, altitude adaptation, and cold tolerance.
Erica C. N. Robertson +6 more
wiley +1 more source
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
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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 +13 more
wiley +1 more source