Results 71 to 80 of about 1,834 (152)
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 +4 more
doaj +1 more source
Abstract INTRODUCTION Cognitive reserve (CR) reflects variability in cognitive adaptability that modifies the impact of Alzheimer's disease (AD) pathology on cognition. However, blood‐based biomarkers of CR have not been established in prodromal AD.
David Lukacsovich +11 more
wiley +1 more source
Pyridoxine Responsiveness and PNPO Gene Mutations
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
Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy
Pyridoxine dependent epilepsy (PDE) (OMIM#266100) is a neonatal form of epilepsy, caused by dysfunction of the enzyme α-aminoadipic semialdehyde dehydrogenase (ALDH7A1 or Antiquitin). This enzyme converts α-aminoadipic semialdehyde (α-AASA) into α-aminoadipate (AAA), a critical step in the lysine metabolism of the brain.
Emanuele G, Coci +7 more
openaire +2 more sources
Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity [PDF]
Mammalian aldehyde dehydrogenase 7A1 (ALDH7A1) is homologous to plant ALDH7B1 which protects against various forms of stress such as increased salinity, dehydration and treatment with oxidants or pesticides. Deleterious mutations in human ALDH7A1 are responsible for pyridoxine-dependent and folinic acid-responsive seizures. In previous studies, we have
BROCKER C +3 more
openaire +3 more sources
Chemotherapy‐induced efferocytosis drives ovarian cancer stem cell enrichment. By engulfing apoptotic cancer cells, macrophages upregulate ODC1 and produce putrescine, which elevates osteopontin (OPN) expression. Secreted OPN then activates the CD44 receptor on cancer cells, promoting stemness and chemoresistance.
Wenhan Li +19 more
wiley +1 more source
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
The Genetic and Morphological Basis of Local Adaptation to Elevational Extremes in an Alpine Finch
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
The Intersection of m6A Methylation and Immune Response in PCOS: A Bioinformatics Perspective
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 +8 more
wiley +1 more source
Frequently Identified Genetic Developmental and Epileptic Encephalopathy: A Review Focusing on Precision Medicine [PDF]
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

