Results 81 to 90 of about 3,184 (187)

Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With ALDH7A1 Deficiency

Frontiers in Genetics, 2021
ObjectiveTo describe the clinical characteristics of 12 patients from six families with pyridoxine-dependent epilepsy (PDE) carrying ALDH7A1 mutations, and analyze the impact of early diagnosis and treatment, as well as possible genotype–phenotype ...
Xianru Jiao, Pan Gong, Ye Wu, Yuehua Zhang, Zhixian Yang   +4 more
doaj   +1 more source

Genome annotation for clinical genomic diagnostics: strengths and weaknesses [PDF]

, 2017
The Human Genome Project and advances in DNA sequencing technologies have revolutionized the identification of genetic disorders through the use of clinical exome sequencing.
Frankish, A, Harrow, J, Minassian, BA, Parker, APJ, Sisodiya, SM, Steward, CA   +5 more
core   +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, Lee, Ho, Woo, Sang Myung, Jang, Hyonchol, Jeon, Yoon, Kim, Hee Yeon, Song, Jaewhan, Lee, Woo Jin, Hong, Eun Kyung, Park, Sang-Jae, Han, Sung-Sik, Kim, Soo-Youl   +11 more
openaire   +2 more sources

Blood DNA methylation signature of cognitive reserve moderates the association between CSF tau pathology and memory in prodromal Alzheimer's disease

Alzheimer's &Dementia: Translational Research &Clinical Interventions, Volume 12, Issue 2, April/June 2026.
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, Juan I. Young, Lissette Gomez, Brian W. Kunkle, Zhixin Mao, Wei Zhang, X. Steven Chen, Deirdre M. O'Shea, Tatjana Rundek, Eden R. Martin, Lily Wang, for the Alzheimer's Disease Neuroimaging Initiative   +11 more
wiley   +1 more source

The ALDH7A1 genetic polymorphisms contribute to development of esophageal squamous cell carcinoma

Tumor Biology, 2014
Although the entire etiology of esophageal squamous cell carcinoma (ESCC) is still unclear, alcohol drinking has been identified as a major environmental risk factor. The aldehyde dehydrogenase (ALDH) superfamily members are major enzymes involved in the alcohol-metabolizing pathways.
Haiyong, Wang, Lei, Tong, Jinyu, Wei, Wenting, Pan, Lichao, Li, Yunxia, Ge, Liqing, Zhou, Qipeng, Yuan, Changchun, Zhou, Ming, Yang   +9 more
openaire   +2 more sources

Efferocytosis‐Driven Polyamine Metabolism in Macrophages Enhances Cancer Stem Cell Enrichment after Chemotherapy in Ovarian Cancer

Advanced Science, Volume 13, Issue 8, 9 February 2026.
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, Feiquan Ying, Xinkai Pang, Qiulei Wu, Guoqing Li, Lin Huang, Jiayu Xin, Xiaoli Liu, Pan Liu, Xiaohan Xu, Shuran Tan, Yumei Gao, Tong Liu, Si Sun, Xiaoman Wang, Yiping Wen, Liqiong Cai, Shi Du, Yuan Zhang, Jing Cai   +19 more
wiley   +1 more source

Classical and Emerging Biomarkers in Pyridoxine-Dependent Epilepsy (PDE-ALDH7A1): Implications for Early Diagnosis and Therapeutic Development

Biomolecules
Pyridoxine-dependent epilepsy due to ALDH7A1 deficiency (PDE-ALDH7A1) is a rare but treatable epileptic encephalopathy caused by disruption of lysine catabolism and secondary depletion of pyridoxal-5′-phosphate (PLP).
Muna Abedrabbo, Safiya Al Yazeedi, Blair R. Leavitt, Hilal Al-Shekaili   +3 more
doaj   +1 more source

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

Characterization of Two Distinct Structural Classes of Selective Aldehyde Dehydrogenase 1A1 Inhibitors. [PDF]

, 2015
Aldehyde dehydrogenases (ALDH) catalyze the irreversible oxidation of aldehydes to their corresponding carboxylic acid. Alterations in ALDH1A1 activity are associated with such diverse diseases as cancer, Parkinson?s disease, obesity, and cataracts ...
Hurley, Thomas D., Morgan, Cynthia A.
core   +1 more source

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, Timothy M. Brown, Sophie Deitch, Christin M. Bossu, Mevin B. Hooten, Erika S. Zavaleta, Kristen C. Ruegg   +6 more
wiley   +1 more source