aldh7a1 regulates eye and limb development in zebrafish. [PDF]
PLoS ONE, 2014 Uveal coloboma is a potentially blinding congenital ocular malformation caused by failure of the optic fissure to close during development. Although mutations in numerous genes have been described, these account for a minority of cases, complicating ...
Holly E Babcock +7 more
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Эпилепсия и пароксизмальные состояния, 2019 The article presents a clinical case of severe infantile generalized idiopathic epilepsy with status-like seizures, muscular dystonia and developmental delay.
T. V. Kozhanova +6 more
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ALDH7A1 Deficiency and Pyridoxine-Dependent Epilepsy
Pediatric Neurology Briefs, 2010 Researchers at University College and Great Ormond Street Hospital for Children, London, and other centers in the UK and Europe investigated the genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (PDE) by measurement of urinary alpha ...
J Gordon Millichap
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Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis. [PDF]
PLoS Genetics, 2010 Osteoporosis is a major public health problem. It is mainly characterized by low bone mineral density (BMD) and/or low-trauma osteoporotic fractures (OF), both of which have strong genetic determination.
Yan Guo +32 more
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Metabolic control of PPAR activity by aldehyde dehydrogenase regulates invasive cell behavior and predicts survival in hepatocellular and renal clear cell carcinoma [PDF]
BMC Cancer, 2018 Background Changes in cellular metabolism are now recognized as potential drivers of cancer development, rather than as secondary consequences of disease.
Diana Andrejeva +7 more
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Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants. [PDF]
PLoS ONE, 2014 Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that causes seizures in neonates and infants. Mutations of the ALDH7A1 gene are now recognized as the molecular basis PDE and help to define this disease.
Zhixian Yang +7 more
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Molecular Genetics and Metabolism Reports, 2014 Pyridoxine dependent epilepsy (PDE) is caused by mutations in the ALDH7A1 gene (PDE-ALDH7A1) encoding α-aminoadipic-semialdehyde-dehydrogenase enzyme in the lysine catabolic pathway resulting in an accumulation of α-aminoadipic-acid-semialdehyde (α-AASA).
Saadet Mercimek-Mahmutoglu +6 more
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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
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Integrative multi-omics analyses identify PKD1 and SLC2A4 as genetically supported glycolysis-related candidate genes for rheumatoid arthritis [PDF]
Frontiers in ImmunologyIntroductionGlycolytic reprogramming has been implicated in rheumatoid arthritis (RA) pathogenesis, yet the underlying causal genes and epigenetic mechanisms remain unclear.
Xinyu A +24 more
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A Genome-Wide Association Study of Rib Number and Thoracolumbar Vertebra Number in a Landrace × Yorkshire Crossbred Pig Population [PDF]
BiologyThe number of thoracolumbar vertebrae (NTLV) and the number of ribs (NR) are economically important traits in pigs due to their influence on carcass length and meat yield. Although VRTN is an established key gene, it fails to fully account for population-
Chunyan Bai +9 more
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