Results 81 to 90 of about 2,694,828 (149)

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
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SIGNIFICANCE OF TARGETED EXOME SEQUENCING AND METHODS OF DATA ANALYSIS IN THE DIAGNOSIS OF GENETIC DISORDERS LEADING TO THE DEVELOPMENT OF EPILEPTIC ENCEPHALOPATHY

Journal of Bioinformatics and Genomics, 2017
Epilepsy is the most common serious neurological disorder, and there is a genetic basis in almost 50% of people with epilepsy. The diagnosis of genetic epilepsies makes to estimate reasons of seizures in the patient.
Tatyana Victorovna Kozhanova
doaj   +1 more source

Cancer stem cell-related gene expression as a potential biomarker of response for first-in-class imipridone ONC201 in solid tumors.

PLoS ONE, 2017
Cancer stem cells (CSCs) correlate with recurrence, metastasis and poor survival in clinical studies. Encouraging results from clinical trials of CSC inhibitors have further validated CSCs as therapeutic targets. ONC201 is a first-in-class small molecule
Varun V Prabhu, Amriti R Lulla, Neel S Madhukar, Marie D Ralff, Dan Zhao, Christina Leah B Kline, A Pieter J Van den Heuvel, Avital Lev, Mathew J Garnett, Ultan McDermott, Cyril H Benes, Tracy T Batchelor, Andrew S Chi, Olivier Elemento, Joshua E Allen, Wafik S El-Deiry   +15 more
doaj   +1 more source

Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for bone fragility

eLife
Heritable fragile bone disorders (FBDs), ranging from multifactorial to rare monogenic conditions, are characterized by an elevated fracture risk. Validating causative genes and understanding their mechanisms remain challenging.
Sophie Debaenst, Tamara Jarayseh, Hanna De Saffel, Jan Willem Bek, Matthieu Boone, Ivan Josipovic, Pierre Kibleur, Ronald Y Kwon, Paul J Coucke, Andy Willaert   +9 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
core  

Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

, 2006
Contains fulltext : 50019.pdf (Publisher’s version ) (Open Access)We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of ...
Uhlenberg, B., Michèl A A P Willemsen, Struys, Eduard, Clayton, Peter T., Mills, P.B., Baumgartner, M., Plecko, B., Birgit Uhlenberg, Matthias Baumgartner, Willemsen, M.A.A.P., Bernhard Weschke, Uta Tacke, Tacke, Uta, Omran, H., Willemsen, Michèl A A P, Jakobs, Cornelis, Eduard Struys, Omran, Heymut, Weschke, B., Uhlenberg, Birgit, Baumgartner, Matthias R; https://orcid.org/, Baumgartner, Matthias R., Baxter, P., Weschke, Bernhard, Baxter, Peter, Struys, E.A., Mills, Philippa B, Peter T Clayton, Tacke, U., Clayton, P.T., Jakobs, C., Philippa B Mills, Cornelis Jakobs, et al, Barbara Plecko, Plecko, Barbara, Peter Baxter, Heymut Omran   +37 more
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Expression pattern of genetic eye development markers in control and aldh7a1 morphant embryos.

, 2014
(A) Expression of nlz1 in optic fissure is down-regulated in (B) aldh7a1 morphant fish. vax2 and pax2.1 do not seem to show significant change in expression between control MO (C,E) and nlz1 morphant (D, F) fish. (G) Co-injection of nlz1 mRNA resulted in
Chad Brocker (184166), Brian P. Brooks (366590), Ramakrishna P. Alur (366582), Susan Vitale (594543), Mones Abu-Asab (80768), Holly E. Babcock (594541), Vasilis Vasiliou (184172), Sunit Dutta (594542)   +7 more
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Screening and validation of reference genes for quantitative real-time PCR in Polygonatum hunanense

Medicinal Plant Biology
Polygonatum hunanense H.H. Liu & B.Z. Wang (syn. P. kingianum var. grandifolium), is a perennial Liliaceae species with ethnopharmaceutical and nutraceutical value. It exhibits traditional medicinal properties such as qi-tonifying, yin-nourishing, kidney-
Chensi Tan, Xia Qin, Qian Xiao, Runcheng Zhang, Caiyun Peng, Wei Wang, Luyun Ning, Limin Gong   +7 more
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Additional file 1: of Metabolic control of PPAR activity by aldehyde dehydrogenase regulates invasive cell behavior and predicts survival in hepatocellular and renal clear cell carcinoma

, 2018
Figure S1. ALDH7A1 depletion promotes tumor formation in vivo. Describes effect of depleting Drosophila ALDH on tumor formation in vivo. Figure S2. ALDH7A1 mRNA level in human cancers.
Diana Andrejeva (6021008), Anand Loya (6021029), Jan-Michael Kugler (367352), Anders Malmendal (125546), Stephen Cohen (6021035), Hung Nguyen (792999), Birgitte Toft (6021023), Mette Holm (6021020)   +7 more
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Data_Sheet_1_Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study.pdf

PurposePyridoxine-dependent epilepsy due to ALDH7A1 variants (PDE-ALDH7A1) is a rare disorder, presenting typically with severe neonatal, epileptic encephalopathy. Early diagnosis is imperative to prevent uncontrolled seizures.
Vibeke Arntsen (17962370), Erle Kristensen (17962379), Guste Kupliauskiene (17962382), Trond Sand (81210), Alma Sikiric (17962376), Laurence A. Bindoff (10846037), Eylert Brodtkorb (11842434), Ahmed Jamali (17962373), Sigurbjörg Stefansdottir (17962385), Trine Tangeraas (9104654)   +9 more
core   +1 more source