| Inhibit ALDH3A2 reduce ovarian cancer cells survival via elevating ferroptosis sensitivity. | Inhibit ALDH3A2 reduce ovarian cancer cells survival via elevating ferroptosis sensitivity.
Dong H, He L, Sun Q, Zhan J, Li J, Xiong X, Zhuang L, Wu S, Li Y, Yin C, He Q. | 06/14/2023 |
| Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjogren-Larsson syndrome patients. | Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patients.
Rajeshwari M, Karthi S, Singh R, Efthymiou S, Gowda VK, Varalakshmi P, Srinivasan VM, Houlden H, Keller MA, Rizzo WB, Ashokkumar B. | 06/18/2022 |
| Macular crystalline inclusions in Sjogren-Larsson syndrome are dynamic structures that undergo remodeling. | Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling.
Al-Holou SN, Siefker E, Fouzdar-Jain S, Suh DW, Rizzo WB., Free PMC Article | 06/26/2021 |
| Sjogren-Larsson Syndrome: A case series of five members from an extended family with a novel mutation. | Sjogren-Larsson Syndrome: A case series of five members from an extended family with a novel mutation.
Abidi KT, Kamal NM, Bakkar A AA, Alotaibi M, Asseri H, Bokari KA., Free PMC Article | 06/12/2021 |
| Identification of ALDH3A2 as a novel prognostic biomarker in gastric adenocarcinoma using integrated bioinformatics analysis. | Identification of ALDH3A2 as a novel prognostic biomarker in gastric adenocarcinoma using integrated bioinformatics analysis.
Yin Z, Wu D, Shi J, Wei X, Jin N, Lu X, Ren X., Free PMC Article | 05/15/2021 |
| Comprehensive in silico screening and molecular dynamics studies of missense mutations in Sjogren-Larsson syndrome associated with the ALDH3A2 gene. | Comprehensive in silico screening and molecular dynamics studies of missense mutations in Sjogren-Larsson syndrome associated with the ALDH3A2 gene.
Udhaya Kumar S, Thirumal Kumar D, Mandal PD, Sankar S, Haldar R, Kamaraj B, Walter CEJ, Siva R, George Priya Doss C, Zayed H. | 02/6/2021 |
| We have established a patient-centered database for pathogenic variants in the ALDH3A2 gene, which contains both, genotype information for individual patients as well as clinical data. | Genotype and phenotype variability in Sjögren-Larsson syndrome.
Weustenfeld M, Eidelpes R, Schmuth M, Rizzo WB, Zschocke J, Keller MA., Free PMC Article | 03/14/2020 |
| Study from seven unrelated Egyptian pedigrees with Sjogren-Larsson syndrome revealed a novel pathogenic variant in the ALDH3A2 gene including one novel stop codon mutation; c.991G>T (p.E331X) and suggested a founder effect. | Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.
Amr K, El-Bassyouni HT, Ismail S, Youness E, El-Daly SM, Ebrahim AY, El-Kamah G. | 02/29/2020 |
| Phenotypic and mutational spectrum of thirty-five patients with Sjogren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects. | Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.
Abdel-Hamid MS, Issa MY, Elbendary HM, Abdel-Ghafar SF, Rafaat K, Hosny H, Girgis M, Abdel-Salam GMH, Zaki MS. | 12/28/2019 |
| recruitment of the forkhead protein FOXH1 on open chromatin regions integrates the signals of Activin/Smad2 and Wnt/beta-catenin to activate the expression of the ME genes including HAS2 and ALDH3A2 Consistently, H3K27me3 decrease is enriched on open chromatin around regulatory regions | Activin/Smad2 and Wnt/β-catenin up-regulate HAS2 and ALDH3A2 to facilitate mesendoderm differentiation of human embryonic stem cells.
Xu X, Wang L, Liu B, Xie W, Chen YG., Free PMC Article | 05/4/2019 |
| Homozygous ALDH3A2 mutations exhibited an unusual neuro-regressive clinical course associated with seizures in Sjogren-Larsson syndrome patients, which may reflect the presence of unidentified genetic or environmental modifiers in this consanguineous population. | Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran.
Kariminejad A, Barzgar M, Bozorgmehr B, Keshavarz E, Kariminejad MH, S'Aulis D, Rizzo WB. | 09/22/2018 |
| In female infertility, ALDH3A2 expression levels were higher in patients greater than 40 years of age and in poor responders compared to oocyte donors. | Expression Levels of the Oxidative Stress Response Gene ALDH3A2 in Granulosa-Lutein Cells Are Related to Female Age and Infertility Diagnosis.
González-Fernández R, Hernández J, Martín-Vasallo P, Puopolo M, Palumbo A, Ávila J. | 01/28/2017 |
| Sjogren-Larsson syndrome belongs to a new group of inborn-errors-of-metabolism with inherited defects in phospholipids, sphingolipids and fatty-acids biosynthesis. It is caused by ALDH3A2 gene mutations. | Clinico-radiological and genetic features of a common neuro-ichthyotic syndrome.
Jain P, Sharma S, Drunat S, Samaan S, Goel S, Gulati P, Aneja S. | 12/17/2016 |
| A previously unreported novel ALDH3A2 mutation was identified, c.681-14T>G, in a Sjogren-Larsson syndrome patient (homozygote) and his asymptomatic parents (heterozygotes). | Sjögren-Larsson syndrome: optical coherence tomography and a novel mutation.
Burgueño-Montañés C, García-Fernández M, Colunga-Cueva M, García-López A. | 12/17/2016 |
| The gatekeeper helix domain is important for directing the substrate specificity of FALDH towards long-chain fatty aldehydes. | A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.
Keller MA, Zander U, Fuchs JE, Kreutz C, Watschinger K, Mueller T, Golderer G, Liedl KR, Ralser M, Kräutler B, Werner ER, Marquez JA., Free PMC Article | 04/30/2016 |
| Sjogren-Larsson Syndrome patients with ALDH3A2 mutations exhibit retinal disease in retinal cell layers | Segmentation of Retinal Layers in Sjögren-Larsson Syndrome.
Jack LS, Benson C, Sadiq MA, Rizzo WB, Margalit E., Free PMC Article | 10/17/2015 |
| variation in the neurologic phenotype of Sjogren-Larsson syndrome is not strictly determined by the ALDH3A2 mutation or a biochemical defect, but by unidentified epigenetic/environmental factors, gene modifiers, or other mechanisms. | Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.
Davis K, Holden KR, S'Aulis D, Amador C, Matheus MG, Rizzo WB., Free PMC Article | 05/10/2014 |
| Five unrelated patients with typical Sjogren-Larsson syndrome all present mutations in the ALDH3A2 gene. | Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.
Sarret C, Rigal M, Vaurs-Barrière C, Dorboz I, Eymard-Pierre E, Combes P, Giraud G, Wanders RJ, Afenjar A, Francannet C, Boespflug-Tanguy O. | 09/8/2012 |
| the Sjogren-Larsson syndrome-causative gene ALDH3A2 is responsible for conversion of the sphingosine 1-phosphate degradation product hexadecenal to hexadecenoic acid | The Sjögren-Larsson syndrome gene encodes a hexadecenal dehydrogenase of the sphingosine 1-phosphate degradation pathway.
Nakahara K, Ohkuni A, Kitamura T, Abe K, Naganuma T, Ohno Y, Zoeller RA, Kihara A. | 07/28/2012 |
| We studied three Turkish Sjogren-Larsson syndrome patients One patient was homozygous for a novel ALDH3A2 mutation in exon 5. The mutation involves the codon 228 (CGC) with the transversion G->A modifying the codon in CAC. | Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation.
Yiş U, Terrinoni A. | 04/7/2012 |
| We describe 2 Sjogren-Larsson syndrome patients whose disease is caused by large contiguous gene deletions of the ALDH3A2 locus on 17p11.2. | Large contiguous gene deletions in Sjögren-Larsson syndrome.
Engelstad H, Carney G, S'aulis D, Rise J, Sanger WG, Rudd MK, Richard G, Carr CW, Abdul-Rahman OA, Rizzo WB., Free PMC Article | 03/3/2012 |
| SLS is caused by mutation in the ALDH3A2 gene, which encodes for FALDH, an enzyme that catalyzes the oxidation of medium- and long-chain aliphtic aldehydes. | Sjögren-Larsson syndrome due to a novel mutation in the FALDH gene.
Botelho Gomes JM, Vieira AP, Navarro J, Maré R, Tavares P, Brito C. | 09/24/2011 |
| The present results suggest that ALDH3A2 is a gene responsible for Sjogren-Larsson syndrome in Asian populations. | An Indian family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation.
Sakai K, Akiyama M, Yanagi T, Nampoothiri S, Mampilly T, Sunitha V, Shimizu H. | 02/5/2011 |
| Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
Uhl GR, Liu QR, Drgon T, Johnson C, Walther D, Rose JE, David SP, Niaura R, Lerman C., Free PMC Article | 12/2/2009 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (4) articlesGenetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ. An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
Shimada M, Miyagawa T, Kawashima M, Tanaka S, Honda Y, Honda M, Tokunaga K. New genetic associations detected in a host response study to hepatitis B vaccine.
Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H, Hibberd ML, Seielstad M. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
Saito A, Kawamoto M, Kamatani N. | 04/29/2009 |