| LSS rs2254524 Increases the Risk of Hypertension in Children and Adolescents with Obesity. | LSS rs2254524 Increases the Risk of Hypertension in Children and Adolescents with Obesity.
Umano GR, Cirillo G, Rondinelli G, Sanchez G, Marzuillo P, Guarino S, Di Sessa A, Papparella A, Miraglia Del Giudice E., Free PMC Article | 08/30/2023 |
| Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes. | Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.
Cesarato N, Wehner M, Ghughunishvili M, Schmidt A, Axt D, Thiele H, Lentze MJ, Has C, Geyer M, Basmanav FB, Betz RC. | 03/5/2022 |
| Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene. | Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene.
Hua S, Ding Y, Zhang J, Qian Q, Li M. | 07/17/2021 |
| The Polymorphism rs2968 of LSS Gene Confers Susceptibility to Age-Related Cataract. | The Polymorphism rs2968 of LSS Gene Confers Susceptibility to Age-Related Cataract.
Zou X, Wang H, Zhou D, Liu Z, Wang Y, Deng G, Guan H. | 11/28/2020 |
| Study describes identification of novel mutation 1885T>A (p.Trp629Arg) in the LSS gene in the squalene cyclase, C-terminal domain associated with hypotrichosis 14 in a Chinese family. | A novel and a known mutation in LSS gene associated with hypotrichosis 14 in a Chinese family.
Li F, Liao C, Li R, Zhang Y, Jing X, Li Y, Deng W. | 05/30/2020 |
| Study identified two patients with novel biallelic LSS mutations who exhibited congenital hypotrichosis and midline anomalies but did not have cataracts. Epidermis-specific Lss knockout mice showed neonatal lethality due to dehydration, indicating that LSS could be involved in skin barrier integrity. Knockout of Lss in the epidermis caused hypotrichosis in adult mice. Lens-specific Lss knockout mice had cataracts. | Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.
Wada Y, Kikuchi A, Kaga A, Shimizu N, Ito J, Onuma R, Fujishima F, Totsune E, Sato R, Niihori T, Shirota M, Funayama R, Sato K, Nakazawa T, Nakayama K, Aoki Y, Aiba S, Nakagawa K, Kure S., Free PMC Article | 05/16/2020 |
| Investigated lanosterol synthase as a possible target for treatment of glioma. | Target identification reveals lanosterol synthase as a vulnerability in glioma.
Phillips RE, Yang Y, Smith RC, Thompson BM, Yamasaki T, Soto-Feliciano YM, Funato K, Liang Y, Garcia-Bermudez J, Wang X, Garcia BA, Yamasaki K, McDonald JG, Birsoy K, Tabar V, Allis CD., Free PMC Article | 03/28/2020 |
| In the cholesterol biosynthesis pathway, lanosterol synthase leads to the cyclization of (S)-2,3-oxidosqualene into lanosterol. Our data suggest LSS as a major gene causing a rare recessive neuroectodermal syndrome. | Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Besnard T, Sloboda N, Goldenberg A, Küry S, Cogné B, Breheret F, Trochu E, Conrad S, Vincent M, Deb W, Balguerie X, Barbarot S, Baujat G, Ben-Omran T, Bursztejn AC, Carmignac V, Datta AN, Delignières A, Faivre L, Gardie B, Guéant JL, Kuentz P, Lenglet M, Nassogne MC, Ramaekers V, Schnur RE, Si Y, Torti E, Thevenon J, Vabres P, Van Maldergem L, Wand D, Wiedemann A, Cariou B, Redon R, Lamazière A, Bézieau S, Feillet F, Isidor B. | 02/8/2020 |
| LSS gene mutation is associated with Congenital cataract. | Congenital cataract with LSS gene mutations: a new case report.
Chen X, Liu L. | 06/30/2018 |
| Lanosterol synthase gene polymorphisms influence both the salt sensitivity of BP and changes in circulating EO in response to a low salt diet. | Lanosterol Synthase Gene Polymorphisms and Changes in Endogenous Ouabain in the Response to Low Sodium Intake.
Lanzani C, Gatti G, Citterio L, Messaggio E, Delli Carpini S, Simonini M, Casamassima N, Zagato L, Brioni E, Hamlyn JM, Manunta P., Free PMC Article | 05/21/2016 |
| There were no significant differences in OSC mRNA expression at various stages of breast cancer, or between tumor and normal mammary cells. | Cholesterol synthesis inhibitor RO 48-8071 suppresses transcriptional activity of human estrogen and androgen receptor.
Mafuvadze B, Liang Y, Hyder SM. | 06/6/2015 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Suppression of 2,3-oxidosqualene cyclase by high fat diet contributes to liver X receptor-alpha-mediated improvement of hepatic lipid profile. | Suppression of 2,3-oxidosqualene cyclase by high fat diet contributes to liver X receptor-alpha-mediated improvement of hepatic lipid profile.
Dang H, Liu Y, Pang W, Li C, Wang N, Shyy JY, Zhu Y., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesGene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
Lu Y, Dollé ME, Imholz S, van 't Slot R, Verschuren WM, Wijmenga C, Feskens EJ, Boer JM. | 09/24/2008 |
| two crystal structures of the human membrane protein OSC: the target protein with an inhibitor that showed cholesterol lowering in vivo opens the way for the structure-based design of new OSC inhibitors | Insight into steroid scaffold formation from the structure of human oxidosqualene cyclase.
Thoma R, Schulz-Gasch T, D'Arcy B, Benz J, Aebi J, Dehmlow H, Hennig M, Stihle M, Ruf A. | 01/21/2010 |
| oxidosqualene cyclase is active as a monomer | The monotopic membrane protein human oxidosqualene cyclase is active as monomer.
Ruf A, Müller F, D'Arcy B, Stihle M, Kusznir E, Handschin C, Morand OH, Thoma R. | 01/21/2010 |