Associated Papers
Compromised lipid metabolism, mitochondria respiration and neuroprotective effects in iPSC-derived astrocytes from a Smith-Lemli-Opitz syndrome patient.
Kawatani K et al.
Human Molecular Genetics, 2025
Macrophage signaling and function are regulated by distinct sterol biochemistries.
Yaeger JDW et al.
Biorxiv : the Preprint Server for Biology, 2025
Exploring Recent Developments in the Manifestation, Diagnosis, and Treatment of Patients with Smith-Lemli-Opitz Syndrome: From Molecular Pathways to Clinical Innovations.
Żukowska A et al.
International Journal of Molecular Sciences, 2025
Smith-Lemli-Opitz syndrome: Clinical, biochemical, and genetic insights with emerging treatment opportunities.
Kritzer A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Dishevelled localization and function are differentially regulated by structurally distinct sterols.
Sengupta S et al.
Iscience, 2025
Hydroxyzine Effects on Post-Lanosterol Biosynthesis in Smith-Lemli-Opitz Syndrome (SLOS) Models.
Korade Z et al.
Biomolecules, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies.
Zhang H et al.
Heliyon, 2024
Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient.
Yılmaz M et al.
Molecular Syndromology, 2024
DHCR7 links cholesterol synthesis with neuronal development and axonal integrity.
Miyazaki S et al.
Biochemical and Biophysical Research Communications, 2024
Dishevelled localization and function are differentially regulated by structurally distinct sterols.
Sengupta S et al.
Biorxiv : the Preprint Server for Biology, 2024
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
Bonfiglio F et al.
Ebiomedicine, 2023
A taxonomic schema of potential pitfalls in clinical variant analysis based on real-world evidence.
Coovadia A et al.
Plos One, 2023
Sterol dysregulation in Smith-Lemli-Opitz syndrome causes astrocyte immune reactivity through microglia crosstalk.
Freel BA et al.
Disease Models & Mechanisms, 2022
Medication effects on developmental sterol biosynthesis.
Korade Z et al.
Molecular Psychiatry, 2022
Morphological, biochemical, and transcriptomic characterization of iPSC-derived human RPE cells from normal and Smith-Lemli-Opitz syndrome patients.
Farkas MH et al.
Molecular Vision, 2022
Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.
Park JE et al.
Orphanet Journal of Rare Diseases, 2021
Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome.
Kanuri B et al.
Journal of Lipid Research, 2021
[Clinical and genetic analysis of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome].
Gao C et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report.
Delvecchio M et al.
Italian Journal of Pediatrics, 2020
Genetic innovations and our understanding of stillbirth.
Wilkins-Haug L
Human Genetics, 2020
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.
Westemeyer M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
Gao C et al.
Frontiers in Genetics, 2019
Smith-Lemli-Opitz Mutations in Unexplained Stillbirths.
Gibbins KJ et al.
American Journal of Perinatology, 2018
Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex-Associated Renal Cell Carcinoma.
Park JH et al.
Translational Oncology, 2018
Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.
Peng Y et al.
International Journal of Molecular Sciences, 2018
Compromised phagosome maturation underlies RPE pathology in cell culture and whole animal models of Smith-Lemli-Opitz Syndrome.
Ramachandra Rao S et al.
Autophagy, 2018
iPhemap: an atlas of phenotype to genotype relationships of human iPSC models of neurological diseases.
Hollingsworth EW et al.
Embo Molecular Medicine, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Oxidative stress, serotonergic changes and decreased ultrasonic vocalizations in a mouse model of Smith-Lemli-Opitz syndrome.
Sharif NF et al.
Genes, Brain, and Behavior, 2017
Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.
Shi L et al.
Clinical Genetics, 2017
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.
Lazarin GA et al.
Prenatal Diagnosis, 2017
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.
Wassif CA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development.
Tamura M et al.
Human Genome Variation, 2017
Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.
Boland MR et al.
The Pharmacogenomics Journal, 2016
Cholesterol-mediated Degradation of 7-Dehydrocholesterol Reductase Switches the Balance from Cholesterol to Vitamin D Synthesis.
Prabhu AV et al.
The Journal of Biological Chemistry, 2016
Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes.
Francis KR et al.
Nature Medicine, 2016
Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.
Blassberg R et al.
Human Molecular Genetics, 2016
Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome.
Pasta S et al.
Molecular Genetics and Metabolism Reports, 2015
Characterization of large deletions in the DHCR7 gene.
Lanthaler B et al.
Clinical Genetics, 2015
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.
Cross JL et al.
Clinical Genetics, 2015
Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome.
Witsch-Baumgartner M et al.
European Journal of Human Genetics : Ejhg, 2015
Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.
Bianconi SE et al.
Expert Opinion on Orphan Drugs, 2015
Autism spectrum disorder: an omics perspective.
Woods AG et al.
Proteomics. Clinical Applications, 2015
Genotype-based databases for variants causing rare diseases.
Lanthaler B et al.
Gene, 2014
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.
Sparks SE et al.
Journal of Inherited Metabolic Disease, 2014