Associated Papers
Nuclear cholesterol regulates nuclear size and DNA damage responses in cancer stem cells.
Duan T et al.
Neuro-oncology, 2025
Novel LBR pathogenic variants with loss of sterol reductase activity participate in the pathogenesis of skeletal dysplasia via dysregulating canonical Wnt pathway.
Chen Y et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025
A Family of LBR Biallelic Pathogenic Variants Resulting in Rhizomelic Skeletal Dysplasia with Pelger-Huët Anomaly.
Dirimtekin E et al.
Molecular Syndromology, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Novel lamin B receptor mutation (c.561C > G) in a patient with Pelger-Huët anomaly: a case report.
Yin J et al.
Frontiers in Pediatrics, 2025
Dynamic quality control machinery that operates across compartmental borders mediates the degradation of mammalian nuclear membrane proteins.
Tsai PL et al.
Cell Reports, 2022
The LEM-ESCRT toolkit: Repair and maintenance of the nucleus.
Borah S et al.
Frontiers in Cell and Developmental Biology, 2022
Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors.
Shen X et al.
Frontiers in Genetics, 2022
A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders.
Gregersen PA et al.
Molecular Genetics & Genomic Medicine, 2020
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes.
Giorgio E et al.
American Journal of Medical Genetics. Part A, 2019
A common pathomechanism in GMAP-210- and LBR-related diseases.
Wehrle A et al.
Jci Insight, 2018
The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations.
Tsai PL et al.
Elife, 2016
Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism.
Turner EM et al.
Rare Diseases (austin, Tex.), 2016
Structure of an integral membrane sterol reductase from Methylomicrobium alcaliphilum.
Li X et al.
Nature, 2015
Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.
Borovik L et al.
American Journal of Medical Genetics. Part A, 2013
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.
Clayton P et al.
Nucleus (austin, Tex.), 0