Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.
Masingue M et al.
Scientific Reports, 2023
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome.
Khan H et al.
Journal of Human Genetics, 2022
Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis.
Huybrechts Y et al.
Genes, 2021
Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives.
Yesodharan D et al.
American Journal of Medical Genetics. Part A, 2021
Deficiency of lrp4 in zebrafish and human LRP4 mutation induce aberrant activation of Jagged-Notch signaling in fin and limb development.
Tian J et al.
Cellular and Molecular Life Sciences : Cmls, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.
Sukenik Halevy R et al.
Human Mutation, 2018
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Stals KL et al.
Prenatal Diagnosis, 2018
A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.
Fijalkowski I et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia.
Selcen D et al.
Jama Neurology, 2015
Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome.
Lindy AS et al.
American Journal of Medical Genetics. Part A, 2014
LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.
Ohkawara B et al.
Human Molecular Genetics, 2014
Severe Cenani-Lenz syndrome caused by loss of LRP4 function.
Kariminejad A et al.
American Journal of Medical Genetics. Part A, 2013
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
Li Y et al.
American Journal of Human Genetics, 2010