| LRP4 site-specific variants in the third beta-propeller domain causes congenital myasthenic syndrome type 17. | LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17.
Al Jabry T, Al-Hashmi N, Abdelhadi B, Al-Maawali A. | 02/1/2024 |
| LRP4-related signalling pathways and their regulatory role in neurological diseases. | LRP4-related signalling pathways and their regulatory role in neurological diseases.
Chen BH, Lin ZY, Zeng XX, Jiang YH, Geng F. | 01/30/2024 |
| A variant in the LDL receptor-related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani origin. | A variant in the LDL receptor-related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani origin.
Khan H, Ullah K, Jan A, Ali H, Ullah I, Ahmad W. | 11/20/2023 |
| The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction. | The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction.
Uyen Dao TM, Barbeau S, Messéant J, Della-Gaspera B, Bouceba T, Semprez F, Legay C, Dobbertin A., Free PMC Article | 09/1/2023 |
| Knockdown of long noncoding RNA HUMT inhibits the proliferation and metastasis by regulating miR-455-5p/LRP4 axis in hepatocellular carcinoma. | Knockdown of long noncoding RNA HUMT inhibits the proliferation and metastasis by regulating miR-455-5p/LRP4 axis in hepatocellular carcinoma.
Zou X, Sun P, Xie H, Fan L, Ding K, Wang J, Li Y., Free PMC Article | 05/7/2022 |
| Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome. | Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome.
Khan H, Chong AEQ, Bilal M, Nawaz S, Abdullah, Abbasi S, Hussain A, Hussain S, Ullah I, Ali H, Xue S, Ahmad W. | 04/30/2022 |
| Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third beta-Propeller Domain Can Cause Sclerosteosis. | Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis.
Huybrechts Y, Boudin E, Hendrickx G, Steenackers E, Hamdy N, Mortier G, Martínez Díaz-Guerra G, Bracamonte MS, Appelman-Dijkstra NM, Van Hul W., Free PMC Article | 04/30/2022 |
| Correlation between BTG3, CASP9 and LRP4 single-nucleotide polymorphisms and susceptibility to papillary thyroid carcinoma. | Correlation between BTG3, CASP9 and LRP4 single-nucleotide polymorphisms and susceptibility to papillary thyroid carcinoma.
Zhang F, Fan G, Wang X. | 04/16/2022 |
| The VWF/LRP4/alphaVbeta3-axis represents a novel pathway regulating proliferation of human vascular smooth muscle cells. | The VWF/LRP4/αVβ3-axis represents a novel pathway regulating proliferation of human vascular smooth muscle cells.
Lagrange J, Worou ME, Michel JB, Raoul A, Didelot M, Muczynski V, Legendre P, Plénat F, Gauchotte G, Lourenco-Rodrigues MD, Christophe OD, Lenting PJ, Lacolley P, Denis CV, Regnault V. | 03/5/2022 |
| A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2. | A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2.
Bukowska-Olech E, Sowińska-Seidler A, Szczałuba K, Jamsheer A. | 09/18/2021 |
| Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives. | Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives.
Yesodharan D, Krishnan V, Nair IR, Ganapathy A, Mannan AU, Nampoothiri S. | 07/10/2021 |
| LRP4 promotes migration and invasion of gastric cancer under the regulation of microRNA-140-5p. | LRP4 promotes migration and invasion of gastric cancer under the regulation of microRNA-140-5p.
Mao Z, Wang Z, Zhang S, Pu Y, Wang J, Zhang T, Long Y, Liu Y, Ma Y, Zhu J. | 06/26/2021 |
| Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family. | Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family.
Alrayes N, Aziz A, Ullah F, Ishfaq M, Jelani M, Wali A. | 06/5/2021 |
| A Role of Low-Density Lipoprotein Receptor-Related Protein 4 (LRP4) in Astrocytic Abeta Clearance. | A Role of Low-Density Lipoprotein Receptor-Related Protein 4 (LRP4) in Astrocytic Aβ Clearance.
Zhang H, Chen W, Tan Z, Zhang L, Dong Z, Cui W, Zhao K, Wang H, Jing H, Cao R, Kim C, Safar JG, Xiong WC, Mei L., Free PMC Article | 11/28/2020 |
| Cenani-Lenz (C-L) syndrome-like phenotypes as well as other syndactyly disorders with or without metacarpal synostosis/phalangeal disorganization are also known to be associated with specific LRP4 mutations, adenomatous polyposis coli (APC) truncating mutations, genomic rearrangements of the GREM1-FMN1 locus, as well as FMN1 mutations. | Cenani-Lenz syndrome and other related syndactyly disorders due to variants in LRP4, GREM1/FMN1, and APC: Insight into the pathogenesis and the relationship to polyposis through the WNT and BMP antagonistic pathways.
Al-Qattan MM, Alkuraya FS. | 02/8/2020 |
| These results suggest that variants in the fourth beta-propeller of the extracellular protein domain may cause a phenotype distinct from previously characterized LRP4 variants. | 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, Chien HC, Heinz B, Bamshad MJ, Nickerson DA, University of Washington Center for Mendelian Genomics, Kircher M, Ahituv N., Free PMC Article | 06/1/2019 |
| The results showed that LRP4 suppressed both Wnt/beta-Catenin and Notch signaling pathways, and these activities were perturbed either by LRP4 missense mutations or by a knockdown of LRP4. | Deficiency of lrp4 in zebrafish and human LRP4 mutation induce aberrant activation of Jagged-Notch signaling in fin and limb development.
Tian J, Shao J, Liu C, Hou HY, Chou CW, Shboul M, Li GQ, El-Khateeb M, Samarah OQ, Kou Y, Chen YH, Chen MJ, Lyu Z, Chen WL, Chen YF, Sun YH, Liu YW. | 01/26/2019 |
| In vitro experiments demonstrated that LRP4 downregulation significantly inhibited the colony formation, proliferation, migration, and invasion of the three papillary thyroid cancer cell lines. | LRP4 promotes proliferation, migration, and invasion in papillary thyroid cancer.
Zhou X, Xia E, Bhandari A, Zheng C, Xiang J, Guan Y, Zhang X. | 12/22/2018 |
| LRP4 c.2552C>G (p.(T851R) variant was identified in the family with Chiari malformation type 1. | Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development.
Merello E, Tattini L, Magi A, Accogli A, Piatelli G, Pavanello M, Tortora D, Cama A, Kibar Z, Capra V, De Marco P., Free PMC Article | 12/16/2017 |
| A novel splice variant in LRP4 (c.316+1G > A) segregated with Cenani-Lenz syndactyly phenotype in a five generations family. | Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.
Afzal M, Zaman Q, Kornak U, Mundlos S, Malik S, Flöttmann R. | 10/14/2017 |
| LRP4 mutations alter Wnt/beta catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. | LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B., Free PMC Article | 07/7/2017 |
| the first evidence suggesting that LRP4 is responsible for the retention of sclerostin in the bone environment in humans. | A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.
Fijalkowski I, Geets E, Steenackers E, Van Hoof V, Ramos FJ, Mortier G, Fortuna AM, Van Hul W, Boudin E. | 12/24/2016 |
| study presents 2 sibling fetuses with a prenatal lethal presentation of mesomelic limb reductions, oligosyndactyly, genitourinary malformation and compound heterozygosity for 2 novel truncating mutations in LRP4 | Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome.
Lindy AS, Bupp CP, McGee SJ, Steed E, Stevenson RE, Basehore MJ, Friez MJ. | 06/20/2015 |
| MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters | MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters.
Koneczny I, Cossins J, Waters P, Beeson D, Vincent A., Free PMC Article | 02/28/2015 |
| LRP4 is essential for maintaining the structural and functional activity of the neuromuscular junction. | LRP4 is critical for neuromuscular junction maintenance.
Barik A, Lu Y, Sathyamurthy A, Bowman A, Shen C, Li L, Xiong WC, Mei L., Free PMC Article | 02/7/2015 |