LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome
about
Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator functionMutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin typeIntegrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humansWNT signaling in bone development and homeostasisThe osteocyte as a therapeutic target in the treatment of osteoporosisAnti-LRP4 autoantibodies in AChR- and MuSK-antibody-negative myasthenia gravisAgrin binds to the N-terminal region of Lrp4 protein and stimulates association between Lrp4 and the first immunoglobulin-like domain in muscle-specific kinase (MuSK)The extracellular region of Lrp4 is sufficient to mediate neuromuscular synapse formationMesdc2 plays a key role in cell-surface expression of Lrp4 and postsynaptic specialization in myotubesLRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.Lrp4 regulates initiation of ureteric budding and is crucial for kidney formation--a mouse model for Cenani-Lenz syndromeMesd is a universal inhibitor of Wnt coreceptors LRP5 and LRP6 and blocks Wnt/beta-catenin signaling in cancer cells.Syndactyly: phenotypes, genetics and current classificationSingle cell dissection of early kidney development: multilineage primingLRP4 is critical for neuromuscular junction maintenanceReceptor heterodimerization as a novel mechanism for the regulation of Wnt/β-catenin signaling.More than cholesterol transporters: lipoprotein receptors in CNS function and neurodegenerationDisruption of Lrp4 function by genetic deletion or pharmacological blockade increases bone mass and serum sclerostin levels(Pro)renin Receptor in Kidney Development and Disease.PTH receptor signaling in osteocytes governs periosteal bone formation and intracortical remodeling.Lrp4 domains differentially regulate limb/brain development and synaptic plasticityAdvances in the Molecular Genetics of Non-syndromic Syndactyly.The epidemiology, genetics and future management of syndactyly.Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia.LRP receptor family member associated bone diseaseCenani-Lenz syndrome-like limb anomaly with more severe involvement of left side.Lipoprotein receptors--an evolutionarily ancient multifunctional receptor family.High-throughput sequencing and rare genetic diseases.Polyhydramnios in Lrp4 knockout mice with bilateral kidney agenesis: Defects in the pathways of amniotic fluid clearanceSecreted and transmembrane wnt inhibitors and activators.LRP5 and bone mass regulation: Where are we now?TRNT1 deficiency: clinical, biochemical and molecular genetic featuresWnt/β-catenin Signaling in Normal and Cancer Stem Cells.EZH2-mediated repression of GSK-3β and TP53 promotes Wnt/β-catenin signaling-dependent cell expansion in cervical carcinoma.Wnt and the Wnt signaling pathway in bone development and disease.Predictive markers and driving factors behind Richter syndrome development.The molecular basis of human congenital limb malformations.Approach to Investigating Congenital Skeletal Abnormalities in Livestock.Salivary gland development and disease.Genetic, environmental, and epigenetic factors involved in CAKUT.
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P2860
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome
description
2010 nî lūn-bûn
@nan
2010 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
LRP4 mutations alter Wnt/beta- ...... ations in Cenani-Lenz syndrome
@ast
LRP4 mutations alter Wnt/beta- ...... ations in Cenani-Lenz syndrome
@en
LRP4 mutations alter Wnt/beta- ...... ations in Cenani-Lenz syndrome
@en-gb
LRP4 mutations alter Wnt/beta- ...... ations in Cenani-Lenz syndrome
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LRP4 mutations alter Wnt/beta- ...... ations in Cenani-Lenz syndrome
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LRP4 mutations alter Wnt/beta- ...... ations in Cenani-Lenz syndrome
@en
LRP4 mutations alter Wnt/beta- ...... ations in Cenani-Lenz syndrome
@en-gb
LRP4 mutations alter Wnt/beta- ...... ations in Cenani-Lenz syndrome
@nl
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LRP4 mutations alter Wnt/beta- ...... ations in Cenani-Lenz syndrome
@ast
LRP4 mutations alter Wnt/beta- ...... ations in Cenani-Lenz syndrome
@en
LRP4 mutations alter Wnt/beta- ...... ations in Cenani-Lenz syndrome
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LRP4 mutations alter Wnt/beta- ...... ations in Cenani-Lenz syndrome
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P2093
P2860
P50
P3181
P1476
LRP4 mutations alter Wnt/beta- ...... ations in Cenani-Lenz syndrome
@en
P2093
Asim Cenani
Ayca D Aslanger
Barbara Pawlik
Boi-Dinh Chung
Christian Becker
Christian Netzer
Ferda Percin
Frances Goodman
Hanan Hamamy
Joachim Herz
P2860
P304
P3181
P356
10.1016/J.AJHG.2010.03.004
P407
P50
P577
2010-05-14T00:00:00Z