标题
WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders
作者
关键词
-
出版物
Frontiers in Endocrinology
Volume 11, Issue -, Pages -
出版商
Frontiers Media SA
发表日期
2020-04-09
DOI
10.3389/fendo.2020.00165
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- NOVEL MUTATIONS IN THE WNT1, TMEM38B, P4HB, AND PLS3 GENES IN FOUR UNRELATED CHINESE FAMILIES WITH OSTEOGENESIS IMPERFECTA
- (2019) Yang-Jia Cao et al. Endocrine Practice
- Pathogenic Variants in GPC4 Cause Keipert Syndrome
- (2019) David J. Amor et al. AMERICAN JOURNAL OF HUMAN GENETICS
- New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6
- (2019) Michael P. Whyte et al. BONE
- Roles of Wnt7a in embryo development, tissue homeostasis, and human diseases
- (2019) Lihui Lan et al. JOURNAL OF CELLULAR BIOCHEMISTRY
- Genotype-by-environment interactions inferred from genetic effects on phenotypic variability in the UK Biobank
- (2019) Huanwei Wang et al. Science Advances
- Nosology and classification of genetic skeletal disorders: 2019 revision
- (2019) Geert R. Mortier et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- GREM1 overexpression inhibits proliferation, migration and angiogenesis of osteosarcoma
- (2019) Qingguo Gu et al. EXPERIMENTAL CELL RESEARCH
- Secreted Frizzled‐related proteins (sFRPs) in osteo‐articular diseases: much more than simple antagonists of Wnt signaling?
- (2019) Marion Claudel et al. FEBS Journal
- The Regulation of Bone Metabolism and Disorders by Wnt Signaling
- (2019) Kazuhiro Maeda et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Whole‐exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome
- (2019) Kai Yang et al. JOURNAL OF CLINICAL LABORATORY ANALYSIS
- Are drug targets with genetic support twice as likely to be approved? Revised estimates of the impact of genetic support for drug mechanisms on the probability of drug approval
- (2019) Emily A. King et al. PLoS Genetics
- WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome
- (2018) Janson J. White et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation
- (2018) Magdalena Danyel et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes
- (2018) Keisuke Nagasaki et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Secreted frizzled related protein 4 (sFRP4) update: A brief review
- (2018) Neelam M. Pawar et al. CELLULAR SIGNALLING
- Dishevelled: A masterful conductor of complex Wnt signals
- (2018) Monica Sharma et al. CELLULAR SIGNALLING
- Split hand-foot malformation and a novel WNT10B mutation
- (2018) Piranit Nik Kantaputra et al. European Journal of Medical Genetics
- Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers
- (2018) Rivka Sukenik Halevy et al. HUMAN MUTATION
- Differential activities and mechanisms of the four R-spondins in potentiating Wnt/β-catenin signaling
- (2018) Soohyun Park et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- A Phase 3 Randomized Placebo-controlled Trial to Evaluate Efficacy and Safety of Romosozumab in Men With Osteoporosis
- (2018) E Michael Lewiecki et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Genetics of Sost/SOST in sclerosteosis and van Buchem disease animal models
- (2018) Aimy Sebastian et al. METABOLISM-CLINICAL AND EXPERIMENTAL
- R-spondins can potentiate WNT signaling without LGRs
- (2018) Andres M Lebensohn et al. eLife
- RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
- (2018) Emmanuelle Szenker-Ravi et al. NATURE
- Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study
- (2018) Katerina Trajanoska et al. BMJ-British Medical Journal
- Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits
- (2018) Malika Kumar Freund et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Leveraging Polygenic Functional Enrichment to Improve GWAS Power
- (2018) Gleb Kichaev et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 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
- (2018) Mohammad M. Al-Qattan et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
- (2018) Gregory Costain et al. GENETICS IN MEDICINE
- An atlas of genetic influences on osteoporosis in humans and mice
- (2018) John A. Morris et al. NATURE GENETICS
- MECHANISMS IN ENDOCRINOLOGY: Genetics of human bone formation
- (2017) Eveline Boudin et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome
- (2017) Mirena C. Astiazarán et al. Genetic Testing and Molecular Biomarkers
- Glypican-6 promotes the growth of developing long bones by stimulating Hedgehog signaling
- (2017) Mariana Capurro et al. JOURNAL OF CELL BIOLOGY
- Osteocyte-specific WNT1 regulates osteoblast function during bone homeostasis
- (2017) Kyu Sang Joeng et al. JOURNAL OF CLINICAL INVESTIGATION
- A novel sequence variant in SFRP4 causing Pyle disease
- (2017) Chelna Galada et al. JOURNAL OF HUMAN GENETICS
- Romosozumab (sclerostin monoclonal antibody) versus teriparatide in postmenopausal women with osteoporosis transitioning from oral bisphosphonate therapy: a randomised, open-label, phase 3 trial
- (2017) Bente L Langdahl et al. LANCET
- Association analysis identifies 65 new breast cancer risk loci
- (2017) Kyriaki Michailidou et al. NATURE
- Romosozumab or Alendronate for Fracture Prevention in Women with Osteoporosis
- (2017) Kenneth G. Saag et al. NEW ENGLAND JOURNAL OF MEDICINE
- Functional Roles of the Interaction of APP and Lipoprotein Receptors
- (2017) Theresa Pohlkamp et al. Frontiers in Molecular Neuroscience
- DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome
- (2016) Janson J. White et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Dermatologic findings of focal dermal hypoplasia (Goltz syndrome)
- (2016) Alanna F. Bree et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Genome-wide association study using family-based cohorts identifies the WLS and CCDC170/ESR1 loci as associated with bone mineral density
- (2016) Benjamin H. Mullin et al. BMC GENOMICS
- Sclerostin Inhibition in the Management of Osteoporosis
- (2016) Natasha M. Appelman-Dijkstra et al. CALCIFIED TISSUE INTERNATIONAL
- Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations
- (2016) G. Fehringer et al. CANCER RESEARCH
- A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus
- (2016) Mehmet Burak Mutlu et al. European Journal of Medical Genetics
- Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis
- (2016) Charlotte W. Ockeloen et al. GENETICS IN MEDICINE
- A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone
- (2016) Igor Fijalkowski et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease
- (2016) Pelin O. Simsek Kiper et al. NEW ENGLAND JOURNAL OF MEDICINE
- Romosozumab Treatment in Postmenopausal Women with Osteoporosis
- (2016) Felicia Cosman et al. NEW ENGLAND JOURNAL OF MEDICINE
- Impaired bone remodeling in children with osteogenesis imperfecta treated and untreated with bisphosphonates: the role of DKK1, RANKL, and TNF-α
- (2016) G. Brunetti et al. OSTEOPOROSIS INTERNATIONAL
- The role of R-spondins and their receptors in bone metabolism
- (2016) Gui-Xun Shi et al. PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY
- Common genetic variation in ETV6 is associated with colorectal cancer susceptibility
- (2016) Meilin Wang et al. Nature Communications
- sFRP4-dependent Wnt signal modulation is critical for bone remodeling during postnatal development and age-related bone loss
- (2016) Ryuma Haraguchi et al. Scientific Reports
- Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome
- (2015) Kieran J. Bunn et al. AMERICAN JOURNAL OF HUMAN GENETICS
- DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome
- (2015) Janson White et al. AMERICAN JOURNAL OF HUMAN GENETICS
- LRP4 in neuromuscular junction and bone development and diseases
- (2015) Chengyong Shen et al. BONE
- Skeletal Dysplasias
- (2015) Deborah Krakow CLINICS IN PERINATOLOGY
- A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia
- (2015) H. M. Saal et al. HUMAN MOLECULAR GENETICS
- Regulation of bone metabolism by Wnt signals
- (2015) Yasuhiro Kobayashi et al. JOURNAL OF BIOCHEMISTRY
- BMP signalling: agony and antagony in the family
- (2015) Derek P. Brazil et al. TRENDS IN CELL BIOLOGY
- Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features
- (2015) Mariam Almuriekhi et al. Cell Reports
- De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype
- (2014) M. Roifman et al. CLINICAL GENETICS
- The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations
- (2014) Kyu Sang Joeng et al. HUMAN MOLECULAR GENETICS
- Goltz syndrome andPORCNmosaicism
- (2014) David A. Stevenson et al. INTERNATIONAL JOURNAL OF DERMATOLOGY
- WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta
- (2013) Shawna M. Pyott et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in WNT1 Cause Different Forms of Bone Fragility
- (2013) Katharina Keupp et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Severe Cenani-Lenz syndrome caused by loss of LRP4 function
- (2013) Ariana Kariminejad et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner
- (2013) Bisei Ohkawara et al. HUMAN MOLECULAR GENETICS
- Mutations in WNT1 are a cause of osteogenesis imperfecta
- (2013) Somayyeh Fahiminiya et al. JOURNAL OF MEDICAL GENETICS
- Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits
- (2013) Unnur Styrkarsdottir et al. NATURE
- WNT signaling in bone homeostasis and disease: from human mutations to treatments
- (2013) Roland Baron et al. NATURE MEDICINE
- WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
- (2013) Christine M. Laine et al. NEW ENGLAND JOURNAL OF MEDICINE
- Functional Comparison of Human Adenomatous Polyposis Coli (APC) and APC-Like in Targeting Beta-Catenin for Degradation
- (2013) Jean Schneikert et al. PLoS One
- The role of extracellular modulators of canonical Wnt signaling in bone metabolism and diseases
- (2013) Eveline Boudin et al. SEMINARS IN ARTHRITIS AND RHEUMATISM
- Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity
- (2012) Johanna Korvala et al. BMC Medical Genetics
- A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B
- (2012) Rabia Habib et al. CLINICAL DYSMORPHOLOGY
- Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
- (2012) Karol Estrada et al. NATURE GENETICS
- Structural Basis of Wnt Recognition by Frizzled
- (2012) C. Y. Janda et al. SCIENCE
- A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families
- (2011) Wafaa Eyaid et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The canonical Wnt signaling activator, R-spondin2, regulates craniofacial patterning and morphogenesis within the branchial arch through ectodermal–mesenchymal interaction
- (2011) Yong-Ri Jin et al. DEVELOPMENTAL BIOLOGY
- Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)
- (2011) C M Laine et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia
- (2011) Su Jin Kim et al. HUMAN GENETICS
- Bone Overgrowth-associated Mutations in theLRP4Gene Impair Sclerostin Facilitator Function
- (2011) Olivier Leupin et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Structural and Functional Characterization of the Wnt Inhibitor APC Membrane Recruitment 1 (Amer1)
- (2011) Kristina Tanneberger et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome
- (2010) Yun Li et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance
- (2010) Ariane Blattner et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: Genetic homogeneity and nosological delineation
- (2010) Livia Garavelli et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
- (2010) Piranit N. Kantaputra et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis
- (2010) B Perdu et al. CLINICAL GENETICS
- Nucleoredoxin Sustains Wnt/β-Catenin Signaling by Retaining a Pool of Inactive Dishevelled Protein
- (2010) Yosuke Funato et al. CURRENT BIOLOGY
- Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B
- (2010) Bing Wang et al. HUMAN MOLECULAR GENETICS
- Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani-Lenz-like non-syndromic oligosyndactyly
- (2010) B. I. Dimitrov et al. JOURNAL OF MEDICAL GENETICS
- Lrp4 Regulates Initiation of Ureteric Budding and Is Crucial for Kidney Formation – A Mouse Model for Cenani-Lenz Syndrome
- (2010) Courtney M. Karner et al. PLoS One
- Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia
- (2009) Ana Belinda Campos-Xavier et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Towards an integrated view of Wnt signaling in development
- (2009) R. van Amerongen et al. DEVELOPMENT
- WNT5Amutations in patients with autosomal dominant Robinow syndrome
- (2009) Anthony D. Person et al. DEVELOPMENTAL DYNAMICS
- A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes
- (2009) Wibke Schwarzer et al. HUMAN MOLECULAR GENETICS
- Characterization of the Structural Features and Interactions of Sclerostin
- (2009) Vaclav Veverka et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Osteopathia striata with cranial sclerosis owing to WTX gene defect
- (2009) Bram Perdu et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Congenital Duplication of the Palm Syndrome: Gene Analysis and the Molecular Basis of its Clinical Features
- (2009) M. M. AL-QATTAN et al. Journal of Hand Surgery-European Volume
- APC2 Plays an Essential Role in Axonal Projections through the Regulation of Microtubule Stability
- (2009) T. Shintani et al. JOURNAL OF NEUROSCIENCE
- Discovery of Candidate Disease Genes in ENU–Induced Mouse Mutants by Large-Scale Sequencing, Including a Splice-Site Mutation in Nucleoredoxin
- (2009) Melissa K. Boles et al. PLoS Genetics
- The Binding Between Sclerostin and LRP5 is Altered by DKK1 and by High-Bone Mass LRP5 Mutations
- (2008) Wendy Balemans et al. CALCIFIED TISSUE INTERNATIONAL
- Wilms tumor genetics: Mutations inWT1,WTX, andCTNNB1 account for only about one-third of tumors
- (2008) E. Cristy Ruteshouser et al. GENES CHROMOSOMES & CANCER
- Nucleoredoxin regulates the Wnt/planar cell polarity pathway inXenopus
- (2008) Yosuke Funato et al. GENES TO CELLS
- Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation
- (2008) Sibel Aylin Ugur et al. HUMAN MOLECULAR GENETICS
- Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
- (2008) Zandra A Jenkins et al. NATURE GENETICS
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started