Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
about
The deleted in brachydactyly B domain of ROR2 is required for receptor activation by recruitment of SrcWnt signaling in development and diseaseWNT5A mutations in patients with autosomal dominant Robinow syndromeHomozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.Loss of mRor1 enhances the heart and skeletal abnormalities in mRor2-deficient mice: redundant and pleiotropic functions of mRor1 and mRor2 receptor tyrosine kinasesThe orphan tyrosine kinase receptor, ROR2, mediates Wnt5A signaling in metastatic melanomaRobinow syndromeROR1, an embryonic protein with an emerging role in cancer biologyReceptor tyrosine kinase signaling: regulating neural crest development one phosphate at a timeThe receptor tyrosine kinase Ror2 associates with the melanoma-associated antigen (MAGE) family protein Dlxin-1 and regulates its intracellular distributionRor2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndromeUsing genome-wide expression profiling to define gene networks relevant to the study of complex traits: from RNA integrity to network topologyAvian facial morphogenesis is regulated by c-Jun N-terminal kinase/planar cell polarity (JNK/PCP) wingless-related (WNT) signaling.A new web-based data mining tool for the identification of candidate genes for human genetic disorders.Improved human disease candidate gene prioritization using mouse phenotypeStat3 activates the receptor tyrosine kinase like orphan receptor-1 gene in chronic lymphocytic leukemia cells.Dishevelled Paralogs in Vertebrate Development: Redundant or Distinct?Wnts' fashion statement: from body stature to dysplasia.Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound.Genetic disorders of the skeleton: a developmental approachDistinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).Molecular-pathogenetic classification of genetic disorders of the skeleton.The Caenorhabditis elegans Ror RTK CAM-1 inhibits EGL-20/Wnt signaling in cell migration.Novel domains of expression for orphan receptor tyrosine kinase Ror2 in the human and mouse reproductive systemWnt signaling gradients establish planar cell polarity by inducing Vangl2 phosphorylation through Ror2Omodysplasia: an affected mother and son.Ror receptor tyrosine kinases: orphans no more.ToppGene Suite for gene list enrichment analysis and candidate gene prioritizationExpression and function of the Ror-family receptor tyrosine kinases during development: lessons from genetic analyses of nematodes, mice, and humans.The genetic basis for skeletal diseases.DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.Anaesthetic implications of Robinow syndrome.Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.Planar cell polarity signaling in craniofacial development.ROR1 and ROR2 in Human Malignancies: Potentials for Targeted Therapy.Wnt-Frizzled/planar cell polarity signaling: cellular orientation by facing the wind (Wnt)The Wnt coreceptor Ryk regulates Wnt/planar cell polarity by modulating the degradation of the core planar cell polarity component Vangl2.Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease.Robinow syndrome: report of two cases and review of the literature.
P2860
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P2860
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
description
2000 nî lūn-bûn
@nan
2000 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Mutation of the gene encoding ...... mal recessive Robinow syndrome
@ast
Mutation of the gene encoding ...... mal recessive Robinow syndrome
@en
Mutation of the gene encoding ...... mal recessive Robinow syndrome
@nl
type
label
Mutation of the gene encoding ...... mal recessive Robinow syndrome
@ast
Mutation of the gene encoding ...... mal recessive Robinow syndrome
@en
Mutation of the gene encoding ...... mal recessive Robinow syndrome
@nl
prefLabel
Mutation of the gene encoding ...... mal recessive Robinow syndrome
@ast
Mutation of the gene encoding ...... mal recessive Robinow syndrome
@en
Mutation of the gene encoding ...... mal recessive Robinow syndrome
@nl
P2093
P356
P1433
P1476
Mutation of the gene encoding ...... mal recessive Robinow syndrome
@en
P2093
E F Percin
E van Beusekom
H G Brunner
H Kayserili
H van Bokhoven
P2888
P356
10.1038/78113
P407
P577
2000-08-01T00:00:00Z