Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. - Wikidata - awgldk - TriplyDB

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

http://www.wikidata.org/entity/Q34144132

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The deleted in brachydactyly B domain of ROR2 is required for receptor activation by recruitment of Src Wnt signaling in development and disease Brachydactyly Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2 Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling WNT5A mutations in patients with autosomal dominant Robinow syndrome Complexes between the nonsense-mediated mRNA decay pathway factor human upf1 (up-frameshift protein 1) and essential nonsense-mediated mRNA decay factors in HeLa cells Homozygous 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 kinases Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense-mediated decay pathway.Double Nail of the Little Toe The receptor tyrosine kinase Ror2 associates with the melanoma-associated antigen (MAGE) family protein Dlxin-1 and regulates its intracellular distribution Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance.Stat3 activates the receptor tyrosine kinase like orphan receptor-1 gene in chronic lymphocytic leukemia cells.Genetic disorders of the skeleton: a developmental approach The Caenorhabditis elegans Ror RTK CAM-1 inhibits EGL-20/Wnt signaling in cell migration.Nonsense-mediated decay in genetic disease: friend or foe?Wnt signaling gradients establish planar cell polarity by inducing Vangl2 phosphorylation through Ror2 Ror receptor tyrosine kinases: orphans no more.Expression and function of the Ror-family receptor tyrosine kinases during development: lessons from genetic analyses of nematodes, mice, and humans.Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2).A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.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.The functions and possible significance of Kremen as the gatekeeper of Wnt signalling in development and pathology.Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.RNA surveillance: molecular approaches in transcript quality control and their implications in clinical diseases.NMD: RNA biology meets human genetic medicine.Mechanisms of digit formation: Human malformation syndromes tell the story.Wnt/planar cell polarity signaling: an important mechanism to coordinate growth and patterning in the limb.Wnt signaling through the Ror receptor in the nervous system.Embryology of familial (non-syndromic) brachydactyly of the hand.Mining Naïve Rabbit Antibody Repertoires by Phage Display for Monoclonal Antibodies of Therapeutic Utility.Prickle1 stunts limb growth through alteration of cell polarity and gene expression Familial digital arthropathy-brachydactyly.Craniofacial and intraoral phenotype of Robinow syndrome forms.RhoA/ROCK signaling suppresses hypertrophic chondrocyte differentiation.

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Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

http://www.wikidata.org/entity/Q34144132

description

2000 nî lūn-bûn

@nan

2000 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2000 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

2000年の論文

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2000年論文

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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

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

@ast

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

@en

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

@nl

type

label

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

@ast

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

@en

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

@nl

prefLabel

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

@ast

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

@en

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

@nl

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American Journal of Human Genetics

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Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

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C Buschow

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G C Schwabe

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G Gillessen-Kaesbach

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G Wolff

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M Oldridge

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P Meinecke

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R Kömec

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S Mundlos

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S Tinschert

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A novel family of cell surface receptors with tyrosine kinase-like domain

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

Ror2, encoding a receptor-like tyrosine kinase, is required for cartilage and growth plate development

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

A perfect message: RNA surveillance and nonsense-mediated decay

Genetics of limb anomalies in humans.

At least one intron is required for the nonsense-mediated decay of triosephosphate isomerase mRNA: a possible link between nuclear splicing and cytoplasmic translation.

Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.

Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity

Dror, a potential neurotrophic receptor gene, encodes a Drosophila homolog of the vertebrate Ror family of Trk-related receptor tyrosine kinases.

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10.1086/303084

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4

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Andrew Oliver Mungo Wilkie

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2000-09-12T00:00:00Z

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12336361

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