Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors
about
Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephalyCdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in miceSignals from the brain induce variation in avian facial shapeMesocortical Dopamine Phenotypes in Mice Lacking the Sonic Hedgehog Receptor CdonCdon promotes neural crest migration by regulating N-cadherin localization.Ethanol itself is a holoprosencephaly-inducing teratogen.Cdon acts as a Hedgehog decoy receptor during proximal-distal patterning of the optic vesicleBoc modifies the spectrum of holoprosencephaly in the absence of Gas1 functionHierarchical clustering of gene expression patterns in the Eomes + lineage of excitatory neurons during early neocortical developmentCDO, an Hh-coreceptor, mediates lung cancer cell proliferation and tumorigenicity through Hedgehog signalingLarge cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGHHomozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.The teratogenic effects of prenatal ethanol exposure are exacerbated by Sonic Hedgehog or GLI2 haploinsufficiency in the mouse.Cdo suppresses canonical Wnt signalling via interaction with Lrp6 thereby promoting neuronal differentiation.Overweight in mice and enhanced adipogenesis in vitro are associated with lack of the hedgehog coreceptor boc.Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactionsPhosphorylation of Stim1 at serine 575 via netrin-2/Cdo-activated ERK1/2 is critical for the promyogenic function of Stim1Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients.Syntaxin 4 regulates the surface localization of a promyogenic receptor Cdo thereby promoting myogenic differentiation.Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohortMeCP2 modulates gene expression pathways in astrocytesJacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis.NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos.A review of hedgehog signaling in cranial bone developmentDiet controls Drosophila follicle stem cell proliferation via Hedgehog sequestration and releaseEssential role for ligand-dependent feedback antagonism of vertebrate hedgehog signaling by PTCH1, PTCH2 and HHIP1 during neural patterning.Rescue of holoprosencephaly in fetal alcohol-exposed Cdon mutant mice by reduced gene dosage of Ptch1.Shh/Boc signaling is required for sustained generation of ipsilateral projecting ganglion cells in the mouse retina.Molecular analysis of holoprosencephaly in South America.Childhood medulloblastoma: the paradigm shift in molecular stratification and treatment profile.Toward a systems-level understanding of the Hedgehog signaling pathway: defining the complex, robust, and fragile.The Hedgehog signal transduction network.LRP2, an auxiliary receptor that controls sonic hedgehog signaling in development and disease.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.The Genetics of Fetal Alcohol Spectrum Disorders.Temozolomide resistance in glioblastoma occurs by miRNA-9-targeted PTCH1, independent of sonic hedgehog level.Distinct structural requirements for CDON and BOC in the promotion of Hedgehog signaling.Neogenin regulates Sonic Hedgehog pathway activity during digit patterning.Genetic interactions between the hedgehog co-receptors Gas1 and Boc regulate cell proliferation during murine palatogenesis.
P2860
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P2860
Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors
description
2011 nî lūn-bûn
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2011 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2011年の論文
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2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Mutations in CDON, encoding a ...... with other hedgehog receptors
@ast
Mutations in CDON, encoding a ...... with other hedgehog receptors
@en
Mutations in CDON, encoding a ...... with other hedgehog receptors
@nl
type
label
Mutations in CDON, encoding a ...... with other hedgehog receptors
@ast
Mutations in CDON, encoding a ...... with other hedgehog receptors
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Mutations in CDON, encoding a ...... with other hedgehog receptors
@nl
prefLabel
Mutations in CDON, encoding a ...... with other hedgehog receptors
@ast
Mutations in CDON, encoding a ...... with other hedgehog receptors
@en
Mutations in CDON, encoding a ...... with other hedgehog receptors
@nl
P2093
P2860
P921
P1476
Mutations in CDON, encoding a ...... with other hedgehog receptors
@en
P2093
Erich Roessler
Gyu-Un Bae
Jong-Sun Kang
Karen Schachter
Maximilian Muenke
Robert S Krauss
Sabina Domené
P2860
P304
P356
10.1016/J.AJHG.2011.07.001
P407
P577
2011-07-28T00:00:00Z