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This second report of maculopathy associated with a heterozygous mutation in OTX2 confirms that mutations in OTX2 should be considered in the differential diagnosis of atypical hereditary maculopathy, with or without rod-cone dystrophy.
OTX2 acts as a pioneer factor and, in cooperation with NEUROD1, controls the group 3 medulloblastoma active enhancer landscape.
Syndromic microphthalmia due to mutations in OTX2 can present with significant intrafamilial phenotypic variability.
Our data refine the clinical spectrum associated with OTX2 mutations and suggests that OTX2 haploinsufficiency should be considered as a possible cause for isolated mandibular dysostosis.
One subgroup of atypical teratoid rhabdoid tumors was characterized by high expression of OTX2.
TNF-alpha (zeige TNF Proteine), secreted from activated Monocytes, mediates the downregulation of OTX2 and essential retinal pigment epithelium genes.
OTX1 and OTX2 genes might have a role in the pathogenesis of different types of sinonasal neoplasms.
OTX2 gene frameshift mutation is associated with microphthalmia, ectopic pituitary and growth hormone deficiency.
OTX2 mutations can cause ACTH (zeige POMC Proteine) deficiency in the neonatal period. Study also shows that OTX2 mutations are associated with agenesis of the Left Internal Carotid Artery.
A novel pathogenic variant in OTX2, c.651delC, p.(Thr218Hisfs*76) identified in a patient with syndromic bilateral anophthalmia .
Otx2 orchestrates cell proliferation, anteroposterior patterning and eye formation via its phosphorylation state.
barH-like homeobox-2 (zeige BARHL2 Proteine) gene barhl2 (zeige BARHL2 Proteine) acts downstream of orthodentricle-2 and together with iroquois-3 in establishment of the caudal forebrain signaling center induced by Sonic Hedgehog (zeige SHH Proteine)
While otx2 and otx5 are both capable to promote cement gland formation, otx1 is not.
direct interaction and interdependence between the Otx2 and Sox2 (zeige SOX2 Proteine) proteins coordinate Rax (zeige RAX Proteine) expression in eye development, providing molecular linkages among the genes responsible for ocular malformation.
Lbh-like is a new regulator of photoreceptor differentiation directly through modulating otx2 expression in zebrafish.
These findings suggest that one or more Otx targets in addition to mitfa (zeige MITF Proteine) and mitfb (zeige MITF Proteine), possibly another mitf (zeige MITF Proteine) family member, are necessary for development of the retinal pigmented epithelium in zebrafish.
In vertebrates, the Otx2 promoter acquires multiple, spatiotemporally specific cis (zeige CISH Proteine)-regulators in order to precisely control highly coordinated processes in head development.
The Zona limitans intrathalamica is induced within the competence area established by Otx1l/2, and is posteriorly restricted by Irx1b.
Transient juvenile-but not adult-knockdown of Otx2 in VTA mimics early life stress by increasing stress susceptibility, whereas its overexpression reverses the effects of early life stress
we confirmed that the activation of OTX2, a determinant of DA neuron development and the expression of which is induced by thyroid hormone (zeige PTH Proteine), is dependent on TRPC1 (zeige TRPC1 Proteine)-mediated calcium signaling.
These results suggest that tau haploinsufficiency, without the compensation effect of MAP1A (zeige MAP1A Proteine), induces reduction of Otx2 expression, increases prenatal cell death, and accordingly leads to selective loss of VTA DA neurons in the early postnatal stage.
Otx2-mediated Nanog (zeige NANOG Proteine) regulation contributes to the integrity of the embryonic stem cell state and cell lineage specification in preimplantation development (zeige MTA2 Proteine).
Our genetic model reveals that non-cell autonomous Otx2 regulates plasticity broadly across cortical modalities. In Otx2+/AAmice, PV+ cell maturation was delayed throughout the neocortex and ectopic windows of cortical plasticity arose in occipital, parietal and frontal areas, including A1 and mPFC.
Postnatal secretion of this single-chain antibody by PV cells delays PV maturation and reduces plasticity gene expression. Induced adult expression of this single-chain antibody in cerebrospinal fluid decreases Otx2 internalization by PV cells, strongly induces plasticity gene expression and reopens physiological plasticity.
bipolar cell subpopulation imports Otx2 protein from photoreceptors to protect itself from glutamate (zeige GRIN1 Proteine) excitotoxicity in the dark.
The Hmga2 gene is activated by Otx2 and Hmga2 protein binds to the enhancers targeted by Otx2, thus facilitating the engagement and/or the stable association of Otx2.
the Otx2 interactome in the adult neural retina
Otx2S is a novel variant of the Otx2 gene with a deletion within the homeodomain sequence. Otx2S is expressed in both the neural retina and retinal pigmented epithelium, and encodes a protein that is targeted to the nucleus.
This gene encodes a member of the bicoid subfamily of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and plays a role in brain, craniofacial, and sensory organ development. The encoded protein also influences the proliferation and differentiation of dopaminergic neuronal progenitor cells during mitosis. Mutations in this gene cause syndromic microphthalmia 5 (MCOPS5) and combined pituitary hormone deficiency 6 (CPHD6). This gene is also suspected of having an oncogenic role in medulloblastoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Pseudogenes of this gene are known to exist on chromosomes two and nine.
homeobox protein OTX2
, orthodenticle homolog 2
, orthodenticle homeobox protein 2
, homeobox Otx2
, homeobox protein OTX2-A
, orthodenticle 2-A
, orthodenticle-A-like protein A