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These data provide the first evidence for a physiologic role of these isoforms in RET (show RET ELISA Kits) pathway function.
Significantly, we show that introduction of mapk10 (show MAPK10 ELISA Kits) mutations into ret (show RET ELISA Kits) heterozygotes enhanced the ENS deficit, supporting MAPK10 (show MAPK10 ELISA Kits) as a Hirschsprung disease (HSCR (show EDNRB ELISA Kits)) susceptibility locus. Our studies demonstrate that ret (show RET ELISA Kits) heterozygous zebrafish is a sensitized model, with many significant advantages over existing murine models, to explore the pathophysiology and complex genetics of HSCR (show EDNRB ELISA Kits).
These data support a model by which vsx2, operating through the effector gene opo, acts as a central transcriptional node that coordinates neural retina patterning and optic cup invagination in zebrafish.
Mutual antagonism of the paired-type homeobox (show PRRX1 ELISA Kits) genes, vsx2 and dmbx1, regulates retinal progenitor cell cycle exit upstream of ccnd1 (show CCND1 ELISA Kits) expression.
RET (show RET ELISA Kits) expression is investigated within the brain of zebrafish; both RET (show RET ELISA Kits) protein and mRNA are observed.
In animals lacking Ret (show RET ELISA Kits) or Gfra3 (show GFRA3 ELISA Kits) function, myogenic gene expression is reduced in forming opercular muscles, but not in non-opercular muscles derived from the same muscle anlagen.
evaluation of noncoding sequences at the zebrafish ret (show RET ELISA Kits) locus conserved among teleosts, and at the human RET (show RET ELISA Kits) locus, conserved among mammals
genes beyond RET (show RET ELISA Kits) may be implicated in the genesis of sporadic cases of HD
Vsx2-positive RPCs are fully multipotent retinal progenitors and that when Vsx2 is downregulated, Vsx2-negative progenitors escape Vsx2 repression and so are able to express factors that restrict lineage potential.
The phenotype of this girl is unique and suggests a normal regulatory role for VSX2 in iris, zonule, and cone-rod development.
The role of visual system homeobox 2 (VSX2), using human induced pluripotent stem cells derived from a patient with microphthalmia caused by an R200Q mutation in the VSX2 homeodomain region, is reported.
Mutations in VSX2 represent an important cause of autosomal recessive microphthalmia in consanguineous pedigrees.
study identified 3 recessive VSX2 mutations associated with isolated congenital anophthalmia or severe microphthalmia; also identified a novel inner retinal dystrophy (show MERTK ELISA Kits) in 2 carrier parents suggesting a semidominant effect for this particular VSX2 mutation
major differentiation factors of the NK-cell lineage, including HOXA9, HOXA10 and ID2, were (de)regulated via PRC2 which therefore contributes to T-cell leukemogenesis.
CHX10 regulates RdCVF promoter activity in the inner retina.
CHX10 and VSX1 (show VSX1 ELISA Kits) may control retinal bipolar cell specification or differentiation by repressing genes required for the development of other cell types
CHX10 may target specific motifs to inhibit rod photoreceptor gene expression in bipolar cells
CHX10 defects in microphthalmia/anophthalmia patiients of midle-eastern origin are because od shared ancestry and consanguinity.
These results support the role of SOX2 in ocular development. Loss of SOX2 function results in severe eye malformation. CHX10 was not implicated with microphthalmia/anophthalmia in our patient cohort.
Vsx2 represses Mitf (show MITF ELISA Kits) in a cell-autonomous way. It also uses cell-nonautonomous mechanisms to regulate progenitor properties in the embryonic retina. Vsx2's role in regulating Mitf (show MITF ELISA Kits) is in part separable from its role in promoting proliferation.
The results of this study suggested that Lhx3/Chx10 medullary reticular formation neurons are involved in locomotion.
Our data suggest that the phenotypic severity of the CVC mutant depends on the weakened DNA binding activity elicited by the CVC mutation and a previously unknown protein interaction between Vsx2 and its regulatory target Mitf (show MITF ELISA Kits).
analysis of the regulatory role of a conserved motif adjacent to the homeodomain of Hox10 proteins
Reducing GDF11 (show GDF11 ELISA Kits) levels might promote restoration of retinal development in the microophthalmic Vsx2 mutant mouse.
Data demonstrate that Hox10 genes play a critical role in the developing kidney.
Blimp1 may play a role in photoreceptor development by repressing genes involved in bipolar cell fate specification and retinal cell proliferation in differentiating precursors; Blimp1 can bind to the Chx10 enhancer and repress Chx10 enhancer activity
Genetic rescue of cell number in a mouse model of microphthalmia: interactions between Chx10 and G1-phase cell cycle regulator p27(Kip1 (show CDKN1B ELISA Kits)).
results have shown that the Hox10 and Hox11 (show TLX1 ELISA Kits) paralogous genes are global regulators of the lumbosacral region of the axial skeleton and are integral in patterning principal limb elements
This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities.
visual system homeobox 2
, visual system homeobox 2-like
, ceh-10 homeo domain containing homolog
, ceh-10 homeodomain containing homolog
, proto-oncogene tyrosine-protein kinase receptor Ret
, receptor tyrosine kinase
, ceh-10 homeodomain-containing homolog
, homeobox protein CHX10
, C. elegans ceh-10 homeo domain containing homolog
, ocular retardation
, homeobox protein Chx10
, homeobox protein ALX
, transcription factor VSX2