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study reveals the molecular basis for a novel somite lineage restriction mechanism (controlled by meox1) and defines a new paradigm in induction of definitive hematopoietic stem cells
The G > A p.Q84X mutation in the MEOX1 is identified in Klippel-Feil syndrome (show GDF6 Proteins).
We describe a multiplex consanguineous family in which isolated KFS (show GDF6 Proteins) maps to a single 17q21.31 locus that harbors a homozygous frameshift deletion in MEOX1; this deletion results in complete instability of the transcript
The results demonstrate that MEOX1 is a critical target gene and cofactor of PBX1 (show PBX1 Proteins) in ovarian cancers.
No mutations were identified in the PAX1 (show PAX1 Proteins) and MEOX1 exons or flanking intronic sequences, excluding them as likely causative genes for diaphanospondylodysostosis
MEOX1 and MEOX2 (show MEOX2 Proteins) activate p16(INK4a) in a DNA binding dependent manner, whereas they induce p21(CIP1/WAF1 (show CDKN1A Proteins)) in a DNA binding independent manner.
Meox1 expression is downregulated in the second arch of Hoxa2 (show HOXA2 Proteins) mouse mutant embryos.
Results demonstrate that Meox1 and Meox2 (show MEOX2 Proteins) genes function together and upstream of several genetic hierarchies that are required for the development of somites.
Data show that Meox1 activates the Bapx1 (show NKX3-2 Proteins) promoter in a dose-dependent manner and that this activity is enhanced in the presence of Pax1 (show PAX1 Proteins) and/or Pax9 (show PAX9 Proteins).
Meox and Gli (show GLI1 Proteins) have roles in skeletal myogenesis
Data sugges that Meox1 is part of a regulatory circuit that serves an essential, non-redundant function in the maintenance of rostro-caudal sclerotome polarity and axial skeleton formation.
This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the molecular signaling network regulating somite development. Alternatively spliced transcript variants encoding different isoforms have been described.
Mox-1 related protein
, homeobox protein MOX-1
, mesenchyme homeo box 1
, mesenchyme homeobox 1
, Homeobox protein MOX-1