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Putative transcription factor (By similarity)..
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that Bhlha9 regulates apical ectodermal ridge formation during limb/finger development.
Founder triplication of BHLHA9 is associated with femoral-tibial-digital malformations.
this is the first study revealing the underlying genetic factor for the development of GWC, and demonstrating the presence of triplications involving BHLHA9
BHLHA9 is identified as an essential player in the regulatory network governing limb morphogenesis in humans.
Here, we report on 13 new families presenting with ectrodactyly and harboring a BHLHA9 duplication.
BHLHA9 gene contribute to the phenotype of small 17p13.3 chromosomal duplication in Miller-Dieker syndrome
Genomic duplications encompassing BHLHA9 are associated with SHFLD and non-Mendelian inheritance characterised by a high degree of non-penetrance with sex bias.
Knock-down of bhlha9 in zebrafish causes severe reduction defects of the pectoral fin, indicating a role for this gene in limb development.
Putative transcription factor (By similarity).
, class A basic helix-loop-helix protein 9
, class B basic helix-loop-helix factor 42
, novel helix-loop-helix DNA-binding domain containing protein
, class F basic helix-loop-helix factor 42
, class II basic helix-loop-helix protein
, Class B basic helix-loop-helix factor 42