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抗Human SHROOM3 抗体:
Two protein-truncating de novo mutations in two independent cases in SHROOM3 strongly implicates this protein in severe human neural tube defects.
variants disrupting the actin-binding domain of SHROOM3 may cause podocyte effacement and impairment of the glomerular filtration barrier
The SNP rs17319721 functions as a cis (显示 CISH 抗体)-acting expression quantitative trait locus of SHROOM3 that facilitates TGF-B1 signaling and contributes to allograft injury.
RESULTS: rs1260326 in GCKR (显示 GCKR 抗体) (beta=1.30, P = 3.23E-03), rs17319721 in SHROOM3 (beta = -1.28, P-value = 3.18E-03) and rs12917707 in UMOD (显示 UMOD 抗体) (beta = 2.0, P-value = 8.84E-04) were significantly associated with baseline estimated GFR (显示 RAPGEF5 抗体)
A recessive missense mutation in SHROOM3 is associated with heterotaxy syndrome.
Shroom3 has a role in apical constriction during lens pit (显示 IRF6 抗体) morphogenesis and is recruited in a pathway involving p120-catenin (显示 CTNND1 抗体)
findings reveal that Lulu is essential for Shroom3-dependent apical constriction during vertebrate neural tube closure
Shroom3 and N-cadherin (显示 CDH2 抗体) function cooperatively downstream of Pitx2 (显示 PITX2 抗体) to directly regulate cell shape changes necessary for early gut (显示 GUSB 抗体) tube morphogenesis
Scaffold protein (显示 HOMER1 抗体) POSH (显示 SH3RF1 抗体), in association with Shroom3 and mixed lineage kinase LZK (显示 MAP3K13 抗体), relays axon outgrowth inhibition downstream of NogoA (显示 RTN4 抗体) and PirB (显示 LILRB3 抗体) proteins.
expression of Shroom3 is dependent on the crucial lens-induction transcription factor Pax6 (显示 PAX6 抗体)
In the invaginating neural plate/tube, Shroom3 colocalized with ROCKs at the apical junctions; Shroom3 depletion or RII-C1 expression in the tube removed these apically localized ROCKs, and concomitantly blocked neural tube closure.
Pitx proteins activate Shroom3 transcription and Pitx-responsive regulatory elements appeear in the genomic DNA upstream of Shroom3 in Xenopus.
Shroom family proteins govern epithelial cell behaviors by coordinating the assembly of both microtubule and actin cytoskeletons.
This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation.
shroom family member 3
, protein Shroom3-like
, F-actin-binding protein
, protein Shroom3
, shroom-related protein
, shroom-like protein