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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 (show CISH ELISA Kits)-acting expression quantitative trait locus of SHROOM3 that facilitates TGF-B1 signaling and contributes to allograft injury.
RESULTS: rs1260326 in GCKR (show GCKR ELISA Kits) (beta=1.30, P = 3.23E-03), rs17319721 in SHROOM3 (beta = -1.28, P-value = 3.18E-03) and rs12917707 in UMOD (show UMOD ELISA Kits) (beta = 2.0, P-value = 8.84E-04) were significantly associated with baseline estimated GFR (show RAPGEF5 ELISA Kits)
A recessive missense mutation in SHROOM3 is associated with heterotaxy syndrome.
Shroom3 has a role in apical constriction during lens pit (show IRF6 ELISA Kits) morphogenesis and is recruited in a pathway involving p120-catenin (show CTNND1 ELISA Kits)
findings reveal that Lulu is essential for Shroom3-dependent apical constriction during vertebrate neural tube closure
Shroom3 and N-cadherin (show CDH2 ELISA Kits) function cooperatively downstream of Pitx2 (show PITX2 ELISA Kits) to directly regulate cell shape changes necessary for early gut (show GUSB ELISA Kits) tube morphogenesis
Scaffold protein (show HOMER1 ELISA Kits) POSH (show SH3RF1 ELISA Kits), in association with Shroom3 and mixed lineage kinase LZK (show MAP3K13 ELISA Kits), relays axon outgrowth inhibition downstream of NogoA (show RTN4 ELISA Kits) and PirB (show LILRB3 ELISA Kits) proteins.
expression of Shroom3 is dependent on the crucial lens-induction transcription factor Pax6 (show PAX6 ELISA Kits)
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