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The top single-nucleotide polymorphism (SNP) was rs17162912 (P=1.76 x 10(-8)), which is near the DISP1 gene on 1q41-q42, a microdeletion region implicated in neurological development.
DISP-1 is required for non-small cell lung carcinoma cells proliferation
Studies indicate that DISP1 haploinsufficiency may not be solely responsible for the major features of 1q41q42 microdeletion syndrome, and other genes in the SRO likely play a role in the phenotype.
report of 1st de novo DISP1 point mutation in patient with congenital diaphragmatic hernia (CDH (show CHDH Proteins)); finding with Disp1 embryonic mouse diaphragm and lung expression and previously reported 1q41q42 aberrations in CDH (show CHDH Proteins) suggests DISP1 may be CDH (show CHDH Proteins) candidate gene
describe two independent families with truncating mutations in DISP1 that resemble the cardinal (show CARD8 Proteins) craniofacial and neuro-developmental features of a recently described microdeletion syndrome that includes this gene
Shh (show SHH Proteins) signaling is required within the notochord to maintain Shh (show SHH Proteins) expression and to prevent notochord degeneration. Disp1, unlike Smo, is not required for this juxtacrine signaling by Shh (show SHH Proteins).
Disp is required for the movement of Hh protein from its sites of synthesis in mice
Disp1 has a role in sonic hedgehog (show SHH Proteins)-expressing cells for paracrine activity of the cholesterol-modified ligand
Disp1 regulates growth of mammalian long bones through the control of Indian hedgehog (show IHH Proteins) distribution.
Study shows that disp1 is required for post-migratory cranial neural crest cells (CNCC) to become properly patterned within the first arch, while the gene is dispensable for CNCC condensation and patterning in more posterior arches.
Disp1 activity is essential for the secretion of lipid-modified Hh proteins from midline structures.
The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A novel segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. This gene is one of two human homologs of Drosophila dispatched and, based on sequence identity to its mouse counterpart, the encoded protein may play an essential role in Hh patterning activities in the early embryo.
, dispatched homolog 1 (Drosophila)
, dispatched A
, protein dispatched homolog 1
, twelve-pass transmembrane protein
, dispatched 1
, protein chameleon