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Goosecoid homeobox 2

GSCL, Goosecoid-like
Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development. [provided by RefSeq, Jul 2008] (from NCBI)
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Top mentioned proteins: Brachyury, ES2, Tsk1, SET, CAN
Papers on GSCL
Loss of Goosecoid-like and DiGeorge syndrome critical region 14 in interpeduncular nucleus results in altered regulation of rapid eye movement sleep.
Yanagisawa et al., Dallas, United States. In Proc Natl Acad Sci U S A, 2010
results indicate that the absence of Gscl and Dgcr14 in the IP results in altered regulation of REM sleep
Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome.
Wynshaw-Boris et al., San Diego, United States. In Neurogenetics, 2006
In this study, two mouse models of VCFS/DGS, a deletion mouse model (Lgdel/+) and a single gene model (Tbx1 +/-), as well as a third mouse mutant (Gscl -/-) for a gene within the Lgdel deletion, were tested in a large behavioral battery designed to assess gross physical features, sensorimotor reflexes, motor activity nociception, acoustic startle, sensorimotor gating, and learning and memory.
Mutation screening and LD mapping in the VCFS deleted region of chromosome 22q11 in schizophrenia using a novel DNA pooling approach.
Owen et al., Cardiff, United Kingdom. In Mol Psychiatry, 2001
We examined whether variation within six genes from the VCFS critical region at 22q11 (DGSC, Stk22A1, DGSI, Gscl, Slc25A1 and Znf74) confers susceptibility to schizophrenia.
Rnf4, a RING protein expressed in the developing nervous and reproductive systems, interacts with Gscl, a gene within the DiGeorge critical region.
Buck et al., Philadelphia, United States. In Dev Dyn, 2000
A yeast 2-hybrid screen was performed to identify possible transcriptional modulators interactive with goosecoid-like (gscl), a transcription factor with suppressive activity, expressed during early brain and gonad development.
Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse.
Wynshaw-Boris et al., Bethesda, United States. In Hum Mol Genet, 1999
The deletion spans a conserved portion ( approximately 150 kb) of the proximal region of the DGCR, containing at least seven genes ( Znf74l, Idd, Tsk1, Tsk2, Es2, Gscl and Ctp ).
Functional analysis of Gscl in the pathogenesis of the DiGeorge and velocardiofacial syndromes.
Behringer et al., Houston, United States. In Hum Mol Genet, 1998
Gscl encodes a Goosecoid-related homeodomain protein that is expressed during mouse embryogenesis.
Goosecoid-like (Gscl), a candidate gene for velocardiofacial syndrome, is not essential for normal mouse development.
Skoultchi et al., United States. In Hum Mol Genet, 1998
Goosecoid-like ( GSCL ) is a homeobox gene which is present in the VCFS/DGS commonly deleted region.
Goosecoid-like, a gene deleted in DiGeorge and velocardiofacial syndromes, recognizes DNA with a bicoid-like specificity and is expressed in the developing mouse brain.
Budarf et al., Philadelphia, United States. In Hum Mol Genet, 1998
We have identified a homeobox-containing gene, Goosecoid-like (GSCL), that is in the region within 22q11 that is deleted most consistently in patients with DGS/VCFS.
Gscl, a gene within the minimal DiGeorge critical region, is expressed in primordial germ cells and the developing pons.
Buck et al., Philadelphia, United States. In Dev Dyn, 1998
Gscl, a paired-type homeobox gene, has been implicated in the pathology of DGS/VCFS by virtue of its genomic location and its structural similarity to the Gsc gene family.
ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene.
Baldini et al., Houston, United States. In Hum Mol Genet, 1998
The Es2 expression domain in the pons is shared with a Goosecoid-like gene ( Gscl) which is located upstream of Es2 , and raises the possibility that the two genes share regulatory elements and/or interact in this region of the developing brain.
Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11.
Morrow et al., New York City, United States. In Genomics, 1998
A homeodomain-containing gene, Goosecoidlike (GSCL), has been recently described, and it resides in the critical region for VCFS/DGS on 22q11.
The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development.
Budarf et al., Philadelphia, United States. In Am J Hum Genet, 1997
In this report, we present the identification and characterization of a novel gene, GSCL, in the MDGCR, with homology to the homeodomain family of transcription factors.
A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region.
Buck et al., Philadelphia, United States. In Genome Res, 1997
Of particular interest are two serine/threonine kinase genes and a novel goosecoid-like homeobox gene (Gscl).
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