ArticleAmerican journal of human genetics1997
The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 66 citations in OpenAlex.
- Loss of Goosecoid-like and DiGeorge syndrome critical region 14 in interpeduncular nucleus results in altered regulation of rapid eye movement sleep.Proceedings of the National Academy of Sciences of the United States of America · 2010Article
- Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2.Molecular and cellular biochemistry · 2007Article
- Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios.American journal of human genetics · 2005Article
- Subnuclear localization and mitotic phosphorylation of HIRA, the human homologue of Saccharomyces cerevisiae transcriptional regulators Hir1p/Hir2p.The Biochemical journal · 2001Article
- The DiGeorge anomaly.Clinical reviews in allergy & immunology · 2001Review
- Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortion.American journal of human genetics · 1999Article
- Comparative sequence of human and mouse BAC clones from the mnd2 region of chromosome 2p13.Genome research · 1999Article
- Juvenile rheumatoid arthritis and del(22q11) syndrome: a non-random association.Journal of medical genetics · 1998Article
- Core histones and HIRIP3, a novel histone-binding protein, directly interact with WD repeat protein HIRA.Molecular and cellular biology · 1998Article
- Direct selection of conserved cDNAs from the DiGeorge critical region: isolation of a novel CDC45-like gene.Genome research · 1998Article
- Goosecoid-like sequences and the smallest region of deletion overlap in DiGeorge and velocardiofacial syndromes.American journal of human genetics · 1997Article
- Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation.Mammalian genome : official journal of the International Mammalian Genome Society · 1997Article
- Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.American journal of human genetics · 1997Article
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7 authors at 1 institution in 1 country.
Funding
Abstract
The majority of patients with DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) have deletions of chromosomal region 22q11.2. The abnormalities observed in these patients include conotruncal cardiac defects, thymic hypoplasia or aplasia, hypocalcemia, and characteristic facial features. To understand the genetic basis of these disorders, we have characterized genes within the region that is most consistently deleted in patients with DGS/VCFS, the minimal DiGeorge critical region (MDGCR). 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. Further, we provide evidence that this gene is expressed in a limited number of adult tissues as well as in early human development. The identification of GSCL required a genomic sequence-based approach because of its restricted expression and high GC content. The early expression, together with the known role of homeobox-containing proteins in development, make GSCL an outstanding candidate for some of the abnormalities seen in DGS/VCFS.
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9150167PMC1712429W1535243387What OpenQuestion holds
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