14 Result(s)
within
Simon G. Gregory
Human Genetics
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Article
Open AccessGenetic, epigenetic, and environmental factors controlling oxytocin receptor gene expression
The neuropeptide oxytocin regulates mammalian social behavior. Disruptions in oxytocin signaling are a feature of many psychopathologies. One commonly studied biomarker for oxytocin involvement in psychiatric ...
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Article
Human centromere repositioning within euchromatin after partial chromosome deletion
Centromeres are defined by a specialized chromatin organization that includes nucleosomes that contain the centromeric histone variant centromere protein A (CENP-A) instead of canonical histone H3. Studies in ...
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Article
Open AccessIdentification of Chiari Type I Malformation subtypes using whole genome expression profiles and cranial base morphometrics
Chiari Type I Malformation (CMI) is characterized by herniation of the cerebellar tonsils through the foramen magnum at the base of the skull, resulting in significant neurologic morbidity. As CMI patients dis...
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Article
Gene–smoking interactions in multiple Rho-GTPase pathway genes in an early-onset coronary artery disease cohort
We performed a gene–smoking interaction analysis using families from an early-onset coronary artery disease cohort (GENECARD). This analysis was focused on validating and expanding results from previous studie...
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Article
Polymorphic variants in tenascin-C (TNC) are associated with atherosclerosis and coronary artery disease
Tenascin-C (TNC) is an extracellular matrix protein implicated in biological processes important for atherosclerotic plaque development and progression, including smooth muscle cell migration and proliferation. P...
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A general integrative genomic feature transcription factor binding site prediction method applied to analysis of USF1 binding in cardiovascular disease
Transcription factors are key mediators of human complex disease processes. Identifying the target genes of transcription factors will increase our understanding of the biological network leading to disease ri...
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Article
Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosis
Leukotrienes are arachidonic acid derivatives long known for their inflammatory properties and their involvement with a number of human diseases, most particularly asthma. Recently, leukotriene-based inflammat...
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Open AccessGenetic and functional association of FAM5C with myocardial infarction
We previously identified a 40 Mb region of linkage on chromosome 1q in our early onset coronary artery disease (CAD) genome-wide linkage scan (GENECARD) with modest evidence for linkage (n = 420, LOD 0.95). Wh...
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Article
Interleukin 7 receptor α chain ( IL7R ) shows allelic and functional association with multiple sclerosis
Multiple sclerosis is a demyelinating neurodegenerative disease with a strong genetic component. Previous genetic risk studies have failed to identify consistently linked regions or genes outside of the major ...
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Article
Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma
Substantial genomic and functional evidence from primary tumors and cell lines indicates that a consistent region of distal chromosome 1p is deleted in a sizable proportion of human neuroblastomas, suggesting ...
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Article
Organization of the MASP2 locus and its expression profile in mouse and rat
The mouse, rat, and human MASP2 loci are situated on syntenic chromosome regions and are highly conserved. They comprise the genes for MASP-2/MAp19, TAR DNA binding protein of 43 kDa, FRAP kinase, CDT6, Polymyosi...
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Article
Fine structure map** of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P
Familial cold autoinflammatory syndrome (FCAS) is an autosomal dominant inflammatory disease with a high degree of penetrance that is characterized by episodes of rash, arthralgia, fever, conjunctivitis, and ...
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Article
A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation
Ptosis is defined as droo** of the upper eyelid and can impair full visual acuity. It occurs in a number of forms including congenital bilateral isolated ptosis, which may be familial and for which two link...
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Article
An SSLP marker–anchored BAC framework map of the mouse genome
We have constructed a BAC framework map of the mouse genome consisting of 2,808 PCR-confirmed BAC clusters, using a previously described method1. Fingerprints of BACs from selected clusters confirm the accuracy o...
