David T. Bonthron mostly deals with Genetics, Molecular biology, Gene, Genomic imprinting and Exon. His work on Aicardi–Goutières syndrome and Mutation is typically connected to Aicardi syndrome as part of general Genetics study, connecting several disciplines of science. His studies in Molecular biology integrate themes in fields like Response element, Reporter gene, Cell biology and Von Willebrand factor.
His research investigates the connection with Cell biology and areas like Gliosis which intersect with concerns in Internal medicine and Endocrinology. The Genomic imprinting study combines topics in areas such as Imprinting, NLRP7, Epigenetics and G alpha subunit. His Exon study combines topics in areas such as Regulation of gene expression, STX16 and Coding region.
His primary scientific interests are in Genetics, Molecular biology, Gene, Exon and Mutation. His work in Allele, Locus, Exome sequencing, Genomic imprinting and Sequence analysis is related to Genetics. In his work, Germline is strongly intertwined with Imprinting, which is a subfield of Genomic imprinting.
David T. Bonthron interconnects Nucleic acid sequence, Alternative splicing, Promoter, Gene mapping and Von Willebrand factor in the investigation of issues within Molecular biology. His study in Von Willebrand factor is interdisciplinary in nature, drawing from both Protein primary structure and Glycoprotein. His research investigates the connection between Exon and topics such as Homology that intersect with issues in Peptide sequence.
David T. Bonthron focuses on Genetics, Exome sequencing, Internal medicine, Endocrinology and Computational biology. His Genetics and Whole genome sequencing, Mutation, Genotype, Genetic testing and Gene duplication investigations all form part of his Genetics research activities. The various areas that David T. Bonthron examines in his Gene duplication study include Allele and Exon.
His research integrates issues of Nonsense mutation, Consanguinity and Craniofacial in his study of Exome sequencing. His study explores the link between Internal medicine and topics such as Fructose that cross with problems in Metabolic syndrome, Insulin resistance, Sucrose and Aldose reductase. In his research, Tubulin and Microtubule is intimately related to Knockout mouse, which falls under the overarching field of Endocrinology.
His main research concerns Genetics, Internal medicine, Endocrinology, Exome sequencing and Fructose. In his study, David T. Bonthron carries out multidisciplinary Genetics and Ciliary Motility Disorders research. David T. Bonthron has included themes like PDE10A and Phosphodiesterase in his Internal medicine study.
His work on Polyol pathway as part of his general Endocrinology study is frequently connected to Schizophrenia and Striatum, thereby bridging the divide between different branches of science. His work on Exome as part of general Exome sequencing research is frequently linked to Ubiquitin ligase, bridging the gap between disciplines. His Fructose research is multidisciplinary, incorporating perspectives in Metabolic syndrome, Metabolism and Endogeny.
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Correction: Corrigendum: Endogenous fructose production and metabolism in the liver contributes to the development of metabolic syndrome
Miguel A. Lanaspa;Takuji Ishimoto;Nanxing Li;Christina Cicerchi.
Nature Communications (2013)
Platelet-derived growth factor B chain promoter contains a cis-acting fluid shear-stress-responsive element.
N Resnick;T Collins;W Atkinson;D T Bonthron.
Proceedings of the National Academy of Sciences of the United States of America (1993)
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
Yanick J Crow;Yanick J Crow;Bruce E Hayward;Rekha Parmar;Peter Robins.
Nature Genetics (2006)
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Gillian I Rice;Jacquelyn Bond;Aruna Asipu;Rebecca L Brunette.
Nature Genetics (2009)
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
Yanick J Crow;Yanick J Crow;Andrea Leitch;Bruce E Hayward;Anna Garner.
Nature Genetics (2006)
Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization
David Ginsburg;David Ginsburg;Robert I. Handin;Robert I. Handin;David T. Bonthron;Timothy A. Donlon;Timothy A. Donlon.
Science (1985)
PDGF B-chain in neurons of the central nervous system, posterior pituitary, and in a transgenic model
Masakiyo Sasahara;Jochen W.U. Fries;Elaine W. Raines;Allen M. Gown.
Cell (1991)
Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins
Bruce E. Hayward;Veronica Moran;Lisa Strain;David T. Bonthron.
Proceedings of the National Academy of Sciences of the United States of America (1998)
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome
Gillian Rice;Teresa Patrick;Rekha Parmar;Claire F Taylor.
(2007)
The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins.
Bruce E. Hayward;Mamoru Kamiya;Lisa Strain;Veronica Moran.
Proceedings of the National Academy of Sciences of the United States of America (1998)
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