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DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
TLDR
It is proposed that TBX1 in humans is a key gene in the etiology of DGS/VCFS, with mice heterozygous for the mutation having a high incidence of cardiac outflow tract anomalies, thus modeling one of the major abnormalities of the human syndrome.
Expression of the T‐box family genes, Tbx1–Tbx5, during early mouse development
TLDR
Examining the expression of 5 of these genes, Tbx1–Tbx5, across a wide range of embryonic stages from blastocyst through gastrulation and early organogenesis by in situ hybridization of wholemounts and tissue sections shows a good indication that the T‐box family of genes has important roles in inductive interactions in many stages of mammalian embryogenesis.
Uncoupling of Obesity from Insulin Resistance Through a Targeted Mutation in aP2, the Adipocyte Fatty Acid Binding Protein
TLDR
Results indicate that aP2 is central to the pathway that links obesity to insulin resistance, possibly by linking fatty acid metabolism to expression of TNF-α.
Differential growth of the mouse preimplantation embryo in chemically defined media.
TLDR
The total cell number of KSOM-cultured blastocysts indicates that 5-6 cell divisions are possible when embryos are cultured for 96 h from pronuclear zygotes, a significant improvement in performance over that of other defined media for the culture of zygote to blastocyst stage.
Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue
TLDR
This work proposes that huntingtin is involved in processes counterbalancing the operation of an apoptotic pathway, and shows that this protein is functionally indispensable for nullizygous embryos become developmentally retarded and disorganized, and die between days 8.5 and 10.5 of gestation.
Tbx2 is essential for patterning the atrioventricular canal and for morphogenesis of the outflow tract during heart development
TLDR
Molecular analysis reveals that Tbx2 is required to repress chamber differentiation in the atrioventricular canal at 9.5 days post coitus (dpc), and analysis of homozygous mutants also highlights a role for TbX2 during hindlimb digit development.
Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos.
TLDR
Observations with Brca1/Brca2 double nullizygotes raise the possibility that the two developmental pathways could be linked, and Interestingly, the impact of the Brca 1 or Brca2 null mutation is less severe in a p53 null background.
The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis.
TLDR
It is shown that branchiomeric muscle development is severely perturbed in Tbx1 mutant mice, and reduced TBX1 levels may contribute to pharyngeal hypotonia in del22q11.2 patients.
Three neural tubes in mouse embryos with mutations in the T-box gene Tbx6
TLDR
Results indicate that Tbx6 is needed for cells to choose between a mesodermal and a neuronal differentiation pathway during gastrulation; TbX6 is essential for the specification of posterior paraxial mesoderm, and in its absence cells destined to form posterior somites differentiate along a neuronal pathway.
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