Molecular mechanisms connecting genotype and phenotype in Tbx1 deficiency

Thesis

ABSTRACT

Background: The 22q11 deletion syndrome (22q11DS), also known as DiGeorge Syndrome, affects ~1/5000 live born children. Congenital heart defects (typically outflow tract and interrupted aortic arch) are present in 75% of individuals with 22q11DS and are the major cause of mortality. Other defects are cleft palate, thymus hypoplasia, inner ear defects and neuropsychiatric abnormalities. Df(16)1 mice carry a ~1 Mb hemizygous deletion on mouse chromosome 16 in a region syntenic with...

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Authors: De Mesmaeker, JALN

• Publication date: 2012
• Type of award: DPhil
• Level of award: Doctoral
• Awarding institution: University of Oxford
• Language: English
• Keywords: Heart Development; Cardiovascular Disease; DiGeorge Syndrome; Tbx1 interaction network; T-box domain; MRI; Tbx1; Maternal High Fat Diet
• Subjects: Disease prevention; Development (zoology); Medical sciences; Cardiovascular disease; Biology (medical sciences); Molecular genetics; Genetics (medical sciences)