000000670 001__ 670
000000670 005__ 20260102131130.0
000000670 0247_ $$2DOI$$a10.6083/M4930R4J
000000670 037__ $$aETD
000000670 245__ $$aA novel CRELD1/VEGF genetic interaction in heart disease and development
000000670 260__ $$bOregon Health and Science University
000000670 269__ $$a2011
000000670 336__ $$aDissertation
000000670 502__ $$bPh.D.
000000670 502__ $$gMolecular & Medical Genetics (sunsetting)
000000670 520__ $$aAtrioventricular septal defects (AVSD) are highly heritable, yet their genetic basis remains poorly understood. This study characterizes CRELD1 function using knockout mice and explores its interaction with VEGF in AVSD risk. Creld1(-/-) embryos exhibited early lethality with cardiovascular and endocardial cushion defects, implicating CRELD1 in heart development via apoptosis and vascular insufficiency. CRELD1(+/-) mice were normal, consistent with incomplete penetrance in humans. Genetic analysis revealed that VEGF-634C polymorphism strongly associates with AVSD and, combined with CRELD1 mutations, confers full penetrance. Functional assays confirmed CRELD1/VEGF interaction in abnormal cushion development, establishing the first proposed AVSD-risk profile.
000000670 540__ $$fCC BY
000000670 542__ $$fIn copyright - single owner
000000670 650__ $$aEpidemiology$$018518
000000670 650__ $$aGenetics, Medical$$019474
000000670 650__ $$aDevelopmental Biology$$028463
000000670 650__ $$aPenetrance$$031791
000000670 650__ $$aMice, Knockout$$030736
000000670 650__ $$aVascular Endothelial Growth Factor A$$035189
000000670 650__ $$aEndocardial Cushion Defects$$018406
000000670 650__ $$aAtrioventricular Septal Defect
000000670 650__ $$aHeart Defects, Congenital$$019936
000000670 6531_ $$aheart defects
000000670 691__ $$aSchool of Medicine$$041369
000000670 692__ $$aDepartment of Molecular and Medical Genetics$$041428
000000670 7001_ $$aRedig, Jennifer$$uOregon Health and Science University$$041354
000000670 8564_ $$925e5296e-93bc-46dd-85bc-1ae259d6078a$$s4304246$$uhttps://digitalcollections.ohsu.edu/record/670/files/671_etd.pdf$$ePublic$$2b67fcc971205f5d0c3057ecd29081a16$$31
000000670 905__ $$a/rest/prod/gb/19/f5/83/gb19f583j
000000670 909CO $$ooai:digitalcollections.ohsu.edu:670$$pstudent-work
000000670 980__ $$aTheses and Dissertations