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AAV8-Mediated Gene Therapy Rescues Retinal Degeneration Phenotype in a Tlcd3b Knockout Mouse Model. Invest Ophthalmol Vis Sci. 2022 ;63(3):11.
. AAV8(Y733F)-mediated gene therapy in a Spata7 knockout mouse model of Leber congenital amaurosis and retinitis pigmentosa. Gene Ther. 2015 ;22(8):619-27.
. Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency. Blood. 2021 ;137(4):493-499.
. Age-related changes in the rhesus macaque eye. Exp Eye Res. 2021 ;212:108754.
. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature. 2003 ;423(6939):506-11.
. Baboons as an animal model for genetic studies of common human disease. Am J Hum Genet. 1997 ;61(3):489-93.
. Beyond one gene-one disease: alternative strategies for deciphering genetic determinants of osteoporosis. Calcif Tissue Int. 1997 ;60(3):225-8.
. Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish. Nat Commun. 2019 ;10(1):708.
. Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway. Nat Neurosci. 2004 ;7(2):113-7.
. Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice. Exp Eye Res. 2018 ;166:120-130.
. CRHR1 genotypes, neural circuits and the diathesis for anxiety and depression. Mol Psychiatry. 2013 ;18(6):700-7.
. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 ;100(2):352-363.
. Dicer-mediated upregulation of BCRP confers tamoxifen resistance in human breast cancer cells. Clin Cancer Res. 2011 ;17(20):6510-21.
. Disruptive TP53 mutation is associated with aggressive disease characteristics in an orthotopic murine model of oral tongue cancer. Clin Cancer Res. 2011 ;17(21):6658-70.
. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 ;159(1):200-214.
. Durable sequence stability and bone marrow tropism in a macaque model of human pegivirus infection. Sci Transl Med. 2015 ;7(305):305ra144.
. Effects of Enterococcus faecalis fsr genes on production of gelatinase and a serine protease and virulence. Infect Immun. 2000 ;68(5):2579-86.
. . Fine mapping and characterization of candidate lung tumor resistance genes for the Par2 locus on mouse chromosome 18. Exp Lung Res. 2000 ;26(8):627-39.
. FMR2 function: insight from a mouse knockout model. Cytogenet Genome Res. 2003 ;100(1-4):129-39.
. Gene augmentation therapy to rescue degenerative photoreceptors in a Cwc27 mutant mouse model. Exp Eye Res. 2023 ;234:109596.
. Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice. Hum Gene Ther. 2019 ;30(3):302-315.
. Generation and testing of mutants of Enterococcus faecalis in a mouse peritonitis model. J Infect Dis. 1998 ;178(5):1416-20.
. The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo. Neurobiol Dis. 2006 ;21(3):549-55.
. Genetic architecture of adiposity and organ weight using combined generation QTL analysis. Obesity (Silver Spring). 2008 ;16(8):1861-8.
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