|
Bonner, Samantha M; Pietropaolo, Susan L; Fan, Yong et al. (2012) Sequence variation in promoter of Ica1 gene, which encodes protein implicated in type 1 diabetes, causes transcription factor autoimmune regulator (AIRE) to increase its binding and down-regulate expression. J Biol Chem 287:17882-93
|
|
Huang, Hsien-Sung; Cheung, Iris; Akbarian, Schahram (2010) RPP25 is developmentally regulated in prefrontal cortex and expressed at decreased levels in autism spectrum disorder. Autism Res 3:153-61
|
|
Bush, Jason R; Wevrick, Rachel (2008) The Prader-Willi syndrome protein necdin interacts with the E1A-like inhibitor of differentiation EID-1 and promotes myoblast differentiation. Differentiation 76:994-1005
|
|
Lauriat, Tara L; Richler, Esther; McInnes, L Alison (2007) A quantitative regional expression profile of EAAT2 known and novel splice variants reopens the question of aberrant EAAT2 splicing in disease. Neurochem Int 50:271-80
|
|
Li, Rong; Johnson, Anne B; Salomons, Gajja S et al. (2006) Propensity for paternal inheritance of de novo mutations in Alexander disease. Hum Genet 119:137-44
|
|
Li, Rong; Johnson, Anne B; Salomons, Gajja et al. (2005) Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol 57:310-26
|
|
Hanel, Meredith L; Lau, Jason C Y; Paradis, Isabelle et al. (2005) Chromatin modification of the human imprinted NDN (necdin) gene detected by in vivo footprinting. J Cell Biochem 94:1046-57
|
|
Koukouritaki, Sevasti B; Poch, Mark T; Cabacungan, Erwin T et al. (2005) Discovery of novel flavin-containing monooxygenase 3 (FMO3) single nucleotide polymorphisms and functional analysis of upstream haplotype variants. Mol Pharmacol 68:383-92
|
|
Burwinkel, Barbara; Scott, John W; Buhrer, Christoph et al. (2005) Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Am J Hum Genet 76:1034-49
|
|
Currier, Sophie C; Lee, Christine K; Chang, Bernard S et al. (2005) Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. Am J Med Genet A 133A:53-7
|
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