Abstract

To systematically collect, store, and distribute brain and other tissues from research purposes. The tissues shall include those obtained premortem and postmortem from infants and children with developmental disorders and from normal controls who died accidentally.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research and Development Contracts (N01)
Project #
N01HD083284-002
Application #
6365918
Study Section
Project Start
1998-09-30
Project End
2000-09-29
Budget Start
2000-09-26
Budget End
2001-09-29
Support Year
Fiscal Year
2000
Total Cost
$608,914
Indirect Cost

  Institution

Name
University of Miami School of Medicine
Department
Psychiatry
Type
Schools of Medicine
DUNS #
City
Miami
State
FL
Country
United States
Zip Code
33146

  Publications

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

Showing the most recent 10 out of 36 publications