M LalandeSummaryAffiliation: University of Connecticut Health Center Country: USA Publications
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Molecular epigenetics of Angelman syndromeM Lalande
Department of Genetics and Developmental Biology, University of Connecticut School of Medicine, Farmington, CT 06030 3301, USA
Cell Mol Life Sci 64:947-60. 2007....
The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal regionP Jay
Centre de Recherches de Biochimie Macromoleculaire, CNRS ERS 115, INSERM U 249, Montpellier, France
Nat Genet 17:357-61. 1997..A complete lack of NDN expression in PWS brain and fibroblasts indicates that the gene is expressed exclusively from the paternal allele in these tissues and suggests a possible role of this new gene in PWS...
The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brainC Rougeulle
Nat Genet 17:14-5. 1997
UBE3A/E6-AP mutations cause Angelman syndromeT Kishino
Genetics Division, Children s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
Nat Genet 15:70-3. 1997..Our results demonstrate that UBE3A mutations are one cause of AS and indicate a possible abnormality in ubiquitin-mediated protein degradation during brain development in this disease...
FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regionsJ H Knoll
Genetics Division, Children s Hospital, Boston, MA 02115
Hum Mol Genet 2:183-9. 1993..Our results provide a framework map of chromosome 15q11-q13 into which additional markers can be oriented and allow a further differentiation of the critical genetic regions of the two syndromes...
High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patientsD Sinnett
Genetics Division, Children s Hospital, Boston, MA 02115
Am J Hum Genet 52:1216-29. 1993..These findings will facilitate chromosomal walking strategies for cloning the regions disrupted by the DNA rearrangements in these AS patients and will be valuable for mapping new genes to the AS chromosomal region...
Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal regionJ H Knoll
Division of Genetics, Children s Hospital Harvard Medical School, Boston, Massachusetts 02115
Nat Genet 6:41-6. 1994..At the most distal locus examined, D15S12, both patterns of allele-specific replication timing were detected...
The syntenic relationship between the critical deletion region for the Prader-Willi/Angelman syndromes and proximal mouse chromosome 7J R Chaillet
Department of Genetics, Harvard Medical School, Boston, Massachusetts
Genomics 11:773-6. 1991..Because the Prader-Willi and Angelman syndromes are postulated to result from genomic imprinting within the common deletion, these probes may define a genomically imprinted region on mouse chromosome 7...
Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit geneS Saitoh
Lancet 339:366-7. 1992
The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi regionI Boccaccio
INSERM U491, Faculte de Medecine, 27 Boulevard Jean Moulin, F 13385 Marseille Cedex 5, France
Hum Mol Genet 8:2497-505. 1999..Moreover, MAGEL2 / Magel2 are expressed only from the paternal allele in brain, suggesting a potential role in the aetiology of PWS and its mouse model, respectively...
Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organizationJ Cavaille
Laboratoire de Biologie Moléculaire Eukaryote du Centre National de la Recherche Scientifique, Universite Paul Sabatier, Toulouse, 31062 France
Proc Natl Acad Sci U S A 97:14311-6. 2000..Instead, brain-specific C/D box snoRNA HBII-52 has an 18-nt phylogenetically conserved complementarity to a critical segment of serotonin 2C receptor mRNA, pointing to a potential role in the processing of this mRNA...
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical regionT Ozcelik
Howard Hughes Medical Institute, Stanford University School of Medicine, California 94305
Nat Genet 2:265-9. 1992..The fact that the mouse Snrpn gene is maternally imprinted in brain suggests that loss of the paternally derived SNRPN allele may be involved in the PWS phenotype...
