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Genomes and Genes | Uta FranckeSummaryAffiliation: Stanford University Country: USA Publications
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Publications
SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in miceFeng Ding
Department of Genetics, Stanford University, Stanford, California, USA
PLoS ONE 3:e1709. 2008..Prolonged mealtime and increased circulating ghrelin indicate a defect in meal termination mechanism. Snord116del mice, the first snoRNA deletion animal model, reveal a novel role for a non-coding RNA in growth and feeding regulation...- Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndromeBirgitt Schule
Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA
BMC Med Genet 6:18. 2005..To further dissect the PWS phenotype and define the minimal critical region for PWS features, we have studied a 22 year old male with a milder PWS phenotype and a de novo translocation t(4;15)(q27;q11.2)... - A Marfan syndrome gene expression phenotype in cultured skin fibroblastsZizhen Yao
Department of Pathology, University of Washington, Seattle, Washington 98195, USA
BMC Genomics 8:319. 2007..This syndrome constitutes a significant identifiable subtype of aortic aneurysmal disease, accounting for over 5% of ascending and thoracic aortic aneurysms... 
Mechanisms of disease: neurogenetics of MeCP2 deficiencyUta Francke
Department of Genetics, Stanford University School of Medicine, Beckman Center for Molecular and Genetic Medicine B201, Stanford, CA 94305 5323, USA
Nat Clin Pract Neurol 2:212-21. 2006....- Neonatal maternal deprivation response and developmental changes in gene expression revealed by hypothalamic gene expression profiling in miceFeng Ding
Department of Genetics, Stanford University, Stanford, California, United States of America
PLoS ONE 5:e9402. 2010..Notably, the gene expression profiles of Snord116del deletion mice and wild-type littermates were very similar at all time points and conditions, arguing against a role of Snord116 in feeding regulation in the neonatal period... 
Widespread changes in dendritic and axonal morphology in Mecp2-mutant mouse models of Rett syndrome: evidence for disruption of neuronal networksPavel V Belichenko
Neuroscience Institute at Stanford University, Stanford, CA 94305 5489, USA
J Comp Neurol 514:240-58. 2009..Electron microscopy confirmed abnormalities in dendrites and axons and showed abnormal mitochondria. Our findings document widespread abnormalities of dendrites and axons that recapitulate those seen in RTT...- DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiencyBirgitt Schule
Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA
Am J Hum Genet 81:492-506. 2007..Our results confirm that MeCP2 plays no role in the maintenance of genomic imprinting and add PEG3 and PEG10 to the list of studied imprinted genes... - Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targetsCharandle Jordan
Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 5323, USA
BMC Med Genet 8:36. 2007..Most mutations occur de novo during spermatogenesis. Located at Xq28, MECP2 is subject to X inactivation, and affected females are mosaic. Rare hemizygous males suffer from a severe congenital encephalopathy... - Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndromeRenata C Gallagher
Department of Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA
Am J Hum Genet 71:669-78. 2002..These results are consistent with the hypothesis that loss of expression of the snoRNAs in the proposed minimal critical region confers much or all of the phenotype of PWS... - Induced chromosome deletion in a Williams-Beuren syndrome mouse model causes cardiovascular abnormalitiesCraig J Goergen
Department of Bioengineering, Stanford University School of Medicine, Stanford, Calif, USA
J Vasc Res 48:119-29. 2011..5-Mb deletion. The aim of this study was to determine how the genetic changes in a Wbs mouse model alter Eln expression, blood pressure, vessel structure, and abdominal aortic wall dynamics in vivo... - Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in miceHong Hua Li
Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA
EMBO Mol Med 1:50-65. 2009..Together, these partial deletion mice replicate crucial aspects of the human disorder and serve to identify genes and gene networks contributing to the neural substrates of complex behaviours and behavioural disorders... - Comparative study of brain morphology in Mecp2 mutant mouse models of Rett syndromeNadia P Belichenko
Department of Genetics, Stanford University, Stanford, California 94305 5489, USA
J Comp Neurol 508:184-95. 2008..These observations provide the underpinning for studies to further define microarchitectural and physiological consequences of MECP2 deficiency... - Ube3a expression is not altered in Mecp2 mutant miceCharandle Jordan
Department of Genetics, Stanford University School of Medicine, CA 94305 5323, USA
Hum Mol Genet 15:2210-5. 2006..We, therefore, challenge the conclusion that decreased UBE3A/Ube3a expression contributes to the pathophysiology of RTT... - Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse modelsFeng Ding
Department of Genetics, Stanford University, Stanford, California 94305, USA
Mamm Genome 16:424-31. 2005..Taking together all available data, we conclude that the lack of Pwcr1/MBII-85 snoRNA expression is the most likely cause for the neonatal lethality in PWS model mice... - NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21Joseph R Arron
Department of Pathology, Stanford University School of Medicine, Stanford, California 94305, USA
Nature 441:595-600. 2006..More generally, these observations suggest that the destabilization of regulatory circuits can underlie human disease... - Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cellsNatalina Quarto
Department of Surgery, Stanford University School of Medicine, Stanford, CA 94305, USA
Proc Natl Acad Sci U S A 109:215-20. 2012.... - Identification of cis-regulatory elements for MECP2 expressionJinglan Liu
Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA
Hum Mol Genet 15:1769-82. 2006.... - Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypesIris Schrijver
Howard Hughes Medical Institute, Stanford University Medical Center, Stanford, CA 94305-5323, USA
Am J Hum Genet 71:223-37. 2002..We conclude that PTC mutations have a major impact on the pathogenesis of type 1 fibrillinopathies and convey a distinct biochemical, clinical, and prognostic profile... - Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlationBirgitt Schule
Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 5323, USA
Am J Hum Genet 77:1117-28. 2005.... - Normal histone modifications on the inactive X chromosome in ICF and Rett syndrome cells: implications for methyl-CpG binding proteinsStanley M Gartler
Department of Medicine, University of Washington, Seattle, WA, USA
BMC Biol 2:21. 2004..In addition, we determined whether a specific methyl-CpG binding protein, MeCP2, is necessary for the inactive X histone modification pattern by studying Rett syndrome cells which are deficient in MeCP2 function... - An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autismLisa Edelmann
J Med Genet 44:136-43. 2007..Symptoms of autism in this case may be due to deletion of additional genes outside the typical WBS interval or remote effects on gene expression at other loci...