Uta Francke

Summary

Affiliation: Stanford University
Country: USA

Publications

  1. ncbi request reprint Mechanisms of disease: neurogenetics of MeCP2 deficiency
    Uta 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
  2. pmc SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice
    Feng Ding
    Department of Genetics, Stanford University, Stanford, California, USA
    PLoS ONE 3:e1709. 2008
  3. pmc Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing
    Uta Francke
    23andMe, Inc, Mountain View, CA, USA Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA
    Peerj 1:e8. 2013
  4. pmc Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome
    Birgitt Schule
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA
    BMC Med Genet 6:18. 2005
  5. pmc A Marfan syndrome gene expression phenotype in cultured skin fibroblasts
    Zizhen Yao
    Department of Pathology, University of Washington, Seattle, Washington 98195, USA
    BMC Genomics 8:319. 2007
  6. pmc Neonatal maternal deprivation response and developmental changes in gene expression revealed by hypothalamic gene expression profiling in mice
    Feng Ding
    Department of Genetics, Stanford University, Stanford, California, United States of America
    PLoS ONE 5:e9402. 2010
  7. pmc Genetic variants associated with breast size also influence breast cancer risk
    Nicholas Eriksson
    23andMe, Inc, Mountain View, CA 94043, USA
    BMC Med Genet 13:53. 2012
  8. pmc Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia
    Amy K Kiefer
    23andMe, Mountain View, California, United States of America
    PLoS Genet 9:e1003299. 2013
  9. doi request reprint Widespread changes in dendritic and axonal morphology in Mecp2-mutant mouse models of Rett syndrome: evidence for disruption of neuronal networks
    Pavel V Belichenko
    Neuroscience Institute at Stanford University, Stanford, CA 94305 5489, USA
    J Comp Neurol 514:240-58. 2009
  10. pmc Novel associations for hypothyroidism include known autoimmune risk loci
    Nicholas Eriksson
    23andMe, Inc, Mountain View, California, United States of America
    PLoS ONE 7:e34442. 2012

Collaborators

Detail Information

Publications29

  1. ncbi request reprint Mechanisms of disease: neurogenetics of MeCP2 deficiency
    Uta 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
    ....
  2. pmc SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice
    Feng 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...
  3. pmc Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing
    Uta Francke
    23andMe, Inc, Mountain View, CA, USA Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA
    Peerj 1:e8. 2013
    ....
  4. pmc Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome
    Birgitt 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)...
  5. pmc A Marfan syndrome gene expression phenotype in cultured skin fibroblasts
    Zizhen 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...
  6. pmc Neonatal maternal deprivation response and developmental changes in gene expression revealed by hypothalamic gene expression profiling in mice
    Feng 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...
  7. pmc Genetic variants associated with breast size also influence breast cancer risk
    Nicholas Eriksson
    23andMe, Inc, Mountain View, CA 94043, USA
    BMC Med Genet 13:53. 2012
    ..Breast size is moderately heritable, yet the genetic variants leading to differences in breast size have not been identified...
  8. pmc Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia
    Amy K Kiefer
    23andMe, Mountain View, California, United States of America
    PLoS Genet 9:e1003299. 2013
    ....
  9. doi request reprint Widespread changes in dendritic and axonal morphology in Mecp2-mutant mouse models of Rett syndrome: evidence for disruption of neuronal networks
    Pavel 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...
  10. pmc Novel associations for hypothyroidism include known autoimmune risk loci
    Nicholas Eriksson
    23andMe, Inc, Mountain View, California, United States of America
    PLoS ONE 7:e34442. 2012
    ..Using a genetic risk profile score based on the top association from each of the five genome-wide significant regions in our study, the relative risk between the highest and lowest deciles of genetic risk is 2.0...
  11. pmc DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency
    Birgitt 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...
  12. pmc Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets
    Charandle 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...
  13. pmc Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome
    Renata 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...
  14. pmc Efficient replication of over 180 genetic associations with self-reported medical data
    Joyce Y Tung
    23andMe, Inc, Mountain View, California, United States of America
    PLoS ONE 6:e23473. 2011
    ..Our data suggest that online collection of self-reported data from a recontactable cohort may be a viable method for both broad and deep phenotyping in large populations...
  15. pmc Comparison of family history and SNPs for predicting risk of complex disease
    Chuong B Do
    23andMe, Mountain View, California, USA
    PLoS Genet 8:e1002973. 2012
    ....
  16. pmc A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci
    David A Hinds
    23andMe, Inc, Mountain View, California, USA
    Nat Genet 45:907-11. 2013
    ..32 in the class II human leukocyte antigen (HLA) region (rs17533090, P = 1.7 × 10(-12)), which was strongly associated with cat allergy. Our study sheds new light on the shared etiology of immune and autoimmune disease. ..
  17. pmc Induced chromosome deletion in a Williams-Beuren syndrome mouse model causes cardiovascular abnormalities
    Craig 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...
  18. pmc Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice
    Hong 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...
  19. doi request reprint Comparative study of brain morphology in Mecp2 mutant mouse models of Rett syndrome
    Nadia 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...
  20. pmc Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease
    Chuong B Do
    23andMe, Mountain View, California, United States of America
    PLoS Genet 7:e1002141. 2011
    ....
  21. ncbi request reprint Ube3a expression is not altered in Mecp2 mutant mice
    Charandle 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...
  22. ncbi request reprint Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models
    Feng 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...
  23. ncbi request reprint NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21
    Joseph 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...
  24. pmc Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cells
    Natalina Quarto
    Department of Surgery, Stanford University School of Medicine, Stanford, CA 94305, USA
    Proc Natl Acad Sci U S A 109:215-20. 2012
    ....
  25. ncbi request reprint Identification of cis-regulatory elements for MECP2 expression
    Jinglan Liu
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA
    Hum Mol Genet 15:1769-82. 2006
    ....
  26. pmc Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation
    Birgitt Schule
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 5323, USA
    Am J Hum Genet 77:1117-28. 2005
    ....
  27. pmc Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes
    Iris 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...
  28. pmc An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism
    Lisa Edelmann
    J Med Genet 44:136-43. 2007
    ..The WBS CBP includes impaired visuospatial ability, an overly friendly personality, excessive non-social anxiety and language delay...
  29. pmc Normal histone modifications on the inactive X chromosome in ICF and Rett syndrome cells: implications for methyl-CpG binding proteins
    Stanley 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...