Stephen G Kaler

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Safety of intracerebroventricular copper histidine in adult rats
    Kristen E Lem
    Unit on Pediatric Genetics, Laboratory of Clinical Genomics, National Institute of Child Health and Human Development, Bethesda, MD, USA
    Mol Genet Metab 91:30-6. 2007
  2. pmc Internal jugular phlebectasia in Menkes disease
    David J Price
    New York Medical College, Valhalla, NY, USA
    Int J Pediatr Otorhinolaryngol 71:1145-8. 2007
  3. pmc Neonatal diagnosis and treatment of Menkes disease
    Stephen G Kaler
    Unit on Pediatric Genetics, Program in Molecular Medicine, National Institute of Child Health and Human Development, National Institutes of Health, Bldg 10, Rm 5 2571, 10 Center Dr, MSC 1832, Bethesda, MD 20892 1832
    N Engl J Med 358:605-14. 2008
  4. pmc Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome
    Anthony Donsante
    Unit on Pediatric Genetics, Laboratory of Clinical Genomics, National Institute of Child Health and Human Development, Bethesda, MD20892 1832, USA
    J Med Genet 44:492-7. 2007
  5. pmc ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model
    Anthony Donsante
    Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1853, USA
    Mol Ther 19:2114-23. 2011
  6. pmc Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R
    Jingrong Tang
    Unit on Pediatric Genetics, Program in Molecular Medicine, National Institute of Child Health and Human Development, Bethesda, MD 20892 1832, USA
    Mol Genet Metab 95:174-81. 2008
  7. pmc In utero copper treatment for Menkes disease associated with a severe ATP7A mutation
    Marie Reine Haddad
    Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1853, USA
    Mol Genet Metab 107:222-8. 2012
  8. pmc Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain
    Anthony Donsante
    Unit on Human Copper Metabolism, Molecular Medicine Program, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1853, USA
    Am J Med Genet A 152:2529-34. 2010
  9. pmc Molecular correlates of epilepsy in early diagnosed and treated Menkes disease
    Stephen G Kaler
    Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1853, USA
    J Inherit Metab Dis 33:583-9. 2010
  10. ncbi request reprint Functional copper transport explains neurologic sparing in occipital horn syndrome
    Jingrong Tang
    Unit on Pediatric Genetics, Laboratory of Clinical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1832, USA
    Genet Med 8:711-8. 2006

Collaborators

  • Po Ching Liu
  • David S Goldstein
  • Yi Wen Chen
  • Laura A Jansen
  • Dorothy K Grange
  • Anthony Donsante
  • Jingrong Tang
  • Sarah C Godwin
  • Jose A Centeno
  • Vishal Desai
  • Kristen E Lem
  • Suvimol C Hill
  • Marie Reine Haddad
  • Courtney S Holmes
  • Lauren R Brinster
  • David J Price
  • Alice T Gasch
  • Beryl E Jacobson
  • Willam A Gahl
  • Andrew J Dwyer
  • Edwina J Popek
  • Charles J Macri
  • Elisabeth Rushing
  • Ling Yi
  • Patricia Sullivan
  • Joseph Prohaska
  • Patricia M Zerfas
  • Paul Johnson
  • Nicholas Patronas
  • Martin Lizak
  • Simina Lal
  • Thyyar Ravindranath
  • Alexander Bassuk
  • Olga Tjurmina
  • Thomas Shawker
  • Stephen Robertson
  • Benjamin Chang
  • Michael Riordan
  • Ludmila Matyakhina
  • Peter J Steinbach
  • Naomi L C Luban
  • Sara Stern-Nezer
  • Muriel Kaiser-Kupfer
  • Rafael C Caruso

Detail Information

Publications25

  1. pmc Safety of intracerebroventricular copper histidine in adult rats
    Kristen E Lem
    Unit on Pediatric Genetics, Laboratory of Clinical Genomics, National Institute of Child Health and Human Development, Bethesda, MD, USA
    Mol Genet Metab 91:30-6. 2007
    ..Future trials of direct CNS copper administration in mouse models of Menkes disease will be informative...
  2. pmc Internal jugular phlebectasia in Menkes disease
    David J Price
    New York Medical College, Valhalla, NY, USA
    Int J Pediatr Otorhinolaryngol 71:1145-8. 2007
    ....
  3. pmc Neonatal diagnosis and treatment of Menkes disease
    Stephen G Kaler
    Unit on Pediatric Genetics, Program in Molecular Medicine, National Institute of Child Health and Human Development, National Institutes of Health, Bldg 10, Rm 5 2571, 10 Center Dr, MSC 1832, Bethesda, MD 20892 1832
    N Engl J Med 358:605-14. 2008
    ....
  4. pmc Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome
    Anthony Donsante
    Unit on Pediatric Genetics, Laboratory of Clinical Genomics, National Institute of Child Health and Human Development, Bethesda, MD20892 1832, USA
    J Med Genet 44:492-7. 2007
    ..We report two unrelated families featuring affected members with unusually disparate clinical and biochemical phenotypes and explore the underlying molecular mechanisms...
  5. pmc ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model
    Anthony Donsante
    Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1853, USA
    Mol Ther 19:2114-23. 2011
    ..Our findings provide the first definitive evidence that gene therapy may have clinical utility in the treatment of Menkes disease...
  6. pmc Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R
    Jingrong Tang
    Unit on Pediatric Genetics, Program in Molecular Medicine, National Institute of Child Health and Human Development, Bethesda, MD 20892 1832, USA
    Mol Genet Metab 95:174-81. 2008
    ....
  7. pmc In utero copper treatment for Menkes disease associated with a severe ATP7A mutation
    Marie Reine Haddad
    Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1853, USA
    Mol Genet Metab 107:222-8. 2012
    ....
  8. pmc Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain
    Anthony Donsante
    Unit on Human Copper Metabolism, Molecular Medicine Program, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1853, USA
    Am J Med Genet A 152:2529-34. 2010
    ....
  9. pmc Molecular correlates of epilepsy in early diagnosed and treated Menkes disease
    Stephen G Kaler
    Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1853, USA
    J Inherit Metab Dis 33:583-9. 2010
    ..Subjects with ATP7A mutations that retain some function seem particularly well protected by early intervention against the possibility of epilepsy...
  10. ncbi request reprint Functional copper transport explains neurologic sparing in occipital horn syndrome
    Jingrong Tang
    Unit on Pediatric Genetics, Laboratory of Clinical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1832, USA
    Genet Med 8:711-8. 2006
    ..Our objective was to characterize a novel occipital horn syndrome mutation (N1304S) not associated with aberrant splicing and to determine whether functional copper transport was associated with this allele...
  11. pmc Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease
    Stephen G Kaler
    Unit on Pediatric Genetics, Program in Molecular Medicine, National Institute of Child Health and Human Development, Bethesda, MD, USA
    Ann Neurol 65:108-13. 2009
    ....
  12. pmc Relative efficiencies of plasma catechol levels and ratios for neonatal diagnosis of menkes disease
    David S Goldstein
    Clinical Neurocardiology Section, Clinical Neurosciences Program, Division of Intramural Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1620, USA
    Neurochem Res 34:1464-8. 2009
    ..The relative diagnostic efficiencies of levels of catechol analytes, alone or in combination, in neonates at genetic risk of Menkes disease have been unknown...
  13. ncbi request reprint Downregulation of myelination, energy, and translational genes in Menkes disease brain
    Po Ching Liu
    Unit on Pediatric Genetics, Laboratory of Clinical Genomics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1834, USA
    Mol Genet Metab 85:291-300. 2005
    ..Thirty known genes were altered in both cortex and cerebellum. Downregulation of genes involved in myelination, energy metabolism, and translation was the major finding. The cerebellum was more sensitive to copper deficiency...
  14. pmc Genomic organization of ATOX1, a human copper chaperone
    Po Ching Liu
    Unit on Pediatric Genetics, Laboratory of Clinical Genomics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
    BMC Genet 4:4. 2003
    ..The cDNA sequence for ATOX1 is known, and the genomic organization has not been reported...
  15. doi request reprint Diseases of poverty with high mortality in infants and children: malaria, measles, lower respiratory infections, and diarrheal illnesses
    Stephen G Kaler
    Unit on Pediatric Genetics, Program in Molecular Medicine, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, National Institute of Health, Bethesda, MD 20892 1832, USA
    Ann N Y Acad Sci 1136:28-31. 2008
    ..Infants and children are especially vulnerable to poor outcomes from infections when undernutrition and other circumstances of poverty are present...
  16. doi request reprint Inborn errors of copper metabolism
    Stephen G Kaler
    Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, USA Electronic address
    Handb Clin Neurol 113:1745-54. 2013
    ....
  17. doi request reprint ATP7A-related copper transport diseases-emerging concepts and future trends
    Stephen G Kaler
    National Institute of Child Health and Human Development, NIH, Building 10 Room 10N313, 10 Center Drive MSC 1853, Bethesda, MD 20892 1853, USA
    Nat Rev Neurol 7:15-29. 2011
    ..Collectively, these insights refine our knowledge of the neurology of ATP7A-related copper transport diseases and pave the way for further progress in understanding ATP7A function...
  18. ncbi request reprint Brachial artery aneurysms in Menkes disease
    Sarah C Godwin
    Unit on Pediatric Genetics, Laboratory of Clinical Genetics, Department of Diagnostic Imaging, National Institute of Child Health and Human Development, Clinical Center, National Institutes of Health, 10 Center Drive MSC 1832, Bethesda, MD 20892, USA
    J Pediatr 149:412-5. 2006
    ..We describe bilateral brachial artery aneurysms in a 10-month-old infant with classical Menkes disease...
  19. ncbi request reprint Mutation in the leucine-rich repeat C-flanking region of platelet glycoprotein Ib beta impairs assembly of von Willebrand factor receptor
    Jingrong Tang
    Unit on Pediatric Genetics, Laboratory of Clinical Genomics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Thromb Haemost 92:75-88. 2004
    ....
  20. pmc Cervical spine anomalies in Menkes disease: a radiologic finding potentially confused with child abuse
    Suvimol C Hill
    Radiology and Imaging Sciences, NIH Clinical Center, National Institutes of Health, Bethesda, MD, USA
    Pediatr Radiol 42:1301-4. 2012
    ..However, cervical spine defects simulating cervical spine fracture, a known result of nonaccidental pediatric trauma, have not been reported previously in this illness...
  21. ncbi request reprint Role of copper in human neurological disorders
    Vishal Desai
    Unit on Pediatric Genetics, Program in Molecular Medicine, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
    Am J Clin Nutr 88:855S-8S. 2008
    ..The biochemical phenotypes of human disorders that involve copper homeostasis suggest possible biomarkers of copper status that may be applicable to general populations...
  22. ncbi request reprint Rapid and robust screening of the Menkes disease/occipital horn syndrome gene
    Po Ching Liu
    Unit on Pediatric Genetics, Laboratory of Clinical Genomics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Genet Test 6:255-60. 2002
    ..Currently, only a single European center provides commercial testing for unknown mutations in Menkes/OHS patients, even though these disorders occur worldwide...
  23. doi request reprint Reducing the impact of poverty on health and human development: scientific approaches. Preface
    Stephen G Kaler
    National Institute of Child Health and Human Development, National Institute of Health, Bethesda, Maryland, USA
    Ann N Y Acad Sci 1136:xi-xii. 2008
  24. ncbi request reprint Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes disease
    Dorothy K Grange
    Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA
    Am J Med Genet A 139:151-5. 2005
    ....
  25. ncbi request reprint Menkes' syndrome: ophthalmic findings
    Alice T Gasch
    Washington National Eye Center, Washington Hospital Center, DC, USA
    Ophthalmology 109:1477-83. 2002
    ..To report the prevalence and clinical significance of ocular findings in 20 patients with Menkes' syndrome recruited for a clinical trial at the National Institute of Child Health and Human Development (NICHHD)...