Research Topics
| Stephen G KalerSummaryAffiliation: National Institutes of Health Country: USA Publications
| Collaborators
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Detail Information
Publications
Safety of intracerebroventricular copper histidine in adult ratsKristen 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...- Internal jugular phlebectasia in Menkes diseaseDavid J Price
New York Medical College, Valhalla, NY, USA
Int J Pediatr Otorhinolaryngol 71:1145-8. 2007.... - Neonatal diagnosis and treatment of Menkes diseaseStephen 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.... - Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndromeAnthony 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... - ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse modelAnthony 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... - Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727RJingrong 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.... - In utero copper treatment for Menkes disease associated with a severe ATP7A mutationMarie 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.... - Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brainAnthony 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.... - Molecular correlates of epilepsy in early diagnosed and treated Menkes diseaseStephen 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... 
Functional copper transport explains neurologic sparing in occipital horn syndromeJingrong 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...- Relative efficiencies of plasma catechol levels and ratios for neonatal diagnosis of menkes diseaseDavid 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... - Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes diseaseStephen 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.... - Downregulation of myelination, energy, and translational genes in Menkes disease brainPo-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... - Genomic organization of ATOX1, a human copper chaperonePo 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... 
Diseases of poverty with high mortality in infants and children: malaria, measles, lower respiratory infections, and diarrheal illnessesStephen 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...- ATP7A-related copper transport diseases-emerging concepts and future trendsStephen 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... - Mutation in the leucine-rich repeat C-flanking region of platelet glycoprotein Ib beta impairs assembly of von Willebrand factor receptorJingrong 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.... - Brachial artery aneurysms in Menkes diseaseSarah 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... - Role of copper in human neurological disordersVishal 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... - Rapid and robust screening of the Menkes disease/occipital horn syndrome genePo-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... - Reducing the impact of poverty on health and human development: scientific approaches. PrefaceStephen 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 - Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes diseaseDorothy K Grange
Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA
Am J Med Genet A 139:151-5. 2005.... - Menkes' syndrome: ophthalmic findingsAlice T Gasch
Washington National Eye Center, Washington Hospital Center, DC, USA
Ophthalmology 109:1477-83. 2002..Early ocular examination is thus indicated for patients with Menkes' syndrome, particularly those with mild variants of the disease, whose neurologic status is better and lifespan is longer...