Genomes and Genes
Affiliation: National Institutes of Health
- Chronic myopathy due to immunoglobulin light chain amyloidosisIrini Manoli
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA
Mol Genet Metab 108:249-54. 2013..This case highlights the importance of early diagnosis and therapy for this treatable cause of a chronic myopathy with muscle hypertrophy...
- Intravenous immune globulin in hereditary inclusion body myopathy: a pilot studySusan Sparks
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
BMC Neurol 7:3. 2007..Reduced sialylation of muscle glycoproteins, such as alpha-dystroglycan and neural cell adhesion molecule (NCAM), has been reported in HIBM...
- Monoamine oxidase-A is a major target gene for glucocorticoids in human skeletal muscle cellsIrini Manoli
Endocrine Section, Laboratory of Clinical Investigation, NCCAM, NIH, Bethesda, Maryland 20892, USA
FASEB J 19:1359-61. 2005..We suggest that MAO-A-mediated oxidative stress can lead to cell damage, representing a novel pathogenetic mechanism for glucocorticoid-induced myopathy and a potential target for therapeutic intervention...
- Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1Irini Manoli
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA
Am J Med Genet A 152:1474-83. 2010..Unmasking of a separate autosomal recessive cause of developmental delay, or an additive effect of the paternal heterodisomy, could underlie the severity of the phenotype in this patient...
- Mitochondria as key components of the stress responseIrini Manoli
Human Biochemical Genetics Section, MGB, NHGRI, NIH, Bethesda, MD 20892, USA
Trends Endocrinol Metab 18:190-8. 2007..Understanding the often reciprocal interplay between stress mediators and mitochondrial function is likely to help identify potential therapeutic targets for many stress and mitochondria-related pathologies...
- Glucocorticoid receptor (GR) beta has intrinsic, GRalpha-independent transcriptional activityTomoshige Kino
Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892 1109, USA
Biochem Biophys Res Commun 381:671-5. 2009..Our results indicate that GRbeta has intrinsic, GRalpha-independent, gene-specific transcriptional activity, in addition to its previously reported dominant negative effect on GRalpha-induced transactivation of GRE-driven promoters...
- Brx mediates the response of lymphocytes to osmotic stress through the activation of NFAT5Tomoshige Kino
Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Sci Signal 2:ra5. 2009..Our results indicate that Brx integrates the responses of immune cells to osmotic stress and inflammation by elevating intracellular osmolarity and stimulating the production of cytokines...
- Rho family Guanine nucleotide exchange factor Brx couples extracellular signals to the glucocorticoid signaling systemTomoshige Kino
Pediatric Endocrinology Section, Reproductive Biology and Medicine Branch, NICHD, National Institutes of Health, Bethesda Maryland 20892, USA
J Biol Chem 281:9118-26. 2006..Nuclear Brx might act as a local GRE-GR-transcriptosome activator by mediating the effect of small G-proteins on glucocorticoid-regulated genes...
- Modulatory effects of L-carnitine on glucocorticoid receptor activityIrini Manoli
Endocrine Section, Laboratory of Clinical Investigation, National Center for Complementary and Alternative Medicine, National Institutes of Health, Bethesda, MD 20892, USA
Ann N Y Acad Sci 1033:147-57. 2004..The clinical and therapeutic implications of these findings, as well as a better understanding of their mechanisms, warrant further research...
- Allele-specific silencing of the dominant disease allele in sialuria by RNA interferenceRiko D Klootwijk
Medical Genetics Branch, NHGRI, NIH, 10 Center Dr, MSC 1851, Bethesda, MD 20892, USA
FASEB J 22:3846-52. 2008..These findings indicate that allele-specific silencing of a mutated allele is a viable therapeutic strategy for autosomal dominant diseases, including sialuria...
- The Gne M712T mouse as a model for human glomerulopathySravan Kakani
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
Am J Pathol 180:1431-40. 2012..Moreover, the partial restoration of glomerular architecture in ManNAc-treated mice highlights ManNAc as a potential treatment for humans affected with disorders of glomerular hyposialylation...
- Hermansky-Pudlak syndrome in two African-American brothersMelissa A Merideth
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
Am J Med Genet A 149:987-92. 2009..A history of easy bruising or evidence of a bleeding disorder, combined with some degree of hypopigmentation, should prompt investigation into the diagnosis of HPS...
- Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemiaIrini Manoli
Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health NIH, Bethesda, MD 20892
Proc Natl Acad Sci U S A 110:13552-7. 2013....
- Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaJennifer L Sloan
Genetics and Molecular Biology Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA
Nat Genet 43:883-6. 2011....
- Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamineBelinda Galeano
Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 208921851, USA
J Clin Invest 117:1585-94. 2007..The results also support evaluation of ManNAc as a treatment not only for HIBM but also for renal disorders involving proteinuria and hematuria due to podocytopathy and/or segmental splitting of the glomerular basement membrane...
- Third-generation human mitochondria-focused cDNA microarray and its bioinformatic tools for analysis of gene expressionXueyan Bai
The George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA
Biotechniques 42:365-75. 2007..Thus, hMitChip3 and its bioinformatics software provide an integrated tool for profiling mitochondria-focused gene expression...
- Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathyPaul J M Savelkoul
Mol Genet Metab 88:389-90. 2006