Robert Kleta

Summary

Publications

  1. ncbi request reprint Pharmacological treatment of nephropathic cystinosis with cysteamine
    Robert Kleta
    NHGRI, Building 10, Room 10C 107, MSC 1851, 10 Center Drive, Bethesda, MD 20892, USA
    Expert Opin Pharmacother 5:2255-62. 2004
  2. pmc Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease
    Meral Gunay-Aygun
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Clin J Am Soc Nephrol 5:972-84. 2010
  3. pmc NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules
    Meral Gunay-Aygun
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 43:732-4. 2011
  4. ncbi request reprint FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis
    Claude Bendavid
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851 Building 10, Room 10C 103, Bethesda, MD 20892 1851, USA
    Hum Genet 115:510-4. 2004
  5. ncbi request reprint Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy
    William A Gahl
    National Human Genome Research Institute and Intramural Office of Rare Diseases, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
    Ann Intern Med 147:242-50. 2007
  6. pmc Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria
    Thierry Vilboux
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health NIH, Bethesda, Maryland 20892, USA
    Hum Mutat 30:1611-9. 2009
  7. ncbi request reprint Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy
    Barbara C Sonies
    Oral Motor Function Section, Physical Disabilities Branch, Rehabilitation Medicine Department, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA
    Medicine (Baltimore) 84:137-46. 2005
  8. pmc Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p
    Meral Gunay-Aygun
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Blood 116:4990-5001. 2010
  9. pmc OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria
    Marjan Huizing
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Genet Metab 100:149-54. 2010
  10. doi request reprint Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility
    Sabina Domené
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 3717, USA
    Am J Med Genet B Neuropsychiatr Genet 156:11-8. 2011

Collaborators

Detail Information

Publications30

  1. ncbi request reprint Pharmacological treatment of nephropathic cystinosis with cysteamine
    Robert Kleta
    NHGRI, Building 10, Room 10C 107, MSC 1851, 10 Center Drive, Bethesda, MD 20892, USA
    Expert Opin Pharmacother 5:2255-62. 2004
    ..Because treatment with oral cysteamine can prevent, or significantly delay, the complications of cystinosis, early and accurate diagnosis, as well as proper treatment, is critical...
  2. pmc Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease
    Meral Gunay-Aygun
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Clin J Am Soc Nephrol 5:972-84. 2010
    ..Renal function and imaging findings have not been comprehensively and prospectively characterized in a broad age range of patients with molecularly confirmed autosomal recessive polycystic kidney disease (ARPKD)...
  3. pmc NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules
    Meral Gunay-Aygun
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 43:732-4. 2011
    ..Proteomic analysis of sucrose-gradient subcellular fractions of platelets indicated that NBEAL2 localizes to the dense tubular system (endoplasmic reticulum) in platelets...
  4. ncbi request reprint FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis
    Claude Bendavid
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851 Building 10, Room 10C 103, Bethesda, MD 20892 1851, USA
    Hum Genet 115:510-4. 2004
    ..This appears to be the first FISH-based diagnostic method described for any lysosomal storage disorder. It can assist in the antenatal and perinatal diagnosis of cystinosis and promote earlier salutary therapy with cysteamine...
  5. ncbi request reprint Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy
    William A Gahl
    National Human Genome Research Institute and Intramural Office of Rare Diseases, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
    Ann Intern Med 147:242-50. 2007
    ..The full burden of nephropathic cystinosis in adulthood and the effects of long-term oral cysteamine therapy on its nonrenal complications have not been elucidated...
  6. pmc Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria
    Thierry Vilboux
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health NIH, Bethesda, Maryland 20892, USA
    Hum Mutat 30:1611-9. 2009
    ..This study provides valuable resources for molecular analysis of alkaptonuria and expands our knowledge of the molecular basis of this disease...
  7. ncbi request reprint Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy
    Barbara C Sonies
    Oral Motor Function Section, Physical Disabilities Branch, Rehabilitation Medicine Department, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA
    Medicine (Baltimore) 84:137-46. 2005
    ..Cystine-depleting therapy with cysteamine should be considered the treatment of choice for both pre- and posttransplant cystinosis patients...
  8. pmc Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p
    Meral Gunay-Aygun
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Blood 116:4990-5001. 2010
    ..This study is registered at www.clinicaltrials.gov as NCT00069680 and NCT00369421...
  9. pmc OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria
    Marjan Huizing
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Genet Metab 100:149-54. 2010
    ..These findings thus place the cellular metabolic defect of 3-MGCA type III in the mitochondrion rather than the peroxisome and implicate loss of OPA3A rather than gain of OPA3B in disease etiology...
  10. doi request reprint Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility
    Sabina Domené
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 3717, USA
    Am J Med Genet B Neuropsychiatr Genet 156:11-8. 2011
    ....
  11. ncbi request reprint Long-term follow-up of well-treated nephropathic cystinosis patients
    Robert Kleta
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
    J Pediatr 145:555-60. 2004
    ..Now 15 and 8 years old, they have glomerular filtration rates of 78 and 105 mL/min/1.73m 2 , respectively. These cases illustrate the critical importance of early diagnosis and treatment...
  12. ncbi request reprint Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5
    Marjan Huizing
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA
    Traffic 5:711-22. 2004
    ..This specific intracellular vesicle distribution in fibroblasts, in combination with the clinical features, will improve the characterization of the HPS-5 subtype...
  13. pmc Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference
    Meral Gunay-Aygun
    National Human Genome Research Institute, the Molecular Imaging Program, National Cancer Institute, The National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 1851, USA
    J Pediatr 149:159-64. 2006
  14. ncbi request reprint Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation
    Masako Ueda
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892 1851, USA
    Clin J Am Soc Nephrol 1:555-62. 2006
    ..The accumulation of intracellular cystine itself maybe a risk factor for vascular calcifications, and older patients with cystinosis should be screened for this complication...
  15. pmc A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome
    Wendy Westbroek
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
    Mol Genet Metab 94:248-54. 2008
    ..Co-immunoprecipitation studies showed that Rab27A(G43S) fails to interact with its effector Melanophilin, indicating that the switch I region functions in the recruitment of Rab effector proteins...
  16. pmc NT5E mutations and arterial calcifications
    Cynthia St Hilaire
    National Heart, Lung, and Blood Institute, NIH, Bethesda, MD 20892, USA
    N Engl J Med 364:432-42. 2011
    ..Arterial calcifications are associated with increased cardiovascular risk, but the genetic basis of this association is unclear...
  17. ncbi request reprint Nodular regenerative hyperplasia and severe portal hypertension in cystinosis
    Kevin O'Brien
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
    Clin Gastroenterol Hepatol 4:387-94. 2006
    ..We report the case histories of 2 young men with poorly treated nephropathic cystinosis who developed noncirrhotic portal hypertension with evidence of nodular regenerative hyperplasia (NRH)...
  18. ncbi request reprint Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome
    Wafika Zarzour
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Genet Metab 85:125-32. 2005
    ..These two newly described mutations are expected to give rise to a severe phenotype and, indeed, the patient had absolutely no cytotoxicity by natural killer cells or cytotoxic lymphocytes prior to his allogeneic SCT...
  19. ncbi request reprint Keratopathy of multiple myeloma masquerading as corneal crystals of ocular cystinosis
    Robert Kleta
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 1851, USA
    Mayo Clin Proc 79:410-2. 2004
    ..Bone marrow biopsy confirmed the diagnosis of multiple myeloma. This case illustrates that multiple myeloma can mimic corneal findings of cystinosis...
  20. pmc Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report
    Brian P Brooks
    National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
    BMC Ophthalmol 4:7. 2004
    ..Triple-A syndrome (Allgrove syndrome) is an autosomal recessive disorder characterized by adrenal insufficiency, alacrima, achalasia, and - occasionally - autonomic instability. Mutations have been found in the AAAS gene on 12q13...
  21. pmc A candidate gene for autoimmune myasthenia gravis
    Guida Landoure
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
    Neurology 79:342-7. 2012
    ..We sought to identify a causative mutation in a previously reported kindred with parental consanguinity and 5 of 10 siblings with adult-onset autoimmune myasthenia gravis...
  22. ncbi request reprint Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder
    Robert Kleta
    Medical Genetics Branch, 10 Center Drive, MSC 1851, Building 10, Room 10C 107, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 36:999-1002. 2004
    ..The protein product of SLC6A19, the Hartnup transporter, is expressed primarily in intestine and renal proximal tubule and functions as a neutral amino acid transporter...
  23. ncbi request reprint Renal glucosuria due to SGLT2 mutations
    Robert Kleta
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 10, Room 10C 107, MSC 1851, 10 Center Drive, Bethesda, MD 20892 1851, USA
    Mol Genet Metab 82:56-8. 2004
    ..Here we present clinical and molecular data regarding a 19-year-old woman with isolated glucosuria. She was compound heterozygous for two SGLT2 mutations, i.e., a new missense mutation, T200K, and a known missense mutation, N654S...
  24. ncbi request reprint First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future
    Robert Kleta
    Office of Rare Diseases, National Institutes of Health, Bethesda, Maryland, USA
    Pediatr Nephrol 20:452-4. 2005
  25. ncbi request reprint Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children
    Robert Kleta
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, 10 Center Drive, Building 10 Room 10C 103, Bethesda, MD 20892 1851, USA
    Am J Med Genet A 120:28-33. 2003
    ..These observations emphasize the importance of considering free sialic acid disorders in infants with developmental delays and growth retardation, regardless of whether they are of Finnish ancestry...
  26. ncbi request reprint Cystinosis: antibodies and healthy bodies
    Robert Kleta
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Am Soc Nephrol 13:2189-91. 2002
  27. pmc Description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneity
    Jason A Clark
    Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA
    BMC Dermatol 9:8. 2009
    ..We wished to determine the inheritance pattern and phenotype of keloids among multigenerational families, as a prelude to a positional mapping strategy to identify candidate genes...
  28. ncbi request reprint A deeper look into cysteamine absorption for the treatment of cystinosis
    Robert Kleta
    J Pediatr 148:718-9. 2006
  29. ncbi request reprint Fanconi or not Fanconi? Lowe syndrome revisited
    Robert Kleta
    Clin J Am Soc Nephrol 3:1244-5. 2008
  30. ncbi request reprint Inhibition of Na(+)-dependent transporters in cystine-loaded human renal cells: electrophysiological studies on the Fanconi syndrome of cystinosis
    Ibrahim Cetinkaya
    Department of Pediatrics, University Children s Hospital Muenster, Muenster, Germany
    J Am Soc Nephrol 13:2085-93. 2002
    ..This might suggest that phosphate depletion and dissipation of the Na(+)-gradient are involved in the development of the Fanconi syndrome of cystinosis...