Research Topics
Genomes and Genes | Robert KletaSummaryAffiliation: National Institutes of Health Country: USA Publications
| Collaborators
|
Detail Information
Publications
Inhibition of Na(+)-dependent transporters in cystine-loaded human renal cells: electrophysiological studies on the Fanconi syndrome of cystinosisIbrahim 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...- A deeper look into cysteamine absorption for the treatment of cystinosisRobert Kleta
J Pediatr 148:718-9. 2006 - Long-term follow-up of well-treated nephropathic cystinosis patientsRobert 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... - Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severityRobert Kleta
Department of Pediatrics, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA
Mol Genet Metab 82:137-43. 2004..The differential diagnosis of postnatal developmental delay should include free sialic acid storage disorders such as ISSD and Salla disease... - Bartter syndromes and other salt-losing tubulopathiesRobert Kleta
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
Nephron Physiol 104:p73-80. 2006..We summarize recent findings in the field in the context of human diseases and a pathophysiologic basis for their treatment... - Renal glucosuria due to SGLT2 mutationsRobert 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... - Keratopathy of multiple myeloma masquerading as corneal crystals of ocular cystinosisRobert 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... - Biochemical and molecular analyses of infantile free sialic acid storage disease in North American childrenRobert 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... 
Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney diseaseMeral 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)...- NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granulesMeral 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... - Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapyWilliam 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... - FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosisClaude 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... - Novel form of intermediate salla disease: clinical and neuroimaging featuresRichard P Morse
Department of Pediatrics, Division of Pediatric Neurology, Dartmouth Hitchcock Medical Center, Lebanon, NH 03756, USA
J Child Neurol 20:814-6. 2005..White-matter abnormalities appear to be characteristic of the entire phenotypic spectrum... - Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibsRick A Martin
Division of Medical Genetics, Department of Pediatrics, St Louis Children s Hospital, Washington University, St Louis, MO 63110, USA
Am J Med Genet A 120:23-7. 2003..Salla disease is rare outside of individuals of Finnish ancestry. In this report we describe the disorder in non-Finnish monozygous twin siblings, the first reported American cases of Salla disease... - Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3pMeral 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... - OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondriaMarjan 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... - Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuriaThierry 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... - Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapyBarbara 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... - Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conferenceMeral 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 
Screening of human LPHN3 for variants with a potential impact on ADHD susceptibilitySabina 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....- Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5Marjan 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... - Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantationMasako 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... - Pharmacological treatment of nephropathic cystinosis with cysteamineRobert 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... 
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case reportBrian 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...- A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndromeWendy 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... - Nodular regenerative hyperplasia and severe portal hypertension in cystinosisNadeem Hussain
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..NRH may represent a rare, late complication of cystinosis, although the mechanism remains undefined... - NT5E mutations and arterial calcificationsCynthia 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... - Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndromeWafika 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... - A candidate gene for autoimmune myasthenia gravisGuida 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... - Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorderRobert 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... - First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and futureRobert Kleta
Office of Rare Diseases, National Institutes of Health, Bethesda, Maryland, USA
Pediatr Nephrol 20:452-4. 2005 - Cystinosis: antibodies and healthy bodiesRobert 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 - Large-scale proteomics and phosphoproteomics of urinary exosomesPatricia A Gonzales
Laboratory of Kidney and Electrolyte Metabolism, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
J Am Soc Nephrol 20:363-79. 2009..The proteomic data are publicly accessible at http://dir.nhlbi.nih.gov/papers/lkem/exosome/... - Description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneityJason 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... - 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findingsRobert Kleta
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, 10 Center Drive, MSC 1830, Building 10, Room 9S 241, Bethesda, MD 20892 1830, USA
Mol Genet Metab 76:201-6. 2002..We conclude that type III MGA occurs in patients of non-Iraqi-Jewish ancestry, and should be considered in patients with type IV MGA that have optic atrophy and ataxia... - Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcriptsWendy Westbroek
Department of Dermatology, Ghent University Hospital, De Pintelaan 185, Gent, Belgium
Pigment Cell Res 17:498-505. 2004..Our data suggest that up-regulated Rab27b in melanocytes of the Griscelli patient can partially take over the function of Rab27a, which could explain the fact that this patient had an evenly pigmented skin and was able to tan... - Fanconi or not Fanconi? Lowe syndrome revisitedRobert Kleta
Clin J Am Soc Nephrol 3:1244-5. 2008 - Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndromeDanny Lotan
Department of Pediatrics, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel
Pediatr Nephrol 21:423-6. 2006..The likelihood of both occurring randomly in a single individual is very low. We therefore speculate that there might be a possibility of an etiologic link between these entities... - Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan JewsBruria Ben-Zeev
Sackler School of Medicine, Tel Aviv University, Israel
Hum Genet 111:214-8. 2002..G59E mutation, revealed a carrier rate of 1/40 compared with an expected carrier rate of 1/81. Several explanations could account for this difference the most likely one is an admixture of the Libyan Jewish population... - Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1Laura Crisponi
Istituto di Neurogenetica e Neurofarmacologia Consiglio Nazionale delle Ricerche, Cittadella Universitaria di Monserrato, Monserrato, Italy
Am J Hum Genet 80:971-81. 2007..We suggest that the syndromes can comprise a family of "CNTF-receptor-related disorders," of which Crisponi syndrome would be the newest member and allelic to CISS1... - Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotypeWendy Westbroek
J Invest Dermatol 127:2674-7. 2007