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...
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-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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
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
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- 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...
- 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...
- 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
- 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...
- 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...
- 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...
- Nodular regenerative hyperplasia and severe portal hypertension in cystinosis
Nadeem 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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
- 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...
- 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
- 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...
- A deeper look into cysteamine absorption for the treatment of cystinosis
Robert Kleta
J Pediatr 148:718-9. 2006
- Fanconi or not Fanconi? Lowe syndrome revisited
Robert Kleta
Clin J Am Soc Nephrol 3:1244-5. 2008
- 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...
