W A Gahl

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study
    Susan Sparks
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    BMC Neurol 7:3. 2007
  2. ncbi PTPRF is disrupted in a patient with syndromic amastia
    Surasawadee Ausavarat
    Interdepartment of Biomedical Sciences, Faculty of Graduate School, Chulalongkorn University, Bangkok 10330, Thailand
    BMC Med Genet 12:46. 2011
  3. ncbi Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin
    Amanda Helip-Wooley
    Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA
    BMC Cell Biol 6:33. 2005
  4. ncbi 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
  5. ncbi Chemical individuality: concept and outlook
    W A Gahl
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851, Besthesda, Maryland, USA
    J Inherit Metab Dis 31:630-40. 2008
  6. ncbi Early oral cysteamine therapy for nephropathic cystinosis
    William A Gahl
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, MSC 1851 Building 10, Room 10C 103, 10 Center Drive, Bethesda, Maryland 20892 1851, USA
    Eur J Pediatr 162:S38-41. 2003
  7. ncbi Cystinosis
    William A Gahl
    Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892-1830, USA
    N Engl J Med 347:111-21. 2002
  8. ncbi Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome
    William A Gahl
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
    Mol Genet Metab 76:234-42. 2002
  9. ncbi Engulfed
    William A Gahl
    SHBG, MGB, NHGRI, NIH, 10 Center Drive, MSC 1851, Bethesda, MD 20892 1851, USA
    Mol Genet Metab 87:190-3. 2006
  10. ncbi CTNS mutations in African American patients with cystinosis
    R Kleta
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development NIH, 10 Center Drive, Building 10, Bethesda, MD 20892, USA
    Mol Genet Metab 74:332-7. 2001

Detail Information

Publications126 found, 100 shown here

  1. ncbi Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study
    Susan 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...
  2. ncbi PTPRF is disrupted in a patient with syndromic amastia
    Surasawadee Ausavarat
    Interdepartment of Biomedical Sciences, Faculty of Graduate School, Chulalongkorn University, Bangkok 10330, Thailand
    BMC Med Genet 12:46. 2011
    ..1;q13.13). In addition to characterization of her clinical and cytogenetic features, we successfully identified the interrupted gene and studied its consequences...
  3. ncbi Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin
    Amanda Helip-Wooley
    Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA
    BMC Cell Biol 6:33. 2005
    ..HPS type-3 (HPS-3) results from mutations in the HPS3 gene, which encodes a 1004 amino acid protein of unknown function that contains a predicted clathrin-binding motif (LLDFE) at residues 172-176...
  4. ncbi 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...
  5. ncbi Chemical individuality: concept and outlook
    W A Gahl
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851, Besthesda, Maryland, USA
    J Inherit Metab Dis 31:630-40. 2008
    ..Just as Garrod predicted that the future of biochemical genetics would be intertwined with the concept of chemical variability, we might forecast that variation will influence emotions, dreams, and the human thinking process itself...
  6. ncbi Early oral cysteamine therapy for nephropathic cystinosis
    William A Gahl
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, MSC 1851 Building 10, Room 10C 103, 10 Center Drive, Bethesda, Maryland 20892 1851, USA
    Eur J Pediatr 162:S38-41. 2003
    ..CONCLUSIONS: Early diagnosis and treatment of nephropathic cystinosis can change the course of this disease...
  7. ncbi Cystinosis
    William A Gahl
    Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892-1830, USA
    N Engl J Med 347:111-21. 2002
  8. ncbi Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome
    William A Gahl
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
    Mol Genet Metab 76:234-42. 2002
    ..Clinical and laboratory side effects were similar in the two groups. Pirfenidone appears to slow the progression of pulmonary fibrosis in HPS patients who have significant residual lung function...
  9. ncbi Engulfed
    William A Gahl
    SHBG, MGB, NHGRI, NIH, 10 Center Drive, MSC 1851, Bethesda, MD 20892 1851, USA
    Mol Genet Metab 87:190-3. 2006
    ..The 1995 SIMD Presidential Address is put in perspective...
  10. ncbi CTNS mutations in African American patients with cystinosis
    R Kleta
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development NIH, 10 Center Drive, Building 10, Bethesda, MD 20892, USA
    Mol Genet Metab 74:332-7. 2001
    ..We conclude that the diagnosis of cystinosis should be entertained in African Americans with symptoms of the disease, and that mutation analysis for the 57-kb deletion should be considered in this group of patients...
  11. ncbi Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency
    M Huizing
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 69:1022-32. 2001
    ..These findings expand the molecular diagnosis of HPS, provide a screening method for a mutation common among Jews, and suggest that other patients with mild hypopigmentation and decreased vision should be examined for HPS...
  12. ncbi Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations
    Y Anikster
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Pediatr Res 47:17-23. 2000
    ..Each of these mechanisms could result in minimally reduced lysosomal cystine transport in the kidneys...
  13. ncbi The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region
    C Phornphutkul
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 69:712-21. 2001
    ..These findings suggest that the CTNS promoter region should be examined in patients with cystinosis who have fewer than two coding-sequence mutations...
  14. ncbi Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome
    S Hazelwood
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1830, USA
    Am J Hum Genet 61:1088-94. 1997
    ..In addition, HPS most likely displays locus heterogeneity, consistent with the existence of several mouse strains manifesting both pigment dilution and a platelet storage-pool deficiency...
  15. ncbi Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome
    W A Gahl
    Section of Human Biochemical Genetics, National Institute of Child Health and Human Development, Bethesda, Maryland 20892
    J Clin Invest 81:549-60. 1988
    ..However, its efficacy in restoring muscle carnitine to normal, and the optimal dosage regimen, have yet to be determined...
  16. ncbi AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes
    M Huizing
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Biol Cell 12:2075-85. 2001
    ..Finally, our studies demonstrate that tyrosinase and TRP-1 use different mechanisms to reach their premelanosomal destination...
  17. ncbi Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico
    Y Anikster
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nat Genet 28:376-80. 2001
    ..We also present an allele-specific assay for diagnosing individuals heterozygous or homozygous for this mutation...
  18. ncbi Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews
    Y Anikster
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
    Am J Hum Genet 69:1218-24. 2001
    ..Milder mutations in OPA3 should be sought in patients with optic atrophy with later onset, even in the absence of additional neurological abnormalities...
  19. ncbi The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion
    J W Touchman
    NIH Intramural Sequencing Center, National Institutes of Health, Gaithersburg, Maryland 20877, USA
    Genome Res 10:165-73. 2000
    ..e., those homozygous for the common deletion). [The sequence data described in this paper have been submitted to the GenBank data library under accession nos. AF168787 and AF163573.]..
  20. ncbi CTNS mutations in patients with cystinosis
    Y Anikster
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Maryland 20892 1830, USA
    Hum Mutat 14:454-8. 1999
    ..In general, only certain splicing or missense mutations are associated with milder cystinosis phenotypes. Hum Mutat 14:454-458, 1999. Published 1999 Wiley-Liss, Inc...
  21. ncbi Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops
    W A Gahl
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Maryland 20892, USA
    Mol Genet Metab 71:100-20. 2000
    ..Administration of 0.55% cysteamine eyedrops, given 6 to 12 times per day, dissolved corneal cystine crystals in 10 representative patients with nephropathic cystinosis aged 1 to 32 years within 8 to 41 months...
  22. ncbi Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes
    M Huizing
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1830, USA
    Curr Mol Med 2:451-67. 2002
    ..Mouse and Drosophila models provide candidates for new genes causing HPS in humans. These genes will reveal the pathways by which specialized vesicles of lysosomal lineage arise within cells...
  23. ncbi Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)
    Y Anikster
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Genet Metab 66:111-6. 1999
    ..The addition of D17S829 primers (266 bp apart) to the PCR created a multiplex PCR system useful for diagnosing cystinosis patients homozygous and heterozygous for the 65-kb deletion...
  24. ncbi Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations
    V Shotelersuk
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Genet Metab 64:99-107. 1998
    ..To date, all mutations in HPS result in a truncated protein, suggesting that the C-terminal portion of the HPS protein is functionally important...
  25. ncbi 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...
  26. ncbi 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...
  27. ncbi Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33
    M Huizing
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Development, National Institutes of Health, Bethesda, MD 20892, USA
    Gene 264:241-7. 2001
    ..This initial molecular description of these four genes is an important step towards their evaluation as candidate genes that may be involved in the pathogenesis of Hermansky-Pudlak syndrome-related diseases...
  28. ncbi Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6
    M Huizing
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
    J Med Genet 46:803-10. 2009
    ..Of the eight human HPS subtypes, only subtypes 1 through 5 are well described...
  29. ncbi Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2
    Marjan Huizing
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1830, USA
    Pediatr Res 51:150-8. 2002
    ..Our findings expand the molecular, cellular, and clinical spectrum of HPS-2 and call for an increased index of suspicion for this diagnosis among patients with features of albinism, bleeding, and neutropenia...
  30. ncbi Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking
    M Huizing
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1830, USA
    Thromb Haemost 86:233-45. 2001
    ..These diseases and their variants mirror a group of mouse hypopigmentation mutants. The gene productsinvolved will reveal how the melanosome, platelet dense body, and lysosome are formed and trafficked within cells...
  31. ncbi Characterization of lysosomal monoiodotyrosine transport in rat thyroid cells. Evidence for transport by system h
    H C Andersson
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    J Biol Chem 265:10950-4. 1990
    ..It appears that a single system effects the transport of iodinated (e.g. monoiodotyrosine) and noniodinated (e.g. tyrosine) thyroglobulin catabolites into the cytosol for salvage and reutilization by FRTL-5 thyroid cells...
  32. ncbi Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR
    A E Griffin
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Clin Genet 68:23-30. 2005
    ....
  33. ncbi Hermansky-Pudlak syndrome: models for intracellular vesicle formation
    V Shotelersuk
    Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Maryland, 20892, USA
    Mol Genet Metab 65:85-96. 1998
    ..Studies of the proteins involved in intercompartmental transport for melanosomes, platelet-dense bodies, and lysosomes should lead to a better understanding of the mechanisms of organellogenesis and to more effective therapies for HPS...
  34. ncbi Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection
    M Huizing
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Genet 106:370-3. 2000
    ..g., exons 2-5) for mutation detection might lead to false positives for mutations, if the cDNA is contaminated with gDNA. This calls for caution when employing these screening approaches...
  35. ncbi Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus
    M Huizing
    Section on Human Biochemical Genetics, Heritable Disorders Branch, Bethesda, Maryland 20892 1830, USA
    Mol Genet Metab 74:217-25. 2001
    ..Furthermore, subtle gray exhibits a normal contingent of platelet dense bodies. Together, these data eliminate subtle gray as a murine model for HPS-3 disease and suggest that other mouse models be examined...
  36. ncbi Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases
    Christina R Hermos
    Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892 1851, USA
    Hum Mutat 20:482. 2002
    ..These complications are common among Puerto Rican HPS-1 patients but have not appeared in HPS-2 or HPS-3 patients. The diagnosis of HPS-1, available only on molecular grounds, has important prognostic and treatment implications...
  37. ncbi Craniofacial and dental findings in cystinosis
    C W Bassim
    National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA
    Oral Dis 16:488-95. 2010
    ..The objective of this study was to provide the first systematic assessment of the craniofacial and dental characteristics associated with cystinosis...
  38. ncbi Novel mutations in the HPS1 gene among Puerto Rican patients
    C Carmona-Rivera
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Clin Genet 79:561-7. 2011
    ..M325WfsX6). These findings indicate that, among Puerto Ricans, other HPS1 mutations apart from the 16-bp duplication should be considered in the analysis of this population...
  39. ncbi CTNS mutations in an American-based population of cystinosis patients
    V Shotelersuk
    Section of Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1830, USA
    Am J Hum Genet 63:1352-62. 1998
    ..These data demonstrate the origins of CTNS mutations in America and provide a basis for possible molecular diagnosis in this population...
  40. ncbi 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...
  41. ncbi High-performance liquid chromatography of lipids for the identification of human metabolic disease
    T C Markello
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, Bethesda, Maryland 20892
    Anal Biochem 198:368-74. 1991
    ..This system provides a tool for detecting lipids that accumulate in tissues of patients with currently unidentified metabolic storage disorders...
  42. ncbi Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene
    E C Dell'Angelica
    Cell Biology and Metabolism Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 275:1300-6. 2000
    ....
  43. ncbi Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics
    Paul D Anderson
    Medical Genetics Branch, MSC 1851, Building 10, Room 10C 103, NHGRI, NIH, 10 Center Drive, Bethesda, MD 20892 1851, USA
    Hum Genet 113:10-7. 2003
    ....
  44. ncbi 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...
  45. ncbi Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations
    Marjan Huizing
    Medical Genetics Branch, National Human Genome Research Institute NIH, Bethesda, MD, USA
    Mol Genet Metab 81:196-202. 2004
    ..These findings resemble those found for other congenital muscular dystrophies, suggesting that HIBM may be a "dystroglycanopathy," and providing an explanation for the muscle weakness of patients with GNE mutations...
  46. ncbi Molecular defects that affect platelet dense granules
    Meral Gunay-Aygun
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Semin Thromb Hemost 30:537-47. 2004
    ..The gene products involved in these disorders help elucidate the generalized process of the formation of vesicles from extant membranes such as the Golgi...
  47. ncbi Photoaffinity labeling of lysosomal membrane proteins with [125I]diiodotyrosine, a system h ligand
    H C Andersson
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Biochem Mol Med 55:71-3. 1995
    ..The 70-kDa protein may represent some portion of the system h carrier protein...
  48. ncbi The α-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome
    D M Maynard
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA
    J Thromb Haemost 8:1786-96. 2010
    ..For disorders such as gray platelet syndrome (GPS), in which thrombocytopenia, enlarged platelets and a paucity of α-granules are observed, only the clinical and histologic states have been defined...
  49. ncbi Glyceryl triacetate for Canavan disease: a low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model
    C N Madhavarao
    Department of Anatomy, Physiology and Genetics, Program in Neuroscience and Program in Molecular and Cell Biology, USUHS, 4301 Jones Bridge Road, Bethesda, MD, 20814, USA
    J Inherit Metab Dis 32:640-50. 2009
    ..Lack of GTA toxicity in two CD patients in low-dose trials, as well as in high-dose animal studies, suggests that higher, effective dose studies in human CD patients are warranted...
  50. ncbi Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
    S G Kaler
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    Nat Genet 8:195-202. 1994
    ..In both mutations, maintenance of some normal splicing is demonstrable by RT-PCR, cDNA sequencing and ribonuclease protection...
  51. ncbi 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)...
  52. ncbi Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy
    Ekaterini T Tsilou
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Ophthalmology 113:1002-9. 2006
    ....
  53. ncbi Eye movement abnormalities in hermansky-pudlak syndrome
    Libe Gradstein
    Laboratory of Sensorimotor Research, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA
    J AAPOS 9:369-78. 2005
    ..Although it is known that patients with HPS exhibit nystagmus, the nature of these abnormal eye movements has not been studied...
  54. ncbi Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy
    Emily Gottlieb
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda MD, USA
    Mol Genet Metab 86:244-9. 2005
    ..These data are valuable for future studies on the role of DAG1 in HIBM and other muscular dystrophies, especially those dystrophies that involve abnormal glycosylation of dystroglycan...
  55. ncbi Natural history of pulmonary fibrosis in two subjects with the same telomerase mutation
    Souheil El-Chemaly
    Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA
    Chest 139:1203-9. 2011
    ..TRIAL REGISTRY: ClinicalTrials.gov; No.: NCT00071045; URL: www.clinicaltrials.gov...
  56. ncbi 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...
  57. ncbi 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
  58. ncbi Musculoskeletal findings and disability in alkaptonuria
    Monique B Perry
    Rehabilitation Medicine Department, Clinical Center, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
    J Rheumatol 33:2280-5. 2006
    ..To describe the musculoskeletal (MSK) findings in patients with alkaptonuria and to show which of these factors are associated with disability in this population...
  59. ncbi Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5
    Amanda Helip-Wooley
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892 1851, USA
    J Invest Dermatol 127:1471-8. 2007
    ..We conclude that early stage melanosome formation and Pmel17 trafficking are preserved in HPS5-deficient cells. Tyrosinase and TYRP1 are mistrafficked, however, and fail to be efficiently delivered to melanosomes of HPS-5 melanocytes...
  60. ncbi Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome
    Marjan Huizing
    National Human Genome Research Institute, National Institutes of Health, Section on Human Biochemical Genetics, Medical Genetics Branch, Bethesda, MD 20892 1851, USA
    Platelets 18:150-7. 2007
    ..Thus, it is unlikely that the generalized bleeding diathesis of HPS is attributed to a deficiency of alpha granules...
  61. ncbi 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...
  62. ncbi PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis
    Meral Gunay-Aygun
    Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
    Mol Genet Metab 99:160-73. 2010
    ..In the meantime, use of PKHD1 sequencing data for clinical decisions requires caution, especially when only novel or rare missense variants are identified...
  63. ncbi Allele-specific silencing of the dominant disease allele in sialuria by RNA interference
    Riko 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...
  64. ncbi 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...
  65. ncbi Hermansky-Pudlak syndrome in two African-American brothers
    Melissa 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...
  66. ncbi Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1
    Irini 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...
  67. ncbi Hermansky-Pudlak syndrome type 1 in patients of Indian descent
    Lisa M Vincent
    Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI, NIH, 10 Center Drive, Bldg 10, Rm 10C107, MSC1851, Bethesda, MD 20892 1851, USA
    Mol Genet Metab 97:227-33. 2009
    ..398+5G>A and c.980-1G>T, to ensure that patients can be monitored and treated for clinical complications unique to HPS...
  68. ncbi MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome
    Meral Gunay-Aygun
    Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
    J Pediatr 155:386-92.e1. 2009
    ..To describe 3 children with mutations in a Meckel syndrome gene (MKS3), with features of autosomal recessive polycystic kidney disease (ARPKD), nephronophthisis, and Joubert syndrome (JS)...
  69. ncbi Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics
    Marjan Huizing
    Cell Biology of Metabolic Disorders Unit, National Institutes of Health, Bethesda, Maryland 20892, USA
    Annu Rev Genomics Hum Genet 9:359-86. 2008
    ..In this review, we discuss the main components of LRO biogenesis. We also summarize the function, composition, and resident cell types of the major LROs. Finally, we describe the clinical characteristics of the major human LRO disorders...
  70. ncbi Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain
    Pim Suwannarat
    Section on Human Biochemical Genetics, National Human Genome Research Institute, NIH Building 10, 10 Center Drive, Bethesda, MD 20892, USA
    Arthritis Rheum 50:3698-701. 2004
    ....
  71. ncbi 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...
  72. ncbi Hermansky-Pudlak syndrome: vesicle formation from yeast to man
    Marjan Huizing
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 1851, USA
    Pigment Cell Res 15:405-19. 2002
    ..Pursuit of the mechanism of mammalian vesicle formation and trafficking, impaired in HPS, relies upon investigation of these mouse models as well as studies of protein complexes involved in yeast vacuole formation...
  73. ncbi 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
  74. ncbi Idiopathic intracranial hypertension in cystinosis
    Cigdem F Dogulu
    Laboratory of Clinical Genomics, National Institute of Child Health and Development, Opthalmic Clinical Genetics Section, National Institutes of Health, Bethesda, MD 20892 4429, USA
    J Pediatr 145:673-8. 2004
    ..To report a high frequency of idiopathic intracranial hypertension (IIH) in patients with cystinosis and to speculate on the relationship between these two disorders...
  75. ncbi Use of a cDNA microarray to determine molecular mechanisms involved in grey platelet syndrome
    Tehila Hyman
    Laboratory of Cellular Carcinogenesis and Tumor Promotion, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Br J Haematol 122:142-9. 2003
    ....
  76. ncbi 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...
  77. ncbi 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...
  78. ncbi 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...
  79. ncbi Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity
    Robert 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...
  80. ncbi 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...
  81. ncbi Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)
    Baris Turkbey
    Molecular Imaging Program, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
    Pediatr Radiol 39:100-11. 2009
    ....
  82. ncbi Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1
    Farshid N Rouhani
    Pulmonary Critical Care Medicine Branch, National Heart, Lung, and Blood Institute, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Am J Respir Crit Care Med 180:1114-21. 2009
    ..The etiology of pulmonary fibrosis associated with HPS-1 is unknown...
  83. ncbi Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A
    Yair Anikster
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Building 10, 10 Center Drive, Bethesda, MD 20892 1830, USA
    Am J Hum Genet 71:407-14. 2002
    ....
  84. ncbi Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I)
    Shilpa Chetty-John
    NIH NHGRI, Medical Genetics Branch, Bethesda, Maryland 20892, USA
    Am J Med Genet A 152:2640-5. 2010
    ..Increased awareness and lifelong monitoring of visceral complications, particularly involving the liver, pancreas, and kidney, are essential for timely and accurate treatment...
  85. ncbi Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation
    Wendy J Introne
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-1851, USA
    Mol Genet Metab 77:136-42. 2002
    ....
  86. ncbi Natural history of alkaptonuria
    Chanika Phornphutkul
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892-1851, USA
    N Engl J Med 347:2111-21. 2002
    ..Although nitisinone can reduce HGA production in humans with homogentisate 1,2-dioxygenase deficiency, the long-term safety and efficacy of this treatment require further evaluation...
  87. ncbi 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...
  88. ncbi Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy
    Susan E Sparks
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Glycobiology 15:1102-10. 2005
    ..This cell-free approach can be applied to other glycosylation pathway enzymes that are difficult to evaluate in whole cells because their substrate specificities overlap with those of ancillary enzymes...
  89. ncbi Platelet-derived CD154: ultrastructural localization and clinical correlation in organ transplantation
    A H Charafeddine
    Emory Transplant Center, Emory University, Atlanta, GA, USA
    Am J Transplant 12:3143-51. 2012
    ..These data suggest that the immune effects of CD154 are likely mediated through local and not systemic mechanisms, and discourage the use of CD154 as a peripheral biomarker in organ transplantation...
  90. ncbi Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes
    D L Domingo
    Clinical Research Core, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA
    Oral Dis 15:187-95. 2009
    ..Craniofacial features include 'bird-like' facies, alopecia, craniofacial disproportion, and dental crowding. Our prospective study describes dental, oral soft tissue, and craniofacial bone features in HGPS...
  91. ncbi The metabolism of fatty acids in human Bietti crystalline dystrophy
    J Lee
    Ophthalmic Genetics and Clinical Services Branch, National Eye Institute, National Institutes of Health, 10 Center Drive MSC 1860, Bethesda, MD 20892, USA
    Invest Ophthalmol Vis Sci 42:1707-14. 2001
    ..These findings raise the possibility that abnormal lipid metabolism associated with BCD is the result of deficient lipid binding, elongation, or desaturation in contrast to the lysosomal acid lipase deficiency found in Wolman disease...
  92. ncbi Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor
    E C Dell'Angelica
    Cell Biology and Metabolism Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Cell 3:11-21. 1999
    ..Our results suggest that AP-3 functions in protein sorting to lysosomes and provide an example of a human disease in which altered trafficking of integral membrane proteins is due to mutations in a component of the sorting machinery...
  93. ncbi A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication
    M Arcos-Burgos
    National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA
    Mol Psychiatry 15:1053-66. 2010
    ..Linkage and replicated association of ADHD with a novel non-candidate gene (LPHN3) provide new insights into the genetics, neurobiology, and treatment of ADHD...
  94. ncbi Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies
    Nilo A Avila
    Department of Diagnostic Radiology, Warren G. Magnuson Clinical Center, National Institutes of Health, Bldg. 10, Rm. 1C-660, 10 Center Dr, MSC 1182, Bethesda, MD 20892-1182, USA
    AJR Am J Roentgenol 179:887-92. 2002
    ..CONCLUSION: High-resolution CT provides a good radiologic monitor of disease status and progression in patients with Hermansky-Pudlak syndrome and correlates well with patient age, extent of pulmonary dysfunction, and genetic findings...
  95. ncbi Effect of the secretory small GTPase Rab27B on breast cancer growth, invasion, and metastasis
    An Hendrix
    Medical Genetics Branch, National Human Genome Research Institute, 10 Center Dr, Bethesda, MD 20892, USA
    J Natl Cancer Inst 102:866-80. 2010
    ..001) in ER-positive human breast tumors. CONCLUSIONS Rab27B regulates invasive growth and metastasis in ER-positive breast cancer cell lines, and increased expression is associated with poor prognosis in humans...
  96. ncbi 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...
  97. ncbi 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...
  98. ncbi Bilateral staphylomas in a patient with Hermansky-Pudlak syndrome
    Johnny Tang
    Ophthalmic Genetics and Visual Functions Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892-1857, USA
    Retina 25:99-100. 2005
  99. ncbi 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...
  100. ncbi Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine
    Belinda 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...
  101. ncbi Ocular pathologic features of Hermansky-Pudlak syndrome type 1 in an adult
    Min Zhou
    National Eye Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
    Arch Ophthalmol 124:1048-51. 2006