Publications
The following papers
involving intramural ORD-supported staff were published in FY07:
- Savelkoul PJM, Manoli I, Sparks SE, Ciccone C, Gahl WA, Krasnewich DM, Huizing M. Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy. Mol Genet Metab 88:389-390, 2006.
- Sparks S, Rakocevic G, Joe G, Manoli I, Shrader J, Love MH, Sonies B, Ciccone C, Dorward H, Krasnewich D, Huizing M, Dalakas MC, Gahl WA. Intravenous immune globulin in hereditary inclusion body myopathy: A pilot study. BMC-Neurology 7:3, 2007.
- Galeano B, Klootwijk R, Manoli I, Sun M-S, Ciccone C, Darvish D, Starost MF, Zerfas PM, Hoffmann VJ, Hoogstraten-Miller S, Krasnewich DM, Gahl WA, Huizing M. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest 117:1585-1594, 2007.
- Gahl WA, Balog JZ, Kleta R. Nephropathic cystinosis in adults: Natural history and effects of oral cysteamine therapy. Annals Intern Med 147:242-250, 2007.
- Westbroek W, Adams D, Huizing M, Koshoffer A, Dorward H, Tinloy B, Parkes J, Helip-Wooley A, Kleta R, Tsilou E, Duvernay P, Digre K, Creel D, White JG, Boissy R, Gahl WA. Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype. J Invest Dermatol. In press, 2007.
- Helip-Wooley A, Kleta R, Gahl WA. Lysosomal free sialic acid storage disorders: Salla disease and ISSD. In Lysosomal Storage Diseases (Barranger JA, Cabrera M, eds). Springer, 2007.
- Kleta R, Helip-Wooley A, Gahl WA. Cystinosis. In Lysosomal Storage Diseases (Barranger JA, Cabrera M, eds). Springer, 2007.
- Kleta R, Gahl WA. Collecting evidence: the case of collectrin (TMEM27) and amino acid transport. Am J Physiol 292:F531-2, 2007.
Abstracts published by intramural ORD-funded staff in FY07 included:
- Westbroek W, Adams D, Helip-Wooley A, Dorward H, Kleta R, Boissy R, Parks J, Huizing M, Gahl WA. Chediak-Higashi syndrome: A genotype-phenotype correlation. Pigment Cell Res 19:356-377, 2006.
- Ciccone C, Krasnewich D, Klootwijk R, Manoli I, Sparks S, Gahl WA, Huizing M. Understanding diseases associated with mutation in the GNE gene, coding for UDP-GlcNAc 2-epimerse/ManNAc kinase. Am Soc Hum Genet Abstract Issue 259/1366C, 2006.
- Manoli I, Sparks S. Rakocevic G, Joe G, Shrader J, Sonies B, Ciccone C, Krasnewich D, Huizing M, Dalakas M, Gahl WA. Intravenous immune globulin treatment for Hereditary Inclusion Body Myopathy: A pilot study. Am Soc Hum Genet Abstract Issue 432/2385B, 2006.
- Huizing M, Klootwijk E, Manoli I, Galeano B, Sun MS, Ciccone C, Darvish D, Krasnewich D, Gahl WA. N-Acetylmannosamine treatment rescues a mouse model of Hereditary Inclusion Body Myopathy. Am Soc Hum Genet Abstract Issue 29/62, 2006.
- Gunay-Aygun M, Font-Montgomery E, Choyke P, Guay-Woodford L, Heller T, Kleta R, Mohan P, Quezado Z, Gahl WA. Natural history of Autosomal Recessive Polycystic Kidney Disease/Congenital Hepatic Fibrosis (ARPKD/CHF). Am Soc Hum Genet Abstract Issue 33/80, 2006.
- Introne WJ, Merideth MA, Gordon LB, Perry MB, Turner M, Clauss S. Sachdev V, Graf J, Smith ACM, Gerber LH, Reynolds JC, Yanovski JA, Cannon R, Gahl WA. Hutchinson-Gilford Progeria Syndrome (HGPS): Consistency of phenotype in 15 children. Am Soc Hum Genet Abstract Issue 116/529C, 2006.
- Font-Montgomery E, Ocak I, Choyke P, Guay-Woodford L, Heller T, Kleta R, Mohan P, Quezado Z, Gunay-Aygun M, Gahl WA. Portal hypertension associated with Autosomal Dominant Polycystic Kidney Disease (ADPKD). Am Soc Hum Genet Abstract Issue 125/579B, 2006.
- Bernardini I, Balog J, Golas G, O’Brien K, Kleta R, Gahl WA. Long-term benefits of early oral cysteamine therapy in cystinosis. Am Soc Hum Genet Abstract Issue 430/2372A, 2006.
- Kayser MA, Suwannarat P, Tuchman M, Tinloy B, Klein C, O’Brien K, Bernardini I, Gahl WA, Kleta R. Is disease severity in alkaptonuria modified by a common SNP in the organic anion transporter MRP4/ABCC4? Am Soc Hum Genet Abstract Issue 256/1351C, 2006.
- Kleta R, Coskun T, Tinloy B, Aydin HI, Gunay-Aygun M, Stanescu H, Bernardini, I Gahl WA. Iminoglycinuria: Molecular findings. Am Soc Hum Genet Abstract Issue 269/1427A, 2006.
- Tinloy B, Topaloglu R, Coskun T, Gunay-Aygun M, Anikster Y, Jeong A, Bakkaloglu A, Besbas N, Kalkanoglu S, Gahl WA, Kleta R. New molecular findings in Turkish cystinosis patients. Am Soc Hum Genet Abstract Issue 356/1945C, 2006.
- Golas G, Hess R, Helip-Wooley A, Huizing M, Gahl WA. Hermansky-Pudlak Syndrome in non-Puerto Rican Hispanic children. Am Soc Hum Genet Abstract Issue 262/1385A, 2006.
- O’Brien K, Tsilou E, Lynch M, Stuart C, Jeong A, Kleta R, Gahl WA. Gitelman syndrome and sclerochoroidal calcifications: The critical importance of renal regulation in calcium homeostasis. Am Soc Hum Genet Abstract Issue 250/1311B, 2006.
- Tuchman M, Kleta R, Gunay-Aygun M, Huizing M, Westbroek W, Helip-Wooley A, Hetz JM, Gahl WA. A novel mutation in the RAB27A gene causing Griscelli Syndrome. Am Soc Hum Genet Abstract Issue 216/1116B, 2006.
- Stanescu H, Unwin R, Heikkila TJ, Willoughby C, Kashgarian M, O’Brien K, Siegel N, van’t Hoff W, Bockenhauer D, Gahl WA, Povey S, Kleta R. Redefining a locus for autosomal dominant Fanconi syndrome with kidney failure. Am Soc Hum Genet Abstract Issue 288/1543C, 2006.
- Landoure G, Stanescu H, Knight MA, Arcos-Burgos M, Pineda D, Gahl WA, Fischbeck KH, Kleta R. Pitfalls in homozygosity mapping – revisited. Am Soc Hum Genet Abstract Issue 294/1579C, 2006.
- Merideth M, Introne WJ, Gordon LB, Smith ACM, Gahl WA. Clinical presentation and diagnosis of patients with Hutchinson-Gilford Progeria Syndrome. Am Soc Hum Genet Abstract Issue 119/545A, 2006.
- Hess R, Helip-Wooley A, Kleta R, Huizing M, Gahl WA. The genetics of Hermansky-Pudlak Syndrome. Am Soc Hum Genet Abstract Issue 255/1343A, 2006.
- Westbroek W, Adams D, Koshoffer A, Dorward H, Helip-Wooley A, Huizing M, Parks J, Kleta R, Boissy R, Gahl WA. Chediak-Higashi syndrome: A genotype-phenotype correlation. Am Soc Hum Genet Abstract Issue 59/211, 2006.
- Perry MB, Introne WJ, Merideth M, Gordon LB, Gahl WA, Gerber LH. Impairments and function limitations in Hutchinson-Gilford Progeria. Arch Phys Med Rehab 87:E23, 2006.
- Klootwijk E, Manoli I, Galeano B, Sun MS, Ciccone C, Bond W, Darvish D, Krasnewich D, Gahl WA, Huizing M. N-Acetylmannosamine treatment rescues GNE knock-in mice from severe neonatal glomerular hematuria and podocytopathy: Insights for hereditary inclusion body myopathy. Mol Genet Metab 90:241-2/7, 2007.
- Font-Montgomery EE, Ocak I, Choyke P, Heller T, Kleta R, Edwards H, Mohan P, Guay-Woodford L, Daryanani K, Quezado Z, Gahl WA, Gunay-Aygun M. Autosomal dominant polycystic kidney disease (ADPKD) mimicking autosomal recessive polycystic kidney disease (ARPKD) with congenital hepatic fibrosis (CHF) and portal hypertension (PH). Mol Genet Metab 90:251/20, 2007.
- Kayser MA, Suwannarat P, Introne W, Austin HA, Tuchman M, Tinloy B, Klein C, O’Brien K, Bernardini I, Gahl WA, Kleta R. Can a common SNP in the organic anion transporter MRP4/ABCC4 influence homogentisic acid secretion and the severity of ochronosis in alkaptonuria? Mol Genet Metab 90:255/34, 2007.
- Merideth MA, Introne WJ, Zalewski C, Brewer C, Gordon LB, Smith ACM, Kim HJ, Gahl WA. Hearing loss in children with Hutchinson-Gilford Progeria Syndrome. ACMG Annual Meeting Abstract Issue 121/127, 2007.
- Gunay-Aygun M, Font-Montgomery E, Choyke P, Guay-Woodford L, Heller T, Kleta R, Mohan P, Daryanani K, Quezado Z, Gahl WA. Autosomal Recessive Polycystic Kidney Disease/Congenital Hepatic Fibrosis (ARPKD/CHF): Differential diagnosis and natural history. ACMG Annual Meeting Abstract Issue 94/28, 2007.
- Huizing M, Klootwijk R, Manoli I, Sun MS, Ciccone C, Darvish D, Starost MF, Zerfas PM, Hoffmann VJ, Hoogstraten-Miller S, Krasnewich DM, Gahl WA. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Inherit Metab Dis 30 (Suppl 1): 249-O, 2007.
- Domingo DL,Trujillo MI, Guadagnini JP, Gordon L, Merideth MA, Introne WJ, Gahl WA, Hart TC. Hutchinson-Gilford Progeria Syndrome: Oral-craniofacial phenotypes. Am Assoc Dental Research Annual Meeting, 2007.
- Klootwijk E, Manoli I, Galeano B, Hickey D, Bond W. Ciccone C, Darvish D, Krasnewich D, Gahl WA, Huizing M. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. Glycobiology Society Annual Meeting, San Diego, 2007.