Genetics Laboratories Publications

Below is a list of publications to which work performed at the Genetics Laboratories at Kennedy Krieger Institute has contributed.

Wassif CA, Zhu P, Kratz L, Krakowiak PA, Battaile KP, Weight FF, Grinberg A, Steiner RD, Nwokoro NA, Kelley RI, Stewart RR, Porter FD. Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome. Hum Mol Genet 2001 10:555-564.

Linday LA, Dolitsky JN, Shindledecker RD, Pippenger CE. Lemon-flavored cod liver oil and a multivitamin-mineral supplement for the secondary prevention of otitis media in young children: pilot research. Ann Otol Rhinol Laryngol 2002 111: 642-652.

Moseley K, Koch R, Moser AB, Lipid status of long-chain polyunsaturated fatty acid concentrations in adults and adolescents with phenylketonuria on phenylalanine-restricted diet. J Inherit Metab Dis 2002 25:56-64.

Hoover-Fong J, Moser A, Moser H, Diener-West M, O’Brien K, Hamosh A, Rosenstein B, Boyle M, Cutting G, Fatty acid imbalance in cystic fibrosis associated with pulmonary disease severity. Am J Hum Genet 2003 73(Supplement):465a.

Krakowiak PA, Wassif CA, Kratz L, Cozma D, Kovarova M, Harris G, Grinberg A, Yang Y, Hunter AG,Tsokos M, Kelley RI, Porter FD. Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. Hum Mol Genet. 2003 12:1631-41.

Kwiterovich PO Jr, Chen SC, Virgil DG, Schweitzer A, Arnold DR, Kratz LE. Response of obligate heterozygotes for phytosterolemia to a low-fat diet and to a plant sterol ester dietary challenge. J Lipid Res. 2003 44:1143-55.

Linday LA, Dolitsky JN, Shindledecker RD. Nutritional supplements as adjunctive therapy for children with chronic/recurrent sinusitis: pilot research. Int J of Pediatric Otorhinolaryngology 2004 68: 785-793.

Linday LA, Shindledecker RD, Tapia-Mendoza J, Dolitsky RD. Effect of daily cod liver oil and a multivitamin-mineral supplement with selenium on upper respiratory tract pediatric visits by young, inner-city, Latino children: randomized pediatric sites. Ann Otol Rhinol Laryngol 2004 113: 204: 891-901.

Berson EJ, Rosner B, Sandberg MA, Weigel-DiFranco C, Moser A, Brockhurst RJ, Hayes KC, Johnson CA, Anderson EJ, Gaudio AR, Willet WC, Schaefer EJ, Clinical trial of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment. Arch Ophthalmol 2004 122:1297-1305.

Berson EJ, Rosner B, Sandberg MA, Weigel-DiFranco C, Moser A, Brockhurst RJ, Hayes KC, Johnson CA, Anderson EJ, Gaudio AR, Willet WC, Schaefer EJ. Further evaluation of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment subgroup analyses. Arch Ophthalmol 2004 122:1306

Barreiro CJ, Williams JA, Fitton TP, Lange MS, Blue ME, Kratz L, Barker PB, Degaonkar M, Gott VL, Troncoso JC, Johnston MV, Baumgartner WA. Noninvasive assessment of brain injury in a canine model of hypothermic circulatory arrest using magnetic resonance spectroscopy. Ann Thorac Surg. 2006 81:1593-8.

Williams JA, Barreiro CJ, Nwakanma LU, Lange MS, Kratz LE, Blue ME, Berrong J, Patel ND, Gott VL, Troncoso JC, Johnston MV, Baumgartner WA. Valproic acid prevents brain injury in a canine model of hypothermic circulatory arrest: a promising new approach to neuroprotection during cardiac surgery. Ann Thorac Surg. 2006 81:2235-41.

Alexander JW, Goodman HR, Sucoop P, Light JA, Kuo PC, Moser AB, James JH, Woodle ES. Influence of long chain polyunsaturated fatty acids and ornitine concentrations on complications after renal transplant. Exp Clin Transplant 2008 Jun;6(2):118-26.

Savransky V, Jun J, Li J, Nanayakkara A, Fonti S, Moser A, Steele K, Schweitzer M, Patil S, Bhanot S, Schwartz A, Polotsky V. Dyslipidemia and Atherosclerosis Induced by Chronic Intermittent Hypoxia Are Attenuated by Deficiency of Stearoyl Coenzyme A Desaturase. Circulation Research 2008 103:1173-1180.

Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini P, Giros M, Kelley RI, Krajewska-Walasek M, et al. Age and origin of major Smith-Lemli-Opitz Syndrome (SLOS) mutations in European populations. J Med Genet. 45:200-209, 2008

Weissman JR, Kelley RI, Bauman ML, Cohen BH, Murray KF, Mitchell RL, Kern RL, Natowicz MR. Mitochondrial disease in autism spectrum disorder patients: a cohort analysis. PLoS ONE 2008 3: e3815

McLarren KW, Severson TM, du Souich C, et al. Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. Am J Hum Genet. 2010 87:905-14.

Strauss KA, Wardley B, Robinson D, Hendrickson C, Rider NL, Puffenberger EG, Shelmer D, Moser AB, Morton DH. Classical maple syrup urine disease and brain development: principles of management and formula design. Mol Genet Metab 2010 Apr; 99(4): 333-45.

Pei W, Kratz LE, Bernardini I, Sood R, Yokogawa T, Dorward H, Ciccone C, Kelley RI, Anikster Y, Burgess HA,, Huizing M, Feldman B. A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3. Development 2010 137(15):2587-96.

Watkins PA, Moser AB, Tooner CB, Steinberg SJ, Moser HW, Karaman MW, Ramaway K, Siegmund KD, Lee DR, Ely JJ, Ryder OA, Hacia JC. 2010. Identification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functions. BMC Physiol 2010 Oct 8;10:19.

He M, Kratz LE, Michel JJ, et al. Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. J Clin Invest. 2011;121:976-84

Gleason JE, Corrigan DJ, Cox JE, Reddi AR, McGinnis LA, et al. Analysis of Hypoxia and Hypoxia-Like States through Metabolite Profiling. PLoS 2011;6(9):e24741.

Sandlers Y, Moser AB, Hubbard WC, Kratz LE, Jones RO, Raymond GV. Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: Prospective newborn screening for X-linked adrenoleukodystrophy. Mol Genet Metab. 2011 Dec 2. [Epub ahead of print]

Schaaf CP, Koster J, Katsonis P, et al. Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. Am J Med Genet A. 155:1597-604, 2011.

DeBarber AE, Sandlers Y, Pappu AS, Merkens LS, Duell PB, Lear SR, Erickson SK, Steiner RD. Profiling sterols in cerebrotendinous xanthomatosis: utility of Girard derivatization and high resolution exact mass LC-ESI-MS(n) analysis. J Chromatogr B Analyt Technol Biomed Life Sci. 2011 May 15;879(17-18):1384-92.

Stottmann RW, Turbe-Doan A, Tran P, Kratz LE, Moran JL, et al. Cholesterol Metabolism Is Required for Intracellular Hedgehog Signal Transduction In Vivo. PLoS Genet 2011 7(9): e1002224.

Clark PJ, Thompson AJ, Vock DM, Kratz LE, Tolun AA, Muir AJ, McHutchison JG, Subramanian M, Millington DM, Kelley RI, Patel K. Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype specific manner. Hepatology. 2012 Feb 9. doi: 10.1002/hep.25631.