Medical & Molecular Genetics

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2004

Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease

Nichols, W. C., Uniacke, S. K., Pankratz, N., Reed, T., Simon, D. K., Halter, C., Rudolph, A., Shults, C. W., Conneally, P. M., Foroud, T., Wojcieszek, J., Belden, J., Carter, J., Camicioli, R., Andrews, P., Panisset, M., Hall, J., Hubble, J., Fernandez, M., Reider, C. & 79 others, Rajput, A., Rajput, A., Shirley, T., Mendis, T., Grimes, D. A., Gray, P., Ramos, C. S., Roque, S., Pfeiffer, R., Pfeiffer, B., Elmer, L., Davis, K., Friedman, J., Fernandez, H., Lannon, M., Reich, S., Dunlop, B., Seeberger, L., O'Brien, C., Judd, D., Hauser, R., Zesiewicz, T., Delgado, H., Shults, C., Fontaine, D., Jennings, D., Marek, K., Mendick, S., Aminoff, M., DiMinno, M., Lewitt, P., DeAngelis, M., Pahwa, R., Thomas, S., Truong, D., Pathak, M., Tran, A., Rodnitzky, R., Dobson, J., Koller, W., Weiner, W., Lyons, K., Kurlan, R., Berry, D., Bertoni, J., Peterson, C., Martin, W., Tuite, P., Schacherer, R., Marder, K., Harris, J., Jankovic, J., Hunter, C., Lang, A., Kleimer-Fisman, G., Nieves, A., So, J., Factor, S., Evans, S., Manyam, B., Wulbrecht, B., Walker, F., Hunt, V., Gordon, M. F., Hamman, J., Kang, U. J., Young, J., Blindauer, K., Petit, J., Rao, J., Cook, M., Stacy, M., Williamson, K., Pullman, R. S., Boyar, K., Leehey, M., Derian, T., Gordon, P. & Werner, J., Jun 1 2004, In : Movement Disorders. 19, 6, p. 649-655 7 p.

Research output: Contribution to journalArticle

32 Scopus citations

False positive rates in association studies as a function of degree of stratification

Koller, D. L., Peacock, M., Lai, D., Foroud, T. & Econs, M. J., Aug 1 2004, In : Journal of Bone and Mineral Research. 19, 8, p. 1291-1295 5 p.

Research output: Contribution to journalArticle

17 Scopus citations

Familial Interstitial Duplication of 11q; Partial Trisomy (11)(q13.5q21)

Yelavarthi, K. K. & Zunich, J., May 2004, In : American Journal of Medical Genetics. 126 A, 4, p. 423-426 4 p.

Research output: Contribution to journalArticle

23 Scopus citations

FGF23 is processed by proprotein convertases but not by PHEX

Benet-Pagès, A., Lorenz-Depiereux, B., Zischka, H., White, K. E., Econs, M. J. & Strom, T. M., Aug 1 2004, In : Bone. 35, 2, p. 455-462 8 p.

Research output: Contribution to journalArticle

185 Scopus citations

Genes influencing Parkinson disease onset: Replication of PARK3 and identification of novel loci

Pankratz, N., Uniacke, S. K., Halter, C. A., Rudolph, A., Shults, C. W., Conneally, P. M., Foroud, T. & Nichols, W. C., May 11 2004, In : Neurology. 62, 9, p. 1616-1618 3 p.

Research output: Contribution to journalArticle

33 Scopus citations

Genetics of Parkinson Disease

Pankratz, N. & Foroud, T., Apr 1 2004, In : NeuroRx. 1, 2, p. 235-242 8 p.

Research output: Contribution to journalArticle

36 Scopus citations

Genome-Wide Scan for a Healthy Aging Phenotype Provides Support for a Locus Near D4S1564 Promoting Healthy Aging

Reed, T., Dick, D. M., Uniacke, S. K., Foroud, T. & Nichols, W. C., Mar 1 2004, In : Journals of Gerontology - Series A Biological Sciences and Medical Sciences. 59, 3, p. 227-232 6 p.

Research output: Contribution to journalArticle

37 Scopus citations

Glutathione S-transferase 8-8 expression is lower in alcohol-preferring than in alcohol-nonpreferring rats

Liang, T., Habegger, K., Spence, J. P., Foroud, T., Ellison, J. A., Lumeng, L., Li, T. K. & Carr, L. G., Nov 1 2004, In : Alcoholism: Clinical and Experimental Research. 28, 11, p. 1622-1628 7 p.

Research output: Contribution to journalArticle

20 Scopus citations

Heterogeneity of Gleason grade in multifocal adenocarcinoma of the prostate

Arora, R., Koch, M. O., Eble, J. N., Ulbright, T. M., Li, L. & Cheng, L., Jun 1 2004, In : Cancer. 100, 11, p. 2362-2366 5 p.

Research output: Contribution to journalArticle

216 Scopus citations

Hsp90-binding immunophilins link p53 to dynein during p53 transport to the nucleus

Galigniana, M. D., Harrell, J. M., O'Hagen, H. M., Ljungman, M. & Pratt, W. B., May 21 2004, In : Journal of Biological Chemistry. 279, 21, p. 22483-22489 7 p.

Research output: Contribution to journalArticle

118 Scopus citations

Human Immunodeficiency Virus Type 1-Derived Lentivirus Vectors Pseudotyped with Envelope Glycoproteins Derived from Ross River Virus and Semliki Forest Virus

Kahl, C. A., Marsh, J., Fyffe, J., Sanders, D. A. & Cornetta, K., Feb 2004, In : Journal of virology. 78, 3, p. 1421-1430 10 p.

Research output: Contribution to journalArticle

45 Scopus citations

Independent effects of APOE on cholesterol metabolism and brain Aβ levels in an Alzheimer disease mouse model

Mann, K. M., Thorngate, F. E., Katoh-Fukui, Y., Hamanaka, H., Williams, D. L., Fujita, S. & Lamb, B. T., Sep 1 2004, In : Human molecular genetics. 13, 17, p. 1959-1968 10 p.

Research output: Contribution to journalArticle

32 Scopus citations

Linkage and linkage disequilibrium of evoked EEG oscillations with CHRM2 receptor gene polymorphisms: Implications for human brain dynamics and cognition

Jones, K. A., Porjesz, B., Almasy, L., Bierut, L., Goate, A., Wang, J. C., Dick, D. M., Hinrichs, A., Kwon, J., Rice, J. P., Rohrbaugh, J., Stock, H., Wu, W., Bauer, L. O., Chorlian, D. B., Crowe, R. R., Edenberg, H. J., Foroud, T., Hesselbrock, V., Kuperman, S. & 7 others, Nurnberger, J., O'Connor, S. J., Schuckit, M. A., Stimus, A. T., Tischfield, J. A., Reich, T. & Begleiter, H., Jul 1 2004, In : International Journal of Psychophysiology. 53, 2, p. 75-90 16 p.

Research output: Contribution to journalArticle

110 Scopus citations

Lipopolysaccharide negatively modulates vitamin D action by down-regulating expression of vitamin D-induced VDR in human monocytic THP-1 cells

Pramanik, R., Asplin, J. R., Lindeman, C., Favus, M. J., Bai, S. & Coe, F. L., Nov 1 2004, In : Cellular Immunology. 232, 1-2, p. 137-143 7 p.

Research output: Contribution to journalArticle

27 Scopus citations

Loci on chromosomes 6q and 6p interact to increase susceptibility to bipolar affective disorder in the national institute of mental health genetics initiative pedigrees

Schulze, T. G., Buervenich, S., Badner, J. A., Steele, C. J. M., Detera-Wadleigh, S. D., Dick, D., Foroud, T., Cox, N. J., MacKinnon, D. F., Potash, J. B., Berrettini, W. H., Byerley, W., Coryell, W., DePaulo, J. R., Gershon, E. S., Kelsoe, J. R., McInnis, M. G., Murphy, D. L., Reich, T., Scheftner, W. & 2 others, Nurnberger, J. I. & McMahon, F. J., Jul 1 2004, In : Biological psychiatry. 56, 1, p. 18-23 6 p.

Research output: Contribution to journalArticle

57 Scopus citations

Loss of 14-3-3σ in Prostate Cancer and Its Precursors

Cheng, L., Pan, C. X., Zhang, J. T., Zhang, S., Kinch, M. S., Li, L., Baldridge, L. A., Wade, C., Hu, Z., Koch, M. O., Ulbright, T. M. & Eble, J. N., May 1 2004, In : Clinical Cancer Research. 10, 9, p. 3064-3068 5 p.

Research output: Contribution to journalArticle

83 Scopus citations

NF-κB-regulated expression of cellular FLIP protects rheumatoid arthritis synovial fibroblasts from tumor necrosis factor α-mediated apoptosis

Bai, S., Liu, H., Chen, K. H., Eksarko, P., Perlman, H., Moore, T. L. & Pope, R. M., Dec 1 2004, In : Arthritis and Rheumatism. 50, 12, p. 3844-3855 12 p.

Research output: Contribution to journalArticle

56 Scopus citations

Nuclear factor-κB is constitutively activated in prostate cancer in vitro and is overexpressed in prostatic intraepithelial neoplasia and adenocarcinoma of the prostate

Sweeney, C., Li, L., Shanmugam, R., Bhat-Nakshatri, P., Jayaprakasan, V., Baldridge, L. A., Gardner, T., Smith, M., Nakshatri, H. & Cheng, L., Aug 15 2004, In : Clinical Cancer Research. 10, 16, p. 5501-5507 7 p.

Research output: Contribution to journalArticle

147 Scopus citations

Oculomotor control in asymptomatic and recently diagnosed individuals with the genetic marker for Huntington's disease

Blekher, T. M., Yee, R. D., Kirkwood, S. C., Hake, A. M., Stout, J. C., Weaver, M. R. & Foroud, T. M., Oct 1 2004, In : Vision Research. 44, 23, p. 2729-2736 8 p.

Research output: Contribution to journalArticle

62 Scopus citations

PC Cell-Derived Growth Factor Expression in Prostatic Intraepithelial Neoplasia and Prostatic Adenocarcinoma

Pan, C. X., Kinch, M. S., Kiener, P. A., Langermann, S., Serrero, G., Sun, L., Corvera, J., Sweeney, C. J., Li, L., Zhang, S., Baldridge, L. A., Jones, T. D., Koch, M. O., Ulbright, T. M., Eble, J. N. & Cheng, L., Feb 15 2004, In : Clinical Cancer Research. 10, 4, p. 1333-1337 5 p.

Research output: Contribution to journalArticle

55 Scopus citations

Peak bone mineral density at the hip is linked to chromosomes 14q and 15q

Peacock, M., Koller, D. L., Hui, S., Johnston, C. C., Foroud, T. & Econs, M. J., Jun 2004, In : Osteoporosis International. 15, 6, p. 489-496 8 p.

Research output: Contribution to journalArticle

51 Scopus citations

QT analysis: A complex answer to a 'simple' problem

Li, L., Desai, M., Desta, Z. & Flockhart, D., Sep 15 2004, In : Statistics in Medicine. 23, 17, p. 2625-2643 19 p.

Research output: Contribution to journalArticle

16 Scopus citations

Renal Phosphate Wasting Disorders: Clinical Features and Pathogenesis

Brame, L. A., White, K. E. & Econs, M. J., Jan 2004, In : Seminars in Nephrology. 24, 1, p. 39-47 9 p.

Research output: Contribution to journalArticle

46 Scopus citations

Resolution of severe, adolescent-onset hypophosphatemic rickets following resection of an FGF-23-producing tumour of the distal ulna

Ward, L. M., Rauch, F., White, K. E., Filler, G., Matzinger, M. A., Letts, M., Travers, R., Econs, M. J. & Glorieux, F. H., May 1 2004, In : Bone. 34, 5, p. 905-911 7 p.

Research output: Contribution to journalArticle

51 Scopus citations

Root resorption associated with orthodontic force in IL-1B knockout mouse

Al-Qawasmi, R. A., Hartsfield, J. K., Everett, E. T., Weaver, M. R., Foroud, T. M. & Roberts, W. E., Dec 1 2004, In : Journal of Musculoskeletal Neuronal Interactions. 4, 4, p. 383-385 3 p.

Research output: Contribution to journalArticle

29 Scopus citations
25 Scopus citations

Severe lower limb defects in exstrophy of the cloaca

Jain, M. & Weaver, D. D., Jul 30 2004, In : American Journal of Medical Genetics. 128 A, 3, p. 320-324 5 p.

Research output: Contribution to journalArticle

19 Scopus citations

Suppression of SARS-CoV entry by peptides corresponding to heptad regions on spike glycoprotein

Yuan, K., Yi, L., Chen, J., Qu, X., Qing, T., Rao, X., Jiang, P., Hu, J., Xiong, Z., Nie, Y., Shi, X., Wang, W., Ling, C., Yin, X., Fan, K., Lai, L., Ding, M. & Deng, H., Jul 2 2004, In : Biochemical and Biophysical Research Communications. 319, 3, p. 746-752 7 p.

Research output: Contribution to journalArticle

62 Scopus citations

The Caenorhabditis elegans Ror RTK CAM-1 inhibits EGL-20/Wnt signaling in cell migration

Forrester, W. C., Kim, C. & Garriga, G., Dec 1 2004, In : Genetics. 168, 4, p. 1951-1962 12 p.

Research output: Contribution to journalArticle

56 Scopus citations

The search for genetic risk factors associated with suicidal behavior

Hesselbrock, V., Dick, D., Hesselbrock, M., Foroud, T., Schuckit, M., Edenberg, H., Bucholz, K., Kramer, J., Reich, T., Goate, A., Bierut, L., Rice, J. P. & Nurnberger, J. I., May 1 2004, In : Alcoholism: Clinical and Experimental Research. 28, 5 SUPPL., p. 70S-76S

Research output: Contribution to journalArticle

52 Scopus citations

Variations in GABRA2, Encoding the α2 Subunit of the GABA A Receptor, Are Associated with Alcohol Dependence and with Brain Oscillations

Edenberg, H. J., Dick, D. M., Xuei, X., Tian, H., Almasy, L., Bauer, L. O., Crowe, R. R., Goate, A., Hesselbrock, V., Jones, K., Kwon, J., Li, T. K., Nurnberger, J. I., O'Connor, S. J., Reich, T., Rice, J., Schuckit, M. A., Porjesz, B., Foroud, T. & Begleiter, H., Apr 2004, In : American Journal of Human Genetics. 74, 4, p. 705-714 10 p.

Research output: Contribution to journalArticle

487 Scopus citations

Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset

Wexler, N. S., Lorimer, J., Porter, J., Gomez, F., Moskowitz, C., Shackell, E., Marder, K., Penchaszadeh, G., Roberts, S. A., Gayán, J., Brocklebank, D., Cherny, S. S., Cardon, L. R., Gray, J., Dlouhy, S. R., Wiktorski, S., Hodes, M. E., Conneally, P. M., Penney, J. B., Gusella, J. & 38 others, Cha, J. H., Irizarry, M., Rosas, D., Hersch, S., Hollingsworth, Z., MacDonald, M., Young, A. B., Andresen, J. M., Housman, D. E., Mieja De Young, M., Bonilla, E., Stillings, T., Negrette, A., Snodgrass, S. R., Martinez-Jaurrieta, M. D., Ramos-Arroyo, M. A., Bickham, J., Ramos, J. S., Marshall, F., Shoulson, I., Rey, G. J., Feigin, A., Arnheim, N., Acevedo-Cruz, A., Acosta, L., Alvir, J., Fischbeck, K., Thompson, L. M., Young, A., Dure, L., O'Brien, C. J., Paulsen, J., Brickman, A., Krch, D., Peery, S., Hogarth, P., Higgins, D. S. & Landwehrmeyeri, B., Mar 9 2004, In : Proceedings of the National Academy of Sciences of the United States of America. 101, 10, p. 3498-3503 6 p.

Research output: Contribution to journalArticle

491 Scopus citations

Who seeks genetic susceptibility testing for Alzheimer's disease? Findings from a multisite, randomized clinical trial

Roberts, J. S., Barber, M., Brown, T. M., Cupples, L. A., Farrer, L. A., LaRusse, S. A., Post, S. G., Quaid, K. A., Ravdin, L. D., Relkin, N. R., Sadovnick, A. D., Whitehouse, P. J., Woodard, J. L. & Green, R. C., Jul 1 2004, In : Genetics in Medicine. 6, 4, p. 197-203 7 p.

Research output: Contribution to journalArticle

80 Scopus citations
2005

A 37-year-old man with a pleural mass

Eichelberger, L., Jones, T. D., Vance, G. & Saxena, R., Aug 1 2005, In : Archives of Pathology and Laboratory Medicine. 129, 8, p. 1063-1064 2 p.

Research output: Contribution to journalArticle

6 Scopus citations

Acute panmyelosis with myelofibrosis: An entity distinct from acute megakaryoblastic leukemia

Orazi, A., O'Malley, D. P., Jiang, J., Vance, G. H., Thomas, J., Czader, M., Fang, W., An, C. & Banks, P. M., May 2005, In : Modern Pathology. 18, 5, p. 603-614 12 p.

Research output: Contribution to journalArticle

56 Scopus citations

Adults with VATER association: Long-term prognosis

Wheeler, P. G. & Weaver, D. D., Oct 15 2005, In : American Journal of Medical Genetics. 138 A, 3, p. 212-217 6 p.

Research output: Contribution to journalArticle

13 Scopus citations

AML1-FOG2 fusion protein in myelodysplasia

Chan, E. M., Comer, E. M., Brown, F. C., Richkind, K. E., Holmes, M. L., Chong, B. H., Shiffman, R., Zhang, D. E., Slovak, M. L., Willman, C. L., Noguchi, C. T., Li, Y., Heiber, D. J., Kwan, L., Chan, R. J., Vance, G. H., Ramsey, H. C. & Hromas, R. A., Jun 1 2005, In : Blood. 105, 11, p. 4523-4526 4 p.

Research output: Contribution to journalArticle

25 Scopus citations

A mutation in myotilin causes spheroid body myopathy

Foroud, T., Pankratz, N., Batchman, A. P., Pauciulo, M. W., Vidal, R., Miravalle, L., Goebel, H. H., Cushman, L. J., Azzarelli, B., Horak, H., Farlow, M. & Nichols, W. C., Dec 1 2005, In : Neurology. 65, 12, p. 1936-1940 5 p.

Research output: Contribution to journalArticle

62 Scopus citations

Analysis of the biochemical mechanisms for the endocrine actions of fibroblast growth factor-23

Yu, X., Ibrahimi, O. A., Goetz, R., Zhang, F., Davis, S. I., Garringer, H. J., Linhardt, R. J., Ornitz, D. M., Mohammadi, M. & White, K. E., Nov 2005, In : Endocrinology. 146, 11, p. 4647-4656 10 p.

Research output: Contribution to journalArticle

149 Scopus citations

Analysis of variation in expression of autosomal dominant osteopetrosis type 2: Searching for modifier genes

Chu, K., Koller, D. L., Snyder, R., Fishburn, T., Lai, D., Waguespack, S. G., Foroud, T. & Econs, M. J., Nov 1 2005, In : Bone. 37, 5, p. 655-661 7 p.

Research output: Contribution to journalArticle

28 Scopus citations

A report of three patients with an interstitial deletion of chromosome 15q24

Cushman, L. J., Torres-Martinez, W., Cherry, A. M., Manning, M. A., Abdul-Rahman, O., Anderson, C. E., Punnett, H. H., Thurston, V. C., Sweeney, D. & Vance, G. H., Aug 15 2005, In : American Journal of Medical Genetics. 137 A, 1, p. 65-71 7 p.

Research output: Contribution to journalArticle

24 Scopus citations

A sex-adjusted and age-adjusted genome screen for nested alcohol dependence diagnoses

Corbett, J., Saccone, N. L., Foroud, T., Goate, A., Edenberg, H., Nurnberger, J., Porjesz, B., Begleiter, H., Reich, T. & Rice, J. P., Mar 1 2005, In : Psychiatric genetics. 15, 1, p. 25-30 6 p.

Research output: Contribution to journalArticle

19 Scopus citations

Association between the CYP3A5 genotype and blood pressure

Ho, H., Pinto, A., Hall, S. D., Flockhart, D. A., Li, L., Skaar, T. C., Cadman, P., O'Connor, D. T., Wagner, U., Fineberg, N. S. & Weinberger, M. H., Feb 1 2005, In : Hypertension. 45, 2, p. 294-298 5 p.

Research output: Contribution to journalArticle

74 Scopus citations
9 Scopus citations

A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors

Duan, Q. L., Nikpoor, B., Dubé, M. P., Molinaro, G., Meijer, I. A., Dion, P., Rochefort, D., Saint-Onge, J., Flury, L., Brown, N. J., Gainer, J. V., Rouleau, J. L., Agostoni, A., Cugno, M., Simon, P., Clavel, P., Potier, J., Wehbe, B., Benarbia, S., Marc-Aurèle, J. & 4 others, Chanard, J., Foroud, T., Adam, A. & Rouleau, G. A., Oct 2005, In : American Journal of Human Genetics. 77, 4, p. 617-626 10 p.

Research output: Contribution to journalArticle

97 Scopus citations
26 Scopus citations
15 Scopus citations

Contribution of the LRP5 gene to normal variation in peak BMD in women

Koller, D. L., Ichikawa, S., Johnson, M. L., Lai, D., Xuei, X., Edenberg, H. J., Conneally, P. M., Hui, S. L., Johnston, C. C., Peacock, M., Foroud, T. & Econs, M. J., Dec 9 2005, In : Journal of Bone and Mineral Research. 20, 1, p. 75-80 6 p.

Research output: Contribution to journalArticle

80 Scopus citations

CYP2D6 genotype, antidepressant use, and tamoxifen metabolism during adjuvant breast cancer treatment

Jin, Y., Desta, Z., Stearns, V., Ward, B., Ho, H., Lee, K. H., Skaar, T., Storniolo, A. M., Li, L., Araba, A., Blanchard, R., Nguyen, A., Ullmer, L., Hayden, J., Lemler, S., Weinshilboum, R. M., Rae, J. M., Hayes, D. F. & Flockhart, D. A., Jan 5 2005, In : Journal of the National Cancer Institute. 97, 1, p. 30-39 10 p.

Research output: Contribution to journalArticle

778 Scopus citations

Dextromethorphan to dextrorphan urinary metabolic ratio does not reflect dextromethorphan oral clearance

Borges, S., Li, L., Hamman, M. A., Jones, D. R., Hall, S. D. & Christopher Gorski, J., Jul 1 2005, In : Drug Metabolism and Disposition. 33, 7, p. 1052-1055 4 p.

Research output: Contribution to journalArticle

31 Scopus citations