Medical & Molecular Genetics

Publications

2006

The amino terminus of the human multidrug resistance transporter ABCC1 has a U-shaped folding with a gating function

Chen, Q., Yang, Y., Li, L. & Zhang, J. T., Oct 13 2006, In : Journal of Biological Chemistry. 281, 41, p. 31152-31163 12 p.

Research output: Contribution to journalArticle

19 Scopus citations

The C. elegans histone deacetylase HDA-1 is required for cell migration and axon pathfinding

Zinovyeva, A. Y., Graham, S. M., Cloud, V. J. & Forrester, W. C., Jan 1 2006, In : Developmental Biology. 289, 1, p. 229-242 14 p.

Research output: Contribution to journalArticle

10 Scopus citations

The genetics of alcoholism: Identifying specific genes through family studies

Edenberg, H. J. & Foroud, T., Sep 2006, In : Addiction Biology. 11, 3-4, p. 386-396 11 p.

Research output: Contribution to journalReview article

162 Scopus citations

The role of GABRA2 in risk for conduct disorder and alcohol and drug dependence across developmental stages

Dick, D. M., Bierut, L., Hinrichs, A., Fox, L., Bucholz, K. K., Kramer, J., Kuperman, S., Hesselbrock, V., Schuckit, M., Almasy, L., Tischfield, J., Porjesz, B., Begleiter, H., Nurnberger, J., Xuei, X., Edenberg, H. J. & Foroud, T., Jul 1 2006, In : Behavior Genetics. 36, 4, p. 577-590 14 p.

Research output: Contribution to journalArticle

172 Scopus citations

The role of mutant UDP-N-acetyl-α-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis

Garringer, H. J., Fisher, C., Larsson, T. E., Davis, S. I., Koller, D. L., Cullen, M. J., Draman, M. S., Conlon, N., Jain, A., Fedarko, N. S., Dasgupta, B. & White, K. E., Oct 2006, In : Journal of Clinical Endocrinology and Metabolism. 91, 10, p. 4037-4042 6 p.

Research output: Contribution to journalArticle

81 Scopus citations
123 Scopus citations

UNC-6/Netrin and SLT-1/Slit Guidance Cues Orient Axon Outgrowth Mediated by MIG-10/RIAM/Lamellipodin

Quinn, C. C., Pfeil, D. S., Chen, E., Stovall, E. L., Harden, M. V., Gavin, M. K., Forrester, W. C., Ryder, E. F., Soto, M. C. & Wadsworth, W. G., May 9 2006, In : Current Biology. 16, 9, p. 845-853 9 p.

Research output: Contribution to journalArticle

59 Scopus citations

Vitamin D and calcium receptors: Links to hypercalciuria

Bai, S. & Favus, M. J., Jul 2006, In : Current Opinion in Nephrology and Hypertension. 15, 4, p. 381-385 5 p.

Research output: Contribution to journalReview article

12 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

57 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

14 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 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

150 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

Artificial and engineered chromosomes: Developments and prospects for gene therapy

Grimes, B. R. & Monaco, Z. L., Sep 1 2005, In : Chromosoma. 114, 4, p. 230-241 12 p.

Research output: Contribution to journalReview article

35 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 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 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

100 Scopus citations

Aβ42 is essential for parenchymal and vascular amyloid deposition in mice

McGowan, E., Pickford, F., Kim, J., Onstead, L., Eriksen, J., Yu, C., Skipper, L., Murphy, M. P., Beard, J., Das, P., Jansen, K., DeLucia, M., Lin, W. L., Dolios, G., Wang, R., Eckman, C. B., Dickson, D. W., Hutton, M., Hardy, J. & Golde, T., Jul 21 2005, In : Neuron. 47, 2, p. 191-199 9 p.

Research output: Contribution to journalArticle

Open Access
418 Scopus citations
26 Scopus citations
15 Scopus citations

Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q

McQueen, M. B., Devlin, B., Faraone, S. V., Nimgaonkar, V. L., Sklar, P., Smoller, J. W., Jamra, R. A., Albus, M., Bacanu, S. A., Baron, M., Barrett, T. B., Berrettini, W., Blacker, D., Byerley, W., Cichon, S., Coryell, W., Craddock, N., Daly, M. J., DePaulo, J. R., Edenberg, H. J. & 33 others, Foroud, T., Gill, M., Gilliam, T. C., Hamshere, M., Jones, I., Jones, L., Juo, S. H., Kelsoe, J. R., Lambert, D., Lange, C., Lerer, B., Liu, J., Maier, W., MacKinnon, J. D., McInnis, M. G., McMahon, F. J., Murphy, D. L., Nöthen, M. M., Nurnberger, J. I., Pato, C. N., Pato, M. T., Potash, J. B., Propping, P., Pulver, A. E., Rice, J. P., Rietschel, M., Scheftner, W., Schumacher, J., Segurado, R., Van Steen, K., Xie, W., Zandi, P. P. & Laird, N. M., Oct 2005, In : American Journal of Human Genetics. 77, 4, p. 582-595 14 p.

Research output: Contribution to journalArticle

164 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

783 Scopus citations

CYP2D6 genotype and tamoxifen response

Rae, J. M., Goetz, M. P., Hayes, D. F., Ingle, J. N., Li, L., Storniolo, A. M., Stearns, V. & Flockhart, D. A., Jul 29 2005, In : Breast Cancer Research. 7, 5, E6.

Research output: Contribution to journalLetter

Open Access
14 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 2005, In : Drug Metabolism and Disposition. 33, 7, p. 1052-1055 4 p.

Research output: Contribution to journalArticle

32 Scopus citations

Discover true association rates in multi-protein complex proteomics data sets

Shen, C., Li, L. & Chen, J. Y., Dec 1 2005, Proceedings - 2005 IEEE Computational SystemsBioinformatics Conference, CSB 2005. p. 167-174 8 p. 1498018. (Proceedings - 2005 IEEE Computational Systems Bioinformatics Conference, CSB 2005; vol. 2005).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

1 Scopus citations

Diverse spatial, temporal, and sexual expression of recently duplicated androgen-binding protein genes in Mus musculus

Laukaitis, C. M., Dlouhy, S. R., Emes, R. D., Ponting, C. P. & Karn, R. C., Jul 14 2005, In : BMC Evolutionary Biology. 5

Research output: Contribution to journalArticle

25 Scopus citations

DNA damage-induced phosphorylation of the human telomere-associated protein TRF2

Tanaka, H., Mendonca, M. S., Bradshaw, P. S., Hoelz, D. J., Malkas, L. H., Meyn, M. S. & Gilley, D., Oct 25 2005, In : Proceedings of the National Academy of Sciences of the United States of America. 102, 43, p. 15539-15544 6 p.

Research output: Contribution to journalArticle

74 Scopus citations

Effect of cirrhosis and liver transplantation on the gender difference in QT interval

Adigun, A. Q., Pinto, A. G., Flockhart, D. A., Gorski, J. C., Li, L., Hall, S. D. & Chalasani, N., Mar 1 2005, In : American Journal of Cardiology. 95, 5, p. 691-694 4 p.

Research output: Contribution to journalArticle

24 Scopus citations

Epigenetic hypothesis tests for methylation and acetylation in a triple microarray system

Li, L., Shi, H., Yiannoutsos, C., Huang, T. H. M. & Nephew, K. P., 2005, In : Journal of Computational Biology. 12, 3, p. 370-390 21 p.

Research output: Contribution to journalArticle

19 Scopus citations

Evaluating current policy for detecting mosaicism in amniotic fluid cultures: Implications for current cell counting practices

Caudill, S. P., Van Dyke, D. L., Chen, A. T. L., Reidy, J. A., Ing, P. S., Schwartz, S. & Vance, G. H., Feb 28 2005, In : Statistics in Medicine. 24, 4, p. 615-622 8 p.

Research output: Contribution to journalArticle

1 Scopus citations

Evidence for inactivation of distinct telomerase repressor genes in different types of human cancers

Tanaka, H., Horikawa, I., Carl Barrett, J. & Oshimura, M., Jul 1 2005, In : International Journal of Cancer. 115, 4, p. 653-657 5 p.

Research output: Contribution to journalArticle

5 Scopus citations

Expression profiling and QTL analysis: A powerful complementary strategy in drug abuse research

Spence, J. P., Liang, T., Foroud, T., Lo, D. & Carr, L. G., Mar 2005, In : Addiction Biology. 10, 1, p. 47-51 5 p.

Research output: Contribution to journalArticle

15 Scopus citations

FGF23 and disorders of phosphate homeostasis

Yu, X. & White, K. E., Apr 2005, In : Cytokine and Growth Factor Reviews. 16, 2 SPEC. ISS., p. 221-232 12 p.

Research output: Contribution to journalArticle

92 Scopus citations

FGF23 mutants causing familial tumoral calcinosis are differentially processed

Larsson, T., Davis, S. I., Garringer, H. J., Mooney, S. D., Draman, M. S., Cullen, M. J. & White, K. E., Sep 2005, In : Endocrinology. 146, 9, p. 3883-3891 9 p.

Research output: Contribution to journalArticle

107 Scopus citations

Fibroblast growth factor 23 and its receptors

Yu, X. & White, K. E., Aug 2005, In : Therapeutic Apheresis and Dialysis. 9, 4, p. 308-312 5 p.

Research output: Contribution to journalArticle

22 Scopus citations

Generation of genetically-altered mice producing very low levels of coagulation factor VII

Rosen, E. D., Xu, H., Liang, Z., Martin, A. J., Suckow, M. & Castellino, F. J., Sep 2005, In : Thrombosis and Haemostasis. 94, 3, p. 493-497 5 p.

Research output: Contribution to journalArticle

34 Scopus citations

Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease

Gao, Q., Thurston, V. C., Vance, G. H., Dlouhy, S. R. & Hodes, M. E., Nov 1 2005, In : Clinical Genetics. 68, 5, p. 466-467 2 p.

Research output: Contribution to journalArticle

6 Scopus citations

Genetic dissection of phosphate- and vitamin D-mediated regulation of circulating Fgf23 concentrations

Yu, X., Sabbagh, Y., Davis, S. I., Demay, M. B. & White, K. E., Jun 1 2005, In : Bone. 36, 6, p. 971-977 7 p.

Research output: Contribution to journalArticle

118 Scopus citations

Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease

Nichols, W. C., Pankratz, N., Hernandez, D., Paisán-Ruíz, C., Jain, S., Halter, C. A., Michaels, V. E., Reed, T., Rudolph, A., Shults, C. W., Singleton, A. & Foroud, T., Jan 29 2005, In : Lancet. 365, 9457, p. 410-412 3 p.

Research output: Contribution to journalArticle

363 Scopus citations

Genome screen for bone mineral density phenotypes in Fisher 344 and Lewis rat strains

Koller, D. L., Alam, I., Sun, Q., Liu, L., Fishburn, T., Carr, L. G., Econs, M. J., Foroud, T. & Turner, C. H., Aug 2005, In : Mammalian Genome. 16, 8, p. 578-586 9 p.

Research output: Contribution to journalArticle

24 Scopus citations

High-level expression of maize γ-zein protein in transgenic soybean (Glycine max)

Li, Z., Meyer, S., Essig, J. S., Liu, Y., Schapaugh, M. A., Muthukrishnan, S., Hainline, B. E. & Trick, H. N., Aug 1 2005, In : Molecular Breeding. 16, 1, p. 11-20 10 p.

Research output: Contribution to journalArticle

15 Scopus citations

Identification of two critical amino acid residues of the severe acute respiratory syndrome coronavirus spike protein for its variation in zoonotic tropism transition via a double substitution strategy

Qu, X. X., Hao, P., Song, X. J., Jiang, S. M., Liu, Y. X., Wang, P. G., Rao, X., Song, H. D., Wang, S. Y., Zuo, Y., Zheng, A. H., Luo, M., Wang, H. L., Deng, F., Wang, H. Z., Hu, Z. H., Ding, M. X., Zhao, G. P. & Deng, H. K., Aug 19 2005, In : Journal of Biological Chemistry. 280, 33, p. 29588-29595 8 p.

Research output: Contribution to journalArticle

82 Scopus citations

Insulin-like growth factor-I protects granule neurons from apoptosis and improves ataxia in weaver mice

Zhong, J., Deng, J., Phan, J., Dlouhy, S., Wu, H., Yao, W., Ye, P., D'Ercole, A. J. & Lee, W. H., May 15 2005, In : Journal of Neuroscience Research. 80, 4, p. 481-490 10 p.

Research output: Contribution to journalArticle

37 Scopus citations

Johnson-McMillin syndrome: Report of a new case with novel features

Cushman, L. J., Torres-Martinez, W. & Weaver, D. D., Sep 1 2005, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 73, 9, p. 638-641 4 p.

Research output: Contribution to journalArticle

6 Scopus citations

Large cell carcinoma of the lung mimicking a germ cell tumor: The potential value of chromosome analysis

Ahmed, S. M., Cramer, H., Ulbright, T. M., Vance, G. H. & Hanna, N., Aug 1 2005, In : Lung Cancer. 49, 2, p. 271-274 4 p.

Research output: Contribution to journalArticle