| SELECTED PUBLICATIONS |
| Cunningham, D., Talabere, T., Bir, N., Kennedy, M., McBride, K., Herman, G. Significant Contributions of the Extraembryonic Membranes and Maternal Genotype to Placental Pathology in Heterozygous Nsdhl Deficient Female Embryos. Hum Mol Genet.,19:364-73, 2010. PubMed ID: 19880419 |
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McBride KL, Zender GA, Fitzgerald-Butt SM, Koehler D, Menesses-Diaz A, Fernbach S, Lee K, Towbin JA, Leal S, Belmont JW. Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome). Eur J Hum Genet. 2009 Jan 14.
PubMed ID: 19142209 |
Wu YL, Yang Y, Chung EK, Zhou B, Kitzmiller KJ, Savelli SL, Nagaraja HN, Birmingham DJ, Tsao BP, Rovin BH, Hebert LA and Yu CY. Phenotypes, genotypes and disease susceptibility associated with gene copy number variations: complement C4 CNVs in European American healthy subjects and those with systemic lupus erythematosus. Cytogenet Genome Res 123 (2009, in press). |
Chen, W.K., Swartz, J.D., Rush, L.J., Alvarez, C.E. Mapping DNA structural variation in dogs. Genome Res. 2009 Mar; 19 (3) : 500-9. Epub 2008 Nov 17. PubMed ID: 19015322 |
Varga EA, Pastore M, Prior T, Herman GE, McBride KL. The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. Genet Med. 2009 Feb;11(2):111-7. PubMed ID: 19265751 |
Wu YL, Hauptmann G, Viguier M, YU CY. (2009) Molecular basis of complete complement C4 deficiency in two North-African families with systemic lupus erythematosus. Genes Immun. 10(5): 433-45 Epub 2009 Mar 12.
PubMed ID: 19279649 |
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Saxena K, Kitzmiller KJ, Wu YL, Zhou B, Esack N, Hiremath L, Chung EK, Yang Y, Yu CY. Great genotypic and phenotypic diversities associated with copy-number variations of complement C4 and RP-C4-CYP21-TCX (RCCX) modules: a comparison of Asian-Indian and European American populations. Mol Immunol (2009, Jan 8)
PubMed ID: 19135723 |
| Boles MK, Wilkinson BM, Maxwell A, Lai L, Mills AA, Nishijima I, Salinger AP, Moskowitz I, Hirschi KK, Liu B, Bradley A, Justice MJ. A mouse chromosome 4 balancer ENU-mutagenesis screen isolates eleven lethal lines BMC Genet 10:12, 2009. PubMed ID: 19267930 |
| Choi YH, Harding HD, Hartman DL, Obermiller AD, Kurosaka S, McLaughlin KJ, Hinrichs K. "The uterine environment modulates trophectodermal POU5F1 levels in equine blastocysts". Reproduction. 2009 Sep;138 (3): 589-99 PubMed ID: 19525365 |
| Cunningham, D., Spychala, K., McLarren, K.W., Garza, L.A., Boerkoel, C.F., Herman, G. E. Developmental Expression Pattern of the Cholesterogenic Enzyme NSDHL and Negative Selection of NSDHL-deficient Cells in the Heterozygous Bpa 1H/+ Mouse. Molec Genet Metab., 98: 356-366, 2009. PubMed ID: 19631568 |
| De Sousa PA, Gardner J, Sneddon S, Pells S, Tye BJ, Dand P, Collins DM, Stewart K, Shaw L, Przborski S, Cooke M, McLaughlin KJ, Kimber SJ, Lieberman BA, Wilmut I, Brison DR. "Clinically failed eggs as a source of normal human embryo stem cells". Stemm Cells Res. 2009 Feb 6 (epub) PubMed ID: 19393594 |
| Gisser JM, Blanchard SS, Parry RL, Redline RW, Chelimsky G. (2009) A Rare Cause of Upper Gastrointestinal Bleeding in Children: Gastric Schwannoma. Current Pediatric Reviews 5(1):52-5 |
| Hwang D, Givens B, Nishijima I. Ethanol-induced developmental neurodegeneration in secretin receptor-deficient mice. NeuroReport 20: 698-701, 2009. PubMed ID: 19349917 |
| Liu J, Carc=valho LP, Bhattachariya S, Carbone CJ, Kumar KG, Leu NA, Yau PM, Donald RG, Weiss MJ, Baker DP, McLaughlin KJ, Fuchs SY. "Mammalian casein kinase 1alpha and its leishmanial ortholog regulate stability of IFNAR1 and Type I interferon signaling". Mol Cell Biol. 2009 Oct 5 (Epub) PubMed ID: 19805514 |
| Pan J, Eckardt S, Leu NA, Buffone MG, Zhou J, Gerton GL, McLaughlin KJ, Wang PJ. "Inactivation of Nxf2 causes defects in male meiosis and age-dependent depletion of spermatogonia". Dev Biol. 2009 Jun 1;330(1):167-74 PubMed ID: 19345203 |
| Tykocki, N.R., Gariepy C.E., Watts, S.W. (2009) The complex roles of ETB receptors in mediating venous tone, e-published 3/18/2009 J Pharm and Exp Theraputics. |
| Varga, E.A., Pastore, M., Prior, T., Herman, G.E., McBride, K.L. The Prevalence of PTEN Mutations in a Clinical Pediatric Cohort with Autism Spectrum Disorders, Developmental Delay, and Macrocephaly. Genet. Med., 11:111-117, 2009. PubMed ID: 19265751 |
| Yang J, Chan CY, Jiang B, Yu X, Zhu G-Z, Chen Y, Barnard J, Mei W. hnRNP I inhibits Notch signaling and regulates intestinal epithelial homeostasis in the zebrafish. PLoS Genetics 5(2): e1000363. doi:10.1371/journal.pgen.1000363, 2009. PubMed ID: 19197356 |
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Dyke PC 2nd, Konczal L, Bartholomew D, McBride KL, Hoffman TM. Acute dilated cardiomyopathy in a patient with deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase. Pediatr Cardiol. 2009 May;30(4):523-6. Epub 2008 Dec 16.
PubMed ID: 19083141 |
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McBride KL, Riley MF, Zender GA, Fitzgerald-Butt SM, Towbin JA, Belmont JW, Cole SE. NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. Hum Mol Genet. 2008 Sep 15;17(18):2886-93. Epub 2008 Jun 30.
PubMed ID: 18593716 |
Cohen RA, Bayliss G, Crispin JC, Kane-Wanger GF, Van Beek CA, Kyttaris VC, Avalos I, Yu CY, Tsokos GC and Stillman IE. T cells and in situ cryoglobulin deposition in the pathogenesis of lupus nephritis. Clin Immunol 128:1-7, 2008. PubMed ID: 18565470 |
| Alvarez, C.E., On the origins of arrestin and rhodopsin. BMC Evol Biol. 8:222, 2008. PubMed ID: 18664266 |
| Dinger TC, Eckardt S, Choi SW, Camarero G, Kurosaka S, Hornich V, McLaughlin KJ, Muller AM. "Androgenetic embryonic stem cells form neural progenitor cells in vivo and in vitro". Stem Cells. 2008 Jun;26(6):1474-83 PubMed ID: 18369101 |
| Eckardt S, McLaughlin KJ. "Transplation of chimeric fetal liver to study hematopoiesis". Methods Mol Biol. 2008 430:195-211. PubMed ID: 18370301 |
| Eckardt S, Dinger TC, Kurosaka S, Leu NA, Muller AM, McLaughlin KJ. "In vivo and vitro differentiation of uniparental embryonic stem cells into hematopoietic and neural cell types". Organogenesis. 2008 Jan;4(1):33-41 PubMed ID: 19279713 |
| Makita T., Sucov H.M., Gariepy, C.E., Yanagisawa M., and Ginty, D.D. (2008) Endothelins are vasuclar-derived axonal guidance cues for developing sympathetic neurons. Nature 452:759-764. |
| Rai R, Wong CC, Xu T, Leu NA, Dong DW, Guo C, McLaughlin KJ, Yaes JR 3rd, Kashina A. "Arginyltransferase regulates alpha cardia actin function, myofibril formation and contractility during heart development". Development. 2008 Dec;135(23):3881-9 PubMed ID: 18948421 |
| Yang F, Eckardt S, Leu NA, McLaughlin KJ, Wang PJ. "Mouse TEX15 is essential for DNA double-strand break repair and chromosomal synapsis during male meiosis". J Cell Biol. 2008 Feb 25;180(4):673-9. PubMed ID: 18283110 |
| Yang F, Gell K, van der Heijden GW, Eckardt S, Leu NA, Page DC, Benavente R, Her C, Hoog C, McLaughlin KJ, Wang PJ. "Meiotic failure in male mice lacking an x-linked factor". Genes Dev. 2008 Mar 1;22(5):682-91 PubMed ID: 18316482 |
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Herman GE, Henninger N, Ratliff-Schaub K, Pastore M, Fitzgerald S, McBride KL. Genetic testing in autism: how much is enough?. Genet Med. 2007 May;9(5):268-74.
PubMed ID: 17505203 |
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Yang Y, Chung EK, Wu YL, Savelli SL, Nagaraja HN, Zhou B, Hebert M, Jones KN, Shu Y, Kitzmiller K, Blanchong CA, McBride KL, Higgins GC, Rennebohm RM, Rice RR, Hackshaw KV, Roubey RA, Grossman JM, Tsao BP, Birmingham DJ, Rovin BH, Hebert LA, Yu CY. Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans. Am J Hum Genet. 2007 Jun;80(6):1037-54. Epub 2007 Apr 26.
PubMed ID: 17503323 |
Wu H, Boackle SA, Hanvivadhanaku P, Ulgiati D, Grossman JM, Lee Y, Shen N, Abraham LJ, Mercer TR, Park E, Hebert LA, Rovin BH, Birmingham DJ, Chang D, Chen CJ, McCurdy D, Badsha HM, Thong BYH, Chng HH, Arnett FC, Wallace DJ, Yu CY, Hahn BH, Cantor RM, Tsao BP: Association of a common complement receptor 2 haplotype with increased risk of SLE. Proc Natl Acad Sci USA 104:3961-3966, 2007. PubMed ID: 17360460 |
Auer H, Newsom DL, Nowak NJ, McHugh KM, Singh S, Yu CY, Yang Y, Wenger GD, Gastier-Foster JM and Kornacker K: Gene-resolution analysis of DNA copy number variation using oligonucleotide expression microarrays. BMC Genomics 8:111, 2007. PubMed ID: 17470268 |
Wu YL , Savelli SL, Yang Y, Zhou B, Rovin B, Birmingham DJ, Nagaraja HN, Hebert LA and Yu CY. Sensitive and specific real-time PCR assays to accurately determine copy number variations (CNVs) of human complement C4A, C4B, C4-long, C4-short and RCCX modules: Elucidation of C4 CNVs in 50 consanguineous subjects with defined HLA genotypes. J Immunol 179: 3012-3025, 2007. PubMed ID: 17709516 |
Yang Y, Chung EK, Wu YL, Savelli S, Nagaraja HN, Zhou B, Hebert M, Jones KN, Shu Y, Kitzmiller K, Blanchong CA, McBride K, Higgins GC, Rennebohm RM, Rice RR, Hackshaw KV, Roubey RA, Grossman JM, Tsao BP, Birmingham DJ, Rovin BH, Hebert LA and Yu CY: Gene copy number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): Low copy number is a risk factor for, high copy number is a protective factor against, European American SLE disease susceptibility. Am J Hum Genet 80:1037-1054, 2007. PubMed ID: 17503323 |
| Allen CE, Richards J, Muthusamy N, Auer H, Liu Y, Robinson ML, Barnard JA, Wu L-C. Disruption of ZAS3 in Mice Alters NF-κ and AP-1 DNA binding and T-Cell Development. Gene Expression, 14: 83-100, 2007. PubMed ID: 18257392 |
| Herman, G.E., Henninger, N., Ratliff-Schaub, K., Pastore, M., Fitzgerald, S., and McBride, K. Genetic testing in autism: How much is enough? Genet. Med., 9:268-274, 2007. PubMed ID: 17505203 |
| Kelly, L.E., Nekkalapudi, S., and El-Hodiri, H.M. 2007. Expression of the forkhead transcription factor FoxN4 in progenitor cells in the developing Xenopus laevis retina and brain. Gene Expression Patterns. 7:233-238. |
| Martinez-De Luna, R.I., and El-Hodiri, H.M. 2007. The Xenopus ortholog of the nuclearhormone receptor Nr2e3 is primarily expressed in developing photoreceptors. Int. J. Dev. Biol. In press. |
| Yu CY, Hauptmann G, Yang Y, Wu YL, Birmingham DJ, Rovin BH and Hebert LA: Complement deficiencies in human systemic lupus erythematosus (SLE) and SLE nephritis: epidemiology and pathogenesis. In: Tsokos GC, Gordon C and Smolen JS (eds) Systemic Lupus Erythematosus: a Companion to Rheumatology. Philadelphia: Elsevier, pp183-193, 2007. |
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Rorick AM, et al. PP2A:B56 epsilon is required for eye induction and eye field separation. Dev Biol, 2006.
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Schwaderer AL, Bates CM, McHugh KM, McBride KL. Renal anomalies in family members of infants with bilateral renal agenesis/adysplasia. Pediatr Nephrol. 2007 Jan;22(1):52-6. Epub 2006 Sep 15.
PubMed ID: 16977473 |
| Jiang, F., and Herman, G. E. Analysis of Nsdhl Deficient Embryos Reveals a Role for Hedgehog Signaling in Early Placental Development. Hum. Molec. Genet., 15:3293-3305, 2006. PubMed ID: 17028112 |
| Kelly, L.E., Carrel, T.L., Herman, G.E., and El-Hodiri, H.M. 2006. Pbx1 and meis1 regulate activity of the Xenopus laevis zic3 promoter through a highly conserved region. Biochem. Biophys. Res. Commun. 344:1031 – 1037. |
| Nishijima I, Ohtoshi A. Characterization of a novel prospero-related homeobox gene, Prox2. Mol Genet Genomics. 275: 471-8, 2006. PubMed ID: 16470382 |
| Nishijima I, Yamagata T, Spencer CM, Weeber EJ, Alekseyenko O, Sweatt JD, Momoi MY, Ito M, Armstrong DL, Nelson DL, Paylor R, Bradley A. Secretin receptor-deficient mice exhibit impaired synaptic plasticity and social behavior. Hum Mol Genet. 15: 3241-50 PubMed ID: 17008357 |
| Ohtoshi A, Bradley A, Behringer RR, Nishijima I. Generation and maintenance of Dmbx1 gene-targeted mutant alleles. Mamm Genome 17: 744-750, 2006. PubMed ID: 16845469 |
| Pan, Y., Nekkalapudi, S, Kelly, L.E., and El-Hodiri, H.M. 2006. The Rx-like homeobox gene (Rx-L) is essential for normal photoreceptor development. Invest. Ophthalmol. Vis. Sci. 47:4245 - 4253. |
| Schwaderer AL, Bates CM, McHugh KM and McBride KL. Renal anomalies in family members of infants with bilateral renal agenesis/adysplasia. Pediatr Nephrol, 22(1):52-56, 2006. PubMed ID: 16977473 |
| Tsai, Y-H., Ohkita, M., and Gariepy, C.E. (2006) Chronic high-sodium diet increases aortic wall endothelin-1 expression in a blood pressure-independent fashion in rats. Exp Biol Med. 231:813. |
| Wilson, I.M., Davies, J.J., Weber, M., Brown, C.J. Alvarez, C.E., MacAulay, C., Schübeler, D. and Lam, W.L. Epigenomics: Mapping the Methylome. Cell Cycle 5:155-158, 2006. PubMed ID: 16397413 |
Rovin BH, Song H, Birmingham DJ, Hebert LA, Yu CY, and Nagaraja HN: Urine chemokines as biomarkers of human SLE activity. J Am Soc Nephrol 16: 467-473, 2005. PubMed ID: 15601744 |
Chung EK, Wu YL, Yang Y, Zhou B and Yu CY. Human complement components C4A and C4B: complex genotypes and phenotypes. Cur Protoc Immunol, Unit 13.8.1-13.8.36, 2005. PubMed ID: 18432942 |
| Caldas H, Cunningham D, Wang X, Jiang F, Humphries L, Kelley, RI and Herman GE. Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H steroid dehydrogenase-like (NSDHL) enzyme. Molec Genet Metab 84:48-60, 2005. PubMed ID: 15639195 |
| Cunningham D, Swartzlander D, Liyanarachchi S, Davuluri D and Herman GE Changes in Gene Expression Associated with Loss of Function of the NSDHL Sterol Dehydrogenase in Mouse Embryonic Fibroblasts. J. Lipid Res., 26:1150-1162, 2005. PubMed ID: 15805545 |
| Derom C, Jawaheer D, Chen WV, McBride KL, Xiao X, Amos C, Gregersen P, Vlietinck R. Genome-wide linkage scan for spontaneous dizygotic twinning. Eur J Hum Genet, 2005. PubMed ID: 16288310 |
| Du Jianguo, Jiang Bo, Barnard JA. Differential regulation of cyclooxygenase 2 in nontransformed and transformed intestinal epithelial cells. Neoplasia, Aug;7(8): 761-70, 2005. PubMed ID: 16207478 |
| El-Hodiri, H.M.+, Seufert, D.W., Nekkalapudi, S., Prescott, N.L., Kelly, L.E. and Jamrich, M. 2005. Xenopus laevis FoxE1 is primarily expressed in the developing pituitary and thyroid. Int. J. Dev. Biol. 49:881 - 884. |
| Kelly, L.E., Davy, B.E., Berbari, N., Robinson, M.L., and El-Hodiri, H.M 2005. A recombineered Xenopus tropicalis BAC expresses a GFP reporter under the control of Arx transcriptional regulatory elements in transgenic Xenopus laevis embryos. genesis. 41:185-191. |
| McBride KL, Pignatelli R, Lewin M, Ho T, Fernbach S, Menesses A, Lam W, Leal SM, Kaplan N, Schliekelman P, Towbin JA, Belmont JW. Inheritance anlaysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability. Am J Med Genet A, 2005. April 15:134(2): 180-186. PubMed ID: 15690347 |
| Ohkita, M., Wang, Y., Nguyen, N.D.T., Tsai, Y-H., Williams S.C., Killen P.D., Li, S., Yanagisawa, M., and Gariepy, C.E. (2005) Extrarenal ETB play a significant role in controlling cardiovascular responses to high dietary sodium in rats. Hypertension, 45:1-7. |
| Seufert DW, Prescott NL and El-Hodiri HM. Arx acts as both a transcriptional repressor and activator during vertebrate forebrain development. Dev. Dynamics 232:313-324, 2005. |
| Seufert, D.W., Hegde, R.S., Nekkalapudi, S., Kelly, L.E., and El-Hodiri, H.M. 2005. Expression of a novel Ski-like gene in Xenopus development. Gene Expression Patterns. 6:22 - 28. |
| Tsai, Y-H. and Gariepy, C.E., (2005) Dynamic changes in the proximal gut neural crest stem cell population are associated with successful development of the distal enteric nervous system in rats. Pediatric Res., 58:636-643. |
Yu CY, Whitacre CC: Sex, MHC and complement C4 in autoimmune diseases. Trends Immunol 25:694-699, 2004. PubMed ID: 15530841 |
Yang Y, Chung EK, Zhou B, Lhotta K, Hebert LA, Birmingham DJ, Rovin BH and Yu CY: The intricate role of complement C4 in human SLE. Curr Direct Autoimmun 7:98-132, 2004.
PubMed ID: 14719377 |
Yang Y, Lhotta K, Chung EK, Eder P, Neumair F and Yu CY: Complete complement components C4A and C4B deficiencies in human kidney diseases and systemic lupus erythematosus. J Immunol 173:2803-2814, 2004. PubMed ID: 15294999 |
| Adams DJ, Biggs PJ, Cox T, Davies R, van der Weyden L, Jonkers J, Smith J, Plumb B, Taylor R, Nishijima I, Yu Y, Rogers J and Bradley A. Mutagenic insertion and chromosome engineering resource (MICER). Nat Genet 36: 867-71, 2004. |
| Bailey, T.J., El-Hodiri, H., Zhang, L., Shah, R., Mathers, P.H., and Jamrich, M. (2004). Regulation of vertebrate eye development by Rx genes. In: "Eye development", Special Issue of Int. J. Dev. Biol., Grainger, R. and Piatigorsky, J. (Eds.) 48: 761-770. |
| Chung YJ, Jonkers J, Kitson H, Fiegler H, Humphray S, Scott C, Hunt S, Yu, Nishijima I, Velds A, Holstege H, Cartner N and Bradley A. A whole-genome mouse BAC microarray with 1-Mb resolution for analysis of DNA copy number changes by array comparative genomic hybridization. Genome Res 14: 188-96, 2004. |
| Du J, Jiang B, Coffey RJ and Barnard JA. RAF-1 and RhoA cooperate to transform intestinal epithelial cells and induce growth resistance to transforming growth factor beta. Mol Cancer Res 2:233-241, 2004. PubMed ID: 15140945 |
| McBride KL, Lewin M, Pignatelli R, Fernbach S, Combes A, Menesses A, Lam W, Bezold L, Kaplan N, Towbin JA, Belmont JW. Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions. Pediatrics. 2004 Sep; 114(3):691-6. PubMed ID: 15342840 |
| Murphy SJ, Dore JJ, Edens M, Coffey RF, Barnard JA, Mitchell H, Wilkes M, and Leof EB. Differential trafficking of TGFb receptors and ligand in polarized epithelial cells. Mol Bio Cell 15:2852-2862, 2004. PubMed ID: 15075369 |
| Tseng, H.T., Brownell, I., Hashimoto, R., El-Hodiri, H., Medina-Martinez, O., Shah, R., Zilinski, C., and Jamrich, M. (2004). Role of Fox genes during Xenopus embryogenesis. In: "The Vertebrate Organizer". H. Grunz (Ed.), Springer Verlag, pp. 41-54. |
Yu CY, Chung EK, Yang Y, Blanchong CA, Jacobsen N, Saxena K, Yang Z, Miller W, Varga L and Fust G: Dancing with complement C4 and the RP-C4-CYP21-TNX (RCCX) modules of the major histocompatibility complex. Progr Nucl Acid Res Mol Biol 75:217-292, 2003. PubMed ID: 14604014 |
Yang Y, Chung EK, Zhou B, Blanchong CA, Yu CY, Füst G, Kovács M, Vatay A, Szalai C, Karádi I and Varga L: Diversity in intrinsic strengths of the human complement system: serum C4 protein concentrations correlate with C4 gene size and polygenic variations, hemolytic activities and body mass index. J Immunol 171:2734-2745, 2003. PubMed ID: 12928427 |
| Barnard JA. Growth factors and gastrointestinal cancer. Gastrointestinal cancers (Rustgi AK, and Crawford J, eds.) Harcourt W.B. Saunders, 2003. |
| Caldas H and Herman GE. NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets. Hum Molec Genet 12:2981-2991, 2003. PubMed ID: 14506130 |
| El-Hodiri HM, Qi XL and Seufert DW. The Xenopus arx gene is expressed in the developing rostral forebrain. Dev Genes Evol 212:608-612, 2003. |
| Gabbeta V, Trzyna W, Phiel C, McHugh KM. Vesical Associated Protein A is Differentially Expressed During Intestinal Smooth Muscle Cell Differentiation. Developmental Dynamics, 228:11-20, 2003. PubMed ID: 12950075 |
| Gabetta V, Trzyna WT, Phiel CJ and McHugh KM. Vesicle-Associated Protein-A is Differentially Expressed During Intestinal Smooth Muscle Cell Differentiation, Developmental Dynamics 228:11-20, 2003 PubMed ID: 12950075 |
| Herman GE. Disorders of cholesterol biosynthesis: Prototypic metabolic malformation syndromes. Hum Molec Genet 12:R75-R88, 2003. PubMed ID: 2668600 |
| Herman, G.E., and El-Hodiri, H.M. 2003. The role of Zic3 in vertebrate development. Cytogenetic and Genome Research. 99:229–235. |
| Jiang B, Zhang JS, Du J, Urrutia R and Barnard JA. Growth inhibitory signaling by TGFb is blocked in Ras-transformed intestinal epithelial cells at a post-receptor locus. Cellular Signalling 15:699-708, 2003. PubMed ID: 12742230 |
| Kruger, G.M., Mosher, J.T., Tsai, Y., Yeager, K.J., Iwashita, T., Gariepy, C.E. and Morrison, S.J. (2003) Temporally distinct requirements for endothelin receptor B in the generation and migration of gut neural crest stem cells. Neuron, 40: 917-929. |
| Nishijima I, Mills A, Qi Y, Mills M and Bradley A. Two new balancer chromosomes on mouse chromosome 4 facilitate functional annotation of human chromosome 1p. Genesis 36: 142-148, 2003. |
| Phiel CJ, Wilson CA, Lee VM-Y and Klein PS. GSK-3a Regulates Production of Alzheimer's Disease Amyloid-b Peptides, Nature 423:435-439, 2003. PubMed ID: 12761548 |
| Yang J, Wu J, Tan C and Klein PS. PP2A:B56e is required for Wnt/ß-catenin signaling during embryonic development. Development 130: 5569-5578, 2003. |
| Zhang F, Phiel CJ, Spece L, Gurvich N and Klein PS. Inhibitory phosphorylation of glycogen synthase kinase-3 (GSK-3) in response to lithium: Evidence for autoregulation of GSK-3, Journal of Biological Chemistry, 278:33067-33077, 2003. PubMed ID: 12796505 |
| Zhang L, El-Hodiri HM, Ma HF, Zhang X, Servetnick M, Wensel TG and Jamrich M. Targeted expression of the dominant negative FGFR-4a in the eye using Xrx regulatory sequences interferes with normal retinal cell differentiation. Development 130:4177-4186, 2003. |
Chung EK, Yang Y, Rennebohm RM, Lokki ML, Higgins GC, Jones KN, Zhou B, Blanchong CA and Yu CY: Genetic sophistication of human complement C4A and C4B and RP-C4-CYP21-TNX (RCCX) modules in the major histocompatibility complex (MHC). Am J Hum Genet 71:823-837, 2002. PubMed ID: 12226794 |
| Alvarez, C. E., and Sutcliffe, J.G. Hypocretin is an Early Member of the Incretin Gene Family. Neurosci Lett 324:169-72, 2002. PubMed ID: 12009515 |
| Alvarez, C.E., Sutcliffe, J.G., and Thomas, E.A. Novel Isoform of Insulin Receptor Substrate p53/p58 is Generated by Alternative Splicing in the CRIB/SH3-binding Region, J Biol Chem 277:2478-34, 2002. PubMed ID: 12006592 |
| Gisser JM, Fields MC, Pick N, Moses AE, Srugo I. (2002) Invasive group a streptococcus associated with an intrauterine device and oral sex. Sexually Transmitted Disease 29(8):483-5 |
| Herman GE, Kelley RI, Pureza V, Smith D, Kopacz K, Pitt J, Sutphen R, Sheffield LJ and Metzenberg AB. Characterizations of mutations in twenty-two females with X-linked dominant chondrodysplasia punctata (Happle Syndrome). Genetics in Medicine 4:434-438, 2002. |
| Ivy, D.D., Yanagisawa, M., Gariepy, C.E., Gebb, S.A., Colvin, K.L., McMurtry, I.F. (2002) Exaggerated hypoxic pulmonary hypertension in endothelin B receptor-deficient rats. Am J Physiol Lung Cell Mol Physiol. 282(4):L703-L712. |
| Otoshi A, Nishijima I, Justice MJ and Behringer RR. Dmbx1, a novel evolutionarily conserved paired-like homeobox gene expressed in the brain of mouse embryos. Mech Devel 110: 241-244, 2002. |
| Yang J, Tan C, Darken RS, Wilson PA and Klein PS. ß-catenin/Tcf regulated transcription prior to the midblastula transition. Development 129: 5743-5752, 2002. |
| Yasuda Y, Kaneko A, Nishijima I, Miyatake S and Arai K. Interleukin-7 inhibits pre-T-cell differentiation induced by the pre-T-cell receptor signal and the effect is mimicked by hGM-CSF in hGM-CSF receptor transgenic mice. Immunology 106: 212-221, 2002 |
| Barnard JA. Epidermal growth factor receptor blockade: an emerging therapeutic modality in clinical gastroenterology. Gastroenterology 120:1872-1874, 2001. PubMed ID: 11375969 |
| Hisakawa H, Sugiyama D, Nishijima I, Xu MJ, Wu H, Nakao K, Watanabe S, Katsuki M, Asano S, Arai K, Nakahata T and Tsuji K. Human granulocyte-macrophage colony-stimulating factor (hGM-CSF) stimulates primitive and definitive erythropoiesis in mouse embryos expressing hGM-CSF receptors but not erythropoietin receptors. Blood 98: 3618-3625, 2001. |
| Phiel C, Gabbeta V, Parsons L, Rothblat D, Harvey R, and McHugh KM. Differential Binding of an SRF/NK-2/MEF2 Transcription Factor Complex in Normal Versus Neoplastic Smooth Muscle Tissues, Journal Biological Chemistry, 276, 34637-34650, 2001. PubMed ID: 11457859 |
| Phiel CJ and Klein, PS. Molecular Targets of Lithium Action, Annual Reviews in Pharmacology and Toxicology 41:789-813, 2001. PubMed ID: 11264477 |
| Phiel CJ, Gabbeta V, Parsons LM, Rothblat D, Harvey RP and McHugh KM. Differential binding of an SRF/NK-2 transcription factor complex in normal versus neoplatic smooth muscle tissues, Journal of Biological Chemistry 276:34637-34650, 2001. PubMed ID: 11457859 |
| Phiel CJ, Zhang F, Huang EY, Guenther MG, Lazar MA and Klein PS. Histone Deacetylase is a Direct Target of Valproic Acid, a Poetnt Anticonvulsant, Mood Stabilizer, and Teratogen, Journal of Biological Chemistry 276:36734-36741, 2001. PubMed ID: 11473107 |
| Thomas, E. A., Foye, P.E., Alvarez C. E., Usui, H., and Gregor Sutcliffe, J. Insulin Receptor Substrate Protein p53 Localization in Rats Suggests Mechanism for Specific Polyglutamine Neurodegeneration. Neurosci Lett 309:145-148, 2001. PubMed ID: 11514062 |
Yu CY, Yang Z, Blanchong CA and Miller W: The human and mouse MHC class III region: a parade of the centromeric segment with 21 genes. Immunol Today 21:320-328, 2000. PubMed ID: 10871871 |
Blanchong CA, Zhou B, Rupert KL, Chung EK, Jones KN, Sotos JF, Rennebohm RM and Yu CY: Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in Caucasians: the load of RCCX genetic diversity on MHC-associated disease. J Exp Med 191:2183-2196, 2000.
PubMed ID: 10859342 |
| Gariepy, C.E., Ohuchi, T., Williams, S.C., Richardson, J.A., Yanagisawa, M. (2000) Salt-sensitive hypertension in endothelin-B receptor-deficient rats. J Clin Invest. 105:925-933. |
| Bulus N, Peterson MS, Peeler MO, Sheng H-M, Sizemore N, Oldham SM, Barnett JV, Beauchamp RD and Barnard JA. Ras-mediated suppression of TGFbII expression in intestinal epithelial cells involves a raf-independent signaling pathway. Neoplasia 2:357-364, 2000. PubMed ID: 11005570 |
| Luo G, Santoro IM, McDaniel LD, Nishijima I, Mills M, Youssoufian H, Vogel H, Schultz RA and Bradley A. Cancer predisposition caused by elevated mitotic recombination in Bloom mice. Nat Genet 26: 424-429, 2000. |
| Thomas, E.A., Alvarez, C.E., and Sutcliffe, J.G. Evolutionarily Distinct Classes of S27 Ribosomal Proteins with Differential mRNA Expression in Rat Hypothalamus. J Neurochem 74:2259-2267, 2000. PubMed ID: 10820185 |
| Wang, W., Zhang, J., Alvarez C. E., Llopart, A., and Long, M. The Origin of Jinwei and Complex Modular Structure of its Parental Gene, Yellow Emperor, in Drosophila melanogaster. Mol Biol Evol 17:1294-1301, 2000. PubMed ID: 10958846 |
Yang Z, Mendoza AR, Welch TR, Zipf WB and Yu CY: Modular variations of HLA class III genes for serine/ threonine kinase RP, complement C4, steroid 21-hydroxylase CYP21 and tenascin TNX (RCCX): a mechanism for gene deletions and disease associations. J Biol Chem 274:12147-12156, 1999. PubMed ID: 10207042 |
| Bulus N and Barnard JA. Heparin binding epidermal growth factor-like growth factor is a transforming growth factor regulated gene in intestinal epithelial cells. Biolchem Biophys Res Comm 264:808-812, 1999. PubMed ID: 10544013 |
| Derry JMJ, Gormally E, Means GD, Zhao W, Meindl A, Kelley RI, Boyd Y and Herman GE. Mutations in a D8-D7 sterol isomerase in the tattered (Td) mouse and X-linked dominant chondrodysplasia punctata (CDPX2). Nat Genet 22:286-290, 1999. |
| Liu XY, Dangel A, Kelley R, Zhao W, Denny P, Botcherby M, Cattanach B, Peters Hunsicker PR, J, Mallon AM, Strivens MA, Bate R, Miller W, Rhodes M, Brown SDM and Herman GE. The mouse bare patches and striated gene encodes a putative, novel 3ß-hydroxysteroid dehydrogenase. Nat Genet 22:182-187, 1999. |
Yang Z, Shen L, Dangel AW, Wu LC and Yu CY: Four ubiquitously expressed genes, RD-SKI2W-DOM3Z-RP1, are present between complement component genes factor B and C4 in the class III region of the HLA. Genomics 53: 338-347, 1998. PubMed ID: 9799600 |
Qu XD, Yang Z, Zhang S, Shen L, Dangel A., Redman KL, Hughes JH, Wu LC and Yu CY: The human HLA DEVH-box protein Ski2w is associated with polysomes and ribosomes. Nucleic Acids Res 26: 4068-4077, 1998. PubMed ID: 9705521 |
| Gariepy, C.E., Williams, S.C., Richardson, J.A., Hammer, R.E., Yanagisawa, M. (1998) Transgenic expression of the endothelin-B receptor prevents congenital intestinal aganglionosis in a rat model of Hirschsprung disease. J Clin Invest. 102(6):1092-101. |
| Brittingham J, Phiel C, Trzyna W, Gabbeta V, and McHugh KM. Identification of Distinct Molecular Phenotypes in Cultured Gastrointestinal Smooth Muscle Cells, Gastroenterology, 115: 605-617, 1998. PubMed ID: 9721158 |
| McCue P, McHugh M, and McHugh KM. Diagnosing Uterine Smooth Muscle Tumors: A Review. Invited Review, LabMedica International, 15: 12-16, 1998. |
| Brittingham J, Liaw D, Liddell R, McHugh M, McCue P, and McHugh KM. Comparative Analysis of Smooth Muscle Isoactin Gene Expression in a Variety of Normal and Neoplastic Tissues. Pathobiology, 65: 113-122, 1997. |
| Trzyna W, McHugh M, McCue P, and McHugh KM. Molecular Determination of the Malignant Potential of Smooth Muscle Neoplasms. Cancer, 80: 211-217, 1997. PubMed ID: 9217032 |
| Trzyna W, McHugh M, McCue P, and McHugh KM. Finally - A Clear Diagnostic Test that Shows if Uterine Smooth Muscle Tumors Are Benign or Malignant. Editors, Wilson K, Chisholm R, Albertinin D, Dasso M and Payne G. 1997 ASCB Annual Meeting Selected Biomedical Abstracts, American Society for Cell Biology 19, 1997. |
| Trzyna WC, Gabbeta V, McHugh KM. Isolation and characterization of a novel short chain alcohol dehydrogenase-like isozyme by differential display of distinct smooth muscle cell phenotypes. J Steroid Biochem Mol Biol, 63 (1-3):115-121, 1997. PubMed ID: 9449212 |
| Gariepy, C.E., Cass, D.T., and Yanagisawa M. (1996) Null mutation of endothelin-B receptor gene in spotting lethal rats causes aganglionic megacolon and white coat color. Proc Nat Acad Sci. USA 93:867-872. |
| Alvarez, C.E., Robison, K., and Gilbert, W. Novel DGq alpha Isoform is a Candidate Transducer of Rhodopsin Signaling in a Drosophila Testes-Autonomous Pacemaker. Proc Natl Acad Sci, USA 93:12278-12282, 1996. PubMed ID: 8901571 |
| McHugh KM. Molecular Analysis of Gastrointestinal Smooth Muscle Development: Invites Review. Journal Pediatric Gastroenterology and Nutrition, 23: 379-394, 1996. PubMed ID: 8956171 |
Dangel AW, Shen L, Mendoza AR, Wu, LC and Yu CY (1995) Human helicase gene SKI2W in the HLA class III region exhibits striking similarities to the yeast antiviral gene SKI2 and to the human gene KIAA0052: emergence of a new gene family. Nucleic Acids Res. 23:2120-2126. PubMed ID: 7610041 |
| McHugh KM. Molecular Analysis of Smooth Muscle Development in the Mouse. Developmental Dynamics. 204: 278-290, 1995. PubMed ID: 8573719 |
Dangel AW, Mendoza AR, Baker BJ, Daniel CM, Carroll MC, Wu LC and Yu CY: The dichotomous size variation of human complement C4 gene is mediated by a novel family of endogenous retroviruses which also establishes species-specific genomic patterns among Old World primates. Immunogenetics 40:425-436,1994. PubMed ID: 7545960 |
Shen L, Wu LC, Sanlioglu S, Chen R, Mendoza AR, Dangel AW, Carroll MC, Zipf WB and Yu CY: Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region: molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication. J Biol Chem 269:8466-8476, 1994. PubMed ID: 8132574 |
Yu CY: The complete exon-intron structure of a human complement component C4A gene: DNA sequences, polymorphism, and linkage to the 21-hydroxylase gene. J Immunol 146:1057-1066, 1991. PubMed ID: 1988494 |
| Silverman, D.H., Sayegh, M.H., Alvarez, C.E., Johnson, T.S., Milford, E.L., and Karnovsky, M.L. HLA Class II-Restricted Binding of Muramyl Peptides to B Lymphocytes of Normal and Narcoleptic Subjects. Hum Immunol 27:145-54, 1990. PubMed ID: 2341300 |
Yu CY and Milstein C: A physical map linking the five CD1 human thymocyte differentiation antigen genes. EMBO J. 8:3727-3732, 1989. PubMed ID: 2583117 |
| Thomsen, M., Alvarez, C.E., and Carpenter, C.B. Analysis of HLA Recombinant Families by Southern Blots. in Immunobiology of HLA, ed. Dupont, B. (Springer-Verlag, New York), Vol. 1, pp. 900-908, 1989. |
Yu CY, Campbell RD and Porter RR: A structural model for the location of the Rodgers and the Chido antigenic determinants and their correlation with the human complement C4A/C4B isotypes. Immunogenetics 27:399-405, 1988. PMID: 2453459 PubMed ID: 2453459 |
Yu CY, Belt KT, Giles CM, Campbell RD and Porter RR: Structural basis of the polymorphism of human complement component C4A and C4B: gene size, reactivity and antigenicity. EMBO J 5:2873-2881, 1986. PubMed ID: 2431902 |
| Belt KT, Yu CY, Carroll MC and Porter RR: Polymorphism of human complement component C4. Immunogenetics 21:173-180, 1985. PubMed ID: 3838531 |
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