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Laboratory of Mammalian Genes and Development - Section on Genomic Imprinting
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Cunningham, MD, J Kassis, and K Pfeifer (2010) Chromatin modifiers, cognitive disorders, and imprinted genes. Dev Cell: 18: 169-70.

Gebert, C, D Kunkel, A Grinberg, and K Pfeifer (2010) H19 Imprinting Control Region methylation requires an imprinted environment only in the male germ line. Mol Cell Biol: 30: 1108-15.


Boini, KM, D Graf, AM Hennige, S Koka, DS Kempe, K Wang, TF Ackerman, M Foeller, V Vallon, K Pfeifer, E Schleicher, S Ullrich, H-U Haering, D Haeussinger, F Lang. Enhanced insulin sensitivity of gene targeted mice lacking functional KCNQ1. (2009) Amer J Physiol - Regulatory, Integrative, and Comparative Physisiology 296: R1695-701.

Steven N Ebert, Q Rong, S Boe, and K Pfeifer (2009)  Catecholamine synthesizing cells in the embryonic mouse heart. Annals NY Acad Sci1148: 317-24.

Wang, H, N Iguchi, Q Rong, M Zhou, M Ogunkorode, M Inoue, EA  Pribitkin, AA Bachmanov, RF Margolskee, K Pfeifer, L Huang (2009) Expression of the voltage-gated potassium channel KCNQ1 in mammalian taste bud cells and the effect of its null-mutation on taste preferences. J Comparative Neurology 512 384-98.


Jeong S, Hahn Y, Rong Q,Pfeifer K. (2007) Accurate quantitation of allele-specific expression patterns by analysis of DNA melting. Genome Res. 2007 Jul; 17(7):1093-100. pubmed|PDF

Knollmann BC, Sirenko S, Rong Q, Katchman AN, Casimiro M,Pfeifer K, Ebert SN. Kcnq1 contributes to an adrenergic-sensitive steady-state K(+) current in mouse heart. Biochem Biophys Res Commun. 2007 Aug 17; 360(1):212-8. PDF

Yoon YS, Jeong S, Rong Q, Park KY, Chung JH,Pfeifer K. Analysis of the H19ICR insulator. Mol Cell Biol. 2007 May; 27(9):3499-510. Epub 2007 Mar 5. PDF


Knollmann, BC, N Chopra, T Hlaing, B Akin, T Yang, K Ettensohn, BEC Knollmann, K D Horton, NJ Weissman, I Holinstat, W Zhang, DM Roden, LR Jones, C Franzini-Armstrong, andK Pfeifer (2006) Casq2deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia.  J Clinical Investigations, 116: 2510-2520. PDF


Vallon, V, F Grahammer, H Volkl, CD Sandu, K Richter, R Rexhepaj, U Gerlack, Q Rong, K Pfeifer, and F Lang (2005)  KCNQ1 dependent transport in renal and gastrointestinal epithelia. Proc Natl Acad Sci USA, 102: 17864-9*.* PDF


Ebert, SN, Q Rong, S Boe, RP Thompson, A Grinberg, andK Pfeifer (2004) Targeted insertion of the Cre-recombinase gene at the phenylethanolamine n-methyltransferase locus: a new model for studying the developmental distribution of adrenergic cells. Developmental Dynamics, 231: 849-858. PDF

Jeong, SY andK Pfeifer (2004) Shifting insulator boundaries. Nat Genet 36: 1036-1037. PDF

Casimiro, MC, BC Knollman, EN Yamoah, L Nie, JC Vary, SG Sirenko, AE Greene, A Grinberg, SP Huang, SN Ebert, andK Pfeifer (2004) Targeted point mutagenesis of mouse Kcnq1: Phenotypic analysis of mice with point mutations that cause Romano-Ward syndrome in humans. Genomics 84: 555-564. PDF

Knollman, BC, MC Casimiro, AN Katchman, SG Sirenko, T Schober, Q Rong,K Pfeifer, and SN Ebert(2004) Isoproterenol exacerbates a long QT phenotype in Kcnq1-deficient mice: Possible roles for human-like isoform 1 and IKS. J Pharmacol Exp Ther 310: 311-8. PDF

Park, KY, EA Sellars, A Grinberg, SP Huang, aandK Pfeifer (2004) The H19DMR marks the parental origin of a heterologous locus without gametic DNA methylation.  Mol Cell Biol 24: 3588-95. PDF

Pfeifer, K, SP Boe, Q Rong, and SN Ebert (2004) Generating mouse models for studying the function and fate of intrinsic cardiac adrenergic cells Annals NY Acad Sci 1018:418-23. PDF


Tosaka, T, MC Casimiro, Q Rong, S Tella, M Oh, AN Katchman, JC Pezzullo, K Pfeifer, and SN Ebert (2003) Nicotine induces a Long QT phenotype in Kcnq1-deficient mouse hearts. J Pharmacol Exp Ther 306: 980-7. PDF

Park, KY andK Pfeifer (2003) Epigenetic Interplay.  Nature Genet 34: 126-8. PDF

Srivastava M, E Frolova, B Rottinghaus, SP Boe, A Grinberg, E Lee, PE Love, and K Pfeifer (2003) Imprint control element mediated secondary methylation imprints at the Igf2/H19 locus.  JBC 278: 5977-83*.* PDF


Kaffer CR, A Grinberg, andK Pfeifer (2001) Regulatory mechanisms at the mouse Igf2/H19 locus.  Mol Cell Biol 21:8189-8196. PDF

Casimiro MC, B Knollman, S Ebert, JC Vary Jr., SP Huang, A Grinberg, and K Pfeifer (2001)  Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen syndrome.  Proc Natl Acad Sci USA 98: 2526-2531. PDF


Tong ZB, L Gold, KE Pfeifer, H Dorwand, E Lee, C Bondy, J Dean, and LM Nelson (2000) Mater, a maternal effect gene required for early embryonic development in mice. Nature Genet 26:267-268. PDF

Pfeifer K (2000) Mechanisms of genomic imprinting.  Am J Human Genetics 67:777-787. PDF

Kaffer CR, M Srivastava, KY Park, E Ives, S Hsieh, J Batlle, A Grinberg, SP Huang, andK Pfeifer  (2000) A transcriptional insulator at the H19/Igf2 locus.  Genes & Development 14: 1908-1919. PDF

Srivastava M, S Hsieh, A Grinberg, L Williams-Simon, SP Huang, and K Pfeifer (2000) H19 and Igf2 monoallelic gene expression is regulated in two distinct ways by a shared cis acting regulatory region upstream of H19. Genes and Development  14: 1186-1195. PDF


Redmond TM, S Yu, E Lee, D Bok, D Hamasaki, N Chen, P Goletz, JX Ma, RK Crouch, andK Pfeifer (1998) Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.  Nature Genetics 20:344-351. PDF


Gould TD andK Pfeifer (1998) Imprinting of mouse Kvlqt1 is developmentally regulated (1997).  Hum Mol Gen 7: 483-487. PDF


Pfeifer K, P Leighton, and SM Tilghman (1996) The structural H19 gene is required for its own imprinting. Proc.Natl Acad Sci USA 93: 13876-13873.  PDF