Malformation syndromes caused by disorders of cholesterol synthesis

Por Porter, Forbes D., Herman, Gail E.
Publicado em 2011

Family-Based Clinical Associations and Functional Characterization of the Serotonin 2A Receptor Gene (HTR2A) in Autism Spectrum Disorder

Por Smith, Ryan M., Banks, Wesley, Hansen, Emily, Sadee, Wolfgang, Herman, Gail E.
Publicado em 2014

Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos

Por Cunningham, David, Talabere, Tiffany, Bir, Natalie, Kennedy, Matthew, McBride, Kim L., Herman, Gail E.
Publicado em 2010

Developmental Expression Pattern of the Cholesterogenic Enzyme NSDHL and Negative Selection of NSDHL-deficient Cells in the Heterozygous Bpa(1H)/+ Mouse

Por Cunningham, David, Spychala, Kaitlyn, McLarren, Keith W., Garza, Luis A., Boerkoel, Cornelius F., Herman, Gail E.
Publicado em 2009

Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development

Por Cunningham, David, DeBarber, Andrea E., Bir, Natalie, Binkley, Laura, Merkens, Louise S., Steiner, Robert D., Herman, Gail E.
Publicado no Hum Mol Genet (2015)

CHINESE HAMSTER OVARY CELL-DERIVED RECOMBINANT HUMAN ACID α-GLUCOSIDASE IN INFANTILE-ONSET POMPE DISEASE

Por Kishnani, Priya Sunil, Nicolino, Marc, Voit, Thomas, Rogers, R. Curtis, Tsai, Anne Chun-Hui, Waterson, John, Herman, Gail E., Amalfitano, Andreas, Thurberg, Beth L., Richards, Susan, Davison, Mark, Corzo, Deyanira, Chen, YT
Publicado em 2006

Endogenous sterol metabolites regulate growth of EGFR/KRAS-dependent tumors via LXR

Por Gabitova, Linara, Restifo, Diana, Gorin, Andrey, Manocha, Kunal, Handorf, Elizabeth, Yang, Dong-Hua, Cai, Kathy Q., Klein-Szanto, Andres J., Cunningham, David, Kratz, Lisa E., Herman, Gail E., Golemis, Erica A., Astsaturov, Igor
Publicado no Cell Rep (2015)

Contactin 4 as an Autism Susceptibility Locus

Por Cottrell, Catherine E., Bir, Natalie, Varga, Elizabeth, Alvarez, Carlos E., Bouyain, Samuel, Zernzach, Randall, LambThrush, Devon, Evans, Johnna, Trimarchi, Michael, Butter, Eric M., Cunningham, David, Gastier-Foster, Julie M., McBride, Kim, Herman, Gail E.
Publicado em 2011

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination

Por Shehata, Laila, Simeonov, Dimitre R., Raams, Anja, Wolfe, Lynne, Vanderver, Adeline, Li, Xueli, Huang, Yan, Garner, Shannon, Boerkoel, Cornelius F., Thurm, Audrey, Herman, Gail E., Tifft, Cynthia J., He, Miao, Jaspers, Nicolaas G.J., Gahl, William A.
Publicado em 2014

Phenotypic Analysis of Individuals With Costello Syndrome due to HRAS p.G13C

Por Gripp, Karen W., Hopkins, Elizabeth, Sol-Church, Katia, Stabley, Deborah L., Axelrad, Marni E., Doyle, Daniel, Dobyns, William B., Hudson, Cindy, Johnson, John, Tenconi, Romano, Graham, Gail E., Sousa, Ana Berta, Heller, Raoul, Piccione, Maria, Corsello, Giovanni, Herman, Gail E., Tartaglia, Marco, Lin, Angela E.
Publicado em 2011

Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGFR inhibitors via increased EGFR degradation

Por Sukhanova, Anna, Gorin, Andrey, Serebriiskii, Ilya G., Gabitova, Linara, Zheng, Hui, Restifo, Diana, Egleston, Brian L., Cunningham, David, Bagnyukova, Tetyana, Liu, Hanqing, Nikonova, Anna, Adams, Gregory P., Zhou, Yan, Yang, Dong-Hua, Mehra, Ranee, Burtness, Barbara, Cai, Kathy Q., Klein-Szanto, Andres, Kratz, Lisa E., Kelley, Richard I., Weiner, Louis M., Herman, Gail E., Golemis, Erica A., Astsaturov, Igor
Publicado em 2012

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

Por McLarren, Keith W., Severson, Tesa M., du Souich, Christèle, Stockton, David W., Kratz, Lisa E., Cunningham, David, Hendson, Glenda, Morin, Ryan D., Wu, Diane, Paul, Jessica E., An, Jianghong, Nelson, Tanya N., Chou, Athena, DeBarber, Andrea E., Merkens, Louise S., Michaud, Jacques L., Waters, Paula J., Yin, Jingyi, McGillivray, Barbara, Demos, Michelle, Rouleau, Guy A., Grzeschik, Karl-Heinz, Smith, Raffaella, Tarpey, Patrick S., Shears, Debbie, Schwartz, Charles E., Gecz, Jozef, Stratton, Michael R., Arbour, Laura, Hurlburt, Jane, Van Allen, Margot I., Herman, Gail E., Zhao, Yongjun, Moore, Richard, Kelley, Richard I., Jones, Steven J.M., Steiner, Robert D., Raymond, F. Lucy, Marra, Marco A., Boerkoel, Cornelius F.
Publicado em 2010