The necessity for in vivo functional analysis in human medical genetics

по Quintana, Anita M.
Опубликовано в: Med Res Arch (2015)

The role of HCFC1 in syndromic and non-syndromic intellectual disability.

по Castro, Victoria L., Quintana, Anita M.
Опубликовано в: Med Res Arch (2020)

Functional analysis of the zebrafish ortholog of HMGCS1 reveals independent functions for cholesterol and isoprenoids in craniofacial development

по Quintana, Anita M., Hernandez, Jose A., Gonzalez, Cesar G.
Опубликовано в: PLoS One (2017)

Knockdown of hspg2 is associated with abnormal mandibular joint formation and neural crest cell dysfunction in zebrafish

по Castellanos, Barbara S., Reyes-Nava, Nayeli G., Quintana, Anita M.
Опубликовано в: BMC Dev Biol (2021)

Identification and Regulation of c-Myb Target Genes in MCF-7 Cells

по Quintana, Anita M, Liu, Fan, O'Rourke, John P, Ness, Scott A
Опубликовано 2011

Zebrafish etv7 regulates red blood cell development through the cholesterol synthesis pathway

по Quintana, Anita M., Picchione, Fabrizio, Klein Geltink, Ramon I., Taylor, Michael R., Grosveld, Gerard C.
Опубликовано 2014

Mutations in the zebrafish hmgcs1 gene reveal a novel function for isoprenoids during red blood cell development

по Hernandez, Jose A., Castro, Victoria L., Reyes-Nava, Nayeli, Montes, Laura P., Quintana, Anita M.
Опубликовано в: Blood Adv (2019)

Hcfc1a regulates neural precursor proliferation and asxl1 expression in the developing brain

по Castro, Victoria L., Reyes, Joel F., Reyes-Nava, Nayeli G., Paz, David, Quintana, Anita M.
Опубликовано в: BMC Neurosci (2020)

Dramatic Repositioning of c-Myb to Different Promoters during the Cell Cycle Observed by Combining Cell Sorting with Chromatin Immunoprecipitation

по Quintana, Anita M., Zhou, Ye E., Pena, Janeth J., O'Rourke, John P., Ness, Scott A.
Опубликовано 2011

Abnormal expression of GABA(A) receptor subunits and hypomotility upon loss of gabra1 in zebrafish

по Reyes-Nava, Nayeli G., Yu, Hung-Chun, Coughlin, Curtis R., Shaikh, Tamim H., Quintana, Anita M.
Опубликовано в: Biol Open (2020)

Activation of WNT signaling restores the facial deficits in a zebrafish with defects in cholesterol metabolism

по Castro, Victoria L., Reyes‐Nava, Nayeli G., Sanchez, Brianna B., Gonzalez, Cesar G., Paz, David, Quintana, Anita M.
Опубликовано в: Genesis (2020)

Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression

по Quintana, Anita M., Geiger, Elizabeth A., Achilly, Nate, Rosenblatt, David S., Maclean, Kenneth N., Stabler, Sally P., Artinger, Kristin B., Appel, Bruce, Shaikh, Tamim H.
Опубликовано в: Dev Biol (2014)

Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K

по Conley, Mary Ellen, Dobbs, A. Kerry, Quintana, Anita M., Bosompem, Amma, Wang, Yong-Dong, Coustan-Smith, Elaine, Smith, Amber M., Perez, Elena E., Murray, Peter J.
Опубликовано 2012

Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development

по Van Laarhoven, Peter M., Neitzel, Leif R., Quintana, Anita M, Geiger, Elizabeth A., Zackai, Elaine H., Clouthier, David E., Artinger, Kristin B., Ming, Jeffrey E., Shaikh, Tamim H.
Опубликовано в: Hum Mol Genet (2015)

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

по Quintana, Anita M., Yu, Hung-Chun, Brebner, Alison, Pupavac, Mihaela, Geiger, Elizabeth A., Watson, Abigail, Castro, Victoria L., Cheung, Warren, Chen, Shu-Huang, Watkins, David, Pastinen, Tomi, Skovby, Flemming, Appel, Bruce, Rosenblatt, David S., Shaikh, Tamim H.
Опубликовано в: Hum Mol Genet (2017)

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

по Yu, Hung-Chun, Sloan, Jennifer L., Scharer, Gunter, Brebner, Alison, Quintana, Anita M., Achilly, Nathan P., Manoli, Irini, Coughlin, Curtis R., Geiger, Elizabeth A., Schneck, Una, Watkins, David, Suormala, Terttu, Van Hove, Johan L.K., Fowler, Brian, Baumgartner, Matthias R., Rosenblatt, David S., Venditti, Charles P., Shaikh, Tamim H.
Опубликовано 2013