PMC Links for GEO Profiles (Select 104009729) - PMC

Select item 72068501.

Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease

Dimuthu Alankarage, Justin O Szot, Nick Pachter, Anne Slavotinek, Licia Selleri, Joseph T Shieh, David Winlaw, Eleni Giannoulatou, Gavin Chapman, Sally L Dunwoodie

Hum Mol Genet. 2020 May 8; 29(7): 1068–1082. Published online 2019 Oct 18. doi: 10.1093/hmg/ddz231

PMCID:: PMC7206850

Abstract Article PDF–1.5M

Select item 64550342.

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

Anne Slavotinek, Maurizio Risolino, Marta Losa, Megan T Cho, Kristin G Monaghan, Dina Schneidman-Duhovny, Sarah Parisotto, Johanna C Herkert, Alexander P A Stegmann, Kathryn Miller, Natasha Shur, Jacqueline Chui, Eric Muller, Suzanne DeBrosse, Justin O Szot, Gavin Chapman, Nicholas S Pachter, David S Winlaw, Bryce A Mendelsohn, Joline Dalton, Kyriakie Sarafoglou, Peter I Karachunski, Jane M Lewis, Helio Pedro, Sally L Dunwoodie, Licia Selleri, Joseph Shieh

Hum Mol Genet. 2017 Dec 15; 26(24): 4849–4860. Published online 2017 Sep 22. doi: 10.1093/hmg/ddx363

PMCID:: PMC6455034

Abstract Article PDF–587K

Select item 57799533.

Integrated microarray analysis provided novel insights to the pathogenesis of glaucoma

Jinhui Wang, Daofei Qu, Jinghong An, Guoming Yuan, Yufu Liu

Mol Med Rep. 2017 Dec; 16(6): 8735–8746. Published online 2017 Oct 4. doi: 10.3892/mmr.2017.7711

PMCID:: PMC5779953

Abstract Article PDF–3.0M

Select item 33565054.

Congenital Asplenia in Mice and Humans with Mutations in a Pbx/Nkx2-5/p15 Module

Matthew Koss, Alexandre Bolze, Andrea Brendolan, Matilde Saggese, Terence D. Capellini, Ekaterina Bojilova, Bertrand Boisson, Owen W.J. Prall, David Elliott, Mark Solloway, Elisa Lenti, Chisa Hidaka, Ching-Pin Chang, Nizar Mahlaoui, Richard P. Harvey, Jean-Laurent Casanova, Licia Selleri

Dev Cell. Author manuscript; available in PMC 2013 May 15.

Published in final edited form as: Dev Cell. 2012 May 15; 22(5): 913–926. Published online 2012 May 3. doi: 10.1016/j.devcel.2012.02.009

PMCID:: PMC3356505

Abstract Article PDF–6.8M

Select item 31780595.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 29357966.

Activin Regulation of the Follicle-Stimulating Hormone β-Subunit Gene Involves Smads and the TALE Homeodomain Proteins Pbx1 and Prep1

JANICE S. BAILEY, NAAMA RAVE-HAREL, SHAUNA M. McGILLIVRAY, DJURDJICA COSS, PAMELA L. MELLON

Mol Endocrinol. Author manuscript; available in PMC 2010 Sep 8.

Published in final edited form as: Mol Endocrinol. 2004 May; 18(5): 1158–1170. Published online 2004 Feb 5. doi: 10.1210/me.2003-0442

PMCID:: PMC2935796

Abstract Article PDF–1.0M

Select item 26330527.

Pbx/Meis Deficiencies Demonstrate Multigenetic Origins of Congenital Heart Disease

Kryn Stankunas, Ching Shang, Karen Y. Twu, Shih-Chu Kao, Nancy A. Jenkins, Neal G. Copeland, Mrinmoy Sanyal, Licia Selleri, Michael L. Cleary, Ching-Pin Chang

Circ Res. Author manuscript; available in PMC 2009 Sep 26.

Published in final edited form as: Circ Res. 2008 Sep 26; 103(7): 702–709. Published online 2008 Aug 21. doi: 10.1161/CIRCRESAHA.108.175489

PMCID:: PMC2633052

Abstract Article PDF–3.3M

Select item 25850848.

HOX cofactors expression and regulation in the human ovary

Takayo Ota, Haruka Asahina, Se-Hyung Park, Qing Huang, Takashi Minegishi, Nelly Auersperg, Peter CK Leung

Reprod Biol Endocrinol. 2008; 6: 49. Published online 2008 Oct 30. doi: 10.1186/1477-7827-6-49

PMCID:: PMC2585084

Abstract Article PDF–2.1M

Select item 15927719.

Hypomorphic Mutation of the TALE Gene Prep1 (pKnox1) Causes a Major Reduction of Pbx and Meis Proteins and a Pleiotropic Embryonic Phenotype

Elisabetta Ferretti, J. Carlos Villaescusa, Patrizia Di Rosa, Luis C. Fernandez-Diaz, Elena Longobardi, Roberta Mazzieri, Annarita Miccio, Nicola Micali, Licia Selleri, Giuliana Ferrari, Francesco Blasi

Mol Cell Biol. 2006 Aug; 26(15): 5650–5662. doi: 10.1128/MCB.00313-06