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Select item 70416991.

A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness

Malak Alghamdi, Reem Al Khalifah, Doua K Al Homyani, Waleed H Alkhamis, Stefan T Arold, Aishah Ekhzaimy, Mohammed El-Wetidy, Tarek Kashour, Rabih Halwani

J Endocr Soc. 2020 Feb 1; 4(2): bvz028. Published online 2019 Nov 29. doi: 10.1210/jendso/bvz028

Correction in:: J Endocr Soc. 2020 Jun 1; 4(6): bvaa036.

PMCID:: PMC7041699

Abstract Article PDF–653K

Select item 52204942.

Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome

Jiaofeng Chen, Xue Zhang, Jie Li, Chenmeng Song, Yichang Jia, Wei Xiong

Neural Plast. 2016; 2016: 5836143. Published online 2016 Dec 26. doi: 10.1155/2016/5836143

PMCID:: PMC5220494

Abstract Article PDF–2.4M

Select item 43800743.

TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome

Shan Gao, Myriam Moreno, Steven Eliason, Huojun Cao, Xiao Li, Wenjie Yu, Felicitas B. Bidlack, Henry C. Margolis, Antonio Baldini, Brad A. Amendt

Hum Mol Genet. 2015 Apr 15; 24(8): 2330–2348. Published online 2015 Jan 2. doi: 10.1093/hmg/ddu750

PMCID:: PMC4380074

Abstract Article PDF–2.4M

Select item 41699614.

p53 suppression partially rescues the mutant phenotype in mouse models of DiGeorge syndrome

Cinzia Caprio, Antonio Baldini

Proc Natl Acad Sci U S A. 2014 Sep 16; 111(37): 13385–13390. Published online 2014 Sep 2. doi: 10.1073/pnas.1401923111

PMCID:: PMC4169961

Abstract Article PDF–1.2M

Select item 40142405.

Increased Tbx1 expression may play a role via TGFβ-Smad2/3 signaling pathway in acute kidney injury induced by gentamicin

Hongkun Jiang, Lei Li, Jesse Li-Ling, Guangrong Qiu, Zhibin Niu, Hong Jiang, Yunpeng Li, Yaoguo Huang, Kailai Sun

Int J Clin Exp Pathol. 2014; 7(4): 1595–1605. Published online 2014 Mar 15.

PMCID:: PMC4014240

Abstract Article PDF–1.5M

Select item 34421806.

MOZ Regulates the Tbx1 Locus, and Moz Mutation Partially Phenocopies DiGeorge Syndrome

Anne K. Voss, Hannah K. Vanyai, Caitlin Collin, Mathew P. Dixon, Tamara J. McLennan, Bilal N. Sheikh, Peter Scambler, Tim Thomas

Dev Cell. 2012 Sep 11; 23(3): 652–663. doi: 10.1016/j.devcel.2012.07.010

PMCID:: PMC3442180

Abstract Article

Select item 33348187.

Tbx1 Regulates Progenitor Cell Proliferation in the Dental Epithelium by Modulating PITX2 Activation of p21

Huojun Cao, Sergio Florez, Melanie Amen, Tuong Huynh, Ziedonis Skobe, Antonio Baldini, Brad A. Amendt

Dev Biol. Author manuscript; available in PMC 2012 Apr 24.

Published in final edited form as: Dev Biol. 2010 Nov 15; 347(2): 289–300. Published online 2010 Sep 15. doi: 10.1016/j.ydbio.2010.08.031

PMCID:: PMC3334818

Abstract Article PDF–8.6M

Select item 32590648.

Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus

Yue-Juan Xu, Jian Wang, Rang Xu, Peng-Jun Zhao, Xi-Ke Wang, Heng-Juan Sun, Li-Ming Bao, Jie Shen, Qi-Hua Fu, Fen Li, Kun Sun

BMC Med Genet. 2011; 12: 169. Published online 2011 Dec 21. doi: 10.1186/1471-2350-12-169

PMCID:: PMC3259064

Abstract Article PDF–609K

Select item 31780599.

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 306977710.

A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis

Chaoshe Guo, Ye Sun, Bin Zhou, Rosalyn M. Adam, XiaoKun Li, William T. Pu, Bernice E. Morrow, Anne Moon, Xue Li

J Clin Invest. 2011 Apr 1; 121(4): 1585–1595. Published online 2011 Mar 1. doi: 10.1172/JCI44630

Correction in:: J Clin Invest. 2011 May 2; 121(5): 2060.

PMCID:: PMC3069777

Abstract Article PDF–7.2M

Select item 301736511.

Ash2l interacts with Tbx1 and is required during early embryogenesis

Jason Z Stoller, Li Huang, Cheryl C Tan, Facan Huang, Diane D Zhou, Jifu Yang, Bruce D Gelb, Jonathan A Epstein

Exp Biol Med (Maywood) Author manuscript; available in PMC 2011 May 1.

Published in final edited form as: Exp Biol Med (Maywood). 2010 May; 235(5): 569–576. doi: 10.1258/ebm.2010.009318

PMCID:: PMC3017365

Abstract Article PDF–468K

Select item 298186212.

Partial Rescue of the Tbx1 mutant Heart Phenotype by Fgf8: genetic evidence of impaired tissue response to Fgf8

Francesca Vitelli, Gabriella Lania, Tuong Huynh, Antonio Baldini

J Mol Cell Cardiol. Author manuscript; available in PMC 2011 Nov 1.

Published in final edited form as: J Mol Cell Cardiol. 2010 Nov; 49(5): 836–840. Published online 2010 Aug 31. doi: 10.1016/j.yjmcc.2010.08.023

PMCID:: PMC2981862

Abstract Article PDF–747K

Select item 291779413.

Mesodermal Tbx1 is required for patterning the proximal mandible in mice

Vimla S. Aggarwal, Courtney Carpenter, Laina Freyer, Jun Liao, Marilena Petti, Bernice E. Morrow

Dev Biol. Author manuscript; available in PMC 2011 Aug 15.

Published in final edited form as: Dev Biol. 2010 Aug 15; 344(2): 669–681. Published online 2010 May 23. doi: 10.1016/j.ydbio.2010.05.496

PMCID:: PMC2917794

Abstract Article PDF–1.3M

Select item 288085614.

Enamel-free teeth: Tbx1 deletion affects amelogenesis in rodent incisors

Javier Catón, Hans-Ulrich Luder, Maria Zoupa, Matthew Bradman, Gilles Bluteau, Abigail S. Tucker, Ophir Klein, Thimios A. Mitsiadis

Dev Biol. Author manuscript; available in PMC 2010 Jun 4.

Published in final edited form as: Dev Biol. 2009 Apr 15; 328(2): 493–505. Published online 2009 Feb 20. doi: 10.1016/j.ydbio.2009.02.014

PMCID:: PMC2880856

Abstract Article PDF–7.0M

Select item 287778115.

Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome

Kelly Lammerts van Bueren, Irinna Papangeli, Francesca Rochais, Kerra Pearce, Catherine Roberts, Amelie Calmont, Dorota Szumska, Robert G. Kelly, Shoumo Bhattacharya, Peter J. Scambler

Dev Biol. 2010 Apr 15; 340(2): 369–380. doi: 10.1016/j.ydbio.2010.01.020

PMCID:: PMC2877781

Abstract Article

Select item 286730016.

Tbx1 regulates Vegfr3 and is required for lymphatic vessel development

Li Chen, Annalisa Mupo, Tuong Huynh, Sara Cioffi, Matthew Woods, Chengliu Jin, Wallace McKeehan, LuAnn Thompson-Snipes, Antonio Baldini, Elizabeth Illingworth

J Cell Biol. 2010 May 3; 189(3): 417–424. doi: 10.1083/jcb.200912037

PMCID:: PMC2867300

Abstract Article PDF–2.6M

Select item 279644417.

Tbx1 regulates proliferation and differentiation of multipotent heart progenitors

Li Chen, Filomena Gabriella Fulcoli, Susan Tang, Antonio Baldini

Circ Res. Author manuscript; available in PMC 2010 Oct 23.

Published in final edited form as: Circ Res. 2009 Oct 23; 105(9): 842–851. Published online 2009 Sep 10. doi: 10.1161/CIRCRESAHA.109.200295

PMCID:: PMC2796444

Abstract Article PDF–4.1M

Select item 276917218.

Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice

Victoria Randall, Karen McCue, Catherine Roberts, Vanessa Kyriakopoulou, Sarah Beddow, Angela N. Barrett, Francesca Vitelli, Katrina Prescott, Charles Shaw-Smith, Koen Devriendt, Erika Bosman, Georg Steffes, Karen P. Steel, Subreena Simrick, M. Albert Basson, Elizabeth Illingworth, Peter J. Scambler

J Clin Invest. 2009 Nov 2; 119(11): 3301–3310. Published online 2009 Oct 12. doi: 10.1172/JCI37561

PMCID:: PMC2769172

Abstract Article PDF–6.8M

Select item 273037119.

Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm

Amélie Calmont, Sarah Ivins, Kelly Lammerts Van Bueren, Irinna Papangeli, Vanessa Kyriakopoulou, William D. Andrews, James F. Martin, Anne M. Moon, Elizabeth A. Illingworth, M. Albert Basson, Peter J. Scambler

Development. 2009 Sep 15; 136(18): 3173–3183. Published online 2009 Aug 21. doi: 10.1242/dev.028902