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Items: 1 to 20 of 25

1.
Frem1 activity is regulated by Sonic Hedgehog signaling in the cranial neural crest mesenchyme during midfacial morphogenesis
Matthew T. McLaughlin, Miranda R. Sun, Tyler G. Beames, Austin C. Steward, Joshua W. M. Theisen, Hannah M. Chung, Joshua L. Everson, Ivan P. Moskowitz, Michael D. Sheets, Robert J. Lipinski
Dev Dyn. Author manuscript; available in PMC 2024 Apr 1.
Published in final edited form as: Dev Dyn. 2023 Apr; 252(4): 483–494. Published online 2022 Dec 19. doi: 10.1002/dvdy.555
PMCID:
PMC10066825
AbstractArticlePDF–1.2M
2.
Lhx2 is a direct NF-κB target gene that promotes primary hair follicle placode down-growth
Philip Tomann, Ralf Paus, Sarah E. Millar, Claus Scheidereit, Ruth Schmidt-Ullrich
Development. 2016 May 1; 143(9): 1512–1522. Published online 2016 May 3. doi: 10.1242/dev.130898
PMCID:
PMC6514410
AbstractArticle
3.
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia
Valerie K Jordan, Tyler F Beck, Andres Hernandez-Garcia, Peter N Kundert, Bum-Jun Kim, Shalini N Jhangiani, Tomasz Gambin, Molly Starkovich, Jaya Punetha, Ingrid S Paine, Jennifer E Posey, Alexander H Li, Donna Muzny, Chih-Wei Hsu, Amber J Lashua, Xin Sun, Caraciolo J Fernandes, Mary E Dickinson, Kevin P Lally, Richard A Gibbs, Eric Boerwinkle, James R Lupski, Daryl A Scott
Hum Mol Genet. 2018 Jun 15; 27(12): 2064–2075. Published online 2018 Mar 28. doi: 10.1093/hmg/ddy110
PMCID:
PMC5985720
AbstractArticlePDF–810K
4.
PDGFRβ regulates craniofacial development through homodimers and functional heterodimers with PDGFRα
Katherine A. Fantauzzo, Philippe Soriano
Genes Dev. 2016 Nov 1; 30(21): 2443–2458. doi: 10.1101/gad.288746.116
PMCID:
PMC5131783
AbstractArticlePDF–2.5M
5.
Quantitative trait loci affecting the 3D skull shape and size in mouse and prioritization of candidate genes in-silico
A. Murat Maga, Nicolas Navarro, Michael L. Cunningham, Timothy C. Cox
Front Physiol. 2015; 6: 92. Published online 2015 Mar 26. doi: 10.3389/fphys.2015.00092
PMCID:
PMC4374467
AbstractArticlePDF–2.2M
6.
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1
Anne M Slavotinek, Sergio E Baranzini, Denny Schanze, Cassandre Labelle-Dumais, Kieran M Short, Ryan Chao, Mani Yahyavi, Emilia K Bijlsma, Catherine Chu, Stacey Musone, Ashleigh Wheatley, Pui-Yan Kwok, Sandra Marles, Jean-Pierre Fryns, A Murat Maga, Mohamed G Hassan, Douglas B Gould, Lohith Madireddy, Chumei Li, Timothy C Cox, Ian Smyth, Albert E Chudley, Martin Zenker
J Med Genet. Author manuscript; available in PMC 2015 Jan 15.
Published in final edited form as: J Med Genet. 2011 Jun; 48(6): 375–382. Published online 2011 Apr 20. doi: 10.1136/jmg.2011.089631
PMCID:
PMC4294942
AbstractArticlePDF–1.3M
7.
Regulation of PDGFC signalling and extracellular matrix composition by FREM1 in mice
Fenny Wiradjaja, Denny L. Cottle, Lynelle Jones, Ian Smyth
Dis Model Mech. 2013 Nov; 6(6): 1426–1433. Published online 2013 Aug 15. doi: 10.1242/dmm.013748
PMCID:
PMC3820265
AbstractArticle
8.
Novel Frem1-Related Mouse Phenotypes and Evidence of Genetic Interactions with Gata4 and Slit3
Tyler F. Beck, Oleg A. Shchelochkov, Zhiyin Yu, Bum Jun Kim, Andrés Hernández-García, Hitisha P. Zaveri, Colin Bishop, Paul A. Overbeek, David W. Stockton, Monica J. Justice, Daryl A. Scott
PLoS One. 2013; 8(3): e58830. Published online 2013 Mar 11. doi: 10.1371/journal.pone.0058830
PMCID:
PMC3594180
AbstractArticlePDF–6.3M
9.
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice
Tyler F. Beck, Danielle Veenma, Oleg A. Shchelochkov, Zhiyin Yu, Bum Jun Kim, Hitisha P. Zaveri, Yolande van Bever, Sunju Choi, Hannie Douben, Terry K. Bertin, Pragna I. Patel, Brendan Lee, Dick Tibboel, Annelies de Klein, David W. Stockton, Monica J. Justice, Daryl A. Scott
Hum Mol Genet. 2013 Mar 1; 22(5): 1026–1038. Published online 2012 Dec 5. doi: 10.1093/hmg/dds507
Correction in:
Hum Mol Genet. 2020 Mar 15; 29(6): 1054.
PMCID:
PMC3561915
AbstractArticlePDF–1.0M
10.
Sprouty1 Haploinsufficiency Prevents Renal Agenesis in a Model of Fraser Syndrome
Jolanta E. Pitera, Adrian S. Woolf, M. Albert Basson, Peter J. Scambler
J Am Soc Nephrol. 2012 Nov; 23(11): 1790–1796. doi: 10.1681/ASN.2012020146
PMCID:
PMC3482732
AbstractArticle
11.
Basement membrane assembly of the integrin α8β1 ligand nephronectin requires Fraser syndrome–associated proteins
Daiji Kiyozumi, Makiko Takeichi, Itsuko Nakano, Yuya Sato, Tomohiko Fukuda, Kiyotoshi Sekiguchi
J Cell Biol. 2012 May 28; 197(5): 677–689. doi: 10.1083/jcb.201203065
PMCID:
PMC3365501
AbstractArticlePDF–2.9M
12.
The Matrisome: In Silico Definition and In Vivo Characterization by Proteomics of Normal and Tumor Extracellular Matrices
Alexandra Naba, Karl R. Clauser, Sebastian Hoersch, Hui Liu, Steven A. Carr, Richard O. Hynes
Mol Cell Proteomics. 2012 Apr; 11(4): M111.014647. Published online 2011 Dec 9. doi: 10.1074/mcp.M111.014647
PMCID:
PMC3322572
AbstractArticlePDF–7.3M
13.
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
AbstractArticlePDF–1.0M
14.
Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice
Lisenka E. L. M. Vissers, Timothy C. Cox, A. Murat Maga, Kieran M. Short, Fenny Wiradjaja, Irene M. Janssen, Fernanda Jehee, Debora Bertola, Jia Liu, Garima Yagnik, Kiyotoshi Sekiguchi, Daiji Kiyozumi, Hans van Bokhoven, Carlo Marcelis, Michael L. Cunningham, Peter J. Anderson, Simeon A. Boyadjiev, Maria Rita Passos-Bueno, Joris A. Veltman, Ian Smyth, Michael F. Buckley, Tony Roscioli
PLoS Genet. 2011 Sep; 7(9): e1002278. Published online 2011 Sep 8. doi: 10.1371/journal.pgen.1002278
PMCID:
PMC3169541
AbstractArticlePDF–2.2M
15.
A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo
Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A. Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N. Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A. Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R. Davidson, Pascal Dollé, Stylianos E. Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Richard A. Baldock, Gregor Eichele, Andrea Ballabio
PLoS Biol. 2011 Jan; 9(1): e1000582. Published online 2011 Jan 18. doi: 10.1371/journal.pbio.1000582
PMCID:
PMC3022534
AbstractArticlePDF–3.8M
16.
The planar cell polarity gene Vangl2 is required for mammalian kidney-branching morphogenesis and glomerular maturation
Laura L. Yates, Jenny Papakrivopoulou, David A. Long, Paraskevi Goggolidou, John O. Connolly, Adrian S. Woolf, Charlotte H. Dean
Hum Mol Genet. 2010 Dec 1; 19(23): 4663–4676. Published online 2010 Sep 14. doi: 10.1093/hmg/ddq397
PMCID:
PMC2972698
AbstractArticlePDF–838K
17.
TILRR, a Novel IL-1RI Co-receptor, Potentiates MyD88 Recruitment to Control Ras-dependent Amplification of NF-κB
Xiao Zhang, Freya Shephard, Hong B. Kim, Ian R. Palmer, Selina McHarg, Gregory J. S. Fowler, Luke A. J. O'Neill, Endre Kiss-Toth, Eva E. Qwarnstrom
J Biol Chem. 2010 Mar 5; 285(10): 7222–7232. Published online 2009 Nov 25. doi: 10.1074/jbc.M109.073429
Correction in:
J Biol Chem. 2010 Jun 4; 285(23): 18122.
PMCID:
PMC2844171
AbstractArticlePDF–2.8M
18.
FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome
Anas M. Alazami, Ranad Shaheen, Fatema Alzahrani, Katie Snape, Anand Saggar, Bernd Brinkmann, Prashant Bavi, Lihadh I. Al-Gazali, Fowzan S. Alkuraya
Am J Hum Genet. 2009 Sep 11; 85(3): 414–418. doi: 10.1016/j.ajhg.2009.08.010
Correction in:
Am J Hum Genet. 2009 Nov 13; 85(5): 756.
PMCID:
PMC2771533
AbstractArticlePDF–518K
19.
Transcriptome-based systematic identification of extracellular matrix proteins
Ri-ichiroh Manabe, Ko Tsutsui, Tomiko Yamada, Mina Kimura, Itsuko Nakano, Chisei Shimono, Noriko Sanzen, Yutaka Furutani, Tomohiko Fukuda, Yasuko Oguri, Keiko Shimamoto, Daiji Kiyozumi, Yuya Sato, Yoshikazu Sado, Haruki Senoo, Shohei Yamashina, Shiro Fukuda, Jun Kawai, Nobuo Sugiura, Koji Kimata, Yoshihide Hayashizaki, Kiyotoshi Sekiguchi
Proc Natl Acad Sci U S A. 2008 Sep 2; 105(35): 12849–12854. Published online 2008 Aug 29. doi: 10.1073/pnas.0803640105
PMCID:
PMC2529034
AbstractArticlePDF–1.1M
20.
Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects
Daiji Kiyozumi, Nagisa Sugimoto, Kiyotoshi Sekiguchi
Proc Natl Acad Sci U S A. 2006 Aug 8; 103(32): 11981–11986. Published online 2006 Jul 31. doi: 10.1073/pnas.0601011103
PMCID:
PMC1567684
AbstractArticlePDF–2.3M

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