PMC Articles for MedGen (Select 576313) - PMC

Juliana I. Sesma, Silvia M. Kreda, Seiko F. Okada, Catharina van Heusden, Lama Moussa, Lisa C. Jones, Wanda K. O'Neal, Natsuko Togawa, Miki Hiasa, Yoshinori Moriyama, Eduardo R. Lazarowski

Am J Physiol Cell Physiol. 2013 May 15; 304(10): C976–C984. Published online 2013 Mar 6. doi: 10.1152/ajpcell.00371.2012

Correction in:: Am J Physiol Cell Physiol. 2014 Feb 15; 306(4): C415.

PMCID:: PMC3651637

Abstract Article

Select item 35975177.

Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

Hannah Verdin, Barbara D'haene, Diane Beysen, Yana Novikova, Björn Menten, Tom Sante, Pablo Lapunzina, Julian Nevado, Claudia M. B. Carvalho, James R. Lupski, Elfride De Baere

PLoS Genet. 2013 Mar; 9(3): e1003358. Published online 2013 Mar 14. doi: 10.1371/journal.pgen.1003358

PMCID:: PMC3597517

Abstract Article PDF–1.2M

Select item 35817548.

Novel FREM1 Mutations Expand the Phenotypic Spectrum Associated with Manitoba-Oculo-Tricho-Anal (MOTA) Syndrome and Bifid Nose Renal Agenesis Anorectal Malformations (BNAR) Syndrome

Jared Nathanson, Daniel T. Swarr, Amihood Singer, Mochi Liu, Amy Chinn, Wendy Jones, Jane Hurst, Nahla Khalek, Elaine Zackai, Anne Slavotinek

Am J Med Genet A. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Am J Med Genet A. 2013 Mar; 161(3): 473–478. Published online 2013 Feb 8. doi: 10.1002/ajmg.a.35736

PMCID:: PMC3581754

Abstract Article PDF–530K

Select item 35444179.

ADAM17 Transactivates EGFR Signaling during Embryonic Eyelid Closure

Eryn L. Hassemer, Bradley Endres, Joseph A. Toonen, Adam Ronchetti, Richard Dubielzig, Duska J. Sidjanin

Invest Ophthalmol Vis Sci. 2013 Jan; 54(1): 132–140. Published online 2013 Jan 7. doi: 10.1167/iovs.12-11130

PMCID:: PMC3544417

Abstract Article PDF–911K

Select item 354286310.

p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome

Giustina Ferone, Maria Rosaria Mollo, Helen A. Thomason, Dario Antonini, Huiqing Zhou, Raffaele Ambrosio, Laura De Rosa, Domenico Salvatore, Spiro Getsios, Hans van Bokhoven, Jill Dixon, Caterina Missero

Hum Mol Genet. 2013 Feb 1; 22(3): 531–543. Published online 2012 Oct 29. doi: 10.1093/hmg/dds464

PMCID:: PMC3542863

Abstract Article PDF–571K

Select item 351198711.

Genomic Profiling of a Human Organotypic Model of AEC Syndrome Reveals ZNF750 as an Essential Downstream Target of Mutant TP63

Brian J. Zarnegar, Dan E. Webster, Vanessa Lopez-Pajares, Brook Vander Stoep Hunt, Kun Qu, Karen J. Yan, David R. Berk, George L. Sen, Paul A. Khavari

Am J Hum Genet. 2012 Sep 7; 91(3): 435–443. doi: 10.1016/j.ajhg.2012.07.007

PMCID:: PMC3511987

Abstract Article PDF–2.8M

Select item 349095912.

Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion

Doug A. Medvetz, Damir Khabibullin, Venkatesh Hariharan, Pat P. Ongusaha, Elena A. Goncharova, Tanja Schlechter, Thomas N. Darling, Ilse Hofmann, Vera P. Krymskaya, James K. Liao, Hayden Huang, Elizabeth P. Henske

PLoS One. 2012; 7(11): e47842. Published online 2012 Nov 6. doi: 10.1371/journal.pone.0047842

PMCID:: PMC3490959

Abstract Article PDF–989K

Select item 379528613.

Sphingosine 1-Phosphate Receptors Are Essential Mediators of Eyelid Closure during Embryonic Development

Deron R. Herr, Chang-Wook Lee, Wei Wang, Adam Ware, Richard Rivera, Jerold Chun

J Biol Chem. 2013 Oct 11; 288(41): 29882–29889. Published online 2013 Sep 3. doi: 10.1074/jbc.M113.510099

PMCID:: PMC3795286

Abstract Article PDF–2.6M

Select item 392513414.

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene

Gerarda Cappuccio, Alessandro Rossi, Paolo Fontana, Emma Acampora, Valeria Avolio, Giuseppe Merla, Leopoldo Zelante, Aurelio Secinaro, Generoso Andria, Daniela Melis

BMC Med Genet. 2014; 15: 15. Published online 2014 Jan 28. doi: 10.1186/1471-2350-15-15

PMCID:: PMC3925134

Abstract Article PDF–366K

Select item 346935215.

Waved with open eyelids 2 (woe2) is a novel spontaneous mouse mutation in the protein phosphatase 1, regulatory (inhibitor) subunit 13 like (Ppp1r13l) gene

Joseph Toonen, Lina Liang, Duska J Sidjanin

BMC Genet. 2012; 13: 76. Published online 2012 Aug 28. doi: 10.1186/1471-2156-13-76

PMCID:: PMC3469352

Abstract Article PDF–1.5M

Select item 337970016.

VAMP8 is a vesicle SNARE that regulates mucin secretion in airway goblet cells

Lisa C Jones, Lama Moussa, M Leslie Fulcher, Yunxiang Zhu, Elizabeth J Hudson, Wanda K O'Neal, Scott H Randell, Eduardo R Lazarowski, Richard C Boucher, Silvia M Kreda

J Physiol. 2012 Feb 1; 590(Pt 3): 545–562. Published online 2011 Dec 5. doi: 10.1113/jphysiol.2011.222091

PMCID:: PMC3379700

Abstract Article PDF–1.9M

Select item 394675017.

Effect of Dietary Zinc Oxide on Morphological Characteristics, Mucin Composition and Gene Expression in the Colon of Weaned Piglets

Ping Liu, Robert Pieper, Juliane Rieger, Wilfried Vahjen, Roger Davin, Johanna Plendl, Wilfried Meyer, Jürgen Zentek

PLoS One. 2014; 9(3): e91091. Published online 2014 Mar 7. doi: 10.1371/journal.pone.0091091

PMCID:: PMC3946750

Abstract Article PDF–3.0M

Select item 337684918.

Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome

Giustina Ferone, Helen A Thomason, Dario Antonini, Laura De Rosa, Bing Hu, Marica Gemei, Huiqing Zhou, Raffaele Ambrosio, David P Rice, Dario Acampora, Hans van Bokhoven, Luigi Del Vecchio, Maranke I Koster, Gianluca Tadini, Bradley Spencer-Dene, Michael Dixon, Jill Dixon, Caterina Missero

EMBO Mol Med. 2012 Mar; 4(3): 192–205. doi: 10.1002/emmm.201100199