PMC Links for Protein (Select 1812589224) - PMC

Select item 47262311.

SPECC1L deficiency results in increased adherens junction stability and reduced cranial neural crest cell delamination

Nathan R. Wilson, Adam J. Olm-Shipman, Diana S. Acevedo, Kanagaraj Palaniyandi, Everett G. Hall, Edina Kosa, Kelly M. Stumpff, Guerin J. Smith, Lenore Pitstick, Eric C. Liao, Bryan C. Bjork, Andras Czirok, Irfan Saadi

Sci Rep. 2016; 6: 17735. Published online 2016 Jan 20. doi: 10.1038/srep17735

PMCID:: PMC4726231

Abstract Article PDF–2.7M

Select item 44300872.

Functional Analysis of SPECC1L in Craniofacial Development and Oblique Facial Cleft Pathogenesis

Lisa Gfrerer, Valeriy Shubinets, Tatiana Hoyos, Yawei Kong, Christina Nguyen, Peter Pietschmann, Cynthia C. Morton, Richard L. Maas, Eric C. Liao

Plast Reconstr Surg. Author manuscript; available in PMC 2015 May 13.

Published in final edited form as: Plast Reconstr Surg. 2014 Oct; 134(4): 748–759. doi: 10.1097/PRS.0000000000000517

PMCID:: PMC4430087

Abstract Article PDF–914K

Select item 43930153.

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

Paul Kruszka, Dong Li, Margaret H Harr, Nathan R Wilson, Daniel Swarr, Elizabeth M McCormick, Rosetta M Chiavacci, Mindy Li, Ariel F Martinez, Rachel A Hart, Donna M McDonald-McGinn, Matthew A Deardorff, Marni J Falk, Judith E Allanson, Cindy Hudson, John P Johnson, Irfan Saadi, Hakon Hakonarson, Maximilian Muenke, Elaine H Zackai

J Med Genet. Author manuscript; available in PMC 2015 Apr 10.

Published in final edited form as: J Med Genet. 2015 Feb; 52(2): 104–110. Published online 2014 Nov 20. doi: 10.1136/jmedgenet-2014-102677

PMCID:: PMC4393015

Abstract Article PDF–576K

Select item 32515774.

Evidence for Transcript Networks Composed of Chimeric RNAs in Human Cells

Sarah Djebali, Julien Lagarde, Philipp Kapranov, Vincent Lacroix, Christelle Borel, Jonathan M. Mudge, Cédric Howald, Sylvain Foissac, Catherine Ucla, Jacqueline Chrast, Paolo Ribeca, David Martin, Ryan R. Murray, Xinping Yang, Lila Ghamsari, Chenwei Lin, Ian Bell, Erica Dumais, Jorg Drenkow, Michael L. Tress, Josep Lluís Gelpí, Modesto Orozco, Alfonso Valencia, Nynke L. van Berkum, Bryan R. Lajoie, Marc Vidal, John Stamatoyannopoulos, Philippe Batut, Alex Dobin, Jennifer Harrow, Tim Hubbard, Job Dekker, Adam Frankish, Kourosh Salehi-Ashtiani, Alexandre Reymond, Stylianos E. Antonarakis, Roderic Guigó, Thomas R. Gingeras

PLoS One. 2012; 7(1): e28213. Published online 2012 Jan 4. doi: 10.1371/journal.pone.0028213

PMCID:: PMC3251577

Abstract Article PDF–1.7M

Select item 31358135.

Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting

Irfan Saadi, Fowzan S. Alkuraya, Stephen S. Gisselbrecht, Wolfram Goessling, Resy Cavallesco, Annick Turbe-Doan, Aline L. Petrin, James Harris, Ursela Siddiqui, Arthur W. Grix, Jr., Hanne D. Hove, Philippe Leboulch, Thomas W. Glover, Cynthia C. Morton, Antonio Richieri-Costa, Jeffrey C. Murray, Robert P. Erickson, Richard L. Maas

Am J Hum Genet. 2011 Jul 15; 89(1): 44–55. doi: 10.1016/j.ajhg.2011.05.023

PMCID:: PMC3135813

Abstract Article PDF–2.4M

Select item 10505146.

Translocation (1;22) in a child with bilateral oblique facial clefts.

M Dasouki, M Barr, Jr, R P Erickson, B Cox

J Med Genet. 1988 Jun; 25(6): 427–429. doi: 10.1136/jmg.25.6.427

PMCID:: PMC1050514

Summary Page Browse PDF–576K

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