PMC Links for Gene (Select 23384) - PMC

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Select item 99294771.

SPECC1L binds the myosin phosphatase complex MYPT1/PP1β and can regulate its distribution between microtubules and filamentous actin

Virja Mehta, Nathalie Decan, Sarah Ooi, Antoine Gaudreau-Lapierre, John W. Copeland, Laura Trinkle-Mulcahy

J Biol Chem. 2023 Feb; 299(2): 102893. Published online 2023 Jan 10. doi: 10.1016/j.jbc.2023.102893

PMCID:: PMC9929477

Abstract Article PDF–4.6M

Select item 88716572.

SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome

Chiara Migliore, Anna Vendramin, Shane McKee, Paolo Prontera, Francesca Faravelli, Rani Sachdev, Patricia Dias, Martina Mascaro, Danilo Licastro, Germana Meroni

Genes (Basel) 2022 Feb; 13(2): 252. Published online 2022 Jan 28. doi: 10.3390/genes13020252

PMCID:: PMC8871657

Abstract Article PDF–775K

Select item 79888373.

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome

K. Taylor Wild, Tia Gordon, Elizabeth J. Bhoj, Haowei Du, Shalini N. Jhangiani, Jennifer E. Posey, James R. Lupski, Daryl A. Scott, Elaine H. Zackai

Am J Med Genet A. Author manuscript; available in PMC 2021 Dec 1.

Published in final edited form as: Am J Med Genet A. 2020 Dec; 182(12): 2919–2925. Published online 2020 Sep 21. doi: 10.1002/ajmg.a.61878

PMCID:: PMC7988837

Abstract Article PDF–647K

Select item 43930154.

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 10505145.

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

Select item 104044736.

SPECC1L: a cytoskeletal protein that regulates embryonic tissue dynamics

Irfan Saadi, Jeremy Goering, Brittany M Hufft-Martinez, Pamela V Tran

Biochem Soc Trans. Author manuscript; available in PMC 2023 Aug 6.

Published in final edited form as: Biochem Soc Trans. 2023 Jun 28; 51(3): 949–958. doi: 10.1042/BST20220461

PMCID:: PMC10404473

Abstract Article PDF–1.2M

Select item 97060537.

BCL6-SPECC1L: A Novel Fusion Gene in Nasopharyngeal Carcinoma

Shuo-Gui Fang, Tian-Liang Xia, Jian-Chang Fu, Tong Li, Qian Zhong, Fei Han

Technol Cancer Res Treat. 2022; 21: 15330338221139981. Published online 2022 Nov 22. doi: 10.1177/15330338221139981

PMCID:: PMC9706053

Abstract Article PDF–2.0M

Select item 77844918.

Recurrent SPECC1L–NTRK fusions in pediatric sarcoma and brain tumors

Dong-Anh Khuong-Quang, Lauren M. Brown, Marie Wong, Chelsea Mayoh, Alexandra Sexton-Oates, Amit Kumar, Mark Pinese, Sumanth Nagabushan, Loretta Lau, Louise E. Ludlow, Andrew J. Gifford, Michael Rodriguez, Jayesh Desai, Stephen B. Fox, Michelle Haber, David S. Ziegler, Jordan R. Hansford, Glenn M. Marshall, Mark J. Cowley, Paul G. Ekert

Cold Spring Harb Mol Case Stud. 2020 Dec; 6(6): a005710. doi: 10.1101/mcs.a005710

PMCID:: PMC7784491

Abstract Article PDF–7.1M

Select item 32515779.

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 1121388210.

Changes in expression of VGF, SPECC1L, HLA-DRA and RANBP3L act with APOE E4 to alter risk for late onset Alzheimer’s disease

Sergio Branciamore, Grigoriy Gogoshin, Andrei S. Rodin, Amanda J. Myers

Sci Rep. 2024; 14: 14954. Published online 2024 Jun 28. doi: 10.1038/s41598-024-65010-7

PMCID:: PMC11213882

Abstract Article PDF–2.0M

Select item 710467211.

SPECC1L regulates palate development downstream of IRF6

Everett G Hall, Luke W Wenger, Nathan R Wilson, Sraavya S Undurty-Akella, Jennifer Standley, Eno-Abasi Augustine-Akpan, Youssef A Kousa, Diana S Acevedo, Jeremy P Goering, Lenore Pitstick, Nagato Natsume, Shahnawaz M Paroya, Tamara D Busch, Masaaki Ito, Akihiro Mori, Hideto Imura, Laura E Schultz-Rogers, Eric W Klee, Dusica Babovic-Vuksanovic, Sarah A Kroc, Wasiu L Adeyemo, Mekonen A Eshete, Bryan C Bjork, Satoshi Suzuki, Jeffrey C Murray, Brian C Schutte, Azeez Butali, Irfan Saadi

Hum Mol Genet. 2020 Mar 27; 29(5): 845–858. Published online 2020 Jan 29. doi: 10.1093/hmg/ddaa002

PMCID:: PMC7104672

Abstract Article PDF–2.0M

Select item 443008712.

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 313581313.

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 183896514.

The Krüppel-like zinc finger protein Glis2 functions as a negative modulator of the Wnt/β-catenin signaling pathway

Yong-Sik Kim, Hong Soon Kang, Anton M. Jetten

FEBS Lett. Author manuscript; available in PMC 2007 Mar 29.

Published in final edited form as: FEBS Lett. 2007 Mar 6; 581(5): 858–864. Published online 2007 Feb 2. doi: 10.1016/j.febslet.2007.01.058

PMCID:: PMC1838965

Abstract Article PDF–464K

Select item 652717215.

Dephosphorylation of the transcriptional cofactor NACA by the PP1A phosphatase enhances cJUN transcriptional activity and osteoblast differentiation

William N. Addison, Martin Pellicelli, René St-Arnaud

J Biol Chem. 2019 May 17; 294(20): 8184–8196. Published online 2019 Apr 4. doi: 10.1074/jbc.RA118.006920

PMCID:: PMC6527172

Abstract Article PDF–3.2M

Select item 472623116.

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