PMC Articles for MedGen (Select 1631694) - PMC

Thomas Edouard, Jean-Philippe Combier, Audrey Nédélec, Sophie Bel-Vialar, Mélanie Métrich, Francoise Conte-Auriol, Stanislas Lyonnet, Béatrice Parfait, Maithé Tauber, Jean-Pierre Salles, Frank Lezoualc'h, Armelle Yart, Patrick Raynal

Mol Cell Biol. 2010 May; 30(10): 2498–2507. Published online 2010 Mar 22. doi: 10.1128/MCB.00646-09

PMCID:: PMC2863708

Abstract Article PDF–1.5M

Select item 28850015.

Patient-specific induced pluripotent stem cell derived models of LEOPARD syndrome

Xonia Carvajal-Vergara, Ana Sevilla, Sunita L. D’Souza, Yen-Sin Ang, Christoph Schaniel, Dung-Fang Lee, Lei Yang, Aaron D. Kaplan, Eric D. Adler, Roye Rozov, YongChao Ge, Ninette Cohen, Lisa J. Edelmann, Betty Chang, Avinash Waghray, Jie Su, Sherly Pardo, Klaske D. Lichtenbelt, Marco Tartaglia, Bruce Gelb, Ihor R. Lemischka

Nature. Author manuscript; available in PMC 2010 Dec 10.

Published in final edited form as: Nature. 2010 Jun 10; 465(7299): 808–812. doi: 10.1038/nature09005

PMCID:: PMC2885001

Abstract Article PDF–868K

Select item 51123606.

Molecular screening strategies for NF1-like syndromes with café-au-lait macules

Jia Zhang, Ming Li, Zhirong Yao

Mol Med Rep. 2016 Nov; 14(5): 4023–4029. Published online 2016 Sep 22. doi: 10.3892/mmr.2016.5760

PMCID:: PMC5112360

Abstract Article PDF–760K

Select item 29009047.

Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes

Simone Martinelli, Paola Torreri, Michele Tinti, Lorenzo Stella, Gianfranco Bocchinfuso, Elisabetta Flex, Alessandro Grottesi, Marina Ceccarini, Antonio Palleschi, Gianni Cesareni, Luisa Castagnoli, Tamara C. Petrucci, Bruce D. Gelb, Marco Tartaglia

Hum Mol Genet. 2008 Jul 1; 17(13): 2018–2029. Published online 2008 Mar 27. doi: 10.1093/hmg/ddn099

PMCID:: PMC2900904

Abstract Article PDF–669K

Select item 30257978.

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway

Tjitske Kleefstra, Saskia B Wortmann, Richard J T Rodenburg, Ernie M H F Bongers, Kinga Hadzsiev, Cees Noordam, Lambert P van den Heuvel, Willy M Nillesen, Katalin Hollody, Gabrielle Gillessen-Kaesbach, Martin Lammens, Jan A M Smeitink, Ineke van der Burgt, Eva Morava

Eur J Hum Genet. 2011 Feb; 19(2): 138–144. Published online 2010 Nov 10. doi: 10.1038/ejhg.2010.171

PMCID:: PMC3025797

Abstract Article PDF–425K

Select item 45980619.

Rapidly Progressive Hypertrophic Cardiomyopathy in an Infant with Noonan syndrome with multiple Lentigines. Palliative Treatment with a Rapamycin Analog

Andreas Hahn, Jessica Lauriol, Josef Thul, Kachina Behnke-Hall, Tushiha Logeswaran, Anne Schänzer, Nuray Böğürcü, Boyan K. Garvalov, Martin Zenker, Bruce D. Gelb, Susanne von Gerlach, Reinhard Kandolf, Maria I. Kontaridis, Dietmar Schranz

Am J Med Genet A. Author manuscript; available in PMC 2015 Oct 8.

Published in final edited form as: Am J Med Genet A. 2015 Apr; 0(4): 744–751. Published online 2015 Feb 23. doi: 10.1002/ajmg.a.36982

PMCID:: PMC4598061

Abstract Article PDF–1.4M

Select item 303515410.

Phosphatase-dependent and -independent Functions of Shp2 in Neural Crest Cells Underlie LEOPARD Syndrome Pathogenesis

Rodney A. Stewart, Takaomi Sanda, Hans R. Widlund, Shizhen Zhu, Kenneth D. Swanson, Aeron D. Hurley, Mohamed Bentires-Alj, David E. Fisher, Maria I. Kontaridis, A. Thomas Look, Benjamin G. Neel

Dev Cell. Author manuscript; available in PMC 2011 May 18.

Published in final edited form as: Dev Cell. 2010 May 18; 18(5): 750–762. doi: 10.1016/j.devcel.2010.03.009

PMCID:: PMC3035154

Abstract Article PDF–4.2M

Select item 304937711.

Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome–associated PTPN11 mutation

Talita M. Marin, Kimberly Keith, Benjamin Davies, David A. Conner, Prajna Guha, Demetrios Kalaitzidis, Xue Wu, Jessica Lauriol, Bo Wang, Michael Bauer, Roderick Bronson, Kleber G. Franchini, Benjamin G. Neel, Maria I. Kontaridis

J Clin Invest. 2011 Mar 1; 121(3): 1026–1043. Published online 2011 Feb 21. doi: 10.1172/JCI44972

PMCID:: PMC3049377

Abstract Article PDF–5.0M

Select item 441508312.

High-purity enrichment of functional cardiovascular cells from human iPS cells

Bo Lin, Jong Kim, Yanxin Li, Haiying Pan, Xonia Carvajal-Vergara, Guy Salama, Tao Cheng, Yong Li, Cecilia W. Lo, Lei Yang

Cardiovasc Res. 2012 Aug 1; 95(3): 327–335. Published online 2012 Jun 6. doi: 10.1093/cvr/cvs185

PMCID:: PMC4415083

Abstract Article PDF–693K

Select item 440735613.

PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain

Marianna Spatola, Christian Wider, Thierry Kuntzer, Alexandre Croquelois

BMC Neurol. 2015; 15: 55. Published online 2015 Apr 16. doi: 10.1186/s12883-015-0310-8

PMCID:: PMC4407356

Abstract Article PDF–2.9M

Select item 533124214.

Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

Tzipora C Falik‐Zaccai, Yiftah Barsheshet, Hanna Mandel, Meital Segev, Avraham Lorber, Shachaf Gelberg, Limor Kalfon, Shani Ben Haroush, Adel Shalata, Liat Gelernter‐Yaniv, Sarah Chaim, Dorith Raviv Shay, Morad Khayat, Michal Werbner, Inbar Levi, Yishay Shoval, Galit Tal, Stavit Shalev, Eli Reuveni, Emily Avitan‐Hersh, Eugene Vlodavsky, Liat Appl‐Sarid, Dorit Goldsher, Reuven Bergman, Zvi Segal, Ora Bitterman‐Deutsch, Orly Avni

EMBO Mol Med. 2017 Mar; 9(3): 319–336. Published online 2017 Jan 9. doi: 10.15252/emmm.201606523

Correction in:: EMBO Mol Med. 2017 Sep; 9(9): 1326.

PMCID:: PMC5331242

Abstract Article PDF–2.8M

Select item 308618315.

Cancer in Noonan, Costello, Cardiofaciocutaneous and LEOPARD Syndromes

Christian P. Kratz, Suthee Rapisuwon, Helen Reed, Henrik Hasle, Philip S. Rosenberg

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2012 May 15.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2011 May 15; 157(2): 83–89. Published online 2011 Apr 15. doi: 10.1002/ajmg.c.30300

PMCID:: PMC3086183

Abstract Article PDF–228K

Select item 415365416.

Phosphoproteomics-Mediated Identification of Fer Kinase as a Target of Mutant Shp2 in Noonan and LEOPARD Syndrome

Jeroen Paardekooper Overman, Christian Preisinger, Karin Prummel, Monica Bonetti, Piero Giansanti, Albert Heck, Jeroen den Hertog

PLoS One. 2014; 9(9): e106682. Published online 2014 Sep 3. doi: 10.1371/journal.pone.0106682

PMCID:: PMC4153654

Abstract Article PDF–12M

Select item 413557217.

PZR Coordinates Shp2 Noonan and LEOPARD Syndrome Signaling in Zebrafish and Mice

Jeroen Paardekooper Overman, Jae-Sung Yi, Monica Bonetti, Matthew Soulsby, Christian Preisinger, Matthew P. Stokes, Li Hui, Jeffrey C. Silva, John Overvoorde, Piero Giansanti, Albert J. R. Heck, Maria I. Kontaridis, Jeroen den Hertog, Anton M. Bennett

Mol Cell Biol. 2014 Aug; 34(15): 2874–2889. doi: 10.1128/MCB.00135-14

PMCID:: PMC4135572

Abstract Article PDF–4.0M

Select item 408104918.

Molecular Basis of Gain-of-Function LEOPARD Syndrome-Associated SHP2 Mutations

Zhi-Hong Yu, Ruo-Yu Zhang, Chad D. Walls, Lan Chen, Sheng Zhang, Li Wu, Sijiu Liu, Zhong-Yin Zhang

Biochemistry. 2014 Jul 1; 53(25): 4136–4151. Published online 2014 Jun 8. doi: 10.1021/bi5002695

PMCID:: PMC4081049

Abstract Article PDF–3.1M

Select item 402813019.

Germline BRAF mutations in Noonan, LEOPARD and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

Anna Sarkozy, Claudio Carta, Sonia Moretti, Giuseppe Zampino, Maria C. Digilio, Francesca Pantaleoni, Anna Paola Scioletti, Giorgia Esposito, Viviana Cordeddu, Francesca Lepri, Valentina Petrangeli, Maria L. Dentici, Grazia M.S. Mancini, Angelo Selicorni, Cesare Rossi, Laura Mazzanti, Bruno Marino, Giovanni B. Ferrero, Margherita Cirillo Silengo, Luigi Memo, Franco Stanzial, Francesca Faravelli, Liborio Stuppia, Efisio Puxeddu, Bruce D. Gelb, Bruno Dallapiccola, Marco Tartaglia

Hum Mutat. Author manuscript; available in PMC 2014 May 20.

Published in final edited form as: Hum Mutat. 2009 Apr; 30(4): 695–702. doi: 10.1002/humu.20955

PMCID:: PMC4028130

Abstract Article PDF–523K

Select item 400759820.

Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11)

Wei Qiu, Xiaonan Wang, Vladimir Romanov, Ashley Hutchinson, Andrés Lin, Maxim Ruzanov, Kevin P Battaile, Emil F Pai, Benjamin G Neel, Nickolay Y Chirgadze

BMC Struct Biol. 2014; 14: 10. Published online 2014 Mar 14. doi: 10.1186/1472-6807-14-10

PMCID:: PMC4007598

Abstract Article PDF–1.8M

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