PMC Links for GEO Profiles (Select 96903182) - PMC

Select item 94022401.

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome

Marialetizia Motta, Maja Solman, Adeline A Bonnard, Alma Kuechler, Francesca Pantaleoni, Manuela Priolo, Balasubramanian Chandramouli, Simona Coppola, Simone Pizzi, Erika Zara, Marco Ferilli, Hülya Kayserili, Roberta Onesimo, Chiara Leoni, Julia Brinkmann, Yoann Vial, Susanne B Kamphausen, Cécile Thomas-Teinturier, Anne Guimier, Viviana Cordeddu, Laura Mazzanti, Giuseppe Zampino, Giovanni Chillemi, Martin Zenker, Hélène Cavé, Jeroen den Hertog, Marco Tartaglia

Hum Mol Genet. 2022 Aug 15; 31(16): 2766–2778. Published online 2022 Mar 26. doi: 10.1093/hmg/ddac071

PMCID:: PMC9402240

Abstract Article PDF–1.2M

Select item 83654182.

Study of the pathology and the underlying molecular mechanism of tissue injury around hematoma following intracerebral hemorrhage

Jinglei Wang, Ying Chen, Jingjing Liang, Maosheng Cao, Jiabing Shen, Kaifu Ke

Mol Med Rep. 2021 Oct; 24(4): 702. Published online 2021 Aug 5. doi: 10.3892/mmr.2021.12341

PMCID:: PMC8365418

Abstract Article PDF–3.0M

Select item 45873273.

Sequential Elution Interactome Analysis of the Mind Bomb 1 Ubiquitin Ligase Reveals a Novel Role in Dendritic Spine Outgrowth

Joseph Mertz, Haiyan Tan, Vishwajeeth Pagala, Bing Bai, Ping-Chung Chen, Yuxin Li, Ji-Hoon Cho, Timothy Shaw, Xusheng Wang, Junmin Peng

Mol Cell Proteomics. 2015 Jul; 14(7): 1898–1910. Published online 2015 Apr 30. doi: 10.1074/mcp.M114.045898

PMCID:: PMC4587327

Abstract Article PDF–2.6M

Select item 42677314.

Shoc2/Sur8 Protein Regulates Neurite Outgrowth

Gonzalo Leon, Lucia Sanchez-Ruiloba, Andrea Perez-Rodriguez, Teresa Gragera, Natalia Martinez, Silvia Hernandez, Berta Anta, Olga Calero, Carlota A. Garcia-Dominguez, Lara M. Dura, Daniel Peña-Jimenez, Judit Castro, Natasha Zarich, Pilar Sanchez-Gomez, Miguel Calero, Teresa Iglesias, Jose L. Oliva, Jose M. Rojas

PLoS One. 2014; 9(12): e114837. Published online 2014 Dec 16. doi: 10.1371/journal.pone.0114837

PMCID:: PMC4267731

Abstract Article PDF–1.1M

Select item 42132655.

A novel SHOC2 variant in Rasopathy

Vickie Hannig, Myoungkun Jeoung, Eun Ryoung Jang, John A. Phillips, III, Emilia Galperin

Hum Mutat. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Hum Mutat. 2014 Nov; 35(11): 1290–1294. Published online 2014 Sep 11. doi: 10.1002/humu.22634

PMCID:: PMC4213265

Abstract Article PDF–950K

Select item 37879956.

Expanding the SHOC2 Mutation Associated Phenotype of Noonan Syndrome with Loose Anagen Hair: Structural Brain Anomalies and Myelofibrosis

Karen W. Gripp, Dina J. Zand, Laurie Demmer, Carol E. Anderson, William B. Dobyns, Elaine H. Zackai, Elizabeth Denenberg, Kim Jenny, Deborah L. Stabley, Katia Sol-Church

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

Published in final edited form as: Am J Med Genet A. 2013 Oct; 161(10): 2420–2430. Published online 2013 Aug 5. doi: 10.1002/ajmg.a.36098

PMCID:: PMC3787995

Abstract Article PDF–2.9M

Select item 31780597.

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

Abstract Article PDF–1.0M

Select item 27654658.

Mutation in SHOC2 promotes aberrant protein N-myristoylation and underlies Noonan-like syndrome with loose anagen hair

Viviana Cordeddu, Elia Di Schiavi, Len A. Pennacchio, Avi Ma'ayan, Anna Sarkozy, Valentina Fodale, Serena Cecchetti, Alessio Cardinale, Joel Martin, Wendy Schackwitz, Anna Lipzen, Giuseppe Zampino, Laura Mazzanti, Maria C. Digilio, Simone Martinelli, Elisabetta Flex, Francesca Lepri, Deborah Bartholdi, Kerstin Kutsche, Giovanni B. Ferrero, Cecilia Anichini, Angelo Selicorni, Cesare Rossi, Romano Tenconi, Martin Zenker, Daniela Merlo, Bruno Dallapiccola, Ravi Iyengar, Paolo Bazzicalupo, Bruce D. Gelb, Marco Tartaglia

Nat Genet. Author manuscript; available in PMC 2010 Mar 1.

Published in final edited form as: Nat Genet. 2009 Sep; 41(9): 1022–1026. Published online 2009 Aug 16. doi: 10.1038/ng.425

PMCID:: PMC2765465

Abstract Article PDF–2.1M

Select item 1392419.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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