PMC Links for GEO Profiles (Select 132647795) - PMC

Select item 102984621.

Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy

Olga Shchagina, Mariya Orlova, Aisylu Murtazina, Alexandra Filatova, Mikhail Skoblov, Elena Dadali

Int J Mol Sci. 2023 Jun; 24(12): 9786. Published online 2023 Jun 6. doi: 10.3390/ijms24129786

PMCID:: PMC10298462

Abstract Article PDF–967K

Select item 58868232.

Charcot Marie Tooth Disease type 4C: Novel Mutations, Clinical Presentations, and Diagnostic Challenges

Nivedita U. Jerath, Ami Mankodi, Thomas O. Crawford, Christopher Grunseich, Hasna Baloui, Chioma Nnamdi-Emeratom, Alice B. Schindler, Terry Heiman-Patterson, Roman Chrast, Michael E. Shy

Muscle Nerve. Author manuscript; available in PMC 2019 May 1.

Published in final edited form as: Muscle Nerve. 2018 May; 57(5): 749–755. Published online 2017 Oct 24. doi: 10.1002/mus.25981

PMCID:: PMC5886823

Abstract Article PDF–347K

Select item 57768443.

Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth

Xin Zhao, Ming-Ming Jiang, Yi-Zhou Yan, Lei Liu, Yong-Zhi Xie, Xiao-Bo Li, Zheng-Mao Hu, Xiao-Hong Zi, Kun Xia, Bei-Sha Tang, Ru-Xu Zhang

Chin Med J (Engl) 2018 Jan 20; 131(2): 151–155. doi: 10.4103/0366-6999.222331

PMCID:: PMC5776844

Abstract Article PDF–674K

Select item 55929644.

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4)

Giuseppe Piscosquito, Paola Saveri, Stefania Magri, Claudia Ciano, Claudia Gandioli, Michela Morbin, Daniela D. Bella, Isabella Moroni, Franco Taroni F, Davide Pareyson

J Peripher Nerv Syst. Author manuscript; available in PMC 2017 Sep 11.

Published in final edited form as: J Peripher Nerv Syst. 2016 Sep; 21(3): 142–149. doi: 10.1111/jns.12175

PMCID:: PMC5592964

Abstract Article PDF–95K

Select item 41683065.

Haplotype-specific modulation of a SOX10/CREB response element at the Charcot–Marie–Tooth disease type 4C locus SH3TC2

Megan Hwa Brewer, Ki Hwan Ma, Gary W. Beecham, Chetna Gopinath, Frank Baas, Byung-Ok Choi, Mary M. Reilly, Michael E. Shy, Stephan Züchner, John Svaren, Anthony Antonellis, Chani Hodonsky, Richard Quarles, Kurt Fischbeck, Jim Lupski, Ken Inoue, Michael Wegner, Pavel Seeman, Kurt Fischbeck

Hum Mol Genet. 2014 Oct 1; 23(19): 5171–5187. Published online 2014 May 15. doi: 10.1093/hmg/ddu240

PMCID:: PMC4168306

Abstract Article PDF–1.2M

Select item 31780596.

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 28964647.

Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score

Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl

Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159

Correction in:: Mol Med. 2012; 18(1): 729.

PMCID:: PMC2896464

Abstract Article PDF–2.4M

Select item 28308268.

Mistargeting of SH3TC2 away from the recycling endosome causes Charcot–Marie–Tooth disease type 4C

Rhys C. Roberts, Andrew A. Peden, Folma Buss, Nicholas A. Bright, Morwena Latouche, Mary M. Reilly, John Kendrick-Jones, J. Paul Luzio

Hum Mol Genet. 2010 Mar 15; 19(6): 1009–1018. Published online 2009 Dec 22. doi: 10.1093/hmg/ddp565

PMCID:: PMC2830826

Abstract Article PDF–526K

Select item 17359699.

A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes

R Gooding, J Colomer, R King, D Angelicheva, L Marns, Y Parman, D Chandler, J Bertranpetit, L Kalaydjieva

J Med Genet. 2005 Dec; 42(12): e69. doi: 10.1136/jmg.2005.034132

PMCID:: PMC1735969

Summary PDF–529K

Select item 135612910.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406

PMCID:: PMC1356129

Abstract Article PDF–438K

Select item 118049011.

Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

Jan Senderek, Carsten Bergmann, Claudia Stendel, Jutta Kirfel, Nathalie Verpoorten, Peter De Jonghe, Vincent Timmerman, Roman Chrast, Mark H. G. Verheijen, Greg Lemke, Esra Battaloglu, Yesim Parman, Sevim Erdem, Ersin Tan, Haluk Topaloglu, Andreas Hahn, Wolfgang Müller-Felber, Nicolò Rizzuto, Gian Maria Fabrizi, Manfred Stuhrmann, Sabine Rudnik-Schöneborn, Stephan Züchner, J. Michael Schröder, Eckhard Buchheim, Volker Straub, Jörg Klepper, Kathrin Huehne, Bernd Rautenstrauss, Reinhard Büttner, Eva Nelis, Klaus Zerres

Am J Hum Genet. 2003 Nov; 73(5): 1106–1119. Published online 2003 Oct 21. doi: 10.1086/379525

PMCID:: PMC1180490

Abstract Article PDF–825K

Select item 52892812.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 52484213.

Large-scale cDNA transfection screening for genes related to cancer development and progression

Dafang Wan, Yi Gong, Wenxin Qin, Pingping Zhang, Jinjun Li, Lin Wei, Xiaomei Zhou, Hongnian Li, Xiaokun Qiu, Fei Zhong, Liping He, Jian Yu, Genfu Yao, Huiqiu Jiang, Lianfang Qian, Ye Yu, Huiqun Shu, Xianlian Chen, Huili Xu, Minglei Guo, Zhimei Pan, Yan Chen, Chao Ge, Shengli Yang, Jianren Gu

Proc Natl Acad Sci U S A. 2004 Nov 2; 101(44): 15724–15729. Published online 2004 Oct 21. doi: 10.1073/pnas.0404089101

Correction in:: Proc Natl Acad Sci U S A. 2004 Dec 14; 101(50): 17565.

PMCID:: PMC524842

Abstract Article PDF–245K

Select item 13924114.

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

Select item 9908115.

HUGE: a database for human large proteins identified in the Kazusa cDNA sequencing project

Reiko Kikuno, Takahiro Nagase, Mina Waki, Osamu Ohara

Nucleic Acids Res. 2002 Jan 1; 30(1): 166–168. doi: 10.1093/nar/30.1.166

PMCID:: PMC99081

Abstract Article PDF–64K

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