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Items: 12

1.
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions
Mridul Johari, Jaakko Sarparanta, Anna Vihola, Per Harald Jonson, Marco Savarese, Manu Jokela, Annalaura Torella, Giulio Piluso, Edith Said, Norbert Vella, Marija Cauchi, Armelle Magot, Francesca Magri, Eleonora Mauri, Cornelia Kornblum, Jens Reimann, Tanya Stojkovic, Norma B. Romero, Helena Luque, Sanna Huovinen, Päivi Lahermo, Kati Donner, Giacomo Pietro Comi, Vincenzo Nigro, Peter Hackman, Bjarne Udd
Acta Neuropathol. 2021; 142(2): 375–393. Published online 2021 May 11. doi: 10.1007/s00401-021-02319-x
PMCID:
PMC8270885
AbstractArticlePDF–2.9M
2.
Whole‐exome sequencing identifies a donor splice‐site variant in SMPX that causes rare X‐linked congenital deafness
Yuan Lv, Jia Gu, Hao Qiu, Huan Li, Zhitao Zhang, Shaowei Yin, Yan Mao, Lingyin Kong, Bo Liang, Hongkun Jiang, Caixia Liu
Mol Genet Genomic Med. 2019 Nov; 7(11): e967. Published online 2019 Sep 3. doi: 10.1002/mgg3.967
PMCID:
PMC6825843
AbstractArticlePDF–1.3M
3.
A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family
Zhijie Niu, Yong Feng, Lingyun Mei, Jie Sun, Xueping Wang, Juncheng Wang, Zhengmao Hu, Yunpeng Dong, Hongsheng Chen, Chufeng He, Yalan Liu, Xinzhang Cai, Xuezhong Liu, Lu Jiang
PLoS One. 2017; 12(5): e0178384. Published online 2017 May 25. doi: 10.1371/journal.pone.0178384
PMCID:
PMC5444825
AbstractArticlePDF–1.5M
4.
Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss
Antje K. Huebner, Marta Gandia, Peter Frommolt, Anika Maak, Eva M. Wicklein, Holger Thiele, Janine Altmüller, Florian Wagner, Antonio Viñuela, Luis A. Aguirre, Felipe Moreno, Hannes Maier, Isabella Rau, Sebastian Gießelmann, Gudrun Nürnberg, Andreas Gal, Peter Nürnberg, Christian A. Hübner, Ignacio del Castillo, Ingo Kurth
Am J Hum Genet. 2011 May 13; 88(5): 621–627. doi: 10.1016/j.ajhg.2011.04.007
PMCID:
PMC3146719
AbstractArticlePDF–802K
5.
Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment
Margit Schraders, Stefan A. Haas, Nicole J.D. Weegerink, Jaap Oostrik, Hao Hu, Lies H. Hoefsloot, Sriram Kannan, Patrick L.M. Huygen, Ronald J.E. Pennings, Ronald J.C. Admiraal, Vera M. Kalscheuer, Henricus P.M. Kunst, Hannie Kremer
Am J Hum Genet. 2011 May 13; 88(5): 628–634. doi: 10.1016/j.ajhg.2011.04.012
PMCID:
PMC3146715
AbstractArticlePDF–587K
6.
The nuclear receptor NOR-1 regulates the small muscle protein, X-linked (SMPX) and myotube differentiation
Beatriz Ferrán, Ingrid Martí-Pàmies, Judith Alonso, Ricardo Rodríguez-Calvo, Silvia Aguiló, Francisco Vidal, Cristina Rodríguez, José Martínez-González
Sci Rep. 2016; 6: 25944. Published online 2016 May 16. doi: 10.1038/srep25944
PMCID:
PMC4867575
AbstractArticlePDF–1.3M
7.
Overexpression of SMPX in Adult Skeletal Muscle Does not Change Skeletal Muscle Fiber Type or Size
Einar Eftestøl, Tine Norman Alver, Kristian Gundersen, Jo C. Bruusgaard
PLoS One. 2014; 9(6): e99232. Published online 2014 Jun 17. doi: 10.1371/journal.pone.0099232
PMCID:
PMC4060999
AbstractArticlePDF–508K
8.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
AbstractArticlePDF–2.7M
9.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
10.
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
AbstractArticlePDF–140K
11.
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
AbstractArticlePDF–118K
12.
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
AbstractArticlePDF–1.0M

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