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4 documents found
1: Title: Whole-exome sequencing for variant discovery in blepharospasm.
Authors: Tian, Jun, .
Journal: Molecular genetics & genomic medicine (Mol Genet Genomic Med), 2018 .
Snippet: Deleterious variants in DNAH17, TRPV4, CAPN11, VPS13C, UNC13B, SPTBN4, MYOD1, and MRPL15 were found in two or more independent pedigrees.
Affiliation: Departments of Neurology and Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis, Tennessee. Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China. Department of Molecular Medicine, University of Pavia, Pavia, Italy. Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy. Department of Basic Clinical Sciences, Neuroscience and Sense Organs, Aldo Moro University of Bari, Bari, Italy. Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy. Department of Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy. Department of Neurology, Faculty of Medicine, Medical University of Silesia, Katowice, Poland. Department of Neurology, Mayo Clinic Florida, Jacksonville, Florida. Department of Neurology, Vanderbilt University, Nashville, Tennessee. .
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2: Title: Mitochondrial markers predict recurrence, metastasis and tamoxifen-resistance in breast cancer patients: Early detection of treatment failure with companion diagnostics.
Authors: Sotgia, Federica, .
Journal: Oncotarget, Vol. 8 (40): 68730-68745, 2017 .
Snippet: In addition, we combined 4 mitochondrial proteins (HSPD1, UQCRB, MRPL15, COX17), to generate a compact mitochondrial gene signature, associated with a HR of 5.34 (p=1e-09).
Affiliation: Translational Medicine, School of Environment & Life Sciences, University of Salford, Greater Manchester, United Kingdom. The Department of Pharmacy, Health and Nutritional Sciences, The University of Calabria, Cosenza, Italy. .
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3: Title: Signed weighted gene co-expression network analysis of transcriptional regulation in murine embryonic stem cells.
Authors: Mason, Mike J, .
Journal: BMC genomics, Vol. 10, 2009 .
Snippet: Using a connectivity measure of module membership, we not only identify known regulators of ES cells but also show that Mrpl15, Msh6, Nrf1, Nup133, Ppif, Rbpj, Sh3gl2, and Zfp39, among other genes, have important roles in maintaining ES cell pluripotency and self-renewal.
Affiliation: Statistics, University of California, Los Angeles, CA 90095, USA. .
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4: Title: The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria.
Authors: Emdadul Haque, Md, .
Journal: Mitochondrion, Vol. 8 (3): 254-61, 2008 .
Snippet: Two large subunit ribosomal proteins, MRPL13 and MRPL15, were present in substantial amounts suggesting that the large ribosomal subunit is still present despite a non-functional small subunit.
Affiliation: Department of Chemistry, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-3290, USA. .
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