檢索結果 - Szklarczyk, Radek

Expansion of the human mitochondrial proteome by intra- and inter-compartmental protein duplication 由 Szklarczyk, Radek, Huynen, Martijn A

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Complex fate of paralogs 由 Szklarczyk, Radek, Huynen, Martijn A, Snel, Berend

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Control of mitochondrial integrity in ageing and disease 由 Szklarczyk, Radek, Nooteboom, Marco, Osiewacz, Heinz D.

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Rapid asymmetric evolution of a dual-coding tumor suppressor INK4a/ARF locus contradicts its function 由 Szklarczyk, Radek, Heringa, Jaap, Pond, Sergei Kosakovsky, Nekrutenko, Anton

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A First Look at ARFome: Dual-Coding Genes in Mammalian Genomes 由 Chung, Wen-Yu, Wadhawan, Samir, Szklarczyk, Radek, Pond, Sergei Kosakovsky, Nekrutenko, Anton

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Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system 由 van der Lee, Robin, Szklarczyk, Radek, Smeitink, Jan, Smeets, Hubert J M, Huynen, Martijn A., Vogel, Rutger

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Olfactory receptor genes cooperate with protocadherin genes in human extreme obesity 由 Mariman, Edwin C. M., Szklarczyk, Radek, Bouwman, Freek G., Aller, Erik E. J. G., van Baak, Marleen A., Wang, Ping

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C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation 由 Wanschers, Bas F. J., Szklarczyk, Radek, Pajak, Aleksandra, van den Brand, Mariël A. M., Gloerich, Jolein, Rodenburg, Richard J. T., Lightowlers, Robert N., Nijtmans, Leo G., Huynen, Martijn A.

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BOLA1 Is an Aerobic Protein That Prevents Mitochondrial Morphology Changes Induced by Glutathione Depletion 由 Willems, Peter, Wanschers, Bas F.J., Esseling, John, Szklarczyk, Radek, Kudla, Urszula, Duarte, Isabel, Forkink, Marleen, Nooteboom, Marco, Swarts, Herman, Gloerich, Jolein, Nijtmans, Leo, Koopman, Werner, Huynen, Martijn A.

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Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidas... 由 Szklarczyk, Radek, Wanschers, Bas FJ, Cuypers, Thomas D, Esseling, John J, Riemersma, Moniek, van den Brand, Mariël AM, Gloerich, Jolein, Lasonder, Edwin, van den Heuvel, Lambert P, Nijtmans, Leo G, Huynen, Martijn A

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A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy 由 Huigsloot, Merei, Nijtmans, Leo G., Szklarczyk, Radek, Baars, Marieke J.H., van den Brand, Mariël A.M., HendriksFranssen, Marthe G.M., van den Heuvel, Lambertus P., Smeitink, Jan A.M., Huynen, Martijn A., Rodenburg, Richard J.T.

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Network topology of NaV1.7 mutations in sodium channel-related painful disorders 由 Kapetis, Dimos, Sassone, Jenny, Yang, Yang, Galbardi, Barbara, Xenakis, Markos N., Westra, Ronald L., Szklarczyk, Radek, Lindsey, Patrick, Faber, Catharina G., Gerrits, Monique, Merkies, Ingemar S. J., Dib-Hajj, Sulayman D., Mantegazza, Massimo, Waxman, Stephen G., Lauria, Giuseppe

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FACIL: Fast and Accurate Genetic Code Inference and Logo 由 Dutilh, Bas E., Jurgelenaite, Rasa, Szklarczyk, Radek, van Hijum, Sacha A.F.T., Harhangi, Harry R., Schmid, Markus, de Wild, Bart, Françoijs, Kees−Jan, Stunnenberg, Hendrik G., Strous, Marc, Jetten, Mike S.M., Op den Camp, Huub J.M., Huynen, Martijn A.

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Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect 由 Theunissen, Tom E. J., Gerards, Mike, Hellebrekers, Debby M. E. I., van Tienen, Florence H., Kamps, Rick, Sallevelt, Suzanne C. E. H., Hartog, Elvira N. M. M.-D., Scholte, Hans R., Verdijk, Robert M., Schoonderwoerd, Kees, de Coo, Irenaeus F. M., Szklarczyk, Radek, Smeets, Hubert J. M.

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Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects 由 Theunissen, Tom E. J., Szklarczyk, Radek, Gerards, Mike, Hellebrekers, Debby M. E. I., Mulder-Den Hartog, Elvira N. M., Vanoevelen, Jo, Kamps, Rick, de Koning, Bart, Rutledge, S. Lane, Schmitt-Mechelke, Thomas, van Berkel, Carola G. M., van der Knaap, Marjo S., de Coo, Irenaeus F. M., Smeets, Hubert J. M.

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Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease 由 Kamps, Rick, Szklarczyk, Radek, Theunissen, Tom E., Hellebrekers, Debby M. E. I., Sallevelt, Suzanne C. E. H., Boesten, Iris B., de Koning, Bart, van den Bosch, Bianca J., Salomons, Gajja S., Simas-Mendes, Marisa, Verdijk, Rob, Schoonderwoerd, Kees, de Coo, Irenaeus F. M., Vanoevelen, Jo M., Smeets, Hubert J. M.

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Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression 由 Tucker, Elena J., Wanschers, Bas F. J., Szklarczyk, Radek, Mountford, Hayley S., Wijeyeratne, Xiaonan W., van den Brand, Mariël A. M., Leenders, Anne M., Rodenburg, Richard J., Reljić, Boris, Compton, Alison G., Frazier, Ann E., Bruno, Damien L., Christodoulou, John, Endo, Hitoshi, Ryan, Michael T., Nijtmans, Leo G., Huynen, Martijn A., Thorburn, David R.

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Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers 由 Verdonschot, Job A. J., Robinson, Emma L., James, Kiely N., Mohamed, Mohamed W., Claes, Godelieve R. F., Casas, Kari, Vanhoutte, Els K., Hazebroek, Mark R., Kringlen, Gabriel, Pasierb, Michele M., van den Wijngaard, Arthur, Glatz, Jan F. C., Heymans, Stephane R. B., Krapels, Ingrid P. C., Nahas, Shareef, Brunner, Han G., Szklarczyk, Radek

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Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause 由 Theunissen, Tom E. J., Nguyen, Minh, Kamps, Rick, Hendrickx, Alexandra T., Sallevelt, Suzanne C. E. H., Gottschalk, Ralph W. H., Calis, Chantal M., Stassen, Alphons P. M., de Koning, Bart, Mulder-Den Hartog, Elvira N. M., Schoonderwoerd, Kees, Fuchs, Sabine A., Hilhorst-Hofstee, Yvonne, de Visser, Marianne, Vanoevelen, Jo, Szklarczyk, Radek, Gerards, Mike, de Coo, Irenaeus F. M., Hellebrekers, Debby M. E. I., Smeets, Hubert J. M.

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A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy 由 Zazo Seco, Celia, Castells-Nobau, Anna, Joo, Seol-hee, Schraders, Margit, Foo, Jia Nee, van der Voet, Monique, Velan, S. Sendhil, Nijhof, Bonnie, Oostrik, Jaap, de Vrieze, Erik, Katana, Radoslaw, Mansoor, Atika, Huynen, Martijn, Szklarczyk, Radek, Oti, Martin, Tranebjærg, Lisbeth, van Wijk, Erwin, Scheffer-de Gooyert, Jolanda M., Siddique, Saadat, Baets, Jonathan, de Jonghe, Peter, Kazmi, Syed Ali Raza, Sadananthan, Suresh Anand, van de Warrenburg, Bart P., Khor, Chiea Chuen, Göpfert, Martin C., Qamar, Raheel, Schenck, Annette, Kremer, Hannie, Siddiqi, Saima

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