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Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer

Royer-Bertrand, Beryl ; Rivolta, Carlo

In: Cellular and Molecular Life Sciences, 2015, vol. 72, no. 8, p. 1463-1471

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

Ansar, Muhammad ; Chung, Hyunglok ; Waryah, Yar M. ; Makrythanasis, Periklis ; Falconnet, Emilie ; Rao, Ali Raza ; Guipponi, Michel ; Narsani, Ashok K. ; Fingerhut, Ralph ; Santoni, Federico A. ; Ranza, Emmanuelle ; Waryah, Ali M. ; Bellen, Hugo J. ; Antonarakis, Stylianos E.

In: Human Molecular Genetics, 2018, vol. 27, no. 15, p. 2703-2711

Proteasomal degradation induced by DPP9-mediated processing competes with mitochondrial protein import

Finger, Yannik ; Habich, Markus ; Gerlich, Sarah ; Urbanczyk, Sophia ; Logt, Erik ; Koch, Julian ; Schu, Laura ; Lapacz, Kim Jasmin ; Ali, Muna ; Petrungaro, Carmelina ; Salscheider, Silja Lucia ; Pichlo, Christian ; Baumann, Ulrich ; Mielenz, Dirk ; Dengjel, Jörn ; Brachvogel, Bent ; Hofmann, Kay ; Riemer, Jan

In: The EMBO Journal, 2020, vol. 39, no. 19, p. e103889

Plasticity of the proteome is critical to adapt to varying conditions. Control of mitochondrial protein import contributes to this plasticity. Here, we identified a pathway that regulates mitochondrial protein import by regulated N-terminal processing. We demonstrate that dipeptidyl peptidases 8/9 (DPP8/9) mediate the N-terminal processing of adenylate kinase 2 (AK2) en route to mitochondria....

Functional similarity and dissimilarity facilitate alien plant invasiveness along biotic and abiotic gradients in an arid protected area

El-Barougy, Reham F. ; Elgamal, Ibrahim ; Rohr, Rudolf P. ; Probert, Anna F. ; Khedr, Abdel-Hamid A. ; Bacher, Sven

In: Biological Invasions, 2020, vol. 22, no. 6, p. 1997–2016

Two contradictory hypotheses have been put forth to forecast alien invasiveness: being either functionally similar, or dissimilar, to resident natives along environmental gradients. The ‘try-harder’ hypothesis predicts that alien plants will be functionally dissimilar to natives and should thus exhibit exaggerated trait values when compared to natives in respect to resource extraction or...

Dal Cairo a Roma. Visual Arts and Transcultural Interactions between Egypt and Italy

Radwan, Nadia

In: Asiatische Studien - Études Asiatiques, 2016, vol. 70, no. 4, p. 1093-1114

Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene

El Matri, Leila ; Ambresin, Aude ; Schorderet, Daniel ; Kawasaki, Aki ; Seeliger, Mathias ; Wenzel, Andreas ; Arsenijevic, Yvan ; Borruat, François‐Xavier ; Munier, Francis

In: Graefe's Archive for Clinical and Experimental Ophthalmology, 2006, vol. 244, no. 9, p. 1104-1112

Sustainable development and international cooperation in the Eastern Nile Basin

Amer, Salah ; Arsano, Yacob ; El-Battahani, Atta ; Hamad, Osman ; Hefny, Magdy ; Tamrat, Imeru ; Mason, Simon

In: Aquatic Sciences, 2005, vol. 67, no. 1, p. 3-14

Abstracts of presentations on selected topics at the XIVth international plant protection congress (IPPC) July 25-30, 1999

Hull, R. ; Kuiper, H. ; Noordam, Maryvon ; Hoy, Marjorie ; Cory, Jenny ; Fereres, A. ; Gonzalez, P. ; Meins, F. ; Elkind, Y. ; Charrier, Benedicte ; Meyer, P. ; Metzlaff, M. ; Schuch, W. ; Ikin, R. ; Parnell, T. ; Frison, E. ; Spiegel, S. ; Diekmann, Marlene ; Ausher, R. ; Hollingworth, R. ; Holm, Robert ; Ragsdale, N. ; Federici, B. ; Vlak, J. ; Chejanovsky, N. ; Bianchi, F. ; Joosten, Nina ; Gutierrez, Serafin ; van der Wert, W. ; Regev, A. ; Inceoglu, B. ; Reske, G. ; Gershburg, E. ; Rivkin, H. ; Zilberberg, N. ; Froy, O. ; Gurevitz, M. ; Hammock, B. ; Llobell, A. ; Monte, E. ; González-Candelas, L. ; Dealessi, Laura ; Camponogara, Andrea ; Ramón-Vidal, D. ; Migheli, Q. ; Chernin, L. ; Zhou, L. ; Ovadis, M. ; Ismailov, Z. ; Chet, I. ; Teng, P. ; Mohankumar, S. ; Renganayaki, K. ; Nagarajan, P. ; Balasaraswathi, R. ; Shanmugasundaram, P. ; Reddy, Avutu ; Sadasivam, S. ; Thottappilly, G. ; Ng, S. ; Winter, S. ; Shvidchenko, V. ; Manadilova, A. ; Sadvakasova, G. ; Sozinova, L. ; Levy, D. ; Loebenstein, G. ; Khadi, B. ; Kulkarni, V. ; Patil, S. ; Freyssinet, G. ; Kaufmann, J. ; Owen, M. ; Dolgov, S. ; Rotteveel, A. ; Gressel, J. ; Tzotzos, G. ; Ammann, K. ; Jacot, Yolande ; Raybould, A. ; Gray, A. ; Maskell, L. ; Cooper, J. ; Edwards, M. ; Pallet, D. ; Williams, D. ; Smith, M. ; Aldwinckle, H. ; Norelli, J. ; Bolar, J. ; Harman, G. ; Martini, N. ; Porsch, Petra ; Mahn, A. ; Bulow, L. ; Brinkmann, O. ; Giet't'ers, W. ; During, K. ; Dahan, Aviva ; Fahima, T. ; Nevo, E. ; Dickman, M. ; Gonsalves, D. ; Cheng, Z. ; Wu, M. ; He, X. ; Chen, C. ; Zhang, J. ; Gafni, Y. ; Daly, J. ; Fitt, G. ; Olsen, K. ; Mares, C. ; Moran, R. ; Garcia, R. ; Mena, J. ; Zaldua, Zurima ; Garcia, Melba ; Lopez, Alina ; Somonte, Danalay ; Alvarez, Irene ; de la Riva, G. ; Selman, G. ; Shomer-Ilan, Adiva ; Walsh, J. ; Jenner, Carol ; Rusholme, Rachel ; Hughes, Sara ; Sanchez, Flora ; Ponz, F. ; Lydiate, D. ; Röder, Marion ; Peng, Jun-Hua ; Grama, Adriana ; Korol, A. ; Paran, I. ; Zamir, D. ; van der Voort, J. ; van Eck, H. ; van Koert, P. ; van Os, H. ; Buntjer, J. ; Visser, R. ; Stiekema, W. ; Bakker, J. ; Lankhorst, R. ; van der Vossen, E. ; Kanyuka, K. ; Bendahmane, A. ; Monk, Kathy ; Tomerlin, J. ; Petersen, B. ; Leonard, P. ; Smith, I. ; Shaner, D. ; Delbridge, T. ; Levy, Edna ; Kovanci, O. ; Kovanci, B. ; Salpiggidis, G. ; Navrozidis, E. ; Zartaloudis, Z. ; El-Shemy, Hamied ; Di Primo, P. ; Cartia, G. ; Rahman, Mohamed ; Lopez-Martinez, Nuria ; De Prado, R. ; El-Nahhal, Y. ; Safi, J. ; Polubesova, Tamara ; Levi, Avishag ; Margulies, L. ; Rubin, B. ; Undabeytia, T.

In: Phytoparasitica, 1999, vol. 27, no. 4, p. 299-332

Effect of transnasal insufflation on sleep disordered breathing in acute stroke: a preliminary study

Haba-Rubio, José ; Andries, Daniela ; Rey, Vincianne ; Michel, Patrik ; Tafti, Mehdi ; Heinzer, Raphael

In: Sleep and Breathing, 2012, vol. 16, no. 3, p. 759-764

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities

Kretz, Rita ; Bozorgmehr, Bita ; Kariminejad, Mohamad ; Rohrbach, Marianne ; Hausser, Ingrid ; Baumer, Alessandra ; Baumgartner, Matthias ; Giunta, Cecilia ; Kariminejad, Ariana ; Häberle, Johannes

In: Journal of Inherited Metabolic Disease, 2011, vol. 34, no. 3, p. 731-739