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  1. 1.   ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model
  2. Vitobello, Antonio; Mazel, Benoit; Lelianova, Vera G; Zangrandi, Alice; Petitto, Evelina; Suckling, Jason; Salpietro, Vincenzo; Meyer, Robert; Elbracht, Miriam; Kurth, Ingo; Eggermann, Thomas; Benlaouer, Ouafa; Lall, Gurprit; Tonevitsky, Alexander G; Scott, Daryl A; Chan, Katie M; Rosenfeld, Jill A; Nambot, Sophie; Safraou, Hana; Bruel, Ange-Line; Denommé-Pichon, Anne-Sophie; Tran Mau-Them, Frédéric; Philippe, Christophe; Duffourd, Yannis; Guo, Hui; Petersen, Andrea K; Granger, Leslie; Crunk, Amy; Bayat, Allan; Striano, Pasquale; Zara, Federico; Scala, Marcello; Thomas, Quentin; Delahaye, Andrée; de Sainte Agathe, Jean-Madeleine; Buratti, Julien; Kozlov,Serguei; Faivre, Laurence; Thauvin-Robinet, Christel; Ushkaryov, Yuri
  3. American Journal of Human Genetics. 2022, Jul 29; 109(8): 1436-1457..
  1. 2.   C/EBP beta regulates delta-secretase expression and mediates pathogenesis in mouse models of Alzheimer's disease
  2. Wang, Zhi-Hao; Gong, Ke; Liu, Xia; Zhang, Zhentao; Sun, Xiaoou; Wei, Zheng Zachory; Yu, Shan Ping; Manfredsson, Fredric P.; Sandoval, Ivette M.; Johnson, Peter; Jia, Jianping; Wang, Jian-Zhi; Ye, Keqiang
  3. NATURE COMMUNICATIONS. 2018, May 3; 9
  1. 3.   CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
  2. Windpassinger, Christian; Piard, Juliette; Bonnard, Carine; Alfadhel, Majid; Lim, Shuhui; Bisteau, Xavier; Blouin, Stéphane; Ali, Nur'Ain B; Ng, Alvin Yu Jin; Lu, Hao; Tohari, Sumanty; Talib, S Zakiah A; van Hul, Noémi; Caldez, Matias J; Van Maldergem, Lionel; Yigit, Gökhan; Kayserili, Hülya; Youssef, Sameh A; Coppola, Vincenzo; de Bruin, Alain; Tessarollo, Lino; Choi, Hyungwon; Rupp, Verena; Roetzer, Katharina; Roschger, Paul; Klaushofer, Klaus; Altmüller, Janine; Roy, Sudipto; Venkatesh, Byrappa; Ganger, Rudolf; Grill, Franz; Ben Chehida, Farid; Wollnik, Bernd; Altunoglu, Umut; Al Kaissi, Ali; Reversade, Bruno; Kaldis, Philipp
  3. American journal of human genetics. 2017, Sep 07; 101(3): 391-403.
  1. 4.   Emi2 Is Essential for Mouse Spermatogenesis
  2. Gopinathan, Lakshmi; Szmyd, Radoslaw; Low, Diana; Diril, M Kasim; Chang, Heng-Yu; Coppola, Vincenzo; Liu, Kui; Tessarollo, Lino; Guccione, Ernesto; van Pelt, Ans M M; Kaldis, Philipp
  3. Cell Reports. 2017, Jul 18; 20(3): 697-708.
  1. 5.   The Role of Estrogen Receptor alpha and beta in Regulating Vascular Smooth Muscle Cell Proliferation is Based on Sex
  2. Hogg, M. E.; Vavra, A. K.; Banerjee, M. N.; Martinez, J.; Jiang, Q.; Keefer, L. K.; Chambon, P.; Kibbe, M. R.
  3. Journal of Surgical Research. 2012, Mar; 173(1): E1-E10.
  1. 6.   Cyclin-dependent kinase 1 (Cdk1) is essential for cell division and suppression of DNA re-replication but not for liver regeneration
  2. Diril, M. K.; Ratnacaram, C. K.; Padmakumar, V. C.; Du, T. H.; Wasser, M.; Coppola, V.; Tessarollo, L.; Kaldis, P.
  3. Proceedings of the National Academy of Sciences of the United States of America. 2012, Mar; 109(10): 3826-3831.
  1. 8.   Deletion of SNAP-23 Results in Pre-Implantation Embryonic Lethality in Mice
  2. Suh, Y. H. S. Y. H.; Yoshimoto-Furusawa, A.; Weih, K. A.; Tessarollo, L.; Roche, K. W.; Mackem, S.; Roche, P. A.
  3. Plos One. 2011, Mar; 6(3): 7.
  1. 9.   Epimorphic regeneration in mice is p53-independent
  2. Arthur, L. M.; Demarest, R. M.; Clark, L.; Gourevitch, D.; Bedelbaeva, K.; Anderson, R.; Snyder, A.; Capobianco, A. J.; Lieberman, P.; Feigenbaum, L.; Heber-Katz, E.
  3. Cell Cycle. 2010, Sep; 9(18): 3667-3673.
  1. 10.   MAPK3/1 (ERK1/2) in Ovarian Granulosa Cells Are Essential for Female Fertility
  2. Fan, H. Y.; Liu, Z. L.; Shimada, M.; Sterneck, E.; Johnson, P. F.; Hedrick, S. M.; Richards, J. S.
  3. Science. 2009 324(5929): 938-941.
  1. 11.   Ablation of TNF or lymphotoxin signaling and the frequency of spontaneous tumors in p53-deficient mice
  2. Kuprash, D. V.; Qin, Z. H.; Ito, D.; Grivennikov, S. I.; Abe, K.; Drutskaya, L. N.; Blankenstein, T.; Nedospasov, S. A.
  3. Cancer Letters. 2008 268(1): 70-75.
  1. 12.   Degradation of BRCA2 in Alkyltransferase-Mediated DNA Repair and Its Clinical Implications
  2. Philip, S.; Swaminathan, S.; Kuznetsov, S. G.; Kanugula, S.; Biswas, K.; Chang, S.; Loktionova, N. A.; Haines, D. C.; Kaldis, P.; Pegg, A. E.; Sharant, S. K.
  3. Cancer Research. 2008 68(23): 9973-9981.
  1. 13.   Large-scale, saturating insertional mutagenesis of the mouse genome
  2. Gragerov, A.; Horie, K.; Pavlova, M.; Madisen, L.; Zeng, H.; Gragerova, G.; Rhode, A.; Dolka, I.; Roth, P.; Ebbert, A.; Moe, S.; Navas, C.; Finn, E.; Bergmann, J.; Vassilatis, D. K.; Pavlakis, G. N.; Gaitanaris, G. A.
  3. Proceedings of the National Academy of Sciences of the United States of America. 2007, Sep; 104(36): 14406-14411.
  1. 14.   Hemolysis in sickle cell mice causes pulmonary hypertension due to global impairment in nitric oxide bioavailability
  2. Hsu, L. L.; Champion, H. C.; Campbell-Lee, S. A.; Bivalacqua, T. J.; Manci, E. A.; Diwan, B. A.; Schimel, D. M.; Cochard, A. E.; Wang, X. D.; Schechter, A. N.; Noguchi, C. T.; Gladwin, M. T.
  3. Blood. 2007, Apr; 109(7): 3088-3098.
  1. 15.   Brain-derived neurotrophic factor (BDNF) is required for the enhancement of hippocampal neurogenesis following environmental enrichment
  2. Rossi, C.; Angelucci, A.; Costantin, L.; Braschi, C.; Mazzantini, M.; Babbini, F.; Fabbri, M. E.; Tessarollo, L.; Maffei, L.; Berardi, N.; Caleo, M.
  3. European Journal of Neuroscience. 2006, Oct; 24(7): 1850-1856.
  1. 16.   Hypersusceptibility to cisplatin carcinogenicity in metallothionein-I/II double knockout mice: Production of hepatocellular carcinoma at clinically relevant doses
  2. Waalkes, M. P.; Liu, J.; Kasprzak, K. S.; Diwan, B. A.
  3. International Journal of Cancer. 2006, JUL 1; 119(1): 28-32.
  1. 17.   Smad4 signalling in T cells is required for suppression of gastrointestinal cancer
  2. Kim, B. G.; Li, C. L.; Qiao, W. H.; Mamura, M.; Kasperczak, B.; Anver, M.; Wolfraim, L.; Hong, S.; Mushinski, E.; Potter, M.; Kim, S. J.; Fu, X. Y.; Deng, C. X.; Letterio, J. J.
  3. Nature. 2006, Jun; 441(7096): 1015-1019.
  1. 18.   Cell cycle sibling rivalry - Cdc2 vs. Cdk2
  2. Kaldis, P.; Aleem, E.
  3. Cell Cycle. 2005, NOV; 4(11): 1491-1494.
  1. 19.   Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models
  2. Difilippantonio, S.; Celeste, A.; Fernandez-Capetillo, O.; Chen, H. T.; San Martin, B. R.; Van Laethem, F.; Yang, Y. P.; Petukhova, G. V.; Eckhaus, M.; Feigenbaum, L.; Manova, K.; Kruhlak, M.; Camerini-Otero, R. D.; Sharan, S.; Nussenzweig, M.; Nussenzweig, A.
  3. Nature Cell Biology. 2005, JUL; 7(7): 675-U56.
  1. 20.   Myosin-1a is critical for normal brush border structure and composition
  2. Tyska, M. J.; Mackey, A. T.; Huang, J. D.; Copeland, N. G.; Jenkins, N. A.; Mooseker, M. S.
  3. Molecular Biology of the Cell. 2005, MAY; 16(5): 2443-2457.
  1. 21.   Repression of the inhibin alpha-subunit gene by the transcription factor CCAAT/enhancer-binding protein-beta
  2. Burkart, A. D.; Mukherjee, A.; Sterneck, E.; Johnson, P. F.; Mayo, K. E.
  3. Endocrinology. 2005, APR; 146(4): 1909-1921.
  1. 22.   Replacing acid alpha-glucosidase in Pompe disease: Recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers
  2. Raben, N.; Fukuda, T.; Gilbert, A. L.; de Jong, D.; Thurberg, B. L.; Mattaliano, R. J.; Meikle, P.; Hopwood, J. J.; Nagashima, K.; Nagaraju, K.; Plotz, P. H.
  3. Molecular Therapy. 2005, JAN; 11(1): 48-56.
  1. 23.   Exploring the relationship between serotonin and brain-derived neurotrophic factor: analysis of BDNF protein and extraneuronal 5-HT in mice with reduced serotonin transporter or BDNF expression
  2. Szapacs, M. E.; Mathews, T. A.; Tessarollo, L.; Lyons, W. E.; Mamounas, L. A.; Andrews, A. M.
  3. Journal of Neuroscience Methods. 2004, DEC 30; 140(1-2): 81-92.
  1. 24.   BCL-3 and NF-kappa B p50 attenuate lipopolysaccharide-induced inflammatory responses in macrophages
  2. Wessells, J.; Baer, M.; Young, H. A.; Claudio, E.; Brown, K.; Siebenlist, U.; Johnson, P. F.
  3. Journal of Biological Chemistry. 2004, NOV 26; 279(48): 49995-50003.
  1. 25.   The contribution of endothelial cell P-selectin to the microvascular flow of mouse sickle erythrocytes in vivo
  2. Embury, S. H.; Matsui, N. M.; Ramanujam, S.; Mayadas, T. N.; Noguchi, C.; Diwan, H. A.; Mohandas, N.; Cheung, A. T. W.
  3. Blood. 2004, NOV 15; 104(10): 3378-3385.
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