Publications

Most recent publications (2010 – today) 

Neuroblastoma Subgroup (PI Dr Annick Mühlethaler PhD)

  1. Mühlethaler-Mottet A, Uccella S, Marchiori D, La Rosa S, Daraspe J, Balmas Bourloud K, Beck Popovic M, Eugster PJ, Grouzmann E, Abid K. Low number of neurosecretory vesicles in neuroblastoma impairs massive catecholamine release and prevents hypertension. Front Endocrinol. 2022. Pubmed
  2. Maria-Vittoria Sepporta, Viviane Praz, Katia Balmas Bourloud, Jean-Marc Joseph, Nicolas Jauquier, Nicolo Riggi, Katya Nardou-Auderset, Audrey Petit, Jean-Yves Scoazec, Hervé Sartelet, Raffaele Renella, Annick Mühlethaler-Mottet. TWIST1 expression is associated with high-risk neuroblastoma and promotes primary and metastatic tumor growth. Commun Biol 2022. Pubmed
  3. Bellini A., Pötschger U., Bernard V., Lapouble E., Baulande S., Ambros P.F., Auger N., Beiske K, Bernkopf M., Betts D.R., Bhalshankar J., Bown N.,  de Preter K, Clément N.,  Combaret V., Font de Mora J., George S.L., Jiménez I., Jeison M, Marques B, Martinsson T., Mazzocco K, Morini M., Mühlethaler-Mottet A., Noguera R., Pierron G., Rossing C.M., Taschner-Mandl S., Van Roy N., Vicha A., Chesler L., Balwierz W., Castel V., Elliott M., Kogner P.,  Laureys G., Luksch R., Malis J., Popovic-Beck M.,  Ash S., Delattre O., Valteau-Couanet D., Tweddle D.A., Ladenstein R., Schleiermacher G. Frequency and prognostic impact of ALK amplifications and mutations in the European Neuroblastoma Study Group (SIOPEN) high-risk neuroblastoma trial  (HR-NBL1). J Clin Oncol. 2021. Pubmed
  4. Karim Abid, Maja Beck Popovic, Katia Balmas Bourloud, Jacqueline Schoumans, Joana Grand-Guillaume, Eric Grouzmann and Annick Mühlethaler-Mottet. The noradrenergic profile of plasma metanephrine in neuroblastoma patients is reproduced in xenograft mice models and arise from PNMT downregulation. Oncotarget. 2021. Pubmed
  5. Vivancos Stalin L., Gualandi M., Schulte J.H., Renella R., Shakhova O., Mühlethaler-Mottet A. Expression of the neuroblastoma-associated ALK-F1174L activating mutation during embryogenesis impairs the differentiation of neural crest progenitors in sympathetic ganglia. Front. Oncol. 2019. PubMed
  6. M. Flahaut, N. Jauquier, N. Chevalier, K. Nardou, K. Balmas Bourloud, J.M. Joseph, D. Barras, C. Widmann, N. Gross, R. Renella and A. Mühlethaler-Mottet. Aldehyde Dehydrogenase Activity Plays a Key Role in the Aggressive Phenotype of Neuroblastoma. BMC Cancer 2016. PubMed
  7. Mühlethaler-Mottet A, Liberman J, Ascenção K, Flahaut M, Balmas Bourloud K, Yan P, Jauquier N, Gross N, Joseph JM. The CXCR4/CXCR7/CXCL12 Axis Is Involved in a Secondary but Complex Control of Neuroblastoma Metastatic Cell Homing. PLoS One 2015. PubMed
  8. Montavon G, Jauquier N, Coulon A, Peuchmaur M, Flahaut M, Bourloud KB, Yan P, Delattre O, Sommer L, Joseph JM, Janoueix-Lerosey I, Gross N, Mühlethaler-Mottet A. Wild-type ALK and activating ALK-R1275Q and ALK-F1174L mutations up regulate Myc and initiate tumor formation in murine neural crest progenitor cells.
    Oncotarget 2014. PubMed
  9. Liberman J, Sartelet H, Flahaut M, Mühlethaler-Mottet A, Coulon A, Nyalendo C, Vassal G, Joseph JM, Gross N. Involvement of the CXCR7/CXCR4/CXCL12 axis in the malignant progression of human neuroblastoma. PLoS One 2012. PubMed
  10. Coulon A, Flahaut M, Mühlethaler-Mottet A, Meier R, Liberman J, Balmas-Bourloud K, Nardou K, Yan P, Tercier S, Joseph JM, Sommer L, Gross N. Functional sphere profiling reveals the complexity of neuroblastoma tumor-initiating cell model. Neoplasia 2011.  PubMed
  11. Mühlethaler-Mottet A, Flahaut M, Bourloud KB, Nardou K, Coulon A, Liberman J, Thome M, Gross N. Individual caspase-10 isoforms play distinct and opposing roles in the initiation of death receptor-mediated tumour cell apoptosis. Cell Death Dis 2011. PubMed

Pediatric Hematology Subgroup (PI Dr Raffaele Renella MD PhD, all prior affiliations: Williams Lab, Boston USA and Wood Lab, Oxford, UK

  1. Altrock PM, Brendel C, Renella R, Orkin SH, Williams DA, Michor F. Mathematical modeling of erythrocyte chimerism informs genetic intervention strategies for sickle cell disease. Am J Hematol. 2016 PubMed
  2. Renella R. Clinically-oriented proteomic investigation of sickle cell disease:Opportunities and challenges. Proteomics Clin Appl. 2016. PubMed
  3. Gavillet M, Martinod K, Renella R, Harris C, Shapiro NI, Wagner DD, Williams DA. Flow cytometric assay for direct quantification of neutrophil extracellular traps in blood samples. Am J Hematol 2015. PubMed
  4. Guda S, Brendel C, Renella R, Du P, Bauer DE, Canver MC, Grenier JK, Grimson AW, Kamran SC, Thornton J, de Boer H, Root DE, Milsom MD, Orkin SH, Gregory RI, Williams DA. miRNA-embedded shRNAs for Lineage-specific BCL11A Knockdown and Hemoglobin F Induction. Mol Ther 2015. PubMed
  5. Renella R. Age-dependent pathophysiology of acute chest syndrome in children with sickle cell disease. Am J Hematol 2015. PubMed
  6. Renella R, Schlehe JS, Selkoe DJ, Williams DA, LaVoie MJ. Genetic deletion of  the GATA1-regulated protein ?-synuclein reduces oxidative stress and nitric oxide synthase levels in mature erythrocytes. Am J Hematol 2014. PubMed
  7. Renella R, Carnevale J, Schneider KA, Hornick JL, Rana HQ, Janeway KA. Exploring the association of succinate dehydrogenase complex mutations with lymphoid malignancies. Fam Cancer. 2014. PubMed
  8. Renella R, Stickney C, Keswani M, Mancuso T, Casavant D, Ferguson M, Narla A.  Fulminant thrombotic microangiopathy in pediatrics: where diagnostic and therapeutic dilemmas meet. Am J Hematol 2012. PubMed
  9. Tolar J, Adair JE, Antoniou M, Bartholomae CC, Becker PS, Blazar BR, Bueren J, Carroll T, Cavazzana-Calvo M, Clapp DW, Dalgleish R, Galy A, Gaspar HB, Hanenberg H, Von Kalle C, Kiem HP, Lindeman D, Naldini L, Navarro S, Renella R, Rio P, Sevilla J, Schmidt M, Verhoeyen E, Wagner JE, Williams DA, Thrasher AJ. Stem cell gene therapy for fanconi anemia: report from the 1st international Fanconi anaemia gene therapy working group meeting. Mol Ther 2011. PubMed
  10. Renella R, Roberts NA, Brown JM, De Gobbi M, Bird LE, Hassanali T, Sharpe JA, Sloane-Stanley J, Ferguson DJ, Cordell J, Buckle VJ, Higgs DR, Wood WG. Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts. Blood 2011. PubMed
  11. De Gobbi M, Garrick D, Lynch M, Vernimmen D, Hughes JR, Goardon N, Luc S, Lower KM, Sloane-Stanley JA, Pina C, Soneji S, Renella R, Enver T, Taylor S, Jacobsen SE, Vyas P, Gibbons RJ, Higgs DR. Generation of bivalent chromatin domains during cell fate decisions. Epigenetics Chromatin 2011. PubMed