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Journal Articles

Breakthroughs in Preclinical Development of Ataluren (PTC124) As Therapeutic Option for Patients Affected By Shwachman-Diamond Syndrome: Towards the First Clinical Trial

Valentino Bezzerri, PhD, Antonio Vella, PhD, Elisabetta D'Aversa, PhD, Martina Api, PhD, Marisole Allegri, MSc, Elena Marinelli Busilacchi, PhD, Giovanna D'Amico, BSc, PhD MSc, Roberto Gambari, PhD, Claudio Sorio, MD PhD, Benedetta Fabrizzi, MD, Vincenzo Bronte, MD, Antonella Poloni, PhD MD, Monica Borgatti, PhD, Marco Cipolli, MD
Journal: Blood
Blood (2019) 134 (Supplement_1): 451.
https://doi.org/10.1182/blood-2019-127866
Published: 2019
Journal Articles

Hematological Presentation and Change in Clinical Phenotype during Follow-up in Pearson Syndrome

Ayami Yoshimi, MD PhD, Sarah C Grünert, MD, Holger Cario, MD PhD, Ute Gross-Wieltsch, MD, Udo Kontny, MD, Kyogo Suzuki, MD PhD, Stephan Lobitz, MD, Helen Wagner, MD, Irene Schmid, MD, Daniela Karall, MD, Arndt Borkhardt, MD, Miriam Erlacher, Peter Noellke, MPH, Charlotte M. Niemeyer, MD
Journal: Blood
Blood (2019) 134 (Supplement_1): 3746.
https://doi.org/10.1182/blood-2019-125199
Published: 2019
Journal Articles

Mutation-Specific Dose Reduction in Functional SRP54 Protein Causes Isolated or Syndromic Neutropenia with Shwachman-Diamond-like Features

Martina Konantz, PhD, Christoph Schürch, MSc, Joelle S. Müller, MSc, Jonas Schärer, BSc, Raphael Carapito, PhD, Seiamak Bahram, MD, Claudia Lengerke, MD
Journal: Blood
Blood (2018) 132 (Supplement 1): 1300.
https://doi.org/10.1182/blood-2018-99-118927
Published: 2018
Journal Articles

Deletion of BMP6 Worsens the Phenotype of Hemojuvelin-Deficient Mice and Attenuates Hepcidin Levels Reached after LPS Stimulation

Chloé Latour, Céline Besson-Fournier, Ophélie Gourbeyre, Delphine Meynard, PhD, Aguilar-Martinez Patricia, MD PhD, Marie-Paule Roth, MD, Helene Coppin, PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 226.
https://doi.org/10.1182/blood.V130.Suppl_1.226.226
Published: 2017
Journal Articles

Frequency and Evolution of TP53 Mutant Clones in Shwachman Diamond Syndrome. a Cohort Study from the French Severe Chronic Neutropenia (SCN) Registry

Jean Donadieu, MD, Jean-Alain Martignoles, MD, Blandine Beaupain, MsC, Pascale Flandrin-Gresta, MD, Hannah Moatti, MD, Pierre Hirsch, MDPhD, Despina Moshous, Stephane Blanche, MD, Dalila Adjaoud, MD, Etienne Merlin, MD, Fanny Fouyssac, MD, Ouahiba Nachit, MsC, Yves Bertrand, MD, Virginie Gandemer, MDPhD, Nathalie Aladjidi, MD, Marlène Pasquet, MD, Thierry Leblanc, MD, Vincent Barlogis, MD, Isabelle Meitz, MDPhD, Vahid Asnafi, MD PhD, Guy Leverger, MD PhD, Hélène Lapillonne, MD PhD, Christine bellanne Chantelot, MDPhD, Francois Delhommeau, MD PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 780.
https://doi.org/10.1182/blood.V130.Suppl_1.780.780
Published: 2017
Journal Articles

Transferrin Receptor 2 and HFE Regulate Hepcidin Levels Independently of Bmp6 and Hemojuvelin

Céline Besson-Fournier, Chloé Latour, Ophélie Gourbeyre, Patricia Aguilar-Martinez, MD PhD, Laura Silvestri, PhD, Marie-Paule Roth, MD, Hélène Coppin, PhD
Journal: Blood
Blood (2014) 124 (21): 746.
https://doi.org/10.1182/blood.V124.21.746.746
Published: 2014
Journal Articles

Inactivating Hfe Totally Abolishes Hepcidin Production and Further Aggravates Iron Overload In Bmp6-Deficient Mice

Chloe Latour, Celine Besson-Fournier, Nelly Rouquie, Léon Kautz, PhD, Patricia Aguilar-Martinez, Marie-Paule Roth, MD, Helene Coppin
Journal: Blood
Blood (2013) 122 (21): 178.
https://doi.org/10.1182/blood.V122.21.178.178
Published: 2013
Journal Articles

In Vivo Disruption Of The Hepcidin−Ferroportin Regulatory Circuitry Causes Fatal Systemic and Exocrine Pancreatic Iron Overload

Sandro Altamura, PhD, Hermann Josef Gröne, MD, Regina Kessler, Bruno Galy, PhD, Matthias W. Hentze, MD, Martina U. Muckenthaler, PhD
Journal: Blood
Blood (2013) 122 (21): 175.
https://doi.org/10.1182/blood.V122.21.175.175
Published: 2013
Journal Articles

Mitochondrial Dysfunction As a Potential Source of Reactive Oxygen Species in Cellular Models of Shwachman-Diamond Syndrome

Adrianna Henson, Joseph B Moore, IV, PhD, Johnson M. Liu, MD, Steven Ellis, PhD
Journal: Blood
Blood (2011) 118 (21): 1343.
https://doi.org/10.1182/blood.V118.21.1343.1343
Published: 2011
Journal Articles

Sec23b deficiency In Mice Results In Pancreatic Destruction and Defective long Term Hematopoietic Stem Cell Function

Matthew Vasievich, BS, Bin Zhang, PhD, Jesse Rinehart, PhD, Morgan Jones, BS/MS, Ivan Maillard, MD, PhD, David Ginsburg, MD
Journal: Blood
Blood (2010) 116 (21): 2038.
https://doi.org/10.1182/blood.V116.21.2038.2038
Published: 2010
Journal Articles

Shwachman-Diamond-Bodian Syndrome (SBDS): Long-Term Follow-Up of 31 Patients.

Cornelia Zeidler, MD, Peter Lohse, MD, Beate Schwinzer, PhD, Gusal Pracht, BS, Karl-Walter Sykora, MD, Karl H. Welte, MD
Journal: Blood
Blood (2006) 108 (11): 1282.
https://doi.org/10.1182/blood.V108.11.1282.1282
Published: 2006
Journal Articles

Pluripotent Unrestricted Somatic Stem Cells (USSC) from Cord Blood Generate Hepatocytes in Vivo, but In Vitro Convert into Immature Endodermal Precursors: The Critical Role of the Biological Niche.

Sandra Sensken, Juergen Enczmann, Ph.D., Thorsten Trapp, Ph.D., Esmail Zanjani, Ph.D., Peter Wernet, MD, Gesine Koegler, Ph.D.
Journal: Blood
Blood (2004) 104 (11): 3596.
https://doi.org/10.1182/blood.V104.11.3596.3596
Published: 2004