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Journal Articles

Homozygous Southeast Asian ovalocytosis is a severe dyserythropoietic anemia associated with distal renal tubular acidosis

Véronique Picard, Alexis Proust, Marion Eveillard, Joanna F. Flatt, Marie-Laure Couec, Gaêlle Caillaux, Madeleine Fénéant-Thibault, Arie Finkelstein, Martine Raphaël, Jean Delaunay, Lesley J. Bruce, Serge Pissard, Caroline Thomas

Blood (2014) 123 (12): 1963–1965.

https://doi.org/10.1182/blood-2014-01-548149

Published: 2014

Journal Articles

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

Blood (2013) 121 (19): 3925–3935.

https://doi.org/10.1182/blood-2013-02-482489

Published: 2013

Includes: Supplemental data

Journal Articles

Missense Mutations in the ABCB6 Transporter Cause Dominant Familial Pseudohyperkalemia

Immacolata Andolfo, Seth Alper, MD, PhD, Jean Delaunay, Carla Auriemma, Roberta Russo, Maria Rosaria Esposito, Alok K. Sharma, Boris E Shmukler, David H Vandorpe, Carlo Brugnara, M.D., Lucia De Franceschi, MD, Achille Iolascon, MD, PhD

Blood (2012) 120 (21): 3184.

https://doi.org/10.1182/blood.V120.21.3184.3184

Published: 2012

Journal Articles

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1 : a novel form of GLUT1 deficiency syndrome

Joanna F. Flatt, Hélène Guizouarn, Nicholas M. Burton, Franck Borgese, Richard J. Tomlinson, Robert J. Forsyth, Stephen A. Baldwin, Bari E. Levinson, Philippe Quittet, Patricia Aguilar-Martinez, Jean Delaunay, Gordon W. Stewart, Lesley J. Bruce

Blood (2011) 118 (19): 5267–5277.

https://doi.org/10.1182/blood-2010-12-326645

Published: 2011

Includes: Supplemental data

Journal Articles

The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein

Lesley J. Bruce, Hélène Guizouarn, Nicholas M. Burton, Nicole Gabillat, Joyce Poole, Joanna F. Flatt, R. Leo Brady, Franck Borgese, Jean Delaunay, Gordon W. Stewart

Blood (2009) 113 (6): 1350–1357.

https://doi.org/10.1182/blood-2008-07-171140

Published: 2009

Includes: Supplemental data

Journal Articles

Alterations in the band3/Rh Protein Complex in Erythrocyte Membranes of Protein 4.2 (Chartres) deficient Cells Occur Late during Erythropoiesis

Emi le van den Akker, Timothy J Satchwell, Jo F Flatt, Stephanie Pellegrin, M. Maigre, Richard B Sessions, Geoff Daniels, Jean Delaunay, Lesley J Bruce, Ashley M Toye

Blood (2008) 112 (11): 3460.

https://doi.org/10.1182/blood.V112.11.3460.3460

Published: 2008

Journal Articles

Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A

Ashley M. Toye, Rosalind C. Williamson, Moudji Khanfar, Brigitte Bader-Meunier, Thérèse Cynober, Madeleine Thibault, Gil Tchernia, Michèle Déchaux, Jean Delaunay, Lesley J. Bruce

Blood (2008) 111 (11): 5380–5389.

https://doi.org/10.1182/blood-2007-07-099473

Published: 2008

Includes: Supplemental data

Journal Articles

Two Distinct Mechanisms Are Responsible for Regulation of Ribosomal Protein S19 Expression Level in Diamond-Blackfan Anemia by NF-κB Pathway.

Corinne Hurtaud, PhD, Aurore Cretien, PhD, Valerie Clayette, PhD, Didier Pisani, PhD, Stephane Giraudier, MD, PhD, Thierry Leblanc, MD, Jean Delaunay, MD, PhD, Gil Tchernia, MD, Narla Mohandas, PhD, Lydie Da Costa, MD, PhD

Blood (2007) 110 (11): 1684.

https://doi.org/10.1182/blood.V110.11.1684.1684

Published: 2007

Journal Articles

Induction of GLUT1 during Erythropoiesis Triggers a Switch from Glucose to DHA Uptake in Vitamin C-Defective Mammals.

Amelie Montel-Hagen, Sandrina Kinet, PhD, Nicolas Manel, PhD, Cedric Mongellaz, Rainer Prohaska, PhD, Jean-Luc Battini, PhD, Jean Delaunay, MD PhD, Marc Sitbon, PhD, Naomi Taylor, MD PhD

Blood (2007) 110 (11): 1705.

https://doi.org/10.1182/blood.V110.11.1705.1705

Published: 2007

Journal Articles

Band 3 Courcouronne: Homozygous Mutation Ser667Phe Causes Severe Hereditary Spherocytosis and Incomplete Distal Renal Tubular Acidosis.

Jean Delaunay, MD, PhD, Ashley Toye, BSc PhD, Rosalind Williamson, BSc, Moudji Khanfar, MD, Brigitte Bader-Meunier, MD, Thérèse Cynober, MD, Madeleine Thibault, Gilbert Jean Tchernia, MD, Michèle Déchaux, MD, Lesley Bruce, BSc PhD

Blood (2006) 108 (11): 1563.

https://doi.org/10.1182/blood.V108.11.1563.1563

Published: 2006

Journal Articles

Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload

Carole Beaumont, Jean Delaunay, Gilles Hetet, Bernard Grandchamp, Mariane de Montalembert, Gil Tchernia

Blood (2006) 107 (10): 4168–4170.

https://doi.org/10.1182/blood-2005-10-4269

Published: 2006

Includes: Supplemental data

Journal Articles

Proteasome Inhibitors Restore to Normal the Decreased Levels of Protein Expression and Nucleolar Localization of Various Mutant Ribosomal S19 Proteins Identified in DBA Patients.

Aurore Cretien, Alexis Proust, Hanna Gazda, MD, PhD, Jorg Meerpohl, MD, Charlotte Marie Niemeyer, MD, PhD, Jean Delaunay, MD, PhD, Gil Tchernia, MD, Mohandas Narla, MD, PhD, Lydie Da Costa, MD, PhD

Blood (2005) 106 (11): 185.

https://doi.org/10.1182/blood.V106.11.185.185

Published: 2005

Journal Articles

Two New Human DMT1 Mutations in a Compound Heterozygous Patient with Microcytic Anemia and Low Iron Stores.

Carole Beaumont, PhD, Jean Delaunay, MD, PhD, Gilles Hetet, Mariane de Montalembert, MD, Bernard Grandchamp, MD, PhD, Gilbert J. Tchernia, MD, PhD

Blood (2005) 106 (11): 3540.

https://doi.org/10.1182/blood.V106.11.3540.3540

Published: 2005

Journal Articles

The First Homozygous RPS19 Mutation Identified in a Diamond-Blackfan Anemia Patient Is Not Deleterious.

Aurore Cretien, Patricia Rince, Thierry Leblanc, MD, Rolande Ducrocq, MD, Alexis Proust, Isabelle Marie, Jean Delaunay, MD, PhD, Mohandas Narla, MD, PhD, Gil Tchernia, MD, Lydie Da Costa, MD, PhD

Blood (2005) 106 (11): 3548.

https://doi.org/10.1182/blood.V106.11.3548.3548

Published: 2005

Journal Articles

Protein-4.2 association with band 3 (AE1, SLCA4) in Xenopus oocytes: effects of three natural protein-4.2 mutations associated with hemolytic anemia

Ashley M. Toye, Sandip Ghosh, Mark T. Young, Graham K. Jones, Richard B. Sessions, Martine Ramaugé, Philippe Leclerc, Joyoti Basu, Jean Delaunay, Michael J. A. Tanner

Blood (2005) 105 (10): 4088–4095.

https://doi.org/10.1182/blood-2004-05-1895

Published: 2005

Includes: Supplemental data

Journal Articles

Molecular Basis of Congenital Dyserythropoietic Anemia Type I in French Patients.

Hannah Tamary, MD, Orly Dgany, PhD, Alexis Proust, MSc, Tanya Krasnov, MSc, Nili Avidan, PhD, Gil Tchernia, MD, David Geneviève, MD, Valérie Comier-Darre, MD, Martine Le Merrer, MD, Brigitte Bader-Meunier, MD, Corinne Ferrero-Vacher, MD, Isaac Yaniv, MD, Jean Delaunay, MD

Blood (2004) 104 (11): 3709.

https://doi.org/10.1182/blood.V104.11.3709.3709

Published: 2004

Journal Articles

A band 3–based macrocomplex of integral and peripheral proteins in the RBC membrane

Lesley J. Bruce, Roland Beckmann, M. Leticia Ribeiro, Luanne L. Peters, Joel A. Chasis, Jean Delaunay, Narla Mohandas, David J. Anstee, Michael J.A. Tanner

Blood (2003) 101 (10): 4180–4188.

https://doi.org/10.1182/blood-2002-09-2824

Published: 2003

Journal Articles

Evidence that the red cell skeleton protein 4.2 interacts with the Rh membrane complex member CD47: Presented in part at the 43rd Annual Meeting of the American Society of Hematology, Orlando, FL, December 7-11, 2001. 46

Isabelle Mouro-Chanteloup, Jean Delaunay, Pierre Gane, Virginie Nicolas, Mette Johansen, Eric J. Brown, Luanne L. Peters, Caroline Le Van Kim, Jean Pierre Cartron, Yves Colin

Blood (2003) 101 (1): 338–344.

https://doi.org/10.1182/blood-2002-04-1285

Published: 2003

Journal Articles

A splicing alteration of 4.1R pre-mRNA generates 2 protein isoforms with distinct assembly to spindle poles in mitotic cells

François Delhommeau, Corinne Vasseur-Godbillon, Philippe Leclerc, Pierre-Olivier Schischmanoff, Laure Croisille, Patricia Rince, Madeleine Morinière, Edward J. Benz, Jr, Gil Tchernia, Gabriel Tamagnini, Leticia Ribeiro, Jean Delaunay, Faouzi Baklouti

Blood (2002) 100 (7): 2629–2636.

https://doi.org/10.1182/blood.V100.7.2629

Published: 2002

Journal Articles

Absence of CD47 in protein 4.2–deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex: Presented at the 43rd Annual Meeting of the American Society of Hematology, Orlando, FL, December 7-11, 2001, and abstract published in Blood. 2001;98:(suppl1):10a.

Lesley J. Bruce, Sandip Ghosh, May Jean King, D. Mark Layton, William J. Mawby, Gordon W. Stewart, Per-Arne Oldenborg, Jean Delaunay, Michael J. A. Tanner

Blood (2002) 100 (5): 1878–1885.

https://doi.org/10.1182/blood-2002-03-0706

Published: 2002

NARROW

Homozygous Southeast Asian ovalocytosis is a severe dyserythropoietic anemia associated with distal renal tubular acidosis

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

Missense Mutations in the ABCB6 Transporter Cause Dominant Familial Pseudohyperkalemia

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1 : a novel form of GLUT1 deficiency syndrome

The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein

Alterations in the band3/Rh Protein Complex in Erythrocyte Membranes of Protein 4.2 (Chartres) deficient Cells Occur Late during Erythropoiesis

Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A

Two Distinct Mechanisms Are Responsible for Regulation of Ribosomal Protein S19 Expression Level in Diamond-Blackfan Anemia by NF-κB Pathway.

Induction of GLUT1 during Erythropoiesis Triggers a Switch from Glucose to DHA Uptake in Vitamin C-Defective Mammals.

Band 3 Courcouronne: Homozygous Mutation Ser667Phe Causes Severe Hereditary Spherocytosis and Incomplete Distal Renal Tubular Acidosis.

Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload

Proteasome Inhibitors Restore to Normal the Decreased Levels of Protein Expression and Nucleolar Localization of Various Mutant Ribosomal S19 Proteins Identified in DBA Patients.

Two New Human DMT1 Mutations in a Compound Heterozygous Patient with Microcytic Anemia and Low Iron Stores.

The First Homozygous RPS19 Mutation Identified in a Diamond-Blackfan Anemia Patient Is Not Deleterious.

Protein-4.2 association with band 3 (AE1, SLCA4) in Xenopus oocytes: effects of three natural protein-4.2 mutations associated with hemolytic anemia

Molecular Basis of Congenital Dyserythropoietic Anemia Type I in French Patients.

A band 3–based macrocomplex of integral and peripheral proteins in the RBC membrane

Evidence that the red cell skeleton protein 4.2 interacts with the Rh membrane complex member CD47: Presented in part at the 43rd Annual Meeting of the American Society of Hematology, Orlando, FL, December 7-11, 2001. 46

A splicing alteration of 4.1R pre-mRNA generates 2 protein isoforms with distinct assembly to spindle poles in mitotic cells

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American Society of Hematology

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American Society of Hematology

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