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Journal Articles

Survival Outcomes Following Allogeneic Stem Cell Transplantation for Inherited Bone Marrow Failure and Myeloid Germline Predisposition Syndromes

Kalyan Nadiminti, Abhishek A Mangaonkar, MBBS, Kimberly J. Langer, D.N.P., C.N.P., Shakila P Khan, MD, Vilmarie Rodriguez, MD, Naseema Gangat, MBBS, Michelle A Elliott, MD, Hassan B. Alkhateeb, MD, Mithun Vinod Shah, MD PhD, Mark Litzow, MD, William J Hogan, MB, BCh, Saad S. Kenderian, MD, Mrinal M Patnaik, MDMBBS

Blood (2019) 134 (Supplement_1): 3300.

https://doi.org/10.1182/blood-2019-121742

Published: 2019

Journal Articles

Inducible SBDS Deficiency and Germline FANCC/FANCG Deficiency Differentially Impact the Capacity of Bone Marrow Niches to Engraft Hematopoietic Stem Cells after Transplantation

Ji Zha, PhD BS, Lori Kunselman, Jian-Meng Fan, Timothy S. Olson, MD PhD

Blood (2017) 130 (Supplement 1): 1170.

https://doi.org/10.1182/blood.V130.Suppl_1.1170.1170

Published: 2017

Journal Articles

A Pilot Trial of Unmatched Human Placenta-Derived Stem Cells (HPDSCs) in Conjunction with Unrelated Cord Blood Transplantation (UCBT) in Children and Young Adults with Malignant and Non-Malignant Disease (IND 14949)

Blood (2016) 128 (22): 4671.

https://doi.org/10.1182/blood.V128.22.4671.4671

Published: 2016

Journal Articles

In Vitro Functional Rescue of a Double MPL K39N/W272R Mutant Associated with Congenital Amegakaryocytic Thrombocytopenia (CAMT) Using Crispr/Cas9

Cédric Cleyrat, PhD, Romain Girard, M.S., Éric Jeziorski, MD, Thierry Lavabre-Bertrand, PhD, Sylvie Hermouet, MD, PhD, Serge Carillo, PhD, Bridget S. Wilson, PhD

Blood (2015) 126 (23): 1207.

https://doi.org/10.1182/blood.V126.23.1207.1207

Published: 2015

Journal Articles

Thrombopoietin (TPO) Induces Hematopoietic Differentiation of Mouse ES Cells Via HIF-1 Alpha-Dependent Activation of a BMP4 Autoregulatory Loop

Azadeh Zahabi, Tatsuya Morishima, MD PhD, Andri Pramono, Dan Lan, Lothar Kanz, MD, Karl Welte, MD, Julia Skokowa, Prof. Dr.

Blood (2015) 126 (23): 1186.

https://doi.org/10.1182/blood.V126.23.1186.1186

Published: 2015

Journal Articles

Platelet Transmission Electron Microscopy and Flow Cytometry in the Diagnosis of Congenital/Hereditary Qualitative or Quantitative Platelet Disorders

Juliana Perez Botero, MD, Laynalee K Cardel, MT, Aneel A. Ashrani, MBBS, MSc, John A. Heit, MD, Rong He, MD, C Christopher Hook, MD, Robert D McBane, II, MD, Animesh Pardanani, MBBS, PhD, Deepti M. Warad, M.B.B.S., Waldemar E Wysokinski, MD PhD, Vilmarie Rodriguez, MD, William L. Nichols, Jr., MD, Rajiv K. Pruthi, MBBS, Dong Chen, MD PhD, Mrinal M Patnaik, MBBS

Blood (2015) 126 (23): 3476.

https://doi.org/10.1182/blood.V126.23.3476.3476

Published: 2015

Journal Articles

Matched Unrelated Allogeneic Stem Cell Transplantation for Patients with Congenital Amegakaryocytic Thrombocytopenia: Texas Children`s Hospital Experience

Saleh Bhar, MD, Khaled Yassine, MD, Caridad Martinez, MD, Ghadir S. Sasa, MD, Swati Naik, MD, Donald Mahoney, Jr., MD, Alison A Bertuch, MD PhD, Carl Allen, MD PhD, Nabil Ahmed, MD, Meenakshi G. Hegde, MD, Helen E. Heslop, MD, Malcolm K. Brenner, MD PhD, Stephen Gottschalk, MD, Robert A. Krance, MD, Kathryn S. Leung

Blood (2015) 126 (23): 5529.

https://doi.org/10.1182/blood.V126.23.5529.5529

Published: 2015

Journal Articles

In Newborn Mice, Tpo Signaling Is Required for Normal Megakaryocyte Proliferation, Maturation, Platelet Formation, and Platelet Survival

Haley Ramsey, PhD, Francesca Ferrer-Marin, MD, Renata Grozovsky, PhD, Hoffmeister Karin, MD, Joseph E. Italiano, PhD, Zhongbo Hu, MD PhD, William B. Slayton, MD, Martha Sola-Visner, MD

Blood (2014) 124 (21): 572.

https://doi.org/10.1182/blood.V124.21.572.572

Published: 2014

Journal Articles

HLA Haploidentical Stem Cell Transplantation After Removal of αβ + T Lymphocytes and B Lymphocytes Is an Effective Treatment for Children with Life-Threatening, Non-Malignant Disorders

Alice Bertaina, MD, Mariateresa Romano, MD, Sergio Rutella, MD PhD, Giuseppe Palumbo, MD, Daria Pagliara, MD, Stefano Ceccarelli, MD, Letizia P Brescia, MD, Giuseppina Li Pira, BSc, Francesca Cocca, MD, Maria Ester Bernardo, MD, Giuseppe M Milano, MD, Daniela Pende, PhD, Michela Falco, BSc, Lorenzo Moretta, MD, Franco Locatelli, MD, PhD

Blood (2012) 120 (21): 2018.

https://doi.org/10.1182/blood.V120.21.2018.2018

Published: 2012

Journal Articles

Retroviral Ectopic Expression of a Signaling-Defective Thrombopoietin Receptor (Mpl) Induces a Systemic Loss of Hematopoietic Stem Cells in Mice,

Sabine Wintterle, MD, Dirk Heckl, PhD, Adrian Schwarzer, MD, Guntram Buesche, MD, Christopher Baum, MD, Ute Modlich, DVM, PhD

Blood (2011) 118 (21): 4175.

https://doi.org/10.1182/blood.V118.21.4175.4175

Published: 2011

Journal Articles

Modeling Congenital Amegakaryocytic Thrombocytopenia Using Patient-Specific Induced Pluripotent Stem Cells

Naoya Takayama, M.D., Ph.D., Shinji Hirata, Ryoko Jono-Ohnishi, Sou Nakamura, Sho-ichi Hirose, Hiroshi Endo, M.D., Masanori Nishi, MD, Yuhei Hamazaki, Shin Kaneko, M.D., Ph.D., Eiichi Ishii, MD, PhD, Hiromitsu Nakauchi, MD, PhD, Shinji Kunishima, PhD, Koji Eto, M.D., Ph.D.

Blood (2011) 118 (21): 703.

https://doi.org/10.1182/blood.V118.21.703.703

Published: 2011

Journal Articles

Neonatal Megakaryocytes Do Not Mature Normally In the Absence of Thrombopoietin In Vivo: Potential Role of Developmental Differences In CXCR4 Expression

Francisca Ferrer-Marin, MD, PhD, Ravi K. Gutti, Ph.D., Zhi-Jian Liu, Ph.D., Joseph Italiano, Ph.D., Zhongbo Hu, MD, PhD, William Slayton, MD, Martha Sola-Visner, MD

Blood (2010) 116 (21): 88.

https://doi.org/10.1182/blood.V116.21.88.88

Published: 2010

Journal Articles

Incomplete restoration of Mpl expression in the mpl −/− mouse produces partial correction of the stem cell–repopulating defect and paradoxical thrombocytosis

Brian J. Lannutti, Angela Epp, Jacqueline Roy, Junmei Chen, Neil C. Josephson

Blood (2009) 113 (8): 1778–1785.

https://doi.org/10.1182/blood-2007-11-124859

Published: 2009

Includes: Supplemental data

Journal Articles

Frequency and Natural History of Inherited Bone Marrow Failure Syndromes: The Israeli Inherited Bone Marrow Failure Registry

Hannah Tamary, MD, Daniella Nishri, MD, Joanne Yacobovich, MD, Rama Zilber, RN, Shraga Aviner, MD, PhD, Polina Stepensky, MD, Shoshana S Vilk- Ravel, Menachem Bitan, Chaim Kaplinsky, MD, Ayelet Ben Barak, MD, Joseph Kapelusnik, MD, Ariel Koren, MD, Carina Levin, MD, Isaac Yaniv, MD, Philip S Rosenberg, PhD, Blanche P. Alter, MD

Blood (2008) 112 (11): 1045.

https://doi.org/10.1182/blood.V112.11.1045.1045

Published: 2008

Journal Articles

Ectopic Expression of the Extracellular Domain of Mpl Is Sufficient to Induce a Hematopoietic Population Crisis

Daniel C. Wicke, Johann Meyer, Guntram Büsche, MD, Hans Kreipe, MD, Zhixiong Li, MD, Karl Welte, Matthias Ballmaier, Christopher Baum, Ute Modlich

Blood (2008) 112 (11): 2886.

https://doi.org/10.1182/blood.V112.11.2886.2886

Published: 2008

Journal Articles

Erythropoietin Stimulates Thrombopoiesis in the Absence of C-Mpl Signaling

Norma E Fox, BSc, Rose Chen, BSc, Ian Hitchcock, PhD, Kenneth Kaushansky, MD, Amy Geddis, MD, PhD

Blood (2008) 112 (11): 2451.

https://doi.org/10.1182/blood.V112.11.2451.2451

Published: 2008

Journal Articles

Serial Analysis of Hematopoietic Progenitors in Mpl −/− Mice.

Janet Kaffanke, PhD, Manuela Germeshausen, PhD, Karl Welte, MD, Matthias Ballmaier, PhD

Blood (2007) 110 (11): 2100.

https://doi.org/10.1182/blood.V110.11.2100.2100

Published: 2007

Journal Articles

Studies of c-Mpl Function Distinguish the Survival and Proliferation of Hematopoietic Stem Cells (HSC) from the Expansion of Differentiating Clones.

Janis L. Abkowitz, MD, Jing Chen, MD

Blood (2006) 108 (11): 1350.

https://doi.org/10.1182/blood.V108.11.1350.1350

Published: 2006

Journal Articles

Unusual Bone Marrow Findings in a Patient with Congenital Amegakaryocytic Thrombocytopenia.

Melissa J. Rose, DO, Kathleen K. Nicol, MD, Thomas G. Gross, MD, PhD, Bryce A. Kerlin, MD

Blood (2006) 108 (11): 1109.

https://doi.org/10.1182/blood.V108.11.1109.1109

Published: 2006

Journal Articles

Congenital Amegakaryocytic Thrombocytopenia in a Thrombocytopenic Child Presenting without Amegakaryocytosis.

Amy Geddis, MD, PhD, Norma Fox, Hung Nguyen, Jennifer Keates-Baleeiro, MD, Haydar Frangoul, MD

Blood (2006) 108 (11): 1110.

https://doi.org/10.1182/blood.V108.11.1110.1110

Published: 2006

NARROW

Survival Outcomes Following Allogeneic Stem Cell Transplantation for Inherited Bone Marrow Failure and Myeloid Germline Predisposition Syndromes

Inducible SBDS Deficiency and Germline FANCC/FANCG Deficiency Differentially Impact the Capacity of Bone Marrow Niches to Engraft Hematopoietic Stem Cells after Transplantation

A Pilot Trial of Unmatched Human Placenta-Derived Stem Cells (HPDSCs) in Conjunction with Unrelated Cord Blood Transplantation (UCBT) in Children and Young Adults with Malignant and Non-Malignant Disease (IND 14949)

In Vitro Functional Rescue of a Double MPL K39N/W272R Mutant Associated with Congenital Amegakaryocytic Thrombocytopenia (CAMT) Using Crispr/Cas9

Thrombopoietin (TPO) Induces Hematopoietic Differentiation of Mouse ES Cells Via HIF-1 Alpha-Dependent Activation of a BMP4 Autoregulatory Loop

Platelet Transmission Electron Microscopy and Flow Cytometry in the Diagnosis of Congenital/Hereditary Qualitative or Quantitative Platelet Disorders

Matched Unrelated Allogeneic Stem Cell Transplantation for Patients with Congenital Amegakaryocytic Thrombocytopenia: Texas Children`s Hospital Experience

In Newborn Mice, Tpo Signaling Is Required for Normal Megakaryocyte Proliferation, Maturation, Platelet Formation, and Platelet Survival

HLA Haploidentical Stem Cell Transplantation After Removal of αβ + T Lymphocytes and B Lymphocytes Is an Effective Treatment for Children with Life-Threatening, Non-Malignant Disorders

Retroviral Ectopic Expression of a Signaling-Defective Thrombopoietin Receptor (Mpl) Induces a Systemic Loss of Hematopoietic Stem Cells in Mice,

Modeling Congenital Amegakaryocytic Thrombocytopenia Using Patient-Specific Induced Pluripotent Stem Cells

Neonatal Megakaryocytes Do Not Mature Normally In the Absence of Thrombopoietin In Vivo: Potential Role of Developmental Differences In CXCR4 Expression

Incomplete restoration of Mpl expression in the mpl −/− mouse produces partial correction of the stem cell–repopulating defect and paradoxical thrombocytosis

Frequency and Natural History of Inherited Bone Marrow Failure Syndromes: The Israeli Inherited Bone Marrow Failure Registry

Ectopic Expression of the Extracellular Domain of Mpl Is Sufficient to Induce a Hematopoietic Population Crisis

Erythropoietin Stimulates Thrombopoiesis in the Absence of C-Mpl Signaling

Serial Analysis of Hematopoietic Progenitors in Mpl −/− Mice.

Studies of c-Mpl Function Distinguish the Survival and Proliferation of Hematopoietic Stem Cells (HSC) from the Expansion of Differentiating Clones.

Unusual Bone Marrow Findings in a Patient with Congenital Amegakaryocytic Thrombocytopenia.

Congenital Amegakaryocytic Thrombocytopenia in a Thrombocytopenic Child Presenting without Amegakaryocytosis.

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American Society of Hematology

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American Society of Hematology

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