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Journal Articles

The journey of a thousand miles begins with 1 step

Luca Malcovati

Blood (2021) 138 (10): 824–826.

https://doi.org/10.1182/blood.2021012304

Published: 2021

Journal Articles

Expression of Human SBDS R126T in S bds Null Background Shows Eif6 Dysregulation: An Adult Zebrafish Model for Shwachman-Diamond Syndrome

Usua Oyarbide Cuervas-Mons, PhD MSc, BSc, Matthew Snyderman, MSc, Jacek Topczewski, PhD, Seth J. Corey, MD

Blood (2019) 134 (Supplement_1): 3737.

https://doi.org/10.1182/blood-2019-129014

Published: 2019

Journal Articles

A Signature of Differentially Expressed Micrornas in Lymphoblastoid Cells from Shwachman-Diamond Syndrome Patients Indicates Possible Molecular Targets for Mirna Therapeutics

Jessica Gasparello, PhD, Chiara Papi, Giulia Breveglieri, PhD, Elisabetta D'Aversa, PhD, Valentino Bezzerri, PhD, Giovanna D'Amico, BSc, PhD MSc, Marco Cipolli, MD, Roberto Gambari, PhD, Monica Borgatti, PhD, Alessia Finotti, PhD

Blood (2019) 134 (Supplement_1): 2504.

https://doi.org/10.1182/blood-2019-128607

Published: 2019

Journal Articles

Predictors of Disease Progression and Survival in Patients with Myelodysplastic Syndrome Secondary to Inherited Bone Marrow Failure Syndromes

Blood (2019) 134 (Supplement_1): 2507.

https://doi.org/10.1182/blood-2019-130129

Published: 2019

Journal Articles

Inducible SBDS Deficiency Impairs Bone Marrow Niche Function to Engraft Donor Hematopoietic Stem Cell after Transplantation

Ji Zha, PhD BS, Lori Kunselman, Hongbo Michael Xie, PhD, Brian Ennis, Jian-Meng Fan, Timothy S. Olson, MD PhD

Blood (2019) 134 (Supplement_1): 3199.

https://doi.org/10.1182/blood-2019-121763

Published: 2019

Journal Articles

The Impact of Identifying the Syndromic and Genetic Diagnoses on Hematopoietic Stem Cell Transplantation Outcome in Patients with Inherited Bone Marrow Failure Syndromes

Blood (2019) 134 (Supplement_1): 5015.

https://doi.org/10.1182/blood-2019-121743

Published: 2019

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

Blood (2019) 134 (Supplement_1): 451.

https://doi.org/10.1182/blood-2019-127866

Published: 2019

Journal Articles

Cellular and Molecular Architecture of Hematopoietic Stem Cells and Progenitors in Genetic Models of Bone Marrow Failure

Stephanie C. Heidemann, MD, Brian Bursic, Sasan Zandi, MD PhD, Hongbing Li, PhD, Robert J Klaassen, MD FRCPC, Sharon Abish, MD, Meera Rayar, Vicky R. Breakey, BSc,MDFRCPC, Houtan Moshiri, PhD, Santhosh Dhanraj, PhD, Richard de Borja, PhD, Adam Shlien, PhD, John E. Dick, PhD, Yigal Dror, MDFRCPC, Sagi Abelson, PhD

Blood (2019) 134 (Supplement_1): 1223.

https://doi.org/10.1182/blood-2019-130534

Published: 2019

Journal Articles

Cells Deficient in the Shwachman-Diamond Syndrome Protein SBDS or the Diamond-Blackfan Anemia Protein RPS19 Have Impaired Homologous Recombination

Elif Asik, PhD, Nimrat Chatterjee, PhD, Alison A. Bertuch, MD PhD

Blood (2019) 134 (Supplement_1): 104.

https://doi.org/10.1182/blood-2019-128953

Published: 2019

Journal Articles

Mutation-Specific Dominant Negative Effects Determine the Phenotype in SRP54 D eficiency

Christoph Schuerch, MSc, Thorsten Schaefer, PhD, Joelle S. Müller, MSc, Pauline Hanns, MSc, Jonas Schärer, BSc, Julia Skokowa, MD PhD, Karl Welte, Raphael Carapito, PhD, Seiamak Bahram, MD, Martina Konantz, PhD, Claudia Lengerke, MD

Blood (2019) 134 (Supplement_1): 437.

https://doi.org/10.1182/blood-2019-127007

Published: 2019

Journal Articles

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

Blood (2019) 134 (3): 277–290.

https://doi.org/10.1182/blood.2018893404

Published: 2019

Includes: Supplemental data

Journal Articles

The Shwachman-Diamond Syndrome Registry: Hematologic Complications

Kasiani C. Myers, MD, Elissa Muse Furutani, MD, Sara Loveless, BSN, Maggie Malsch, MSN, RN, Ashley Galvin, Ellie Fratt, Jordan Larson, Jacob Cotton, Leah Cheng, Kelly McIntosh, Joan Moore, RN, Leann Mount, RN, Rabi Hanna, MD, Winfred Wang, MD, Alison A. Bertuch, MD PhD, Stella M. Davies, PhD MBBS, MRCP, Akiko Shimamura, MD PhD

Blood (2018) 132 (Supplement 1): 3871.

https://doi.org/10.1182/blood-2018-99-117582

Published: 2018

Journal Articles

A High-Throughput Screening Approach to Identify Therapeutics for the Treatment of Diamond-Blackfan Anaemia

Lorena Nunez Villacis, Sheren J Al-Obaidi, Piyush Madhamshettiwar, PhD, Nadine Hein, PhD, Jun Chen, MD PhD, Priscilla Soo, Perlita Poh, Megan Pavy, Kaylene J Simpson, PhD, Thomas John Gonda, PhD BSc, Richard B Pearson, PhD, Johan Flygare, MD PhD, Katherine M Hannan, PhD, Amee J George, PhD, Ross Hannan, PhD

Blood (2018) 132 (Supplement 1): 3859.

https://doi.org/10.1182/blood-2018-99-114303

Published: 2018

Journal Articles

Clinical and Genetic Characteristics of Patients with Shwachman-Diamond Syndrome in Japan

Kenichiro Watanabe, MD PhD, Hirokazu Kanegane, MD PhD, Takayuki Hamabata, MD, Kagehiro Kozuki, MD, Katsutsugu Umeda, MD, PhD, Hiroo Ueno, MD, Kenichi Yoshida, MD PhD, Asahito Hama, Yusuke Okuno, MD PhD, Hideki Muramatsu, MD PhD, Yoshiyuki Takahashi, MD, PhD, Daisuke Hasegawa, MD PhD, Atsushi Manabe, MD PhD, Akira Ohara, MD, Masafumi Ito, MD PhD, Seishi Ogawa, MD PhD, Seiji Kojima, MD PhD, Etsuro Ito, MD PhD

Blood (2018) 132 (Supplement 1): 3862.

https://doi.org/10.1182/blood-2018-99-114313

Published: 2018

Journal Articles

Large Genomic Deletions in Shwachman-Diamond Syndrome

Lisa J. McReynolds, MD PhD, Kristine Jones, BS, Kedest Teshome, BS, Alyssa Kennedy, MD PhD, Akiko Shimamura, MD PhD, Neelam Giri, MD, Blanche P. Alter, MD MPH, Sharon A. Savage, MD

Blood (2018) 132 (Supplement 1): 2586.

https://doi.org/10.1182/blood-2018-99-118495

Published: 2018

Journal Articles

Somatic mutations and clonal hematopoiesis in congenital neutropenia

Blood (2018) 131 (4): 408–416.

https://doi.org/10.1182/blood-2017-08-801985

Published: 2018

Includes: Supplemental data

Journal Articles

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

Blood (2017) 130 (Supplement 1): 780.

https://doi.org/10.1182/blood.V130.Suppl_1.780.780

Published: 2017

Journal Articles

The Activated TGFβ Pathway in Shwachman Diamond Syndrome Impairs Hematopoiesis and Is Down-Regulated By Deletion of 7q

Melisa Ruiz-Gutierrez, MD PhD, Cailin Joyce, PhD, Ozge Vargel Bolukbasi, PhD, Andriana Kotini, PhD, Gabriela Alexe, Jennifer Whangbo, MD PhD, David Russell, MDPhD, Kimberly Stegmaier, MD, Carl D. Novina, MD PhD, Eirini P. Papapetrou, MD PhD, Akiko Shimamura, MD

Blood (2017) 130 (Supplement 1): 875.

https://doi.org/10.1182/blood.V130.Suppl_1.875.875

Published: 2017

Journal Articles

Attenuated Protein Synthesis Drives the Hematopoietic Defects in Shwachman-Diamond Syndrome

Pekka Jaako, PhD, Chi C Wong, PhD MD, David Adams, PhD, Alan J. Warren, PhD FRCP, FRCPath

Blood (2017) 130 (Supplement 1): 876.

https://doi.org/10.1182/blood.V130.Suppl_1.876.876

Published: 2017

Journal Articles

Deconstructing Niche Contributions to Bone Marrow Failure and Leukemogenesis in Shwachman-Diamond Syndrome

Marc Hermanus Gerardus Petrus Raaijmakers, MD PhD

Blood (2017) 130 (Supplement 1): SCI-24.

https://doi.org/10.1182/blood.V130.Suppl_1.SCI-24.SCI-24

Published: 2017

NARROW

The journey of a thousand miles begins with 1 step

Expression of Human SBDS R126T in S bds Null Background Shows Eif6 Dysregulation: An Adult Zebrafish Model for Shwachman-Diamond Syndrome

A Signature of Differentially Expressed Micrornas in Lymphoblastoid Cells from Shwachman-Diamond Syndrome Patients Indicates Possible Molecular Targets for Mirna Therapeutics

Predictors of Disease Progression and Survival in Patients with Myelodysplastic Syndrome Secondary to Inherited Bone Marrow Failure Syndromes

Inducible SBDS Deficiency Impairs Bone Marrow Niche Function to Engraft Donor Hematopoietic Stem Cell after Transplantation

The Impact of Identifying the Syndromic and Genetic Diagnoses on Hematopoietic Stem Cell Transplantation Outcome in Patients with Inherited Bone Marrow Failure Syndromes

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

Cellular and Molecular Architecture of Hematopoietic Stem Cells and Progenitors in Genetic Models of Bone Marrow Failure

Cells Deficient in the Shwachman-Diamond Syndrome Protein SBDS or the Diamond-Blackfan Anemia Protein RPS19 Have Impaired Homologous Recombination

Mutation-Specific Dominant Negative Effects Determine the Phenotype in SRP54 D eficiency

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

The Shwachman-Diamond Syndrome Registry: Hematologic Complications

A High-Throughput Screening Approach to Identify Therapeutics for the Treatment of Diamond-Blackfan Anaemia

Clinical and Genetic Characteristics of Patients with Shwachman-Diamond Syndrome in Japan

Large Genomic Deletions in Shwachman-Diamond Syndrome

Somatic mutations and clonal hematopoiesis in congenital neutropenia

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

The Activated TGFβ Pathway in Shwachman Diamond Syndrome Impairs Hematopoiesis and Is Down-Regulated By Deletion of 7q

Attenuated Protein Synthesis Drives the Hematopoietic Defects in Shwachman-Diamond Syndrome

Deconstructing Niche Contributions to Bone Marrow Failure and Leukemogenesis in Shwachman-Diamond Syndrome

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American Society of Hematology

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ASH Publications

American Society of Hematology

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