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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

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome

Blood (2018) 132 (12): 1318–1331.

https://doi.org/10.1182/blood-2017-12-820308

Published: 2018

Includes: Supplemental data

Journal Articles

Starvation Stress in the Sbds -Null Zebrafish: Implications for Human Shwachman-Diamond Syndrome

Usua Oyarbide, PhD, Wilmer Amaya-Mejia, BS, Michael Waters, BS, Jacek Topczewski, PhD, Seth Corey, MD

Blood (2017) 130 (Supplement 1): 2459.

https://doi.org/10.1182/blood.V130.Suppl_1.2459.2459

Published: 2017

Journal Articles

Mutations in SRP54 Gene Cause Severe Primary Neutropenia As Well As Shwachman-Diamond-like Syndrome

Blood (2017) 130 (Supplement 1): LBA-3.

https://doi.org/10.1182/blood.V130.Suppl_1.LBA-3.LBA-3

Published: 2017

Journal Articles

Further Insights into the Hematological Disorders Observed in Shwachman-Diamond Syndrome: mTOR and STAT3 Hyper-Phosphorylation in CD4+ and CD8+ T Cells and Efficacy of Rapamycin Treatment

Valentino Bezzerri, PhD, Antonio Vella, Ilaria Meneghelli, Marco Cipolli, Claudio Sorio, MD PhD

Blood (2016) 128 (22): 2675.

https://doi.org/10.1182/blood.V128.22.2675.2675

Published: 2016

Journal Articles

Large Granular Lymphocyte Infiltration in the Bone Marrow in Children and Young Adults May Suggest Primary Immune Deficiency

Mervi H Taskinen, MD PhD, Satu Mustjoki, MD PhD, Kirsi Jahnukainen, MD PhD, Luca Trotta, MSc, Timo Siitonen, MD PhD, Timo Hautala, MD PhD, Andrey Zavialov, PhD, Kaarina Heiskanen, MD PhD, Emma M Haapaniemi, MD PhD, Janna Saarela, MD PhD, Mikko Seppänen, MD PhD

Blood (2015) 126 (23): 1024.

https://doi.org/10.1182/blood.V126.23.1024.1024

Published: 2015

Journal Articles

A Novel Radiosensitivity Phenotype in Shwachman-Diamond Syndrome Is Mediated By ER Stress Response

Nimrat Chatterjee, PhD, Christopher Lee Williams, B.S., Saleh Bhar, MD, Alison A Bertuch, MD PhD

Blood (2015) 126 (23): 3618.

https://doi.org/10.1182/blood.V126.23.3618.3618

Published: 2015

Journal Articles

Genetic Ablation of Sbds in Zebrafish Results in Neutropenia, Diminished Growth, and Reduced Viability, Indicating Its Roles in Embryonic and Post-Embryonic Development

Usua Oyarbide, PhD, Margaret J Kell, Javier Farinas, BS, Rachel Hartig, Jacek Topczewski, PhD, Seth J. Corey, MD MPH

Blood (2015) 126 (23): 3607.

https://doi.org/10.1182/blood.V126.23.3607.3607

Published: 2015

Journal Articles

Suppression of the Hematopoietic Defect in TF-1 Cells Depleted of Shwachman-Diamond Syndrome Protein: Correlation with Decreased eIF6 Levels

Sharon Singh, MD, Lionel Blanc, PhD, Adrianna Henson, Gulay Sezgin, MD, Steven R Ellis, PhD, Johnson M. Liu, MD

Blood (2012) 120 (21): 1270.

https://doi.org/10.1182/blood.V120.21.1270.1270

Published: 2012

Journal Articles

Knockdown of Shwachman-Diamond Syndrome Gene, SBDS , Induces Increased Expression of Galectin-1 and Impaired Cell Growth.

Masafumi Yamaguchi, PhD, Kingo Fujimura, Hirokazu Kanegane, MD, PhD, Hanae Toga-Yamaguchi, Naoki Okamura

Blood (2012) 120 (21): 2360.

https://doi.org/10.1182/blood.V120.21.2360.2360

Published: 2012

Journal Articles

Phenotypical and Functional Characterization of Mesenchymal Stem Cells Derived From Patients Affected by Schwachman-Diamond Syndrome

Valentina Andrée, Daniela Longoni, Silvia Bresolin, Geertruy Kronnie, Giovanni Cazzaniga, Laura Sainati, Marco Cipolli, Andrea Biondi, Giovanna D'Amico

Blood (2011) 118 (21): 1336.

https://doi.org/10.1182/blood.V118.21.1336.1336

Published: 2011

Journal Articles

Variable Clinical Phenotype and Course In Greek Patients with Shwachman-Diamond Syndrome Carrying Identical SBDS Mutations

Polyxeni Delaporta, MD, Christalena Sofocleous, Stavros Doudounakis, MD, Marina Economou, MD, Emmanouil Kanavakis, MD, Antonios Kattamis, MD

Blood (2010) 116 (21): 4431.

https://doi.org/10.1182/blood.V116.21.4431.4431

Published: 2010

Journal Articles

Assessment of SBDS Expression Patterns in Human Marrow Hematopoietic and Stromal Cells by Immunohistochemistry and Its Use as a Diagnostic Screen for Schwachman-Diamond Syndrome

Trisha Wong, MD, Monica Calicchio, Mark D. Fleming, MD, DPhil, Akiko Shimamura, MD, PhD, Marian Hester Harris, MD, PhD

Blood (2008) 112 (11): 41.

https://doi.org/10.1182/blood.V112.11.41.41

Published: 2008

Journal Articles

Identification of the SBDS Gene Mutation in Japanese Patients with Bone Marrow Failure Syndrome

Hiroki Yamaguchi, Junko Takeuchi, Hayato Tamai, Yoshio Mitamura, Fumiko Kosaka, Kazuo Dan, Koiti Inokuchi

Blood (2008) 112 (11): 4117.

https://doi.org/10.1182/blood.V112.11.4117.4117

Published: 2008

Journal Articles

Mutations of the SBDS Gene Result in Nuclear Mislocalization.

Masafumi Yamaguchi, PhD, Kingo Fujimura, MD, PhD, Hanae Toga-Yamaguchi, Valentina Svetic, PhD, Naoki Okamura, PhD, Rajesh Chopra, PhD

Blood (2008) 112 (11): 2034.

https://doi.org/10.1182/blood.V112.11.2034.2034

Published: 2008

Journal Articles

Mouse Model for Shwachman-Diamond Syndrome with the R126T Disease Mutation Leads to Severe Growth and Developmental Deficiencies with Impairment of Hematopoiesis.

Siyi Zhang, MSc, Jian Zhong, BSc, Olga I. Gan, PhD, John E. Dick, PhD, Johanna M. Rommens, PhD

Blood (2006) 108 (11): 1283.

https://doi.org/10.1182/blood.V108.11.1283.1283

Published: 2006

Journal Articles

SBDS Protein Plays a Role in Ribosome Biogenesis.

Karthik A. Ganapathi, PhD, Karyn M. Austin, B.A., Maggie Malsch, B.A., Akiko Shimamura, M.D., Ph.D

Blood (2006) 108 (11): 185.

https://doi.org/10.1182/blood.V108.11.185.185

Published: 2006

Journal Articles

The SBDS Gene Regulates Viability of Myeloid Precursor Cells and Is Associated with High ROS Production and Telomere Shortening in the SBDS Downregulated Cells.

Masafumi Yamaguchi, PhD, Kingo Fujimura, MD,PhD, Hanae Toga, Asim Khwaja, MD, Naoki Okamura, PhD, Rajesh Chopra, MD

Blood (2006) 108 (11): 1639.

https://doi.org/10.1182/blood.V108.11.1639.1639

Published: 2006

Journal Articles

Sbds Deficient Neutrophils Exhibit Normal Numbers, Chemotaxis and Phagocytic Functions, but Impaired NADPH Oxidase Activity.

Siyi Zhang, MSc, Chunxian Sun, MSc, Jian Zhong, BSc, Michael Glogauer, DDS,PhD, Johanna M. Rommens, PhD

Blood (2006) 108 (11): 1634.

https://doi.org/10.1182/blood.V108.11.1634.1634

Published: 2006

Journal Articles

Lentiviral-Mediated RNAi Knockdown of SBDS in Murine Hematopoietic Progenitors Impairs Their Engraftment Potential and Granulocytic Differentiation.

Amy S. Rawls, PhD, Jill R. Woloszynek, Daniel C. Link, MD

Blood (2005) 106 (11): 635.

https://doi.org/10.1182/blood.V106.11.635.635

Published: 2005

NARROW

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

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome

Starvation Stress in the Sbds -Null Zebrafish: Implications for Human Shwachman-Diamond Syndrome

Mutations in SRP54 Gene Cause Severe Primary Neutropenia As Well As Shwachman-Diamond-like Syndrome

Further Insights into the Hematological Disorders Observed in Shwachman-Diamond Syndrome: mTOR and STAT3 Hyper-Phosphorylation in CD4+ and CD8+ T Cells and Efficacy of Rapamycin Treatment

Large Granular Lymphocyte Infiltration in the Bone Marrow in Children and Young Adults May Suggest Primary Immune Deficiency

A Novel Radiosensitivity Phenotype in Shwachman-Diamond Syndrome Is Mediated By ER Stress Response

Genetic Ablation of Sbds in Zebrafish Results in Neutropenia, Diminished Growth, and Reduced Viability, Indicating Its Roles in Embryonic and Post-Embryonic Development

Suppression of the Hematopoietic Defect in TF-1 Cells Depleted of Shwachman-Diamond Syndrome Protein: Correlation with Decreased eIF6 Levels

Knockdown of Shwachman-Diamond Syndrome Gene, SBDS , Induces Increased Expression of Galectin-1 and Impaired Cell Growth.

Phenotypical and Functional Characterization of Mesenchymal Stem Cells Derived From Patients Affected by Schwachman-Diamond Syndrome

Variable Clinical Phenotype and Course In Greek Patients with Shwachman-Diamond Syndrome Carrying Identical SBDS Mutations

Assessment of SBDS Expression Patterns in Human Marrow Hematopoietic and Stromal Cells by Immunohistochemistry and Its Use as a Diagnostic Screen for Schwachman-Diamond Syndrome

Identification of the SBDS Gene Mutation in Japanese Patients with Bone Marrow Failure Syndrome

Mutations of the SBDS Gene Result in Nuclear Mislocalization.

Mouse Model for Shwachman-Diamond Syndrome with the R126T Disease Mutation Leads to Severe Growth and Developmental Deficiencies with Impairment of Hematopoiesis.

SBDS Protein Plays a Role in Ribosome Biogenesis.

The SBDS Gene Regulates Viability of Myeloid Precursor Cells and Is Associated with High ROS Production and Telomere Shortening in the SBDS Downregulated Cells.

Sbds Deficient Neutrophils Exhibit Normal Numbers, Chemotaxis and Phagocytic Functions, but Impaired NADPH Oxidase Activity.

Lentiviral-Mediated RNAi Knockdown of SBDS in Murine Hematopoietic Progenitors Impairs Their Engraftment Potential and Granulocytic Differentiation.

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American Society of Hematology

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ASH Publications

American Society of Hematology

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