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Journal Articles

Mammalian VPS45 orchestrates trafficking through the endosomal system

Laura Frey, Natalia Ziętara, Marcin Łyszkiewicz, Benjamin Marquardt, Yoko Mizoguchi, Monika I. Linder, Yanshan Liu, Florian Giesert, Wolfgang Wurst, Maik Dahlhoff, Marlon R. Schneider, Eckhard Wolf, Raz Somech, Christoph Klein

Blood (2021) 137 (14): 1932–1944.

https://doi.org/10.1182/blood.2020006871

Published: 2021

Includes: Multimedia, Supplemental data

Journal Articles

SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing

Christoph Schürch, Thorsten Schaefer, Joëlle S. Müller, Pauline Hanns, Marlon Arnone, Alain Dumlin, Jonas Schärer, Irmgard Sinning, Klemens Wild, Julia Skokowa, Karl Welte, Raphael Carapito, Seiamak Bahram, Martina Konantz, Claudia Lengerke

Blood (2021) 137 (10): 1340–1352.

https://doi.org/10.1182/blood.2020008115

Published: 2021

Includes: Supplemental data

Journal Articles

Efficient Correction of ELANE mutations in Primary HSPCs of Severe Congenital Neutropenia Patients Using CRISPR/Cas9 and rAVV6 HDR Repair Templates

Malte U Ritter, Benjamin Secker, Maksim Klimiankou, Masoud Nasri, MSc, Narges Aghaallaei, Benjamin Dannenmann, Regine Bernhard, Ingeborg Steiert, Karin Haehnel, Baubak Bajoghli, Cornelia Zeidler, Karl Welte, Julia Skokowa, MD PhD

Blood (2019) 134 (Supplement_1): 1036.

https://doi.org/10.1182/blood-2019-131708

Published: 2019

Journal Articles

102 Patients with Primary Autoimmune Neutropenia : An Analysis of the European Severe Chronic Neutropenia International Registry (SCNIR)

Fabian Frömling, Sabine Mellor-Heineke, Natali Gerschmann, Lena Röbbel, Julia Skokowa, MD PhD, Karl Welte, Cornelia Zeidler

Blood (2019) 134 (Supplement_1): 1039.

https://doi.org/10.1182/blood-2019-130031

Published: 2019

Journal Articles

Successful Bone Marrow Transplantation Using an Immunomyelosuppressive Conditioning in Patients with Severe Congenital Neutropenia: The Results of a Single-Institute

Risa Matsumura, Shiho Nishimura, MD, Yoko Mizoguchi, MD PhD, Mizuka Miki, MD, Maki Taniguchi, MD, Maiko Shimomura, MD PhD, Shuhei Karakawa, MD PhD, Shinji Mochizuki, MD PhD, Takehiko Doi, MD PhD, Hiroshi Kawaguchi, MD PhD, Masao Kobayashi, MD PhD

Blood (2019) 134 (Supplement_1): 1035.

https://doi.org/10.1182/blood-2019-126653

Published: 2019

Journal Articles

Gene Editing ELANE in Human Hematopoietic Stem and Progenitor Cells Reveals Disease Mechanisms and Therapeutic Strategies for Severe Congenital Neutropenia

Shuquan Rao, PhD, Josias Brito-Frazao, Anna V. Serbin, Qiuming Yao, PhD, Kevin Luk, Yuxuan Wu, PhD, Jing Zeng, MD, Chunyan Ren, PhD, Ruth Watkinson, Myriam Armant, PhD, Luca Pinello, PhD, Akiko Shimamura, MD PhD, Benhur Lee, Scot A. Wolfe, PhD, Peter E. Newburger, MD, Daniel E. Bauer, MD PhD

Blood (2019) 134 (Supplement_1): 3.

https://doi.org/10.1182/blood-2019-131073

Published: 2019

Journal Articles

Alternative Donor and Disease-Specific Conditioning Regimen Hematopoietic Stem Cell Transplantation for Inherited Bone Marrow Failure Syndromes

Fang Xu, Min Xiong, Ruijuan Sun, Yanli Zhao, Jianping Zhang, Xingyu Cao, Deyan Liu, Zhijie Wei, Jiarui Zhou, Yue Lu, Peihua Lu, Daopei Lu

Blood (2019) 134 (Supplement_1): 2047.

https://doi.org/10.1182/blood-2019-125695

Published: 2019

Journal Articles

Machine Learning Unveils Proteotypic Mimicry in Genetically Defined SCN Variants

Sebastian Hesse, MD, Christoph Klein, MD PhD, Rappsilber Juri, Prof., Yoko Mizoguchi, Monika Linder, PhD, Piotr Grabowski, PhD, Zahra Alizadeh, PhD, Zahra Pourpak, MD PhD, Nima Rezaei, MD PhD, Sorin Iurian, MD PhD, Ekrem Unal, MD, Fabian Hauck, MD PhD, Ralf Zimmer, Prof., Gergely Csaba, PhD

Blood (2019) 134 (Supplement_1): 3580.

https://doi.org/10.1182/blood-2019-131136

Published: 2019

Journal Articles

Quality of Life and Patient Reported Outcomes in Severe Chronic Neutropenia

Thomas F. Michniacki, MD, Lauren E. Merz, MDMSc, Harlan McCaffrey, MA MS, James A. Connelly, MD, Kelly J. Walkovich, MD

Blood (2019) 134 (Supplement_1): 3449.

https://doi.org/10.1182/blood-2019-126808

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

New Germline Syndrome Discovery: Heterozygous CSF3R Mutations May Predispose to Myeloid and Lymphoid Malignancies

Amy M Trottier, MDBSc,MSc, Ira L Kraft, MD, Lawrence J Druhan, PhD, Amanda Lance, MS, Belinda R Avalos, MD, Lucy A Godley, MD PhD

Blood (2019) 134 (Supplement_1): 2543.

https://doi.org/10.1182/blood-2019-129492

Published: 2019

Journal Articles

Disease Modeling of Severe Congenital Neutropenia Using CRISPR/Cas9 Gene Correction or Knockout of ELANE in Patients Derived Induced Pluripotent Stem Cells

Masoud Nasri, MSc, Benjamin Dannenmann, Perihan Mir, Malte U Ritter, Diana Amend, Yun Xu, Maksim Klimiankou, Cornelia Zeidler, Karl Welte, Julia Skokowa, MD PhD

Blood (2019) 134 (Supplement_1): 434.

https://doi.org/10.1182/blood-2019-129991

Published: 2019

Journal Articles

Hax1 Is Indispensable for Neutrophil Development in Zebrafish

Larissa Doll, Narges Aghaallaei, Karl Welte, Julia Skokowa, MD PhD, Baubak Bajoghli

Blood (2019) 134 (Supplement_1): 436.

https://doi.org/10.1182/blood-2019-130226

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

Heterozygous Mutations of Clpb As a Newly Identified and Frequent Cause of Severe Congenital Neutropenia

Julia T Warren, MD PhD, Peeradol Wattanasirakul, David H Spencer, MD, Adam Locke, PhD, Vahagn Makaryan, MD, Audrey Anna Bolyard, RN, BS, Karl Welte, Julia Skokowa, MD PhD, David C. Dale, MD, Daniel C. Link, MD

Blood (2019) 134 (Supplement_1): 433.

https://doi.org/10.1182/blood-2019-129635

Published: 2019

Journal Articles

CRISPR/Cas9 Mediated ELANE Knock-out Restores Survival and Granulocytic Differentiation of HL60 Cells Expressing Mutant Neutrophil Elastase: Is Neutrophil Elastase a Dispensible Granulocyte Protease?

Vahagn Makaryan, MD, Isabella N. Archibald, Merideth L. Kelley, MS, Breanna Fletcher, BSc, David C. Dale, MD

Blood (2019) 134 (Supplement_1): 435.

https://doi.org/10.1182/blood-2019-124988

Published: 2019

Journal Articles

Inducible Expression of Mutant ELANE Correlates with Disruption of Differentiation Program, but Not the Unfolded Protein Response

Bhavuk Garg, PhD, Hrishikesh M Mehta, PhD, Ralph Kamel, Marshall S. Horwitz, MD PhD, Seth J. Corey, MD

Blood (2019) 134 (Supplement_1): 103.

https://doi.org/10.1182/blood-2019-127409

Published: 2019

Journal Articles

Active DNA Demethylation Mediated By GADD45β Is Essential during G-CSF Triggered Granulocytic Differentiation

Perihan Mir, Maksim Klimiankou, Narges Aghaallaei, Betuel Findik, Frederic Thalheimer, Susanne Wingert, Michael A. Rieger, Thomas Thumberger, Cornelia Zeidler, Baubak Bajoghli, Karl Welte, Julia Skokowa, MD PhD

Blood (2019) 134 (Supplement_1): 211.

https://doi.org/10.1182/blood-2019-128508

Published: 2019

Journal Articles

PML Plays a Key Role in Severe Congenital Neutropenia with Mutant ELANE Causing Neutrophil Elastase Protein Misfolding

Patricia Olofsen, MSc, Paulette van Strien, BSc, Onno Roovers, BSc, Hans De Looper, BSc, Remco Hoogenboezem, MSc, Dennis Bosch, BSc, Mehrnaz Ghazvini, PhD, Eric Bindels, PhD, Emma De Pater, PhD, Ivo Touw, PhD

Blood (2019) 134 (Supplement_1): 213.

https://doi.org/10.1182/blood-2019-122423

Published: 2019

Journal Articles

Defects in Signal Recognition Particle (SRP) Components Reveal an Essential and Non-Redundant Role for Granule Biogenesis and Differentiation of Neutrophil Granulocytes

Blood (2019) 134 (Supplement_1): 216.

https://doi.org/10.1182/blood-2019-130083

Published: 2019

NARROW

Mammalian VPS45 orchestrates trafficking through the endosomal system

SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing

Efficient Correction of ELANE mutations in Primary HSPCs of Severe Congenital Neutropenia Patients Using CRISPR/Cas9 and rAVV6 HDR Repair Templates

102 Patients with Primary Autoimmune Neutropenia : An Analysis of the European Severe Chronic Neutropenia International Registry (SCNIR)

Successful Bone Marrow Transplantation Using an Immunomyelosuppressive Conditioning in Patients with Severe Congenital Neutropenia: The Results of a Single-Institute

Gene Editing ELANE in Human Hematopoietic Stem and Progenitor Cells Reveals Disease Mechanisms and Therapeutic Strategies for Severe Congenital Neutropenia

Alternative Donor and Disease-Specific Conditioning Regimen Hematopoietic Stem Cell Transplantation for Inherited Bone Marrow Failure Syndromes

Machine Learning Unveils Proteotypic Mimicry in Genetically Defined SCN Variants

Quality of Life and Patient Reported Outcomes in Severe Chronic Neutropenia

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

New Germline Syndrome Discovery: Heterozygous CSF3R Mutations May Predispose to Myeloid and Lymphoid Malignancies

Disease Modeling of Severe Congenital Neutropenia Using CRISPR/Cas9 Gene Correction or Knockout of ELANE in Patients Derived Induced Pluripotent Stem Cells

Hax1 Is Indispensable for Neutrophil Development in Zebrafish

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

Heterozygous Mutations of Clpb As a Newly Identified and Frequent Cause of Severe Congenital Neutropenia

CRISPR/Cas9 Mediated ELANE Knock-out Restores Survival and Granulocytic Differentiation of HL60 Cells Expressing Mutant Neutrophil Elastase: Is Neutrophil Elastase a Dispensible Granulocyte Protease?

Inducible Expression of Mutant ELANE Correlates with Disruption of Differentiation Program, but Not the Unfolded Protein Response

Active DNA Demethylation Mediated By GADD45β Is Essential during G-CSF Triggered Granulocytic Differentiation

PML Plays a Key Role in Severe Congenital Neutropenia with Mutant ELANE Causing Neutrophil Elastase Protein Misfolding

Defects in Signal Recognition Particle (SRP) Components Reveal an Essential and Non-Redundant Role for Granule Biogenesis and Differentiation of Neutrophil Granulocytes

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ASH Publications

American Society of Hematology

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ASH Publications

American Society of Hematology

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