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Journal Articles

Hyperstable SGK1 steps out of AKT’s shadow

Franziska Gehringer, Alexey Ushmorov

Blood (2021) 138 (11): 917–918.

https://doi.org/10.1182/blood.2021012518

Published: 2021

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

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

Somatic Mutations and Loss of Heterozygosity of HLA Genes Are Frequently Occurred and Tightly Associated with Poor Prognosis in Adult T Cell Leukemia-Lymphoma

Keita Tamaki, MD, Satoko Morishima, MD PhD, Shingo Suzuki, PhD, Atsuko Shigenari, Ikumi Nomura, Yutaro Yokota, Kazuho Morichika, MD, Yukiko Nishi, MD PhD, Sawako Nakachi, MD PhD, Shiki Okamoto, PhD, Kennosuke Karube, MD PhD, Takuya Fukushima, MD PhD, Takashi Shiina, PhD, Hiroaki Masuzaki, MD PhD

Blood (2019) 134 (Supplement_1): 2785.

https://doi.org/10.1182/blood-2019-128070

Published: 2019

Journal Articles

Characterizing Dyskeratosis Congenita Caused By Parn Mutations in the Zebrafish

Anna Cordeiro, PhD, Adam P Deveau, MSc, Santhosh Dhanraj, PhD, Yigal Dror, MDFRCPC, Jason Berman, MD

Blood (2019) 134 (Supplement_1): 3744.

https://doi.org/10.1182/blood-2019-130147

Published: 2019

Journal Articles

MPO as a Novel Susceptibility Gene in Myeloid Malignancies

Samuel Li, BA, Ruipeng Wei, Janet Wang, Undergraduate, Vera Adema, PhD, Teodora Kuzmanovic, BA, Bartlomiej P. Przychodzen, Yasunobu Nagata, MD PhD, Cassandra M Kerr, MS, Babal K. Jha, PhD, Francesc Sole, PhD, Torsten Haferlach, MD, Jaroslaw P. Maciejewski, MD PhD, Thomas Laframboise, PhD

Blood (2019) 134 (Supplement_1): 5402.

https://doi.org/10.1182/blood-2019-122127

Published: 2019

Journal Articles

2'-O-Methoxyethyl Splice-Switching Oligos to Reverse Splicing from IVS2-745 β-Thalassemia Patient Cells: A Foundation for Potential Therapies

Blood (2019) 134 (Supplement_1): 2244.

https://doi.org/10.1182/blood-2019-127017

Published: 2019

Journal Articles

MLL-Fusion Leukemia Dependence on MBNL1 Is Associated with Alternative Splicing of Oncogenic Proteins

Arun Gurunathan, MD, Lana S Itskovich, PhD, Jason Clark, MS, Matthew Burwinkel, Nathan Salomonis, PhD, Meenakshi Venkatasubramanian, BS, Kashish Chetal, MS, Lynn Lee, MD, Ashish R Kumar, MD PhD

Blood (2018) 132 (Supplement 1): 3883.

https://doi.org/10.1182/blood-2018-99-112349

Published: 2018

Journal Articles

Signaling Pathways of Mutant IDH1 Independent of R-2-Hydroxyglutarate

Charu Gupta, Michelle Maria Araujo Cruz, PhD, Nidhi Jyotsana, PhD, Amit Sharma, PhD, Ramya Goparaju, PhD, Kerstin Görlich, Renate Schottmann, Eduard Struys, PhD, Erwin E Jansen, Felicitas Thol, MD, Arnold Ganser, MD, Michael Heuser, MD, Anuhar Chaturvedi, PhD

Blood (2018) 132 (Supplement 1): 2617.

https://doi.org/10.1182/blood-2018-99-110159

Published: 2018

Journal Articles

Multiplex Human T Cell Engineering without Double-Strand Break Induction Using the Cas9 Base Editor System

Beau Webber, PhD, Cara-lin Lonetree, MS, Miechaleen Diers, Walker S Lahr, Kluesner Mitchell, Matthew J Johnson, PhD, Branden S Moriarity, PhD

Blood (2018) 132 (Supplement 1): 3495.

https://doi.org/10.1182/blood-2018-99-120372

Published: 2018

Journal Articles

Characterization of Pathogenic Variants and Clinical Phenotypes in 117 Japanese Fanconi Anemia Patients

Minako Mori, MD, Asuka Hira, MD PhD, Kenichi Yoshida, MD PhD, Hideki Muramatsu, MD PhD, Yusuke Okuno, MD PhD, Michiko Anmae, MS, Kazuo Tamura, MD PhD, Jun Yasuda, MD PhD, Tomoo Osumi, MD, Yasushi Noguchi, MD, Souichi Adachi, MD PhD, Hiroshi Kawabata, MD PhD, Akifumi Takaori-Kondo, MD PhD, Seiji Kojima, MD PhD, Seishi Ogawa, MD PhD, Hiromasa Yabe, MD, PhD, Miharu Yabe, MD PhD, Minoru Takata, MD PhD

Blood (2018) 132 (Supplement 1): 3860.

https://doi.org/10.1182/blood-2018-99-110362

Published: 2018

Journal Articles

Clinical Implications of MYD88 and CXCR4 in Patients with Waldenström's Macroglobulinemia

Martina Divoka, Tomas Pika, MD PhD, Lenka Krupkova, Monika Orviska, Romana Janska, Jiri Minarik, MD PhD, Tomas Papajik, MD prof

Blood (2018) 132 (Supplement 1): 5314.

https://doi.org/10.1182/blood-2018-99-112855

Published: 2018

Journal Articles

Mutations in the NOTCH1 PEST Domain Enhance the Expression of CCL17 By Displacing the Transcription Factor HDAC1 in Chronic Lymphocytic Leukemia

Zhenshu Xu, MD PhD, Shifen Wang, Xiuli Chen, Xueting Liang, Huixin Liang, Tingting Wang

Blood (2018) 132 (Supplement 1): 4408.

https://doi.org/10.1182/blood-2018-99-116388

Published: 2018

Journal Articles

Nearly a Third of Clonal Hematopoiesis-Associated DNMT3A Mutations Reduce Protein Stability and May be Associated with Poorer Prognosis

Yung-Hsin Huang, Ayala Tovy, PhD, Venkatasubramaniam Sundaramurthy, Jianzhong Su, Joanne Hsu, BS, Lian He, Anna Guzman, Yubin Zhou, Alexander Meissner, PhD, Wei Li, Margaret A. Goodell, PhD

Blood (2018) 132 (Supplement 1): 1315.

https://doi.org/10.1182/blood-2018-99-115275

Published: 2018

Journal Articles

A New Therapeutic Hypothesis: Nonsense-Mediated Decay Is an Exploitable Target in Multiple Myeloma

Alexander Leeksma, MD, Ingrid A.M. Derks, Brett Garrick, Torsten Trowe, Aldo Jongejan, PhD, Perry Moerland, PhD, Arnon P. Kater, MD, Eric Eldering, PhD, Ellen Filvaroff, PhD

Blood (2018) 132 (Supplement 1): 1937.

https://doi.org/10.1182/blood-2018-99-114801

Published: 2018

Journal Articles

Splicing Control in Normal and Aberrant Erythropoiesis

Esther Obeng, MD PhD

Blood (2018) 132 (Supplement 1): SCI-47.

https://doi.org/10.1182/blood-2018-99-109414

Published: 2018

Journal Articles

A Novel Mutation Causing GATA2 Haploinsufficiency Activates a Cryptic Splice Site in Exon 3

Claudia Wehr, Katja Grotius, Dorothee Bleckmann, Emilia J Kozyra, Sebastian Bode, Björn C Frye, Marcin W. Wlodarski, MD PhD, Maximilian Seidl, Ulrich Salzer

Blood (2017) 130 (Supplement 1): 2467.

https://doi.org/10.1182/blood.V130.Suppl_1.2467.2467

Published: 2017

Journal Articles

SF3B1 Mutation Causes Aberrant Splicing and Downregulation of PPP2R5A in Chronic Lymphocytic Leukemia

Qimei Han, MBBS, Libin Deng, PhD, Lirong Pei, Jeong-Hyeon Choi, PhD, Victor Jin, PhD, Huidong Shi

Blood (2017) 130 (Supplement 1): 2477.

https://doi.org/10.1182/blood.V130.Suppl_1.2477.2477

Published: 2017

Journal Articles

Neurofibromin 1 gene Mutations Are Recurrent Events in Adult Patients with Acute Myeloid Leukemia (AML), Associate with Poor Outcome and Refine the Adverse European Leukemianet (ELN) Risk Category

Ann-Kathrin Eisfeld, MD, Jessica Kohlschmidt, PhD, Krzysztof Mrózek, MDPhD, Alice S. Mims, MD MSCR, Christopher J. Walker, PhD, James S. Blachly, MD, Deedra Nicolet, MS, Shelley Orwick, BS, Sofia E. Maharry, Andrew Carroll, PhD, Bayard L. Powell, MD, Jonathan E. Kolitz, MD, Eunice S. Wang, MD, Richard M. Stone, MD, Albert de la Chapelle, MD PhD, John C. Byrd, MD, Clara D. Bloomfield, MD

Blood (2017) 130 (Supplement 1): 186.

https://doi.org/10.1182/blood.V130.Suppl_1.186.186

Published: 2017

Journal Articles

Generation of New Cell Models to Screen Improved Vectors for Functional Hemoglobin Expression

Silvia Pires Lourenco, MSc, Amaliris Gonzalez, PhD, Tobias Raabe, PhD, Ryo Kurita, PhD, Yukio Nakamura, MD PhD, Laura Breda, PhD, Stefano Rivella, PhD

Blood (2017) 130 (Supplement 1): 5563.

https://doi.org/10.1182/blood.V130.Suppl_1.5563.5563

Published: 2017

NARROW

Hyperstable SGK1 steps out of AKT’s shadow

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

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

Somatic Mutations and Loss of Heterozygosity of HLA Genes Are Frequently Occurred and Tightly Associated with Poor Prognosis in Adult T Cell Leukemia-Lymphoma

Characterizing Dyskeratosis Congenita Caused By Parn Mutations in the Zebrafish

MPO as a Novel Susceptibility Gene in Myeloid Malignancies

2'-O-Methoxyethyl Splice-Switching Oligos to Reverse Splicing from IVS2-745 β-Thalassemia Patient Cells: A Foundation for Potential Therapies

MLL-Fusion Leukemia Dependence on MBNL1 Is Associated with Alternative Splicing of Oncogenic Proteins

Signaling Pathways of Mutant IDH1 Independent of R-2-Hydroxyglutarate

Multiplex Human T Cell Engineering without Double-Strand Break Induction Using the Cas9 Base Editor System

Characterization of Pathogenic Variants and Clinical Phenotypes in 117 Japanese Fanconi Anemia Patients

Clinical Implications of MYD88 and CXCR4 in Patients with Waldenström's Macroglobulinemia

Mutations in the NOTCH1 PEST Domain Enhance the Expression of CCL17 By Displacing the Transcription Factor HDAC1 in Chronic Lymphocytic Leukemia

Nearly a Third of Clonal Hematopoiesis-Associated DNMT3A Mutations Reduce Protein Stability and May be Associated with Poorer Prognosis

A New Therapeutic Hypothesis: Nonsense-Mediated Decay Is an Exploitable Target in Multiple Myeloma

Splicing Control in Normal and Aberrant Erythropoiesis

A Novel Mutation Causing GATA2 Haploinsufficiency Activates a Cryptic Splice Site in Exon 3

SF3B1 Mutation Causes Aberrant Splicing and Downregulation of PPP2R5A in Chronic Lymphocytic Leukemia

Neurofibromin 1 gene Mutations Are Recurrent Events in Adult Patients with Acute Myeloid Leukemia (AML), Associate with Poor Outcome and Refine the Adverse European Leukemianet (ELN) Risk Category

Generation of New Cell Models to Screen Improved Vectors for Functional Hemoglobin Expression

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American Society of Hematology

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American Society of Hematology

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