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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

Clinical Utility of Telomere Length-Directed Genomic Assessment in Patients with Short Telomere Syndromes

Blood (2019) 134 (Supplement_1): 1222.

https://doi.org/10.1182/blood-2019-127185

Published: 2019

Journal Articles

Predicted Leukocyte Telomere Length and Risk of Myeloid Neoplasms

Jenny Poynter, PhD, Spencer Kelley, Marina Marcato, Erica Langer, Anthony J Hooten, Mary Rachel Stimson, Michelle A. Roesler, BS, Phuong L. Nguyen, MD, Adina Cioc, MD, Erica D. Warlick, MD, Nathan Pankratz

Blood (2019) 134 (Supplement_1): 1335.

https://doi.org/10.1182/blood-2019-131224

Published: 2019

Journal Articles

Telomere Shortening By Terc Knockout in the Eµ-TCL1 Transgenic Murine Model of CLL: Characterization of Disease Development and Survival

Billy Michael Chelliah Jebaraj, PhD, Annika Scheffold, PhD, André Lechel, Sarah-Fee Katz, PhD, Eugen Tausch, Johannes Bloehdorn, MD, Daniela Steinbrecher, PhD, Vanni Torresi, Christof Schneider, MD, Hartmut Döhner, MD, Daniel Mertens, PhD, Lenhard Rudolph, Stephan Stilgenbauer

Blood (2019) 134 (Supplement_1): 1732.

https://doi.org/10.1182/blood-2019-126878

Published: 2019

Journal Articles

Posttranscriptional modulation of TERC by PAPD5 inhibition rescues hematopoietic development in dyskeratosis congenita

Wilson Chun Fok, Siddharth Shukla, Alexandre Teixeira Vessoni, Kirsten Ann Brenner, Roy Parker, Christopher M. Sturgeon, Luis Francisco Zirnberger Batista

Blood (2019) 133 (12): 1308–1312.

https://doi.org/10.1182/blood-2018-11-885368

Published: 2019

Includes: Supplemental data

Journal Articles

Somatic TERT promoter Mutations in a Broad Spectrum of Telomeropathies

Fernanda Gutierrez-Rodrigues, PhD, Flávia S Donaires, PhD, André Pinto, Alana Vicente, MD, Laura Dillon, PhD, Diego V Clé, MDPhD, Bárbara Santana, Maria del Pilar Fernandez Ibanez, Danielle M. Townsley, MD MSc, Sachiko Kajigaya, PhD, Christopher S. Hourigan, DPhil FACP FRCP, James N. Cooper, MD, Rodrigo T. Calado, MD PhD, Neal S. Young, MD

Blood (2018) 132 (Supplement 1): 539.

https://doi.org/10.1182/blood-2018-99-115430

Published: 2018

Journal Articles

A novel TERC CR4/CR5 domain mutation causes telomere disease via decreased TERT binding

Baris Boyraz, Courtney M. Bellomo, Mark D. Fleming, Corey S. Cutler, Suneet Agarwal

Blood (2016) 128 (16): 2089–2092.

https://doi.org/10.1182/blood-2016-04-710160

Published: 2016

Journal Articles

Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders

Arun Balakumaran, Prasun J. Mishra, Edyta Pawelczyk, Sayuri Yoshizawa, Brian J. Sworder, Natasha Cherman, Sergei A. Kuznetsov, Paolo Bianco, Neelam Giri, Sharon A. Savage, Glenn Merlino, Bogdan Dumitriu, Cynthia E. Dunbar, Neal S. Young, Blanche P. Alter, Pamela G. Robey

Blood (2015) 125 (5): 793–802.

https://doi.org/10.1182/blood-2014-06-566810

Published: 2015

Includes: Supplemental data

Journal Articles

An antiapoptotic role for telomerase RNA in human immune cells independent of telomere integrity or telomerase enzymatic activity

Francesca S. Gazzaniga, Elizabeth H. Blackburn

Blood (2014) 124 (25): 3675–3684.

https://doi.org/10.1182/blood-2014-06-582254

Published: 2014

Includes: Supplemental data

Journal Articles

Acquired Aplastic Anemia: New Genetics, New Genomics

Neal S. Young, MD, Bogdan Dumitriu, MD, Seishi Ogawa, MD PhD

Blood (2014) 124 (21): SCI-21.

https://doi.org/10.1182/blood.V124.21.SCI-21.SCI-21

Published: 2014

Journal Articles

Downregulation of Dyskerin Impairs Expansion of Normal Hematopoietic Progenitors and Erythroid Colony Formation in the Absence of Apparent Telomere Shortening

Ashu Kumari, PhD, Laura A Richards, Karen L MacKenzie, PhD

Blood (2014) 124 (21): 1601.

https://doi.org/10.1182/blood.V124.21.1601.1601

Published: 2014

Journal Articles

Increased Telomere Length in Natural Killer Cells Generated from Human Induced Pluripotent Stem Cells

George Scaria, MD, PhD, Trevor Argall, Laura Bendzick, BS, Dan S. Kaufman, MD, PhD

Blood (2014) 124 (21): 5816.

https://doi.org/10.1182/blood.V124.21.5816.5816

Published: 2014

Journal Articles

Hereditary Mutations Are Present As Pathogenic or Predisposition Factors in Otherwise Typical Adult MDS

Bartlomiej P Przychodzen, Hideki Makishima, MD PhD, Brittney Dienes, Tomas Radivoyevitch, PhD, Hetty E. Carraway, MD MBA, Swapna Thota, MD, Bhumika J Patel, MD, Mikkael A. Sekeres, MD MS, Jaroslaw P. Maciejewski, MD PhD

Blood (2014) 124 (21): 3233.

https://doi.org/10.1182/blood.V124.21.3233.3233

Published: 2014

Journal Articles

Phenotypic Rescue Of Induced Pluripotent Stem Cells From Dyskeratosis Congenita Patients By Ectopic Expression Of DKC1 But Not TERC

Bai-wei Gu, MD; Ph.D, Jason A. Mills, Marisa Apicella, Jian-meng Fan, BS, Deborah L. French, Monica Bessler, Philip J. Mason

Blood (2013) 122 (21): 2468.

https://doi.org/10.1182/blood.V122.21.2468.2468

Published: 2013

Journal Articles

Hematological Abnormalities in Aged Telomerase RNA Component Deficient Mice Are Associated with Intestinal Epithelial Degeneration and Bone Marrow Stromal Dysfunction

Jichun Chen, PhD, James J. Dent, BS, Marie J. Desierto, Mark A. Bryant, DVM, Nolan Sheppard, BA, Xingmin Feng, PhD, Neal S. Young, MD

Blood (2012) 120 (21): 1244.

https://doi.org/10.1182/blood.V120.21.1244.1244

Published: 2012

Journal Articles

Clinical and Genetic Heterogeneity of Telomere Diseases.

Danielle M. Townsley, MD, MSc, Bogdan Dumitriu, MD, Sachiko Kajigaya, PhD, Rodrigo T. Calado, Phillip Scheinberg, MD, Neal S. Young, MD

Blood (2012) 120 (21): 2373.

https://doi.org/10.1182/blood.V120.21.2373.2373

Published: 2012

Journal Articles

Human telomere disease due to disruption of the CCAAT box of the TERC promoter

Anna M. Aalbers, Sachiko Kajigaya, Marry M. van den Heuvel-Eibrink, Vincent H. J. van der Velden, Rodrigo T. Calado, Neal S. Young

Blood (2012) 119 (13): 3060–3063.

https://doi.org/10.1182/blood-2011-10-383182

Published: 2012

Journal Articles

Human Telomere Disease Due to Disruption of the CCAAT Box of the TERC Promoter

Anna M. Aalbers, MD, Sachiko Kajigaya, PhD, Vincent H.J. van der Velden, PhD, Marry M. van den Heuvel-Eibrink, M.D., Rodrigo T. Calado, MD, PhD, Neal S. Young, MD

Blood (2011) 118 (21): 2405.

https://doi.org/10.1182/blood.V118.21.2405.2405

Published: 2011

Journal Articles

Telomere Dynamics in Pluripotent Stem Cells Derived From Patients with Telomere Diseases

Thomas Winkler, MD, Jake E Decker, B.S., So Gun Hong, DVM, Ph.D, Chuanfeng Wu, PhD, Mary J Morgan, B.S., Cynthia E. Dunbar, MD, Neal S. Young, MD, Rodrigo T Calado, MD, Ph.D

Blood (2011) 118 (21): 51.

https://doi.org/10.1182/blood.V118.21.51.51

Published: 2011

Journal Articles

Common Recurrent DKC1 Mutation A353V Does Not Support Telomere Maintenance in Induced Pluripotent Stem Cells

Baiwei Gu, Ph.D, Jason A. Mills, PhD, Jian-meng Fan, B.S, Deborah L. French, PhD, Monica Bessler, MD, PhD, Philip Mason, PhD

Blood (2011) 118 (21): 50.

https://doi.org/10.1182/blood.V118.21.50.50

Published: 2011

NARROW

Characterizing Dyskeratosis Congenita Caused By Parn Mutations in the Zebrafish

Clinical Utility of Telomere Length-Directed Genomic Assessment in Patients with Short Telomere Syndromes

Predicted Leukocyte Telomere Length and Risk of Myeloid Neoplasms

Telomere Shortening By Terc Knockout in the Eµ-TCL1 Transgenic Murine Model of CLL: Characterization of Disease Development and Survival

Posttranscriptional modulation of TERC by PAPD5 inhibition rescues hematopoietic development in dyskeratosis congenita

Somatic TERT promoter Mutations in a Broad Spectrum of Telomeropathies

A novel TERC CR4/CR5 domain mutation causes telomere disease via decreased TERT binding

Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders

An antiapoptotic role for telomerase RNA in human immune cells independent of telomere integrity or telomerase enzymatic activity

Acquired Aplastic Anemia: New Genetics, New Genomics

Downregulation of Dyskerin Impairs Expansion of Normal Hematopoietic Progenitors and Erythroid Colony Formation in the Absence of Apparent Telomere Shortening

Increased Telomere Length in Natural Killer Cells Generated from Human Induced Pluripotent Stem Cells

Hereditary Mutations Are Present As Pathogenic or Predisposition Factors in Otherwise Typical Adult MDS

Phenotypic Rescue Of Induced Pluripotent Stem Cells From Dyskeratosis Congenita Patients By Ectopic Expression Of DKC1 But Not TERC

Hematological Abnormalities in Aged Telomerase RNA Component Deficient Mice Are Associated with Intestinal Epithelial Degeneration and Bone Marrow Stromal Dysfunction

Clinical and Genetic Heterogeneity of Telomere Diseases.

Human telomere disease due to disruption of the CCAAT box of the TERC promoter

Human Telomere Disease Due to Disruption of the CCAAT Box of the TERC Promoter

Telomere Dynamics in Pluripotent Stem Cells Derived From Patients with Telomere Diseases

Common Recurrent DKC1 Mutation A353V Does Not Support Telomere Maintenance in Induced Pluripotent Stem Cells

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American Society of Hematology

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ASH Publications

American Society of Hematology

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