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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

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

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

Pathogenic Germline Variants in Acquired Aplastic Anemia (AA) and Paroxysmal Nocturnal Hemoglobinuria (PNH)

Wenyi Shen, MD, Cassandra M. Hirsch, Bartlomiej P. Przychodzen, Hideki Makishima, MD PhD, Louis Williams, MD MBA, Sudipto Mukherjee, MD PhD MPH, Hetty E. Carraway, MD MBA, Mikkael A. Sekeres, MD MS, Jaroslaw P. Maciejewski

Blood (2018) 132 (Supplement 1): 2583.

https://doi.org/10.1182/blood-2018-99-115228

Published: 2018

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

Analysis of Even a Limited Number of Genes Indicates a Strong Inherited Component in Otherwise Typical Sporadic MDS

Cassandra M. Hirsch, Wenyi Shen, MD, Bartlomiej P. Przychodzen, Yasunobu Nagata, Vera Adema, PhD, Teodora Kuzmanovic, BA, Louis Williams, MD MBA, Aziz Nazha, Valeria Visconte, PhD, Hetty E. Carraway, MD MBA, Mikkael A. Sekeres, MD MS, Jaroslaw P. Maciejewski

Blood (2018) 132 (Supplement 1): 3074.

https://doi.org/10.1182/blood-2018-99-116535

Published: 2018

Journal Articles

Early Hematopoietic Progenitors of Dkc1 Hypomorphic Mutant Mice Display Decreased Proliferation Rate and an Impaired Control of Serine/Arginine-Rich Splicing Factor 4 (Srsf4) Translation

Antonio R Lucena-Araujo, PhD, Bárbara A Santana-Lemos, PhD, Carol H Thome, PhD, Germano A Ferreira, PhD, Davide Ruggero, Prof, MD PhD, Vitor Marcel Faça, Prof, PhD, Eduardo M Rego, Prof, MD PhD

Blood (2014) 124 (21): 2937.

https://doi.org/10.1182/blood.V124.21.2937.2937

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

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

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

Whole Exome Analysis Of Germline Alterations Associated With Myelodysplastic Syndrome

Sarah McMahon, Bartlomiej P Przychodzen, PhD, Hideki Makishima, MD, PhD, Thomas LaFramboise, PhD, Kenichi Yoshida, MD, Yuichi Shiraishi, PhD, Masashi Sanada, MD, PhD, Yasunobu Nagata, MD, Yusuke Sato, MD, Kenichi Chiba, PhD, Hiroko Tanaka, BA, Satoru Miyano, PhD, Aiko Sato-Otsubo, Seishi Ogawa, MD, PhD, Jaroslaw P. Maciejewski, MD, PhD

Blood (2013) 122 (21): 2800.

https://doi.org/10.1182/blood.V122.21.2800.2800

Published: 2013

Journal Articles

Dyskerin Is Upregulated During Erythroid Differentiation of Human Hematopoietic Progenitor Cells and Hyperactivates Telomerase in Erythroid Precursor Cells

Ashu Kumari, Laura A Richards, Georg Jonquieres, Kathy Knezevic, BSc (Hons), Rosemary O'Brien, Christine E Napier, Jonathon Marks-Bluth, Hilda Pickett, John E Pimanda, MD, PhD, Karen L MacKenzie

Blood (2012) 120 (21): 980.

https://doi.org/10.1182/blood.V120.21.980.980

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

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

Journal Articles

The Effects of Pathogenic Dkc1 Mutations on Telomerase and Ribosome Biogenesis.

Baiwei Gu, Ph.D, Jian-meng Fan, B.S, Rachel Idol, Ph.D, Monica Bessler, MD, PhD, Philip J Mason, Ph.D

Blood (2010) 116 (21): 1163.

https://doi.org/10.1182/blood.V116.21.1163.1163

Published: 2010

Journal Articles

Antioxidant Treatment Rescues An Accelerated Aging Phenotype In Dyskerin Mutated Bone Marrow Stem Cells.

Baiwei Gu, Ph.D, Jian-meng Fan, B.S, Monica Bessler, MD, PhD, Philip J Mason, Ph.D

Blood (2010) 116 (21): 2614.

https://doi.org/10.1182/blood.V116.21.2614.2614

Published: 2010

Journal Articles

Ribosome Dysfunction and Ineffective Hematopoiesis.

Benjamin L. Ebert, MD, DPhil

Blood (2009) 114 (22): SCI-11.

https://doi.org/10.1182/blood.V114.22.SCI-11.SCI-11

Published: 2009

Journal Articles

Telomere maintenance and human bone marrow failure

Rodrigo T. Calado, Neal S. Young

Blood (2008) 111 (9): 4446–4455.

https://doi.org/10.1182/blood-2007-08-019729

Published: 2008

Journal Articles

Changes in the expression of telomere maintenance genes suggest global telomere dysfunction in B-chronic lymphocytic leukemia

Delphine Poncet, Aurélie Belleville, Claire t'Kint de Roodenbeke, Aude Roborel de Climens, Elsa Ben Simon, Hélène Merle-Beral, Evelyne Callet-Bauchu, Gilles Salles, Laure Sabatier, Jozo Delic, Eric Gilson

Blood (2008) 111 (4): 2388–2391.

https://doi.org/10.1182/blood-2007-09-111245

Published: 2008

NARROW

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

Characterizing Dyskeratosis Congenita Caused By Parn Mutations in the Zebrafish

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

Pathogenic Germline Variants in Acquired Aplastic Anemia (AA) and Paroxysmal Nocturnal Hemoglobinuria (PNH)

Somatic TERT promoter Mutations in a Broad Spectrum of Telomeropathies

Analysis of Even a Limited Number of Genes Indicates a Strong Inherited Component in Otherwise Typical Sporadic MDS

Early Hematopoietic Progenitors of Dkc1 Hypomorphic Mutant Mice Display Decreased Proliferation Rate and an Impaired Control of Serine/Arginine-Rich Splicing Factor 4 (Srsf4) Translation

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

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

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

Whole Exome Analysis Of Germline Alterations Associated With Myelodysplastic Syndrome

Dyskerin Is Upregulated During Erythroid Differentiation of Human Hematopoietic Progenitor Cells and Hyperactivates Telomerase in Erythroid Precursor Cells

Clinical and Genetic Heterogeneity of Telomere Diseases.

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

The Effects of Pathogenic Dkc1 Mutations on Telomerase and Ribosome Biogenesis.

Antioxidant Treatment Rescues An Accelerated Aging Phenotype In Dyskerin Mutated Bone Marrow Stem Cells.

Ribosome Dysfunction and Ineffective Hematopoiesis.

Telomere maintenance and human bone marrow failure

Changes in the expression of telomere maintenance genes suggest global telomere dysfunction in B-chronic lymphocytic leukemia

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American Society of Hematology

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American Society of Hematology

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