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Journal Articles

Decreased Activity and Stability of Pyruvate Kinase in Hereditary Hemolytic Anemia: A Potential Target for Therapy By AG-348 (Mitapivat), an Allosteric Activator of Red Blood Cell Pyruvate Kinase

Minke A.E. Rab, MD, Brigitte A. van Oirschot, Stephanie van Straaten, MD PhD, Bart J. Biemond, MD PhD, Jennifer Bos, Penelope A. Kosinski, MS, Charles Kung, PhD, Eduard J. van Beers, MD PhD, Richard van Wijk, PhD

Blood (2019) 134 (Supplement_1): 3506.

https://doi.org/10.1182/blood-2019-129996

Published: 2019

Journal Articles

Deciphering the Causal Diagnosis of Hydrops Fetalis or Unexplained Fetal Anemia Using Targeted Next Generation and Exome Sequencing

Julie Galimand, Helene Bourdeau, Odile Fenneteau, Sophie Dreux, Nathalie Couque, PharmD, Severine Drunat, PharmD, PhD, Serge Pissard, PhD, Thierry Leblanc, MD, Anne Lambilliotte, MD, Catherine Thong Vanh, Caroline Alby, jelena-Hélène martinovic-Bouriel, Chloé Quelin, Mohandas Narla, DSc, Anne Cortey, Lydie Da Costa

Blood (2019) 134 (Supplement_1): 3519.

https://doi.org/10.1182/blood-2019-127432

Published: 2019

Journal Articles

Spectrum of Genetic Defects and Phenotype-Genotype Correlation in Dyserythropoietic Anemias: Bench to Bedside Approach in the Indian Scenario

Reena Das, MD, Manu Jamwal, PhD, Anu Aggarwal, PhD, Prashant Sharma, DM, Man Updesh Singh Sachdeva, MD, Deepak Bansal, MD, Sreejesh Sreedharanunni, DM, Narender Kumar, MD, Shano Naseem, MD, Jasmina Ahluwalia, MD, Neelam Varma, MD, Pankaj Malhotra, MD, Arindam Maitra, PhD

Blood (2019) 134 (Supplement_1): 950.

https://doi.org/10.1182/blood-2019-126453

Published: 2019

Journal Articles

Evaluation of Phenotype-Genotype Correlation in Two Common PIEZO1 Mutations p.R2456H and p.L2495_E2495dup

Mary Risinger, PhD, Vandy Black, MDMSc, Loan Hsieh, MD, Renee C. Prins, MD, Jill Menell, MD, Mohamad Badawi, MD, Cynthia Rutherford, MD, Karen L. Bride, MD PhD, Omar Niss, MD, Charles T. Quinn, MD, Katie Giger Seu, PhD, Wenying Zhang, MDPhD, Theodosia A. Kalfa, MD PhD

Blood (2018) 132 (Supplement 1): 1040.

https://doi.org/10.1182/blood-2018-99-117299

Published: 2018

Journal Articles

A Yoda1-Based Approach to Investigate Piezo1 Channels in Red Blood Cells Using Automated Patch Clamp Technology

Maria Giustina Rotordam, BSc, MSc, Elisa Fermo, PhD, Nadine Becker, PhD, Wilma Barcellini, MD, Andrea Brüggemann, PhD CSO, Niels Fertig, PhD CEO, Stéphane Egée, PhD, Markus Rapedius, PhD, Paola Bianchi, BSc, PhD, Lars Kaestner, Dr. rer. nat.

Blood (2018) 132 (Supplement 1): 1031.

https://doi.org/10.1182/blood-2018-99-118043

Published: 2018

Journal Articles

A Novel Role for PIEZO1 in Calcium Homeostasis during Erythropoiesis

Francesca Aglialoro, MSc, Nurcan Yagci, Marieke von Lindern, PhD, Richard van Wijk, PhD, Emile van den Akker, PhD

Blood (2018) 132 (Supplement 1): 2321.

https://doi.org/10.1182/blood-2018-99-110454

Published: 2018

Journal Articles

Phenotype-Genotype Spectrum of Stomatocytic Disorders Encountered in India Using Next Generation Sequencing

Reena Das, MD, Manu Jamwal, MSc, Anu Aggarwal, MSc, Prashant Sharma, DM, Arindam Maitra, PhD, Deepak Bansal, MD, Pankaj Malhotra, MD

Blood (2018) 132 (Supplement 1): 2326.

https://doi.org/10.1182/blood-2018-99-114554

Published: 2018

Journal Articles

The Spectrum of Genetic Defects in Indian Patients with Rare Congenital Anemias: Next Generation Sequencing Based Approach

Manu Jamwal, MSc, Anu Aggarwal, MSc, Prashant Sharma, DM, Deepak Bansal, MD, Pankaj Malhotra, MD, Arindam Maitra, PhD, Reena Das, MD

Blood (2018) 132 (Supplement 1): 2328.

https://doi.org/10.1182/blood-2018-99-116092

Published: 2018

Journal Articles

Use of Next Generation Sequencing Panel to Clarify Undiagnosed Cases of Hereditary Hemolytic Anemias

Elisa Fermo, PhD, Cristina Vercellati, PhD, Anna Paola Marcello, PhD, Ebru Yilmaz Keskin, MD, Aurora Feliu Torres, MD, Silverio Perrotta, Tekin Aksu, MD, Anna Zaninoni, BS, Valentina Brancaleoni, MSc, Richard van Wijk, PhD, Sultan Aydin Koker, MD, Alberto Zanella, MD, Agostino Cortelezzi, Prof, Wilma Barcellini, MD, Paola Bianchi, BSc, PhD

Blood (2017) 130 (Supplement 1): 3480.

https://doi.org/10.1182/blood.V130.Suppl_1.3480.3480

Published: 2017

Journal Articles

The Flow Cytometric Osmotic Fragility Test Is an Effective Screening Method for Dehydrated Hereditary Stomatocytosis

Taiju Utsugisawa, MD PhD, Takuya Iwasaki, MLS, Takako Aoki, MLS, Yoshio Okamoto, MLS, Takahiro Kawakami, MD PhD, Hiromi Ogura, MD PhD, Hitoshi Kanno, MDPhD

Blood (2017) 130 (Supplement 1): 929.

https://doi.org/10.1182/blood.V130.Suppl_1.929.929

Published: 2017

Journal Articles

Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis

Edyta Glogowska, Eve R. Schneider, Yelena Maksimova, Vincent P. Schulz, Kimberly Lezon-Geyda, John Wu, Kottayam Radhakrishnan, Siobán B. Keel, Donald Mahoney, Alison M. Freidmann, Rachel A. Altura, Elena O. Gracheva, Sviatoslav N. Bagriantsev, Theodosia A. Kalfa, Patrick G. Gallagher

Blood (2017) 130 (16): 1845–1856.

https://doi.org/10.1182/blood-2017-05-786004

Published: 2017

Includes: Multimedia, Supplemental data

Journal Articles

Clinical Application of Massively Parallel Sequencing in the Diagnosis of Hereditary Hemolytic and Dyserythropoietic Anemias

Harry Lesmana, MD, Georgios E Christakopoulos, MD, Katie Giger Seu, PhD, Mary Risinger, PhD, Hatice Duzkale, MD MPH, PhD, Neha Dagaonkar, Kejian Zhang, MD, Theodosia A Kalfa, MD PhD

Blood (2016) 128 (22): 4746.

https://doi.org/10.1182/blood.V128.22.4746.4746

Published: 2016

Journal Articles

Gardos Channel Mutation Is Associated with Hereditary Dehydrate Stomatocytosis: a Complex Channelopathy

Elisa Fermo, PhD, Anna Yu. Bogdanova, Dr PhD, Polina Petkova-Kirova, PhD, Anna Zaninoni, BSc, PhD, Anna Paola Marcello, PhD, Asya Makhro, PhD, Pascal Hänggi, PhD, Laura Hertz, PhD, Jens Danielczok, Nadia Mirra, MD, Alberto Zanella, MD, Wilma Barcellini, MD, Kaestner Lars, PhD, Paola Bianchi, PhD

Blood (2015) 126 (23): 3333.

https://doi.org/10.1182/blood.V126.23.3333.3333

Published: 2015

Journal Articles

A mutation in the Gardos channel is associated with hereditary xerocytosis

Blood (2015) 126 (11): 1273–1280.

https://doi.org/10.1182/blood-2015-04-642496

Published: 2015

Journal Articles

Mutations in the Gardos channel ( KCNN4 ) are associated with hereditary xerocytosis

Edyta Glogowska, Kimberly Lezon-Geyda, Yelena Maksimova, Vincent P. Schulz, Patrick G. Gallagher

Blood (2015) 126 (11): 1281–1284.

https://doi.org/10.1182/blood-2015-07-657957

Published: 2015

Journal Articles

The Novel PIEZO1 Mutation p.L2023V Is Causal for Hereditary Xerocytosis Resulting in Delayed Channel Inactivation and a Dehydrated Red Blood Cell Phenotype

Mary A Risinger, PhD, Edyta Glogowska, PhD, Amber Hogart Begtrup, PhD, Neha Dagaonkar, Satheesh Chonat, MD, Clinton H Joiner, MD PhD, Charles T. Quinn, MD, Theodosia A. Kalfa, MD PhD, Patrick G Gallagher, MD

Blood (2014) 124 (21): 741.

https://doi.org/10.1182/blood.V124.21.741.741

Published: 2014

Journal Articles

GDF15 Is Not The Sole Negative Regulator Of Hepcidin In Hereditary Xerocytosis

Heather Wittick, Ryan Zarychanski, MD, MSc, Armando G. Poeppl, BSC, Brett L. Houston, MD, Donald S Houston, MD, Ph.D, Versha Banerji, MD

Blood (2013) 122 (21): 3440.

https://doi.org/10.1182/blood.V122.21.3440.3440

Published: 2013

Journal Articles

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

Ryan Zarychanski, Vincent P. Schulz, Brett L. Houston, Yelena Maksimova, Donald S. Houston, Brian Smith, Jesse Rinehart, Patrick G. Gallagher

Blood (2012) 120 (9): 1908–1915.

https://doi.org/10.1182/blood-2012-04-422253

Published: 2012

Includes: Supplemental data

Journal Articles

Genetic Linkage of the Dehydrated Hereditary Stomatocytosis Locus to Chromosome 16 in Two Kindreds and Refinement of the Candidate Gene Region to 16q24.2 - 16qter,

Brett L. Houston, BSc, Teresa Zelinski, Ph.D, Donald S Houston, MD, Ph.D, Sara J. Israels, MD, Gail Coghlan, RT BSc, Bernie N. Chodirker, MD, Patrick G. Gallagher, MD, Ryan Zarychanski, MD, MSc

Blood (2011) 118 (21): 3170.

https://doi.org/10.1182/blood.V118.21.3170.3170

Published: 2011

Journal Articles

Phenotypic Evaluation of a Family Cohort with Hemolytic Anemia

Brett L. Houston, BSc, Donald S. Houston, MD, Ph.D, Sara J. Israels, MD, Gail Coghlan, Bernie N. Chodirker, MD, Teresa Zelinski, Ph.D, Ryan Zarychanski, MD, MSc

Blood (2010) 116 (21): 3214.

https://doi.org/10.1182/blood.V116.21.3214.3214

Published: 2010

NARROW

Decreased Activity and Stability of Pyruvate Kinase in Hereditary Hemolytic Anemia: A Potential Target for Therapy By AG-348 (Mitapivat), an Allosteric Activator of Red Blood Cell Pyruvate Kinase

Deciphering the Causal Diagnosis of Hydrops Fetalis or Unexplained Fetal Anemia Using Targeted Next Generation and Exome Sequencing

Spectrum of Genetic Defects and Phenotype-Genotype Correlation in Dyserythropoietic Anemias: Bench to Bedside Approach in the Indian Scenario

Evaluation of Phenotype-Genotype Correlation in Two Common PIEZO1 Mutations p.R2456H and p.L2495_E2495dup

A Yoda1-Based Approach to Investigate Piezo1 Channels in Red Blood Cells Using Automated Patch Clamp Technology

A Novel Role for PIEZO1 in Calcium Homeostasis during Erythropoiesis

Phenotype-Genotype Spectrum of Stomatocytic Disorders Encountered in India Using Next Generation Sequencing

The Spectrum of Genetic Defects in Indian Patients with Rare Congenital Anemias: Next Generation Sequencing Based Approach

Use of Next Generation Sequencing Panel to Clarify Undiagnosed Cases of Hereditary Hemolytic Anemias

The Flow Cytometric Osmotic Fragility Test Is an Effective Screening Method for Dehydrated Hereditary Stomatocytosis

Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis

Clinical Application of Massively Parallel Sequencing in the Diagnosis of Hereditary Hemolytic and Dyserythropoietic Anemias

Gardos Channel Mutation Is Associated with Hereditary Dehydrate Stomatocytosis: a Complex Channelopathy

A mutation in the Gardos channel is associated with hereditary xerocytosis

Mutations in the Gardos channel ( KCNN4 ) are associated with hereditary xerocytosis

The Novel PIEZO1 Mutation p.L2023V Is Causal for Hereditary Xerocytosis Resulting in Delayed Channel Inactivation and a Dehydrated Red Blood Cell Phenotype

GDF15 Is Not The Sole Negative Regulator Of Hepcidin In Hereditary Xerocytosis

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

Genetic Linkage of the Dehydrated Hereditary Stomatocytosis Locus to Chromosome 16 in Two Kindreds and Refinement of the Candidate Gene Region to 16q24.2 - 16qter,

Phenotypic Evaluation of a Family Cohort with Hemolytic Anemia

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American Society of Hematology

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American Society of Hematology

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