A nonsense variant in the Hexokinase 1 gene ( HK 1 ) causing severe non‐spherocytic haemolytic anaemia: genetic analysis exemplifies ambiguity due to multiple Isoforms-Reference-Cited by-同舟云学术

A nonsense variant in the Hexokinase 1 gene ( HK 1 ) causing severe non‐spherocytic haemolytic anaemia: genetic analysis exemplifies ambiguity due to multiple Isoforms

Published:2019-05-23 Issue:5 Volume:186 Page:
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Jamwal Manu¹,Aggarwal Anu¹,Palodi Arindam²,Sharma Prashant¹,Bansal Deepak³^ORCID,Maitra Arindam²,Das Reena¹^ORCID

Affiliation:

1. Department of Haematology Post Graduate Institute of Medical Education and Research Chandigarh India

2. National Institute of Biomedical Genomics Kalyani West Bengal India

3. Haematology‐Oncology Unit Department of Pediatrics Post Graduate Institute of Medical Education and Research Chandigarh India

Funder

Indian Council of Medical Research

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.15981

Reference8 articles.

1. Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups

2. Next-generation sequencing unravels homozygous mutation in glucose-6-phosphate isomerase, GPI c.1040G > A (p.Arg347His) causing hemolysis in an Indian infant

3. Overhydrated stomatocytosis associated with a complex RHAG genotype including a novel de novo mutation

4. Homozygous intragenic deletion of type I hexokinase gene causes lethal hemolytic anemia of the affected fetus

5. Allogeneic bone marrow transplantation for treatment of severe hemolytic anemia attributable to hexokinase deficiency

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1. Spermatogenic cell-specific type 1 hexokinase (HK1S) is essential for capacitation-associated increase in tyrosine phosphorylation and male fertility in mice;PLOS Genetics;2024-07-29

2. Biallelic hexokinase 1 (HK1) variants causative of non‐spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review;British Journal of Haematology;2024-02-28

3. Insight into mRNA and its regulating pathways in the susceptibility and resistance to malaria infection by RNA sequencing;2023-10-27

4. Expanding the Molecular Spectrum of HK1-Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran;Archives of Iranian Medicine;2023-05-01

5. Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants;European Journal of Medical Genetics;2023-03