Germline CEBPA Mutation as a Rare Cause of Chronic Neutropenia.

Indian J Hematol Blood Transfus

Department of Hematology, Faculty of Medicine, Istanbul Medipol University, Istanbul, Turkey.

Published: July 2024

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11246327PMC
http://dx.doi.org/10.1007/s12288-023-01725-3DOI Listing

Publication Analysis

Top Keywords

germline cebpa
4
cebpa mutation
4
mutation rare
4
rare chronic
4
chronic neutropenia
4
germline
1
mutation
1
rare
1
chronic
1
neutropenia
1

Similar Publications

Timeline and genetic analysis of a 55-year-old female with a family history of gastric cancer and multiple myeloma, who was diagnosed with AML and a germline CEBPA variant.

View Article and Find Full Text PDF
Article Synopsis
  • About 10% of people with myeloid malignancies have a genetic predisposition, and a study used a genome-first approach to investigate this.
  • They analyzed eight specific genes associated with myeloid malignancy risk in a large sample of individuals from two databases, discovering high odds of developing these cancers and reduced survival rates among those with harmful genetic variants.
  • The most frequently found variant was in the DDX41 gene, which dramatically increased the likelihood of developing myeloid malignancies and also raised the risk of overall mortality among those affected.
View Article and Find Full Text PDF

A Study of 's Promoter Region and Its Regulators in Chickens.

Genes (Basel)

October 2024

Jiangsu Key Laboratory of Sericultural and Animal Biotechnology, School of Biotechnology, Jiangsu University of Science and Technology, Zhenjiang 212100, China.

The Jun proto-oncogene (), also referred to as , is an integral component of the JNK signaling pathway, which is crucial for the formation and differentiation of spermatogonial stem cells (SSCs). Investigations into the transcriptional regulation of chicken can offer a molecular foundation for elucidating its mechanistic role in SSCs. In this study, we successfully cloned a 2000 bp upstream sequence of the transcription start site and constructed a series of pGL3 recombinant vectors containing promoters of varying lengths.

View Article and Find Full Text PDF

Genetic predisposition to myelodysplastic syndrome: Genetic counseling and transplant implications.

Semin Hematol

December 2024

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD.

Article Synopsis
  • * It discusses hereditary conditions affecting platelet production, highlighting genes such as RUNX1, ETV6, and ANKRD26, and explores various genetic syndromes connected to MDS, like GATA2 deficiency and Fanconi anemia.
  • * The importance of genetic counseling and personalized treatment options, including hematopoietic cell transplantation, is emphasized to enhance patient care and outcomes in MDS management.
View Article and Find Full Text PDF
Article Synopsis
  • Myeloid neoplasms are diseases that affect blood cells and can happen with or without earlier platelet disorders.
  • Certain genetic changes can make people more likely to develop these diseases, like acute myeloid leukemia and myelodysplastic syndrome.
  • The World Health Organization now classifies these myeloid neoplasms linked to genetic issues as a special group, and the text discusses how to diagnose and manage these conditions.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!