Cargando…

Molecular basis of non-deletional HPFH in Thailand and identification of two novel mutations at the binding sites of CCAAT and GATA-1 transcription factors

High Hb F determinants are genetic defects associated with increased expression of hemoglobin F in adult life, classified as deletional and non-deletional forms. We report the first description of non-deletional hereditary persistence of fetal hemoglobin (HFPH) in Thailand. Study was done on 388 sub...

Descripción completa

Detalles Bibliográficos
Autores principales:	Singha, Kritsada, Pansuwan, Anupong, Chewasateanchai, Mattanee, Fucharoen, Goonnapa, Fucharoen, Supan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10366219/ https://www.ncbi.nlm.nih.gov/pubmed/37488161 http://dx.doi.org/10.1038/s41598-023-39173-8

Ejemplares similares

Prevalence of Thalassemia among Newborns: A Re-visited after 20 Years of a Prevention and Control Program in Northeast Thailand
por: Chaibunruang, Attawut, et al.
Publicado: (2018)

Interaction of hemoglobin Grey Lynn (Vientiane) with a non-deletional α(+)-thalassemia in an adult Thai proband
por: Singha, Kritsada, et al.
Publicado: (2014)

A Large Cohort of Hemoglobin Variants in Thailand: Molecular Epidemiological Study and Diagnostic Consideration
por: Srivorakun, Hataichanok, et al.
Publicado: (2014)

Molecular basis of a high Hb A(2)/Hb Fβ-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction with α-globin gene triplication
por: Soontornpanawet, Chayada, et al.
Publicado: (2023)

Diagnostic value of fetal hemoglobin Bart’s for evaluation of fetal α-thalassemia syndromes: application to prenatal characterization of fetal anemia caused by undiagnosed α-hemoglobinopathy
por: Singha, Kritsada, et al.
Publicado: (2022)

Frequency of unnecessary prenatal diagnosis of hemoglobinopathies: A large retrospective analysis and implication to improvement of the control program
por: Singha, Kritsada, et al.
Publicado: (2023)

Factors associated with anaemia and iron deficiency among women of reproductive age in Northeast Thailand: a cross-sectional study
por: Jamnok, Jutatip, et al.
Publicado: (2020)

Anemia, iron deficiency, and thalassemia among the Thai population inhabiting at the Thailand-Lao PDR-Cambodia triangle
por: Karnpean, Rossarin, et al.
Publicado: (2022)

Genetic origin of α(0)-thalassemia (SEA deletion) in Southeast Asian populations and application to accurate prenatal diagnosis of Hb Bart’s hydrops fetalis syndrome
por: Jomoui, Wittaya, et al.
Publicado: (2017)

Thalassemia and erythroid transcription factor KLF1 mutations associated with borderline hemoglobin A(2) in the Thai population
por: Srivorakun, Hataichanok, et al.
Publicado: (2020)

The Correlation Between Ineffective Erythropoiesis Biomarkers and Development of Extramedullary Hematopoiesis in Patients with Thalassemia
por: Chansai, Siriyakorn, et al.
Publicado: (2022)

Hemoglobin Constant Spring among Southeast Asian Populations: Haplotypic Heterogeneities and Phylogenetic Analysis
por: Jomoui, Wittaya, et al.
Publicado: (2015)

Effect of health education on severe thalassemia prevention and control in communities in Cambodia
por: Cheng, Kimhaung, et al.
Publicado: (2018)

Molecular Analysis of Non-Transfusion Dependent Thalassemia Associated with Hemoglobin E-β-Thalassemia Disease without α-Thalassemia
por: Phanrahan, Paramee, et al.
Publicado: (2019)

Evaluation of staff performance and interpretation of the screening program for prevention of thalassemia
por: Prommetta, Simaporn, et al.
Publicado: (2017)

FLT3 Gene Mutations in Acute Myeloid Leukemia Patients in Northeast Thailand
por: Aung, Nang Ei Ei, et al.
Publicado: (2022)

Hemoglobins F, A(2), and E levels in Laotian children aged 6‐23 months with Hb E disorders: Effect of age, sex, and thalassemia types
por: Kingchaiyaphum, Benchawan, et al.
Publicado: (2020)

Editing the core region in HPFH deletions alters fetal and adult globin expression for treatment of β-hemoglobinopathies
por: Venkatesan, Vigneshwaran, et al.
Publicado: (2023)

Anemia in an ethnic minority group in lower northern Thailand: A community-based study investigating the prevalence in relation to inherited hemoglobin disorders and iron deficiency
por: Pyae, Thinzar Win, et al.
Publicado: (2023)

Loop-mediated isothermal amplification (LAMP) colorimetric phenol red assay for rapid identification of α(0)-thalassemia: Application to population screening and prenatal diagnosis
por: Jomoui, Wittaya, et al.
Publicado: (2022)

Genetic research and clinical analysis of deletional Chinese (G)γ(+)((A)γδβ)(0) -thalassemia and Southeast Asian HPFH in South China
por: Wu, Yuanjun, et al.
Publicado: (2020)

Identification of novel HPFH-like mutations by CRISPR base editing that elevate the expression of fetal hemoglobin
por: Ravi, Nithin Sam, et al.
Publicado: (2022)

Functional Studies of CCAAT/Enhancer Binding Protein Site Located Downstream of the Transcriptional Start Site
por: Liu, Yujie, et al.
Publicado: (2017)

Targeted Deletion of a High-Affinity GATA-binding Site in the GATA-1 Promoter Leads to Selective Loss of the Eosinophil Lineage In Vivo
por: Yu, Channing, et al.
Publicado: (2002)

Promoter-distal RNA polymerase II binding discriminates active from inactive CCAAT/ enhancer-binding protein beta binding sites
por: Savic, Daniel, et al.
Publicado: (2015)

Role of the CCAAT-Binding Protein NFY in SCA17 Pathogenesis
por: Lee, Li-Ching, et al.
Publicado: (2012)

The CCAAT-binding complex coordinates the oxidative stress response in eukaryotes
por: Thön, Marcel, et al.
Publicado: (2010)

Interactions and CCAAT-Binding of Arabidopsis thaliana NF-Y Subunits
por: Calvenzani, Valentina, et al.
Publicado: (2012)

Haemoglobinopathies in Southeast Asia
por: Fucharoen, Suthat, et al.
Publicado: (2011)

CCAAT/Enhancer-Binding Protein ε(27) Antagonism of GATA-1 Transcriptional Activity in the Eosinophil Is Mediated by a Unique N-Terminal Repression Domain, Is Independent of Sumoylation and Does Not Require DNA Binding
por: Stankiewicz, Monika J., et al.
Publicado: (2021)

Regulation of Id2 expression by CCAAT/enhancer binding protein β
por: Karaya, Kazuhiro, et al.
Publicado: (2005)

CCAAT/enhancer binding proteins in normal mammary development and breast cancer
por: Zahnow, Cynthia A
Publicado: (2002)

Biological roles of CCAAT/Enhancer-binding protein delta during inflammation
por: Ko, Chiung-Yuan, et al.
Publicado: (2015)

CCAAT/Enhancer Binding Protein β Is Dispensable for Development of Lung Adenocarcinoma
por: Cai, Yi, et al.
Publicado: (2015)

Immunostick Test for Detecting ζ-Globin Chains and Screening of the Southeast Asian α-Thalassemia 1 Deletion
por: Pata, Supansa, et al.
Publicado: (2019)

Prevalence of Enterobius vermicularis infections and associated risk factors among schoolchildren in Nakhon Si Thammarat, Thailand
por: Laoraksawong, Pokkamol, et al.
Publicado: (2020)

A comprehensive ethnic-based analysis of alpha thalassaemia allelle frequency in northern Thailand
por: Kulaphisit, Mattapong, et al.
Publicado: (2017)

Hemoglobin E Prevalence among Ethnic Groups Residing in Malaria-Endemic Areas of Northern Thailand and Its Lack of Association with Plasmodium falciparum Invasion In Vitro
por: Lithanatudom, Pathrapol, et al.
Publicado: (2016)

Thalassemia intermedia phenotype resulting from rare combination of c.46delT [Codon15 (‐T)] mutation of beta globin gene and HPFH3
por: Kelkar, Anjali J., et al.
Publicado: (2017)

Imputation of missing genotypes: an empirical evaluation of IMPUTE
por: Zhao, Zhenming, et al.
Publicado: (2008)

Cannot write session to /tmp/vufind_sessions/sess_v1v4niicn16eo434j66g2hjb5t