Results 21 to 30 of about 36,735 (203)

Targeting transcription factors associated with hemoglobinopathies: Lessons from successful interventions and implications for cancer

Molecular Oncology, EarlyView.
This review summarizes the transcription factors, repressive chromatin‐modifying complexes, and epigenetic mechanisms that control fetal hemoglobin repression. Notably, many regulators of γ‐globin silencing also function in transcriptional and epigenetic networks that drive cancer, highlighting opportunities to translate advances in hemoglobinopathy ...
Meigen Yu, Puspa Das, Xing Zhang, Xiaodong Cheng   +3 more
wiley   +1 more source

Synergistic HMGN1 and VP64 Fusions Potentiate High‐Precision and PAM‐Flexible Base Editing

Advanced Science, EarlyView.
A novel CDA1Δ‐SpRY architecture fused with HMGN1 and VP64 yields a nearly PAM‐less base editing platform. By focusing cytosine conversion predominantly at position −18, this synergistic complex ensures highly precise targeting. Demonstrating enhanced efficiency across diverse models, including yeast and rice, the platform offers a robust solution for ...
Xi Luo, Yuyao Qu, Zhengyan Ye, Zheng Li, Yuanyan Zhang, Longjiong Luo, Shaokang Li, Wei Zhao, Ming Wang, Ralph Bock, Jianmin Wan, Junjie Tan   +11 more
wiley   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Elevated Hemoglobin A2: A Molecular Revisited, and Implications to β‐Thalassemia Screening

Journal of Clinical Laboratory Analysis, EarlyView.
In Thailand, the Hb A2 cut‐off value for β‐thalassemia carrier has been changed from 4.0% to 3.6% since 2015. We examined the molecular basis of β‐thalassemia in a large cohort of Thai subjects with this change. The molecular basis of β‐thalassemia was updated, and a change in the Hb A2 cut‐off can alter this spectrum.
Kritsada Singha, Anupong Pansuwan, Hataichanok Srivorakun, Attawut Chaibunruang, Supawadee Yamsri, Wanicha Tepakhan, Kanokwan Sanchaisuriya, Goonnapa Fucharoen, Supan Fucharoen   +8 more
wiley   +1 more source

Prevalence of Co-Inheritance of Alpha-Thalassemia with Beta-Thalassemia and Beta-Hemoglobinopathy in Ahvaz City

Journal of Ardabil University of Medical Sciences, 2013
Background: Co-inheritance of hemoglobin gene defects is a rare important status that can lead to double heterozygote or homozygote with significant clinical manifestations. Such conditions can be observed in co-inheritance of alpha-thalassemia with beta-
Najmaddin Saki, Akbar Dorgalaleh, Zahra Kashani Khatib, Shaban Alizadeh, Fakher Rahim, Hamid Galehdari, Bijan Kaikhaei, Mohammad Pedram, Ali Dehghani Fard   +8 more
doaj  

Application of Cell‐Free DNA Barcode‐Enabled Single‐Molecule Test for Non‐Invasive Prenatal Testing of α‐Thalassemia and β‐Thalassemia

Journal of Clinical Laboratory Analysis, EarlyView.
We evaluated the cfBEST assay for non‐invasive prenatal testing of α‐ and β‐thalassemia in 72 families. The assay correctly identified 88 of 93 fetal alleles, achieving an overall accuracy of 94.6%, a sensitivity of 94%, and a specificity of 95.35%, with 100% concordance with postnatal follow‐up.
Qin Liu, Na Ma, Wanglan Tang, Qianting Chen, Deguo Tang, Chunyan Zeng, Xiaofeng Wang, Hui Xi   +7 more
wiley   +1 more source

Rare double heterozygosity for poly A(A>G) and CD17(A>T) of beta thalassemia intermedia in a Chinese family

Hematology Reports, 2019
Beta thalassemia is a hereditary disorder resulted from mutations in the β globin gene leading to alpha/beta imbalance, ineffective erythropoiesis, and chronic anemia.
Jianhong Xie, Yuqiu Zhou, Qizhi Xiao, Ruoting Long, Lianxiang Li, Lei Li   +5 more
doaj   +1 more source

Cerebral Blood Transit in Sickle Cell Anemia

Journal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT Background Sickle cell anemia (SCA) patients upregulate cerebral blood flow to compensate for decreased arterial oxygen content. Such hyperemic conditions can manifest as venous hyperintense signal on arterial spin labeling (ASL) MRI, which may reflect faster capillary blood transit, altered oxygen extraction fraction (OEF), and infarct risk ...
Wesley T. Richerson, Megan A. Aumann, Alexander K. Song, Samantha Davis, Lauren Milner, Maria Garza, Dann Martin, L. Taylor Davis, Sumit Pruthi, Lori C. Jordan, Manus J. Donahue   +10 more
wiley   +1 more source

Serum ferritin and hematological indices in thalassemia minor and nontransfusion dependent hemoghlobinopathy

Iraqi Journal of Hematology, 2021
BACKGROUND: Iron deficiency is not common in thalassemia minor and nontransfusion dependent hemoglobinophaties. The majority of these patients have normal-to-high serum ferritin. OBJECTIVES: The aims of the study were to evaluate serum ferritin levels in
Mehdi Dehghani, Parisa Karimzadeh, Nazanin Azadeh, Alirea Rezvani, Ali Kashkooe   +4 more
doaj   +1 more source

Plummer–Vinson syndrome in a 10‐year‐old boy from Côte d'Ivoire: An exceptional paediatric case with African context

JPGN Reports, EarlyView.
Abstract Plummer–Vinson syndrome (PVS) is characterised by the triad of dysphagia, iron‐deficiency anaemia, and proximal oesophageal webs. While well described in adults, paediatric cases remain exceptionally rare, particularly in sub‐Saharan Africa.
Paul Mike Tayou Mbobda, Hatrydt Guillaume Dimitri Kouamé, Amadou Ouattara   +2 more
wiley   +1 more source