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| http://dx.doi.org/10.3324/haematol.2012.064097 | DOI Listing |
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Generation of a KDM5D knockout human embryonic stem cell line with CRISPR/Cas9 technology.
Stem Cell Res
January 2025
Key Laboratory of Tropical Translational Medicine of Ministry of Education & Key Laboratory of Brain Science Research Transformation in Tropical Environment of Hainan Province, Department of Biochemistry and Molecular Biology, School of Basic Medicine and Life Sciences, Hainan Medical University, Haikou, Hainan 571199, China; Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research, Key Laboratory of Reproductive Health Diseases Research and Translation (Hainan Medical University), Ministry of Education, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan 571101, China; Department of Reproductive Medicine, Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan 571101, China; National Center for International Research "China-Myanmar Joint Research Center for Prevention and Treatment of Regional Major Disease" by the Ministry of Science and Technology of China, Haikou, Hainan 571101, China; Haikou Key Laboratory for Preservation of Human Genetic Resource, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan 571101, China. Electronic address:
KDM5D is a gene implicated in spermatogenic failure and sex-related differences in colon cancer progression, though its role in spermatogenesis remains unclear. We successfully generated a KDM5D knockout human embryonic stem cells using CRISPR/Cas9 technology. This knockout cell line provides a valuable model for studying KDM5D's function in spermatogenesis and its influence on sex differences in various diseases.
View Article and Find Full Text PDFIdentification of a β-Globin Gene Mutation with the Genotype β-28(A > G), IVS-I-5(G > A)/βCD 71/72(+A) Using Third-Generation Sequencing.
Hemoglobin
January 2025
Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, Guangdong, People's Republic of China.
This study presents the hematological and genetic analysis of a child with severe β-thalassemia harboring triple heterozygous mutations. The child, diagnosed with anemia at the age of 1 year, became transfusion-dependent and maintained a hemoglobin level of 72.00-84.
View Article and Find Full Text PDFPrevalence and Spectrum of β-Thalassemia Mutations in Baghdad, Iraq: Data from the Premarital Screening Program.
Hemoglobin
January 2025
Department of Pathology, School of Medicine, University of Duhok, Duhok, Iraq.
The knowledge of the prevalence and molecular basis of β-hemoglobinopathies constitutes an important prerequisite for an effective prevention program. To address this issue in Iraq's capital, Baghdad, a total of 12526 individuals (6263 couples) attending three main Premarital Screening centers were enrolled. Individuals were labeled as β-hemoglobin disorders based on full blood counts and high-performance liquid chromatography.
View Article and Find Full Text PDFHEV Infection in Beta-Thalassemia Patients.
Pathogens
December 2024
Medical School, University of Patras, Rio, 26504 Patras, Greece.
Thalassemia is an inherited hematological disorder characterized by a decrease in the synthesis of or absence of one or more globin chains. Hepatitis E virus (HEV) is a major cause of acute viral hepatitis, constituting a major global health burden and emerging as a critical public health concern. HEV infection is mainly transmitted via the fecal-oral route; however, parenteral transmission through blood components has been reported in both developing and developed countries.
View Article and Find Full Text PDFBiatrial and Biventricular Reference Ranges Based on Cardiac Magnetic Resonance in Sickle Cell Disease Patients Without Heart Damage.
Diagnostics (Basel)
December 2024
Istituto di Radiologia, Dipartimento di Medicina, Università di Padova, 35128 Padova, Italy.
Background/objectives: We aimed to establish biatrial and biventricular reference ranges using cardiac magnetic resonance (CMR) parameters in SCD patients without heart damage.
Methods: This study compared CMR parameters, quantified by cine SSFP sequences, in 48 adult SCD patients without apparent cardiac involvement (defined by the absence of known risk factors, normal electrocardiogram, and no macroscopic myocardial fibrosis or significant cardiac iron on T2* CMR) to matched cohorts of 96 healthy controls and 96 thalassemia major (TM) patients without cardiac damage. Nine paediatric SCD patients were also analysed and compared to age- and gender-matched groups of nine TM patients and nine healthy subjects.
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