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Thalassemia genetic screening of pregnant women with anemia in Northern China through comprehensive analysis of thalassemia alleles (CATSA).
Clin Chim Acta
January 2025
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, National Clinical Research Centre for Obstetric & Gynecologic Disease, Beijing 100730 China. Electronic address:
Thalassemia is an inherited blood disorder and traditionally considered more prevalent in Southern China. However, with increased migration and intermarriage, more and more thalassemia carriers had been reported in Northern China. The lack of screening for thalassemia carriers may also result in missed diagnosis in Northern China.
View Article and Find Full Text PDFMitochondria-targeted oligomeric α-synuclein induces TOM40 degradation and mitochondrial dysfunction in Parkinson's disease and parkinsonism-dementia of Guam.
Cell Death Dis
December 2024
Division of DNA Repair Research, Center for Neuroregeneration, Department of Neurosurgery, Houston Methodist Research Institute, Houston, TX, USA.
Mitochondrial dysfunction is a central aspect of Parkinson's disease (PD) pathology, yet the underlying mechanisms are not fully understood. This study investigates the link between α-Synuclein (α-Syn) pathology and the loss of translocase of the outer mitochondrial membrane 40 (TOM40), unraveling its implications for mitochondrial dysfunctions in neurons. We discovered that TOM40 protein depletion occurs in the brains of patients with Guam Parkinsonism-Dementia (Guam PD) and cultured neurons expressing α-Syn proteinopathy, notably, without corresponding changes in TOM40 mRNA levels.
View Article and Find Full Text PDFOptical genome mapping of structural variants in Parkinson's disease-related induced pluripotent stem cells.
BMC Genomics
October 2024
Institute of Neurogenetics, University of Lübeck and University Hospital Schleswig-Holstein, Ratzeburger Allee 160, 23562, Lübeck, Germany.
Background: Certain structural variants (SVs) including large-scale genetic copy number variants, as well as copy number-neutral inversions and translocations may not all be resolved by chromosome karyotype studies. The identification of genetic risk factors for Parkinson's disease (PD) has been primarily focused on the gene-disruptive single nucleotide variants. In contrast, larger SVs, which may significantly influence human phenotypes, have been largely underexplored.
View Article and Find Full Text PDFApplication of electrospray triple quadrupole mass spectrometry in assessing thalassemia in a population.
Indian J Pathol Microbiol
September 2024
Department of R and D, Neuberg Anand Academy of Laboratory Medicine Pvt. Ltd., Bengaluru, Karnataka, India.
Introduction: Thalassemia is widely prevalent in Asian countries and the Middle East region of the world. While the prevalence of α thal is around 5-20% in the population, the incidence of β thal is around 3-4%. The available data on thalassemia in Indians is based on chromatographic or electrophoretic techniques.
View Article and Find Full Text PDFThe phenotype of β-thalassemia varies widely. The primary determinant is the type of beta-globin gene mutation; however, there are secondary and tertiary modifiers also as associated alpha mutations, polymorphisms, as well as coinheritance of mutations affecting other related systems. Co-inheritance of alpha thalassemia mutations is known to ameliorate the severity of HbE-β thalassemia.
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