Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives
Pediatric Investigation, EarlyView.Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
wiley +1 more source
Respirology, EarlyView.We developed a novel ICT with high clinical performance that can distinguish APAP patients from those with other pulmonary diseases. The rapid and simple detection of GMAbs in serum provided a new practical method for the diagnosis of APAP. ABSTRACT Background and Objectives Anti‐GM‐CSF autoantibodies (GMAbs) are essential biomarkers for diagnosing ...
Chika Narita +10 more
wiley +1 more source
BRAF mutation in hairy cell leukemia
Oncology Reviews, 2014 BRAF is a serine/threonine kinase with a regulatory role in the mitogen-activated protein kinase (MAPK) signaling pathway. A mutation in the RAF gene, especially in BRAF protein, leads to an increased stimulation of this cascade, causing uncontrolled ...
Ahmad Ahmadzadeh +7 more
doaj +1 more source
Novel mutation in addition to functional TMPRSS6 gene polymorphisms originate an IRIDA-like phenotype in an African child [PDF]
, 2019 Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive anemia often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. The disease originates from mutations in TMPRSS6 gene, encoding Matriptase 2,
Batalha, Sara +7 more
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A Feasibility Study of Non-Invasive Prenatal Testing of Thalassemia by Haplotype Analysis Based on Next Generation Sequencing and Long-Read Sequencing [PDF]
, 2023 Lei Wang +12 more
openalex +1 more source
The role of iron in normal and impaired testicular function
Andrology, EarlyView.Abstract Iron plays a critical role in testicular physiology, impacting spermatogenesis, testosterone production, and overall testicular function. Iron homeostasis is maintained through systemic and cellular regulatory mechanisms, including hepcidin‐mediated systemic iron control and the iron‐responsive element/iron regulatory protein (IRE/IRP) system ...
Aileen Harrer +2 more
wiley +1 more source
Spinal cord compression due to extramedullary hematopoiesis in a patient with E-beta-thalassemia managed without radiation or surgery [PDF]
, 2018 Van T. La +5 more
openalex +1 more source
Andrology, EarlyView.Abstract Background Varicocoele is a common cause of male infertility, affecting spermatogenesis through increased testicular temperature, venous stasis, and oxidative stress. Microsurgical subinguinal varicocelectomy improves semen quality, whereas intrauterine insemination is widely used for mild male factor infertility.
Yanlin Ma +8 more
wiley +1 more source
Prenatal diagnosis of thalassemia: A cost-effective step towards eradication
Pediatric Hematology Oncology Journal, 2022 Krisha Shah +7 more
doaj +1 more source
Prognostic significance of mutated genes in megakaryocytic disorders
Oncology Reviews, 2019 Megakaryopoiesis is a process during which platelets that play a major role in hemostasis are produced due to differentiation and maturation of megakaryocytic precursors.
Ali Amin Asnafi +4 more
doaj +1 more source