Results 61 to 70 of about 1,922,511 (410)
Orphanet Journal of Rare Diseases, 2020 Background The necessity of early treatment for lysosomal storage diseases (LSDs) has triggered the development of newborn screening for LSDs in recent years.
Y. Chien +9 more
semanticscholar +1 more source
Haemoglobinopathies and newborn haemoglobinopathy screening in Germany. [PDF]
, 2009 Germany has been an immigration country since the early 1950s. In December 2007, 6.7 million non-German citizens lived in the country. However, the total number of citizens with a migration background is 15–20 million, about 9 million of whom come ...
Dickerhoff, R. +2 more
core +1 more source
A novel haemoglobin variant mimicking cyanotic congenital heart disease [PDF]
, 2016 Screening for critical congenital heart defects in newborn babies can aid in early recognition, with the prospect of improved outcome. However, as this universal newborn screening is implemented, there will be an increasing number of false-positive ...
Abecasis, F +3 more
core +2 more sources
International Journal of Neonatal Screening, 2016 The Perkin Elmer Genetic Screening Processor (GSP)™ is a fully automated system for the processing of immunoassays for thyroid stimulating hormone (TSH), 17-hydroxyprogesterone (17-OHP), immuno reactive trypsin (IRT), biotinidase, and total T4, as well ...
Ralph Fingerhut, Susanna H. M. Sluka
doaj +1 more source
International Journal of Neonatal Screening, 2022 X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder caused by pathogenic variants in the ATP-binding cassette subfamily D member 1 gene (ABCD1) that encodes the adrenoleukodystrophy protein (ALDP). Defects in ALDP result in elevated cerotic acid,
Tarek A. Teber +4 more
doaj +1 more source
Potentializing Newborn Screening [PDF]
Current Anthropology, 2013 Virtually all 4.25 million babies born annually in the United States are screened for more than 50 rare genetic conditions. In a country plagued with widespread health-service access problems, this remarkable public health achievement depends on policy visions of newborn screening as the linchpin of secondary prevention and saving children's lives ...
Timmermans, Stefan, Buchbinder, Mara
openaire +4 more sources
Molecular Oncology, EarlyView.Stemness properties, including quiescence, self‐renewal, and chemoresistance, are closely associated with leukemia relapse. Here, we demonstrate that DNA damage‐inducible transcript 4 (DDIT4) is induced in the hypoxic bone marrow niche and is essential for maintaining the stemness of AML1‐ETO9a leukemia cells.
Yishuang Li +12 more
wiley +1 more source
MiR-652-5p elevated glycolysis level by targeting TIGAR in T-cell acute lymphoblastic leukemia
Cell Death and Disease, 2022 The effect of glycolysis remains largely elusive in acute T lymphoblastic leukemia (T-ALL). Increasing evidence has indicated that the dysregulation of miRNAs is involved in glycolysis, by targeting the genes coding glycolysis rate-limiting enzymes.
Shan Liu +11 more
doaj +1 more source
International Journal of Neonatal Screening, 2021 After several decades of successful newborn screening (NBS) for congenital hypothyroidism, the optimal hypothyroidism NBS algorithm for very preterm infants is still controversial.
Birgit Odenwald +5 more
doaj +1 more source
FEM1B enhances TRAIL‐induced apoptosis in T lymphocytes and monocytes
FEBS Open Bio, EarlyView.FEM1B facilitates TRAIL‐induced apoptosis through distinct mechanisms in T lymphocytes and monocytes. In T lymphocytes, FEM1B engages with TRAF2, leading to a reduction in TRAF2 expression, which subsequently lessens TRAF2's inhibitory influence on caspase‐8.
Chenbo Yang +5 more
wiley +1 more source