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Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis.
Eur J Endocrinol
March 2025
Centre for Endocrinology, Barts and The London School of Medicine, Queen Mary University of London, London, UK.
Objective: Heterozygous germline loss-of-function variants in AIP are associated with young-onset growth hormone and/or prolactin-secreting pituitary tumours. However, the pathogenic role of the c.911G>A; p.
View Article and Find Full Text PDFNewborn screening of primary carnitine deficiency: clinical and molecular genetic characteristics.
Ital J Pediatr
March 2025
Hefei Women and Children Health Center, Hefei, 230092, China.
Background: Primary carnitine deficiency (PCD) is a rare autosomal recessive fatty acid oxidation disorder caused by variants in the SLC22A5 gene, with its prevalence and the spectrum of mutations in SLC22A5 varying across races and regions. This study aimed to analyze the clinical and genetic characteristics of PCD patients, including newborns and their mothers, identified by newborn screening (NBS) in Hefei, China.
Methods: The dried blood spot samples from newborns were analyzed using tandem mass spectrometry (MS/MS) from July 2015 to December 2024.
Genetic dissection of flowering time and fine mapping of qFT.A02-1 in rapeseed (Brassica napus L.).
Theor Appl Genet
March 2025
Laboratory for Research and Utilization of Qinghai-Tibet Plateau Germplasm Resources, Qinghai Spring Rape Engineering Research Center, Qinghai Research Branch of the National Oil Crop Genetic Improvement Center, Spring Rape Scientific Observation Experimental Station of Ministry of Agriculture and Rural Areas, Academy of Agricultural and Forestry Sciences, Qinghai University, Xining, 810016, Qinghai, China.
qFT.A02-1, a major quantitative trait locus controlling flowering time in Brassica napus, was mapped to a 104.8-kb region on chromosome A02, and BnaA02G0156900ZS is the candidate gene in response for flowering time.
View Article and Find Full Text PDFBackground: T-lymphoblastic leukemia (T-ALL) is an aggressive hematologic malignancy with a less favorable prognosis. The genetic background of T-ALL is widely heterogeneous, with the co-occurrence of multiple genetic abnormalities. The STIL-TAL1 rearrangement results from a submicroscopic deletion on chromosome 1p33 and is present in 15 - 25% of T-ALL cases.
View Article and Find Full Text PDFTumor protein 53 gene polymorphism, demographic attributes and associated risk factors among liver cancer patients in Calabar, Nigeria.
BMC Cancer
March 2025
Department of Guidance and Counseling, Faculty of Education, University of Calabar, Calabar, Nigeria.
Mutations in the TP53 gene had been attributed to the development of liver cancer. Hepatocellular carcinoma (HCC) and liver tumour are liver diseases having high mortality rates in several populations. There is no information on the TP53 gene polymorphism among liver diseases patients in Calabar, Nigeria.
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