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http://dx.doi.org/10.4274/tjh.galenos.2022.2022.0210 | DOI Listing |
Sci Adv
January 2025
College of Life Science and Technology, Key Laboratory of Molecular Biophysics of the Ministry of Education, Huazhong University of Science and Technology, Wuhan 430074, China.
Yellow seed coat color (SCC) is a valuable trait in , which is significantly correlated to high seed oil content (SOC) and low seed lignocellulose content (SLC). However, no dominant yellow SCC genes were identified in . In this study, a dominant yellow SCC N53-2 was verified, and then 58,981 eQTLs and 25 trans-eQTL hotspots were identified in a double haploid population derived from N53-2 and black SCC material Ken-C8.
View Article and Find Full Text PDFHum Gene Ther
January 2025
Managing Editor, Human Gene Therapy, Mary Ann Liebert, Inc., Publishers, New Rochelle, New York, USA.
Cancer Immunol Immunother
January 2025
Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Histiocytic sarcoma (HS) is a rare yet lethal malignancy with no established standard of care therapies. A lack of pre-clinical models limits our understanding of HS pathogenesis and identification of therapeutic targets. Canine HS shares multiple clinical and genetic similarities with human HS, supporting its use as a unique translational model.
View Article and Find Full Text PDFCalcif Tissue Int
January 2025
Department of Endocrinology, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.
Hyperparathyroidism-jaw tumor syndrome is a rare form of syndromic primary hyperparathyroidism. We describe a young female with a history of common precursor B acute lymphoblastic leukaemia who was diagnosed with overt primary hyperparathyroidism due to a pathogenic CDC73 variant (c.25C > T).
View Article and Find Full Text PDFCalcif Tissue Int
January 2025
Department of Medicine, Surgery and Neurosciences, University of Siena, Policlinico Santa Maria Alle Scotte, Siena, Italy.
Aromatase deficiency (ORPHA:91; OMIM: 613,546) is a rare, autosomal recessive disorder due to loss of function mutations in the CYP19A1 gene, described in both genders with an estimated incidence below 1/1000000. While in female the clinical manifestations generally occur at birth or in early infancy, and mainly involve sexual characteristics, in men clinical signs of aromatase deficiency mostly occur in puberty and especially in late puberty, so that diagnosis is generally established after the second decade due to tall stature, unfused epiphyses and reduced bone mass. Here we review the available information concerning the skeletal and extraskeletal phenotype and the clinical management of bone health in patients with aromatase CYP19A1 gene mutations.
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