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Correction: Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).
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Department of Human Genetic, Altamedica, Rome, Italy.
Ergostane-type steroids from mushrooms of Pleurotus genus.
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Faculty of Pharmaceutical Sciences, Toho University, Miyama 2-2-1, Funabashi, Chiba, 274-8510, Japan.
Steroids are physiologically important compounds for animals, plants, and fungi, and they have significantly contributed to drug discovery for many years. Fungi mainly biosynthesize ergostane-type steroids such as ergosterol. However, after the basic skeleton is biosynthesized, chemical transformations can lead to the cleavage or rearrangement of the fundamental skeleton of steroids.
View Article and Find Full Text PDFFrontline professionals' experiences of navigating boundaries in a layered care and support system for individuals with complex care needs in the Netherlands.
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Erasmus School of Health Policy & Management, Erasmus University Rotterdam, Postbus 1738, 3000 DR, Rotterdam, the Netherlands. Electronic address:
Fragmented care systems, characterized by horizontal and vertical boundaries, hinder interprofessional collaboration for individuals with complex care needs. This study explores how frontline professionals navigate these boundaries to foster collaboration within a national program promoting integrated care for individuals with 'misunderstood behaviour' in the Netherlands. Using a boundary work lens, we analysed 44 semi-structured interviews with frontline professionals from the social, care, and safety domains.
View Article and Find Full Text PDFCommon Ancestry of the Id Locus: Chromosomal Rearrangement and Polygenic Possibilities.
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Computational Evolutionary Genomics Lab, Department of Biological Sciences, IISER Bhopal, Bhauri, Madhya Pradesh, India.
The diversity in dermal pigmentation and plumage color among domestic chickens is striking, with Black Bone Chickens (BBC) particularly notable for their intense melanin hyperpigmentation. This unique trait is driven by a complex chromosomal rearrangement on chromosome 20 at the Fm locus, resulting in the overexpression of the EDN3 (a gene central to melanocyte regulation). In contrast, the inhibition of dermal pigmentation is regulated by the Id locus.
View Article and Find Full Text PDFGermline structural variant as the cause of Lynch Syndrome in a family from Ecuador.
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Gastroenterology Deparment, Hospital Clínic Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), University of Barcelona, Barcelona, Spain.
Colorectal cancer (CRC) is one of the most common cancers worldwide. Lynch Syndrome (LS) is the most common form of hereditary CRC and it is caused by germline defects in the DNA-mismatch repair (MMR) pathway. It is of extreme importance for affected LS patients and their relatives to identify the germline causative alteration to provide intensified surveillance to those at risk and allow early diagnosis and cancer prevention.
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