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Similar Publications

In the present study, we identified 22 significant SNPs, eight stable QTLs and 17 potential candidate genes associated with 100-seed weight in soybean. Soybean is an economically important crop that is rich in seed oil and protein. The 100-seed weight (HSW) is a crucial yield contributing trait.

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Modern clinical genetics in cardiology.

Heart

January 2025

National Referral Center for Inherited Cardiac Diseases, Cardiology and Genetics Departments, Hôpital de la Pitié-Salpêtrière, Paris, France.

Advances in molecular genetics during the past decades led to seminal discoveries in the genetic basis of cardiovascular diseases, resulting in a new understanding of their pathogenesis, determinants of natural history and more recently paved the way for innovative therapies. A significant gap, however, exists between the rapidly increasing knowledge, especially of cardiovascular Mendelian disorders, and the medical applications in daily practice. This paper will focus on the practical issues the cardiologist may be faced with when suspecting a Mendelian disorder.

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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

Am J Hum Genet

January 2025

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany. Electronic address:

BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.

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A new hereditary PROS1 gene mutation caused isolated cortical venous thrombosis.

Thromb Res

January 2025

Department of Neurology, Fujian Institute of Geriatrics, Fujian Medical University Union Hospital, Fuzhou, Fujian, China. Electronic address:

Background: Protein S deficiency is a rare inherited disease. We report the case of a young man who unexpectedly developed isolated cortical vein thrombosis (ICoVT) associated with a novel PROS1 mutation.

Methods: Clinical symptoms were recorded, and physical examinations conducted.

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The pathway to resolve dimeric forms distinguishes plasmids from megaplasmids in Enterobacteriaceae.

Nucleic Acids Res

January 2025

Laboratoire de Microbiologie et de Génétique Moléculaires, Centre de Biologie Intégrative, Université de Toulouse, CNRS, 165 Rue Marianne Grunberg-Manago, campus Paul Sabatier, 118, route de Narbonne, 31062, Toulouse Cedex, France.

Bacterial genomes contain a plethora of secondary replicons of divergent size. Circular replicons must carry a system for resolving dimeric forms, resulting from recombination between sister copies. These systems use site-specific recombinases.

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