Publications by authors named "F LEDUC"

Article Synopsis
  • The study focuses on Holt-Oram syndrome (HOS), a condition caused by TBX5 gene variants, which lead to heart and limb abnormalities, and highlights the difficulties in predicting the effects of these genomic variants, particularly missense and splice variants.
  • Functional tests on various TBX5 variants were conducted to better classify variants of uncertain significance (VUS), leading to the reclassification of 9 out of 14 as likely pathogenic and confirming their involvement in HOS.
  • The findings show that bioinformatics and biological tests are essential and work together with clinical knowledge to improve genomic variant classification for rare diseases.
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Xenia2 is a DV cluster actinobacteriophage that infects NRRL B-16540. The genome is 68,135bp, has a GC content of 57.9% and 98 predicted protein-coding genes, 33 of which have a predicted function.

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Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly (TEBC) syndrome is a rare autosomal dominant condition, recently linked to the protein kinase D1 (PRKD1) gene. The phenotype of TEBC remains incomplete at this point. Our aim is to improve the characterization of the clinical and molecular aspects of the TEBC syndrome.

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Background: COVID-19 severity is associated with its respiratory manifestations. Neutralising antibodies against SARS-CoV-2 administered systemically have shown clinical efficacy. However, immediate and direct delivery of neutralising antibodies via inhalation might provide additional respiratory clinical benefits.

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Giant hydronephrosis (GH), characterized by the presence of more than 1 L of fluid in the renal collecting system, is a rare urological condition, particularly in adults. Obstruction of the pyeloureteral junction is the most common cause of GH. We report the case of a 51-year-old man who presented with dyspnea, edema of the lower limbs, and major abdominal distension.

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