Publications by authors named "Helene Louis Dit Picard"
Article Synopsis
- Survival rates for esophageal squamous cell carcinoma (ESCC) are low due to late diagnosis, prompting research into early molecular changes that could aid in earlier detection.
- The study examined esophageal biopsies from individuals with Tylosis with esophageal cancer (TOC), a syndrome linked to higher ESCC risk, identifying significant transcriptional changes that were also seen in ESCC.
- Results indicated that these early changes may be crucial in understanding how sporadic ESCC develops and highlighted specific upregulated genes like Keratin 17 that could serve as potential biomarkers.
Article Synopsis
- Gain-of-function mutations in the WNK1 and WNK4 genes cause familial hyperkalemic hypertension (FHHt), which leads to high blood pressure and elevated potassium levels along with metabolic acidosis.
- Recent research has identified new mutations in the WNK1 gene that affect its interaction with the KLHL3-CUL3 ubiquitin ligase complex, crucial for renal ion transport regulation.
- Functional studies and a CRISPR/Cas9 mouse model demonstrated that these mutations result in diminished ubiquitination of the kidney-specific KS-WNK1 isoform, leading to increased activation of renal ion transport pathways and altered potassium balance.
Dehydrated hereditary stomatocytosis is a genetic condition with defective red blood cell membrane properties that causes an imbalance in intracellular cation concentrations. Recently, two missense mutations in the mechanically activated PIEZO1 (FAM38A) ion channel were associated with dehydrated hereditary stomatocytosis. However, it is not known how these mutations affect PIEZO1 function.
View Article and Find Full Text PDFFamilial hyperkalemic hypertension (FHHt) is a Mendelian form of arterial hypertension that is partially explained by mutations in WNK1 and WNK4 that lead to increased activity of the Na(+)-Cl(-) cotransporter (NCC) in the distal nephron. Using combined linkage analysis and whole-exome sequencing in two families, we identified KLHL3 as a third gene responsible for FHHt. Direct sequencing of 43 other affected individuals revealed 11 additional missense mutations that were associated with heterogeneous phenotypes and diverse modes of inheritance.
View Article and Find Full Text PDFBy using a combination of array comparative genomic hybridization and a candidate gene approach, we identified nuclear factor I/X (NFIX) deletions or nonsense mutation in three sporadic cases of a Sotos-like overgrowth syndrome with advanced bone age, macrocephaly, developmental delay, scoliosis, and unusual facies. Unlike the aforementioned human syndrome, Nfix-deficient mice are unable to gain weight and die in the first 3 postnatal weeks, while they also present with a spinal deformation and decreased bone mineralization. These features prompted us to consider NFIX as a candidate gene for Marshall-Smith syndrome (MSS), a severe malformation syndrome characterized by failure to thrive, respiratory insufficiency, accelerated osseous maturation, kyphoscoliosis, osteopenia, and unusual facies.
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